id category name description provided_by synonym 0100001 Date author comment consider contributor created_by creation_date deprecated has_alternative_id has_db_xref has_o_b_o_namespace is_a_defining_property_chain_axiom knowledge_source object predicate relation shorthand subject type HP:0007332 biolink:NamedThing Focal hemifacial clonic seizure Focal seizure characterized at onset by clonic movements affecting half of the face. hp0009lx5z Hemifacial seizures A seizure type typically occurring in childhood epilepsy with centrotemporal spikes. UMLS:C4024906 human_phenotype owl:Class HP:0002266 biolink:NamedThing Focal clonic seizure A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. hp0009lx5z Focal clonic seizures|Localised clonic seizure|Localized clonic seizure|Segmental clonic seizure|Partial clonic seizure The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus). UMLS:C0752323|MSH:D020938 human_phenotype owl:Class HP:0100528 biolink:NamedThing Pleuropulmonary blastoma A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant. hp0009lx5z doelkens 2010-12-20T11:48:57Z SNOMEDCT_US:707670009|MSH:C537516|UMLS:C1266144|SNOMEDCT_US:128763002|NCIT:C3732 human_phenotype owl:Class HP:0100527 biolink:NamedThing Neoplasia of the pleura hp0009lx5z doelkens 2010-12-20T11:47:33Z NCIT:C3262|UMLS:C4022033 human_phenotype owl:Class HP:0009561 biolink:NamedThing Osteolytic defects of the distal phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger. hp0009lx5z Acro-osteolysis of terminal index finger phalanx|Acro-osteolysis of index finger|Osteolytic defects of the outermost bone of the 2nd finger doelkens 2009-01-28T04:16:02Z HP:0004108|HP:0004142 UMLS:C4021441 human_phenotype owl:Class HP:0009542 biolink:NamedThing Abnormality of the distal phalanx of the 2nd finger hp0009lx5z Abnormality of the outermost bone of the 2nd finger|Abnormality of terminal index finger phalanx doelkens 2009-01-21T10:17:15Z HP:0004140|HP:0004111 UMLS:C4021449 human_phenotype owl:Class HP:0011558 biolink:NamedThing Double inlet to single ventricle with common atrioventricular orifice hp0009lx5z peter 2012-04-07T12:02:03Z UMLS:C4023300 human_phenotype owl:Class HP:0011557 biolink:NamedThing Double inlet to single ventricle of indeterminate morphology The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle. hp0009lx5z peter 2012-04-07T12:00:21Z UMLS:C4023301 human_phenotype owl:Class HP:0010729 biolink:NamedThing Cherry red spot of the macula Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula. hp0009lx5z Macular cherry red spot sdoelken 2010-04-20T11:14:11Z UMLS:C2216370 human_phenotype owl:Class HP:0000630 biolink:NamedThing Abnormal retinal artery morphology hp0009lx5z Retinal arterial abnormality|Abnormality of retinal arteries UMLS:C4021802 human_phenotype owl:Class HP:0010004 biolink:NamedThing Partial duplication of the distal phalanges of the hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. hp0009lx5z Bifid terminal phalanges of the hand|Partial duplication of the outermost bone of the hand doelkens 2009-05-26T03:55:29Z HP:0006196 UMLS:C4021348 human_phenotype owl:Class HP:0009883 biolink:NamedThing Duplication of the distal phalanx of hand This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. hp0009lx5z Notched outermost bone of hand|Duplication of the outermost bone of hand|Partial/complete duplication of the distal phalanges of the hand|Bifid terminal phalanges doelkens 2009-04-24T04:33:55Z HP:0001228|HP:0010007 UMLS:C1849343 human_phenotype owl:Class HP:0100154 biolink:NamedThing Small epiphysis of the middle phalanx of the 3rd toe hp0009lx5z Small end part of the middle bone of the 3rd toe doelkens 2010-06-24T10:24:13Z UMLS:C4022267 human_phenotype owl:Class HP:0100092 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 3rd toe hp0009lx5z Abnormality of the end part of the middle bone of the 3rd toe doelkens 2010-06-24T10:02:07Z UMLS:C4022329 human_phenotype owl:Class HP:0040068 biolink:NamedThing Abnormality of limb bone hp0009lx5z Abnormality of limb bone HPO:skoehler UMLS:C4022456 owl:Class HP:0040064 biolink:NamedThing Abnormality of limbs hp0009lx5z Dysmelia|Abnormal limbs|Abnormality of limbs|Limb anomaly HPO:skoehler SNOMEDCT_US:445144002|UMLS:C0239337|UMLS:C4073131 owl:Class HP:0033274 biolink:NamedThing Glomerular endotheliosis Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. hp0009lx5z 2020-11-28 16:25:15+00:00 peter owl:Class HP:0033272 biolink:NamedThing Abnormal glomerular endothelial cell morphology An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. hp0009lx5z 2020-11-28 16:20:58+00:00 peter owl:Class HP:0010386 biolink:NamedThing Curved 5th toe phalanx A deviation from the normal straight form of one or more phalanges of the fifth toe. hp0009lx5z Curved little toe bones|Curved pinkie toe bones|Curved pinky toe bones|Curved phalanges of the 5th toe doelkens 2009-07-16T11:52:18Z UMLS:C4021276 human_phenotype owl:Class HP:0010342 biolink:NamedThing Abnormality of the phalanges of the 5th toe hp0009lx5z Abnormality of the little toe bones|Abnormality of the pinky toe bones|Abnormality of the pinkie toe bones doelkens 2009-07-16T11:41:49Z UMLS:C4023892 human_phenotype owl:Class HP:0032766 biolink:NamedThing Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature. hp0009lx5z peter owl:Class HP:0011154 biolink:NamedThing Focal autonomic seizure An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. hp0009lx5z Focal autonomic seizures Focal seizures with a subjective or objectively documented alteration of autonomic nervous system function at onset, involving but not limited to, cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions. Focal autonomic seizure is not a child of Epileptic aura (HP:0033348) as many Focal autonomic seizures are not purely subjective (required to be called an aura). peter 2011-10-18T02:23:31Z HP:0011164 UMLS:C4023509 owl:Class HP:0010170 biolink:NamedThing Small epiphyses of the toes hp0009lx5z Small end part of the toe bones doelkens 2009-05-29T01:34:06Z UMLS:C4023989 human_phenotype owl:Class HP:0010585 biolink:NamedThing Small epiphyses Reduction in the size or volume of epiphyses. hp0009lx5z Small end part of bone sandra1 2009-10-22T02:53:19Z HP:0005730 UMLS:C1846803 human_phenotype owl:Class HP:0033275 biolink:NamedThing Glomerular endothelial tubuloreticular inclusion Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. hp0009lx5z 2020-11-28 16:27:12+00:00 peter owl:Class HP:0004691 biolink:NamedThing 2-3 toe syndactyly Syndactyly with fusion of toes two and three. hp0009lx5z 2-3 toe soft tissue syndactyly|Toe syndactyly, 2-3|Webbed 2nd and 3rd toes|Syndactyly of second and third toes|2-3 syndactyly of feet|partial or complete syndactyly 2nd-3rd toes|2-3 toes syndactyly HP:0004703|HP:0008086|HP:0004685|HP:0004683|HP:0003773|HP:0001846|HP:0004697|HP:0008123|HP:0001856 SNOMEDCT_US:205145001|UMLS:C0432040 human_phenotype owl:Class HP:0001770 biolink:NamedThing Toe syndactyly Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". hp0009lx5z Syndactyly of toes|Foot syndactyly|Webbed toes|Syndactyly of feet|Fused toes HP:0005677|HP:0001828 UMLS:C0265660|SNOMEDCT_US:32113001 human_phenotype owl:Class HP:0009573 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 2nd finger Uneven (irregular) increase in bone density of the middle phalanx of the second finger. hp0009lx5z Uneven increase in bone density in the middle bone of the index finger doelkens 2009-01-28T05:10:24Z UMLS:C4024285 human_phenotype owl:Class HP:0009551 biolink:NamedThing Patchy sclerosis of 2nd finger phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger. hp0009lx5z Uneven increase in bone density in index finger bone|Patchy sclerosis of the phalanges of the 2nd finger doelkens 2009-01-21T10:20:26Z UMLS:C4021442 human_phenotype owl:Class HP:0025071 biolink:NamedThing U wave inversion Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves. hp0009lx5z 2016-09-26 10:39:43+00:00 Inverted U wave may be a sign of coronary artery disease, hypertension, valvular heart disease, congenital heart disease, cardiomyopathy, or hyperthyroidism. In individuals with acute chest pain, it may be a sign of myocardial ischemia. HPO:probinson owl:Class HP:0025070 biolink:NamedThing Abnormal U wave An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3. hp0009lx5z 2016-09-26 10:36:56+00:00 U waves represent prolonged repolarisation of myocardial M cells. Under normal conditions the M cells are electrically coupled to adjacent cell layers. However, in conditions that produce electrical uncoupling, these M cells have significant effects on repolarisation producing prolonged rounded ST-T waves or U waves. The finding of U wave inversion on an ECG at rest or baseline is a non-specific finding. It is significant when observed post exercise, being originally described in early 1940s. Subsequent studies in the late 1970s, demonstrated a significant correlation of U wave inversion with either left main or LAD disease. HPO:probinson owl:Class HP:0033583 biolink:NamedThing Follicular bronchiolitis Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways. hp0009lx5z 2021-01-27 20:37:56+00:00 Lymphocytic interstitial pneumonia (LIP) and follicular bronchiolitis (FB) are assumed to be pathological immunologic responses to different triggers and are particularly associated with autoimmune and infectious diseases as well as immunodeficiency. LIP can be defined as a dense, predominantly lymphocytic interstitial infiltrate that expands alveolar septa. In contrast, FB can be defined as a pattern of numerous lymphoid follicles associated with bronchioles and the immediate peribronchiolar interstitium. A grading system can be use to assess presence and extent of LIP and FB. Lymphocyte aggregates are defined as the aggregation of 50 or more lymphocytes per high-power field. Tissue was scored as grade 0 in the absence of lymphocyte aggregates, grade 1 with 0 to 1 aggregate/10 mm 2 , grade 2 with greater than 1 aggregate/10 mm 2 , grade 3 with greater than 1 aggregate/10 mm 2 and the presence of focal lymphoid interstitial pneumonia, and grade 4 with greater than 1 aggregate/10 mm 2 and the presence of diffuse LIP. peter owl:Class HP:0033582 biolink:NamedThing Pulmonary interstitial lymphocyte infiltration Abnormal accumulation of lymphocytes in the interstitium of the lung. hp0009lx5z 2021-01-27 20:32:20+00:00 peter owl:Class HP:0009383 biolink:NamedThing Bracket epiphyses of the 5th finger An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of little finger bone|Bracket shaped end part of pinky finger bone|Bracket shaped end part of pinkie finger bone doelkens 2009-01-13T01:19:03Z UMLS:C4024406 human_phenotype owl:Class HP:0009152 biolink:NamedThing Abnormality of the epiphyses of the 5th finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger. hp0009lx5z Abnormality of end part of pinky finger bone|Abnormality of end part of pinkie finger bone|Abnormality of end part of little finger bone peter 2008-12-22T02:07:27Z UMLS:C4024569 human_phenotype owl:Class HP:0008434 biolink:NamedThing Hypoplastic cervical vertebrae hp0009lx5z Cervical vertebrae hypoplasia|Underdeveloped cervical vertebrae HP:0008415 UMLS:C1835570 human_phenotype owl:Class HP:0008417 biolink:NamedThing Vertebral hypoplasia Small, underdeveloped vertebral bodies. hp0009lx5z Underdeveloped vertebrae HP:0008431 SNOMEDCT_US:205456006|UMLS:C0345394 human_phenotype owl:Class HP:0025216 biolink:NamedThing Triggered by heavy meal Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal. hp0009lx5z Heavy meal triggered symptoms|Triggered by overeating 2016-12-10 14:01:22+00:00 HPO:probinson owl:Class HP:0033793 biolink:NamedThing Triggered by food ingestion Applies to a sign or symptom that is provoked or brought about by eating a certain food. hp0009lx5z 2021-05-07 17:28:49+00:00 peter owl:Class HP:0009560 biolink:NamedThing Curved distal phalanx of the 2nd finger Curved appearance of the distal phalanx of the 2nd finger. hp0009lx5z Curved outermost bone of the index finger doelkens 2009-01-28T04:16:02Z UMLS:C4024291 human_phenotype owl:Class HP:0009549 biolink:NamedThing Curved phalanges of the 2nd finger hp0009lx5z Curved index finger bones doelkens 2009-01-21T10:20:26Z UMLS:C4024299 human_phenotype owl:Class HP:0005135 biolink:NamedThing Abnormal T-wave An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. hp0009lx5z T-wave abnormalities|EKG: T-wave abnormalities UMLS:C4025245 human_phenotype owl:Class HP:0003115 biolink:NamedThing Abnormal EKG Abnormal rhythm of the heart. hp0009lx5z Abnormal electrocardiogram|Abnormal ECG|Abnormal EKG|EKG abnormality SNOMEDCT_US:102594003|UMLS:C0522055 human_phenotype owl:Class HP:0100947 biolink:NamedThing Sclerosis of middle toe phalanx An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in middle toe bone|Sclerosis of the middle phalanges of the toes UMLS:C4020924 human_phenotype owl:Class HP:0010183 biolink:NamedThing Abnormality of the middle phalanges of the toes hp0009lx5z Abnormal middle bones of toe doelkens 2009-05-29T01:51:38Z UMLS:C4023981 human_phenotype owl:Class HP:0009812 biolink:NamedThing Amelia involving the upper limbs Amelia of one or both upper limbs. hp0009lx5z doelkens 2009-02-23T05:06:12Z UMLS:C4024200 human_phenotype owl:Class HP:0006496 biolink:NamedThing Aplasia/hypoplasia involving bones of the upper limbs Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. hp0009lx5z Absent/underdeveloped bones of the upper limbs|Absent/small bones of the upper limbs peter 2008-03-28T06:16:00Z UMLS:C4025035 human_phenotype owl:Class HP:0008402 biolink:NamedThing Ridged fingernail Longitudinal, linear prominences in the fingernail plate. hp0009lx5z Ridged fingernail|Longitudinally grooved fingernails|Ridged fingernails UMLS:C1849392 human_phenotype owl:Class HP:0001231 biolink:NamedThing Abnormal fingernail morphology An abnormality of the fingernails. hp0009lx5z Abnormal fingernails|Abnormality of the fingernails UMLS:C4021782 owl:Class HP:0006522 biolink:NamedThing Repeated pneumothoraces hp0009lx5z Repeated pneumothorax UMLS:C4025027 human_phenotype owl:Class HP:0002107 biolink:NamedThing Pneumothorax Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. hp0009lx5z Collapsed lung UMLS:C0032326|SNOMEDCT_US:36118008|MSH:D011030 human_phenotype owl:Class HP:0012096 biolink:NamedThing Intracranial epidermoid cyst A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development. hp0009lx5z See Figure 8 in PMID:16714456. Epidermoid cysts arise from ectodermal inclusion during neural tube closure in the 3rd-5th week of embryogenesis. The microscopic cyst lining consists of stratified squamous epithelium supported by an outer layer of collagenous connective tissue. Cystic contents usually include debris, keratin, water, and cholesterol laid down in a lamellar fashion. Epidermoid cysts do not contain dermal appendages. peter 2012-08-20T09:21:24Z UMLS:C4023045 human_phenotype owl:Class HP:0010576 biolink:NamedThing Intracranial cystic lesion A cystic lesion originating within the brain. hp0009lx5z Cerebral cystic malformation sandra1 2009-10-22T01:38:49Z UMLS:C4021250 human_phenotype owl:Class HP:0032731 biolink:NamedThing Focal aware hyperkinetic seizure A type of focal hypermotor seizure during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0020217 biolink:NamedThing Focal aware motor seizure A type of focal motor seizure in which awareness is retained throughout the seizure. hp0009lx5z Focal motor aware seizure robinp 2020-02-24 14:10:19+00:00 owl:Class HP:0033814 biolink:NamedThing Paraseptal Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. hp0009lx5z 2021-05-09 12:08:03+00:00 peter owl:Class HP:0012836 biolink:NamedThing Spatial pattern The pattern by which a phenotype affects one or more regions of the body. hp0009lx5z peter 2014-06-06T07:25:02Z UMLS:C4022711 human_phenotype owl:Class HP:0003262 biolink:NamedThing Smooth muscle antibody positivity The presence in serum of antibodies against smooth muscle. hp0009lx5z Anti-smooth muscle antibody positivity|Smooth muscle antibody positive Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis. SNOMEDCT_US:310290006|UMLS:C0241185 owl:Class HP:0030057 biolink:NamedThing Autoimmune antibody positivity The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. hp0009lx5z UMLS:C4022660 owl:Class HP:0009579 biolink:NamedThing Proximal/middle symphalangism of the 2nd finger Fusion of the proximal and middle phalanges of the 2nd finger. hp0009lx5z Fused innermost and middle index finger bones doelkens 2009-01-28T05:23:12Z UMLS:C4024282 human_phenotype owl:Class HP:0006152 biolink:NamedThing Proximal symphalangism of hands The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. hp0009lx5z Fused innermost hinge joints|Proximal interphalangeal joint synostoses HP:0006005 UMLS:C4021607 human_phenotype owl:Class HP:0033030 biolink:NamedThing Anti-glomerular basement membrane-antibody positivity The presence of autoantibodies in the serum that react to the glomerular basement membrane. hp0009lx5z Anti-GBM-antibody positivity Anti-GBM-antibodies are found in Goodpasture syndrome. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). peter owl:Class HP:0033177 biolink:NamedThing Elevated circulating suberic acid concentration An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. hp0009lx5z 2020-09-25 12:49:42+00:00 peter owl:Class HP:0010995 biolink:NamedThing Abnormal circulating dicarboxylic acid concentration Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. hp0009lx5z A dicarboxylic acid is an oxoacid containing two carboxy groups. peter 2011-02-10T02:01:02Z UMLS:C4023606 owl:Class HP:0010035 biolink:NamedThing Aplasia of the 1st metacarpal Absent first metacarpal (long bone) of the hand. hp0009lx5z Absent 1st long bone of hand|Absent first metacarpal In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. doelkens 2009-05-27T04:25:14Z HP:0006027 UMLS:C1838610 human_phenotype owl:Class HP:0010242 biolink:NamedThing Aplasia of the proximal phalanges of the hand hp0009lx5z Absent proximal phalanges|Absent innermost bones doelkens 2009-07-06T04:01:02Z HP:0006102 UMLS:C4021302 human_phenotype owl:Class HP:0010812 biolink:NamedThing Short uvula Decreased length of the uvula. hp0009lx5z Hypoplastic uvula|Blunt uvula|Short palatine uvula Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. peter 2010-07-05T10:26:47Z UMLS:C1401781 owl:Class HP:0010293 biolink:NamedThing Aplasia/Hypoplasia of the uvula Underdevelopment or absence of the uvula. hp0009lx5z Aplasia/hypoplasia of palatine uvula peter 2009-07-12T11:36:52Z UMLS:C4023917 owl:Class HP:0031098 biolink:NamedThing Decreased thyroid-stimulating hormone level Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. hp0009lx5z Decreased plasma TSH|Decreased thyrotropin level 2017-05-30 02:13:11+00:00 peter owl:Class HP:0031097 biolink:NamedThing Abnormal thyroid-stimulating hormone level Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. hp0009lx5z Abnormal circulating thyrotropin concentration|Abnormal thyrotropin level|Abnormal TSH level 2017-05-30 02:12:45+00:00 peter owl:Class HP:0030038 biolink:NamedThing Enchondroma A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. hp0009lx5z Most patients have no symptoms. Enchondromas are often identified as incidental findings on X-ray examinations. Enchondromas usually have a radiographic appearance that is long and oval with well-defined margins. MSH:D002812|SNOMEDCT_US:31186001|UMLS:C1704356|SNOMEDCT_US:423699002 owl:Class HP:0010622 biolink:NamedThing Neoplasm of the skeletal system A tumor (abnormal growth of tissue) of the skeleton. hp0009lx5z Skeletal tumor|Bone neoplasm|Skeletal tumour|Neoplasia of the skeletal system peter 2010-06-25T08:54:46Z UMLS:C2732838|SNOMEDCT_US:442868003|NCIT:C3262|UMLS:C4020771 human_phenotype owl:Class HP:0008780 biolink:NamedThing Congenital bilateral hip dislocation hp0009lx5z UMLS:C0158713|SNOMEDCT_US:10155006 human_phenotype owl:Class HP:0001374 biolink:NamedThing Congenital hip dislocation hp0009lx5z Congenital hip dislocations|Congenital dislocation of the hip|Congenital dislocation of the hips|Dislocated hip since birth|Congenital hip anomaly SNOMEDCT_US:48334007|MSH:D006618|SNOMEDCT_US:52781008|UMLS:C0019555 human_phenotype owl:Class HP:0012600 biolink:NamedThing Abnormal urine chloride concentration An abnormal concentration of chloride in the urine. hp0009lx5z Abnormal urine Cl- concentration|Abnormal urine Cl concentration peter 2014-01-16T06:16:24Z UMLS:C4022827 human_phenotype owl:Class HP:0012591 biolink:NamedThing Abnormal urinary electrolyte concentration An abnormality in the concentration of electrolytes in the urine. hp0009lx5z Urinary electrolyte imbalance peter 2014-01-16T05:44:11Z UMLS:C4022833 owl:Class HP:0032874 biolink:NamedThing Focal impaired awareness cognitive seizure with auditory agnosia A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0032756 biolink:NamedThing Focal impaired awareness cognitive seizure A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter HP:0032875|HP:0032931 owl:Class HP:0006739 biolink:NamedThing Squamous cell carcinoma of the skin Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. hp0009lx5z Squamous skin carcinoma HP:0007614 SNOMEDCT_US:254651007|UMLS:C0553723 human_phenotype owl:Class HP:0002860 biolink:NamedThing Squamous cell carcinoma The presence of squamous cell carcinoma of the skin. hp0009lx5z Squamous cell cancer MSH:D002294|SNOMEDCT_US:28899001|SNOMEDCT_US:402815007|UMLS:C0751688|MSH:D018307|UMLS:C0007137|NCIT:C2929 human_phenotype owl:Class HP:0000297 biolink:NamedThing Facial hypotonia Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). hp0009lx5z Decreased facial muscle tone|Low facial muscle tone|Reduced facial muscle tone|Atony of facial musculature|Hypotonic facies UMLS:C4280646|UMLS:C1845251 human_phenotype owl:Class HP:0000301 biolink:NamedThing Abnormality of facial musculature An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). hp0009lx5z Facial muscle issue|Abnormality of facial muscles Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. UMLS:C4025865 human_phenotype owl:Class HP:0009410 biolink:NamedThing Absent epiphyses of the 3rd finger Absence of the epiphyses of the 3rd finger. hp0009lx5z Absent end part of middle finger bone doelkens 2009-01-14T02:01:59Z UMLS:C4024383 human_phenotype owl:Class HP:0010228 biolink:NamedThing Absent epiphyses of the phalanges of the hand Absence of one or more epiphyses of the phalanges of the fingers. hp0009lx5z Absent end part of fingers|Absent epiphyses of the fingers doelkens 2009-07-06T03:31:52Z HP:0009359 UMLS:C4021310 human_phenotype owl:Class HP:0010369 biolink:NamedThing Abnormality of the middle phalanx of the 3rd toe hp0009lx5z Abnormality of the middle bone of 3rd toe doelkens 2009-07-16T11:51:17Z UMLS:C4023877 human_phenotype owl:Class HP:0010330 biolink:NamedThing Abnormality of the phalanges of the 3rd toe hp0009lx5z Abnormality of the bones of the 3rd toe doelkens 2009-07-16T11:40:52Z UMLS:C4023899 human_phenotype owl:Class HP:0010616 biolink:NamedThing Lung fibroma The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule. hp0009lx5z sandra1 2009-10-28T06:04:01Z NCIT:C3041|SNOMEDCT_US:707387004|UMLS:C1334444 human_phenotype owl:Class HP:0010614 biolink:NamedThing Fibroma Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. hp0009lx5z sandra1 2009-10-28T05:52:39Z MSH:D005350|SNOMEDCT_US:424568000|SNOMEDCT_US:112682009|UMLS:C0016045|NCIT:C3041 human_phenotype owl:Class HP:0003206 biolink:NamedThing Decreased activity of NADPH oxidase hp0009lx5z UMLS:C1844394 human_phenotype owl:Class HP:0004358 biolink:NamedThing Abnormality of superoxide metabolism hp0009lx5z NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing. peter 2008-03-17T03:22:00Z UMLS:C4025340 human_phenotype owl:Class HP:0031762 biolink:NamedThing Distance esotropia An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging. hp0009lx5z Divergence insufficiency 2018-01-21 14:47:19+00:00 peter owl:Class HP:0031760 biolink:NamedThing Non-accomodative esotropia A form of esotropia in which the angle of deviation is not affected by accommodative effort. hp0009lx5z 2018-01-21 14:46:28+00:00 peter owl:Class HP:0002936 biolink:NamedThing Distal sensory impairment An abnormal reduction in sensation in the distal portions of the extremities. hp0009lx5z Distal sensory loss|Decreased sensation in extremities|Distal sensory impairment in lower limbs|Distal sensory impairment of the lower extremities|Decreased distal sensation|Distal sensation loss|Distal sensory loss, upper and lower limbs|Loss of distal sensation HP:0007292|HP:0006922|HP:0007296|HP:0007138|HP:0006993|HP:0003476|HP:0006971|HP:0006843|HP:0006845 UMLS:C1847584 owl:Class HP:0003474 biolink:NamedThing Somatic sensory dysfunction An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. hp0009lx5z Sensory impairment This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia. HP:0100964 UMLS:C0020580|SNOMEDCT_US:397974008|SNOMEDCT_US:59073000|SNOMEDCT_US:398026008|MSH:D006987 owl:Class HP:3000010 biolink:NamedThing Abnormality of orbicularis oris muscle An abnormality of an orbicularis oris muscle. hp0009lx5z vasilevs 2015-02-26T03:55:58Z UMLS:C4073219 human_phenotype owl:Class HP:0430019 biolink:NamedThing Abnormality of muscle of facial expression An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression. hp0009lx5z Abnormality of musculature of facial expression|Abnormality of muscle of facial expression UMLS:C4073201 owl:Class HP:0009733 biolink:NamedThing Glioma The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). hp0009lx5z Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas. peter 2009-01-31T11:15:22Z SNOMEDCT_US:393564001|UMLS:C0017638|SNOMEDCT_US:74532006|NCIT:C3059|MSH:D005910|SNOMEDCT_US:115240006 human_phenotype owl:Class HP:0030063 biolink:NamedThing Neuroepithelial neoplasm A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium. hp0009lx5z UMLS:C0206715|MSH:D018302 owl:Class HP:0002032 biolink:NamedThing Esophageal atresia A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. hp0009lx5z Birth defect in which part of oesophagus did not develop|Birth defect in which part of esophagus did not develop SNOMEDCT_US:26179002|UMLS:C0014850|MSH:D004933|Fyler:4412 human_phenotype owl:Class HP:0002031 biolink:NamedThing Abnormal esophagus morphology A structural abnormality of the esophagus. hp0009lx5z Abnormality of esophagus structure|Abnormal oesophagus morphology|Anomaly of the esophagus|Anomaly of the oesophagus|Abnormality of oesophagus structure UMLS:C0266126|SNOMEDCT_US:69771008 owl:Class HP:0006155 biolink:NamedThing Long phalanx of finger Increased length of multiple or a single phalanx of finger. hp0009lx5z Long finger bone UMLS:C4025087 human_phenotype owl:Class HP:0005918 biolink:NamedThing Abnormal finger phalanx morphology Abnormalities affecting the phalanx of finger. hp0009lx5z Abnormality of the phalanges of the hand|Abnormal form of phalanges of the hand|Abnormality of the phalanges|Abnormality of the finger bones|Abnormality of phalanx of finger This category is a supercategory for abnormalties affect phalanges of the hand. peter 2008-03-27T02:19:00Z HP:0005786|HP:0006259 UMLS:C4021614 human_phenotype owl:Class HP:0033367 biolink:NamedThing Orthodeoxia Low level of blood oxygen induced by changing from a recumbent to an upright position. hp0009lx5z 2020-12-16 11:53:55+00:00 peter owl:Class HP:0012418 biolink:NamedThing Hypoxemia An abnormally low level of blood oxygen. hp0009lx5z Hypoxia|Low blood oxygen level Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value. peter 2013-11-10T05:07:07Z MSH:D000860|UMLS:C0700292|SNOMEDCT_US:389087006 human_phenotype owl:Class HP:0032813 biolink:NamedThing Neonatal electro-clinical motor seizure Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features. hp0009lx5z Neonatal motor seizures may be further sub-classified as seizures occurring with presentations such as: automatisms, clonic, epileptic spams, myoclonic, sequential, tonic. peter owl:Class HP:0032809 biolink:NamedThing Neonatal electro-clinical seizure Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation. hp0009lx5z The predominant clinical feature defines the neonatal electro-clinical seizure sub-types; unlike in adults, where the semiology at onset defines the seizure type. peter owl:Class HP:0002161 biolink:NamedThing Hyperlysinemia An increased concentration of lysine in the blood. hp0009lx5z Elevated blood lysine Normal blood lysine levels are around 180-200 micromole per liter. UMLS:C0268553|SNOMEDCT_US:58558003|MSH:D020167 human_phenotype owl:Class HP:0010908 biolink:NamedThing Abnormal circulating lysine concentration Any deviation from the normal concentration of lysine in the blood circulation. hp0009lx5z Abnormality of lysine metabolism peter 2010-12-08T08:05:55Z UMLS:C4023660 human_phenotype owl:Class HP:0009438 biolink:NamedThing Absent middle phalanx of 3rd finger Absence of the middle phalanx of the middle (3rd) finger. hp0009lx5z Absent middle bone of middle finger|Aplasia of the middle phalanx of the 3rd finger|Absent middle phalanx of middle finger doelkens 2009-01-14T03:45:02Z HP:0004173 UMLS:C4021475 human_phenotype owl:Class HP:0009460 biolink:NamedThing Aplasia of the 3rd finger Absent 3rd finger. hp0009lx5z Absent middle finger doelkens 2009-01-14T04:56:33Z UMLS:C4024346 human_phenotype owl:Class HP:0005407 biolink:NamedThing Decreased proportion of CD4-positive helper T cells A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count. hp0009lx5z Abnormality of CD4+ T cells|CD4 T cell lymphopenia|CD4+ T-cell lymphopenia HP:0005480 UMLS:C1839304 human_phenotype owl:Class HP:0005403 biolink:NamedThing T lymphocytopenia An abnormally low count of T cells. hp0009lx5z Low T cell count|Decrease in T cell number|Reduced number of T cells|Decrease in T cell count|Decreased numbers of circulating T cells HP:0005412|HP:0045071 UMLS:C2931322|MSH:C536783 human_phenotype owl:Class HP:0031829 biolink:NamedThing Absent cremaster reflex Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex. hp0009lx5z Absent cremasteric reflex 2018-05-02 01:11:18+00:00 peter owl:Class HP:0031828 biolink:NamedThing Abnormal superficial reflex An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons. hp0009lx5z 2018-05-02 01:09:04+00:00 peter owl:Class HP:0009585 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 2nd finger Uneven (irregular) increase in bone density of the proximal phalanx of the second finger. hp0009lx5z Uneven increase in bone density in innermost index finger bone doelkens 2009-01-28T05:26:39Z UMLS:C4024278 human_phenotype owl:Class HP:0100908 biolink:NamedThing Sclerosis of the proximal phalanx of the 2nd finger hp0009lx5z Increased bone density in the innermost bone of the index finger UMLS:C4021934 human_phenotype owl:Class HP:0002539 biolink:NamedThing Cortical dysplasia The presence of developmental dysplasia of the cerebral cortex. hp0009lx5z Neocortical dysplasia HP:0007139 MSH:D054220|UMLS:C0431380|SNOMEDCT_US:253153000 human_phenotype owl:Class HP:0002538 biolink:NamedThing Abnormal cerebral cortex morphology Any structural abnormality of the cerebral cortex. hp0009lx5z Abnormality of the cerebral cortex The cerebral cortex constitutes more than half the volume of the human brain and is presumed to be responsible for the neuronal computations underlying complex phenomena, such as perception, thought, language, attention, episodic memory and voluntary movement. UMLS:C4025701 owl:Class HP:0002135 biolink:NamedThing Basal ganglia calcification The presence of calcium deposition affecting one or more structures of the basal ganglia. hp0009lx5z Basal ganglion calcification|Calcification of the basal ganglia|Basal ganglia calcifications HP:0002485 UMLS:C1389280 human_phenotype owl:Class HP:0002514 biolink:NamedThing Cerebral calcification The presence of calcium deposition within brain structures. hp0009lx5z Intracranial calcifications|Intracerebral calcifications|Brain calcification|Intracranial calcification|Abnormal deposits of calcium in the brain This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. HP:0002502|HP:0006848|HP:0005806 SNOMEDCT_US:17944005|UMLS:C0270685 human_phenotype owl:Class HP:0008528 biolink:NamedThing Long hairs growing from helix of pinna hp0009lx5z Long hairs growing from helix of ear|Ear hair UMLS:C4024657|UMLS:C0222050|SNOMEDCT_US:27394002 human_phenotype owl:Class HP:0011039 biolink:NamedThing Abnormality of the helix An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. hp0009lx5z Abnormal helices|Helix abnormal peter 2011-03-06T04:41:34Z HP:0000380 UMLS:C1856660 human_phenotype owl:Class HP:0007437 biolink:NamedThing Multiple cutaneous leiomyomas The presence of multiple leiomyomas of the skin. hp0009lx5z NCIT:C3157|UMLS:C1708350|MSH:C535516 human_phenotype owl:Class HP:0008069 biolink:NamedThing Neoplasm of the skin A tumor (abnormal growth of tissue) of the skin. hp0009lx5z Skin tumours|Skin tumors|Tumour of the skin|Tumor of the skin|Dermatological tumors|Skin cancer|Skin cancer (non-melanoma)|Neoplasia of the skin|Dermatological tumours peter 2008-04-02T04:01:00Z SNOMEDCT_US:372130007|NCIT:C3262|UMLS:C0037286|UMLS:C0007114|SNOMEDCT_US:126488004|MSH:D012878 human_phenotype owl:Class HP:0031798 biolink:NamedThing Elevated circulating apolipoprotein B concentration Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. hp0009lx5z Elevated ApoB level|Elevated apolipoprotein B level 2018-02-25 15:02:46+00:00 peter owl:Class HP:0033460 biolink:NamedThing Increased circulating apolipoprotein circulation Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein). hp0009lx5z 2021-01-09 22:18:42+00:00 peter owl:Class HP:0012296 biolink:NamedThing Slender distal phalanx of finger Reduced diameter of the distal phalanx of finger. hp0009lx5z Slender outermost bone of finger peter 2013-04-12T05:42:46Z UMLS:C4022962 human_phenotype owl:Class HP:0009832 biolink:NamedThing Abnormal distal phalanx morphology of finger Any anomaly of distal phalanx of finger. hp0009lx5z Abnormality of the distal phalanges of the hand|Abnormality of the outermost finger bone|Abnormality of the distal phalanx of finger|Abnormal terminal phalanges of the hand doelkens 2009-03-11T12:01:39Z HP:0005919 UMLS:C4021385 human_phenotype owl:Class HP:0032065 biolink:NamedThing Abnormal serum bicarbonate concentration Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation. hp0009lx5z Abnormal serum HCO3 concentration 2018-09-23 14:32:07+00:00 Bicarbonate represents the second largest category of anions in plasma. The measurement of bicarbonate also captures carbonate (CO3[-2]) ions, carbon dioxide in solution, and carbamino compounds but the latter represent a tiny fraction of the total measured amount. peter owl:Class HP:0004360 biolink:NamedThing Abnormality of acid-base homeostasis An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. hp0009lx5z Acid base imbalance peter 2008-03-17T03:35:00Z MSH:D000137|UMLS:C0001118 human_phenotype owl:Class HP:0032868 biolink:NamedThing Super-refractory status epilepticus Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent. hp0009lx5z peter owl:Class HP:0032867 biolink:NamedThing Refractory status epilepticus Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine. hp0009lx5z peter owl:Class HP:0009588 biolink:NamedThing Vestibular Schwannoma A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear. hp0009lx5z Vestibular Schwann cell tumor|Vestibular neurinoma|Vestibular Schwann cell tumour|Acoustic Neuroma|Vestibular neurolemmoma|Vestibular neurilemmoma peter 2009-01-28T10:37:32Z SNOMEDCT_US:126949007|MSH:D009464|NCIT:C3269|UMLS:C0027859|SNOMEDCT_US:985004 human_phenotype owl:Class HP:0100008 biolink:NamedThing Schwannoma A benign nerve sheath tumor composed of Schwann cells. hp0009lx5z Neurilemmoma|Schwann cell tumor|Neurolemmoma|Schwannomas|Neurinoma|Schwann cell tumour Glial cells are cells that support nerve cells. Schwann cells wrap around the axon to form the myelin sheath. Schwann cells are involved in many important aspects of peripheral nerve biology; the conduction of nervous impulses along axons, nerve development and regeneration, trophic support for neurons, production of the nerve extracellular matrix and presentation of antigens to T-lymphocytes. Charcot-Marie-Tooth disease (CMT), Guillain-Barre syndrome (GBS), schwannomatosis and chronic inflammatory demyelinating polyneuropathy (CIDP) are all neuropathies involving Schwann cells. doelkens 2010-05-14T09:13:07Z SNOMEDCT_US:404022001|MSH:D009442|SNOMEDCT_US:985004|UMLS:C0027809 human_phenotype owl:Class HP:0007280 biolink:NamedThing Acute infantile spinal muscular atrophy hp0009lx5z UMLS:C4024911 human_phenotype owl:Class HP:0007269 biolink:NamedThing Spinal muscular atrophy Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. hp0009lx5z Spinal muscle degeneration|Spinal muscle wasting UMLS:C0026847|SNOMEDCT_US:5262007|MSH:D009134 human_phenotype owl:Class HP:0040034 biolink:NamedThing Abnormality of the second metatarsal bone hp0009lx5z Abnormality of the 2nd long bone of foot HPO:skoehler UMLS:C4022479 owl:Class HP:0001832 biolink:NamedThing Abnormal metatarsal morphology Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). hp0009lx5z Abnormality of the long bone of foot UMLS:C4025745 owl:Class HP:0003856 biolink:NamedThing Upper limb metaphyseal widening Increased width (breadth) of metaphyses of the arms. hp0009lx5z Broad wide portion of upper limb bone|Wide/broad metaphyses of the upper limbs UMLS:C4021719 human_phenotype owl:Class HP:0009809 biolink:NamedThing Abnormality of upper limb metaphysis An anomaly of one or more metaphyses of the arms. hp0009lx5z Abnormality of the wide portion of upper limb bone|Metaphyseal abnormality of the upper limbs doelkens 2009-02-23T04:55:36Z HP:0003847 UMLS:C4021388 human_phenotype owl:Class HP:0100244 biolink:NamedThing Fibrosarcoma A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells. hp0009lx5z doelkens 2010-07-08T10:55:40Z UMLS:C0016057|NCIT:C6605|MSH:D005354|SNOMEDCT_US:53654007|SNOMEDCT_US:443250000 human_phenotype owl:Class HP:0030448 biolink:NamedThing Soft tissue sarcoma A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues. hp0009lx5z Soft tissue sarcomas Soft tissue sarcomas can be found in any part of the body but most often originate in the arms or legs. They can also be found in the trunk, head and neck area, internal organs, and in the retroperitoneum. SNOMEDCT_US:424413001|MSH:D012509|SNOMEDCT_US:2424003|UMLS:C1261473|SNOMEDCT_US:424952003|SNOMEDCT_US:269469005 owl:Class HP:0010200 biolink:NamedThing Symphalangism affecting the middle phalanges of the toes hp0009lx5z Fused middle bones of toes doelkens 2009-05-29T01:53:35Z UMLS:C4023973 human_phenotype owl:Class HP:0010179 biolink:NamedThing Symphalangism affecting the phalanges of the toes hp0009lx5z Fused toe bones doelkens 2009-05-29T01:39:26Z UMLS:C4023984 human_phenotype owl:Class HP:0009289 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 4th finger hp0009lx5z Absent/underdeveloped outermost ring finger bone|Absent/small outermost ring finger bone doelkens 2009-01-08T03:59:04Z UMLS:C4024466 human_phenotype owl:Class HP:0009408 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 4th finger hp0009lx5z Absent/small ring finger bones|Absent/underdeveloped ring finger bones doelkens 2009-01-13T02:37:29Z UMLS:C4024384 human_phenotype owl:Class HP:0004664 biolink:NamedThing Facial midline hemangioma Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face. hp0009lx5z UMLS:C1862496 human_phenotype owl:Class HP:0000329 biolink:NamedThing Facial hemangioma Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. hp0009lx5z Facial hemangiomata UMLS:C1861443 human_phenotype owl:Class HP:0009550 biolink:NamedThing Osteolytic defects of the phalanges of the 2nd finger hp0009lx5z Lytic defect in index finger phalanges doelkens 2009-01-21T10:20:26Z HP:0004114 UMLS:C4021443 human_phenotype owl:Class HP:0009541 biolink:NamedThing Abnormality of the phalanges of the 2nd finger Abnormality of the phalanges of the 2nd (index) finger. hp0009lx5z Abnormal index finger bones|Abnormality of 2nd finger phalanges doelkens 2009-01-21T10:15:07Z HP:0004105 UMLS:C4021450 human_phenotype owl:Class HP:0009626 biolink:NamedThing Contractures of the interphalangeal joint of the thumb Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis. hp0009lx5z Interphalangeal extension contractures of thumbs doelkens 2009-01-29T04:52:18Z HP:0005697 UMLS:C2108146 human_phenotype owl:Class HP:0009600 biolink:NamedThing Flexion contracture of thumb Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. hp0009lx5z Contracture of thumb|Joint contractures of the thumb|Flexion deformities of thumbs doelkens 2009-01-29T01:06:31Z HP:0004061|HP:0006043 UMLS:C0409346|SNOMEDCT_US:239736003 human_phenotype owl:Class HP:0011320 biolink:NamedThing Unilambdoid synostosis Premature synostosis of only one lambdoid suture. hp0009lx5z Unilateral lambdoid craniosynostosis|Unilateral lambdoid suture synostosis peter 2012-02-25T01:13:20Z UMLS:C4021162 owl:Class HP:0004443 biolink:NamedThing Lambdoidal craniosynostosis A kind of craniosynostosis affecting the lambdoidal suture. hp0009lx5z Lambdoid suture synostosis|Lambdoid suture craniosynostosis peter 2008-03-18T10:01:00Z HP:0004486 SNOMEDCT_US:109417006|UMLS:C1833340|MSH:D003398 owl:Class HP:0011227 biolink:NamedThing Elevated circulating C-reactive protein concentration An abnormal elevation of the C-reactive protein level in the blood circulation. hp0009lx5z Elevated C-reactive protein level|Elevated CRP C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. peter 2011-12-13T11:04:10Z UMLS:C0742906|UMLS:C4023452 owl:Class HP:0032436 biolink:NamedThing Abnormal C-reactive protein level Any deviation from the normal concentration of C-reactive protein in the blood circulation. hp0009lx5z 2019-03-02 15:10:11+00:00 C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. peter owl:Class HP:0008244 biolink:NamedThing Congenital adrenal hypoplasia A type of adrenal hypoplasia with congenital onset. hp0009lx5z Congenital adrenal gland hypoplasia HP:0008246 SNOMEDCT_US:93235007|UMLS:C0220766 human_phenotype owl:Class HP:0000835 biolink:NamedThing Adrenal hypoplasia Developmental hypoplasia of the adrenal glands. hp0009lx5z Underdeveloped adrenal glands|Hypoplastic adrenal glands|Small adrenal glands|Adrenal gland hypoplasia UMLS:C0342491|SNOMEDCT_US:237774001|UMLS:C1846223|MSH:C538429 owl:Class HP:0012896 biolink:NamedThing Abnormal motor evoked potentials An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways. hp0009lx5z peter 2014-06-23T11:04:24Z UMLS:C4022687 human_phenotype owl:Class HP:0030178 biolink:NamedThing Abnormality of central nervous system electrophysiology hp0009lx5z Abnormality of CNS electrophysiology UMLS:C4022597 owl:Class HP:0005556 biolink:NamedThing Abnormality of the metopic suture The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture". hp0009lx5z peter 2008-03-27T10:04:00Z UMLS:C4025180 human_phenotype owl:Class HP:0000290 biolink:NamedThing Abnormality of the forehead An anomaly of the forehead. hp0009lx5z Abnormality of the forehead|Abnormality of the frontal region of the face|Anomaly of the forehead|Malformation of the forehead|Deformity of the forehead UMLS:C4025867 human_phenotype owl:Class HP:0031290 biolink:NamedThing Tuberous xanthoma A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes. hp0009lx5z 2017-08-13 21:03:22+00:00 peter owl:Class HP:0000991 biolink:NamedThing Xanthomatosis The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. hp0009lx5z Yellow bumps of fatty deposits on skin|Xanthomata SNOMEDCT_US:63103006|MSH:D014973|UMLS:C0043325 human_phenotype owl:Class HP:0031805 biolink:NamedThing Intraretinal hemorrhage A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. hp0009lx5z Intraretinal haemorrhage 2018-03-07 15:35:11+00:00 Although the fundoscopic appearence of an intraretinal hemorrhage can exibit significant variability it can typically be distinguished from a subretinal hemorrhage (occuring between the neurosensory retina and the RPE) or a sub-ILM hemorrhage (occuring between the internal limiting membrane and the neurosensory retina). peter owl:Class HP:0000573 biolink:NamedThing Retinal hemorrhage Hemorrhage occurring within the retina. hp0009lx5z Retinal bleeding|Retinal haemorrhage|Retinal haemorrhages|Retinal hemorrhages The type of retinal hemorrhage and its clinical appearance depends on its location within the retina. MSH:D012166|UMLS:C0035317|SNOMEDCT_US:28998008 human_phenotype owl:Class HP:0032455 biolink:NamedThing Reduced granulocyte CD18 level Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry. hp0009lx5z 2019-03-08 11:13:04+00:00 The beta2 integrin (CD18) expressed on leukocytes can pair with several alpha integrin subunits, and each alpha-beta pairing can bind a variety of ligands, including the counterreceptors ICAM-1, -2 and -3, fibrinogen, the complement fragment iC3b, and polysaccharides. peter owl:Class HP:0031553 biolink:NamedThing Reduced granulocyte surface marker level Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry. hp0009lx5z 2017-09-24 23:21:50+00:00 peter owl:Class HP:0025484 biolink:NamedThing Increased circulating thyroglobulin level An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. hp0009lx5z 2017-05-14 16:15:57+00:00 HPO:probinson owl:Class HP:0025483 biolink:NamedThing Abnormal circulating thyroglobulin level A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. hp0009lx5z 2017-05-14 16:14:10+00:00 HPO:probinson owl:Class HP:0410251 biolink:NamedThing Abnormal L-selectin shedding An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection. hp0009lx5z 2018-10-19 17:56:39+00:00 owl:Class HP:0011990 biolink:NamedThing Abnormality of neutrophil physiology A functional abnormality of neutrophils. hp0009lx5z peter 2012-07-19T10:56:37Z UMLS:C4023093 human_phenotype owl:Class HP:0002009 biolink:NamedThing Potter facies A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. hp0009lx5z Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance. UMLS:C0266619|SNOMEDCT_US:24814002 human_phenotype owl:Class HP:0011334 biolink:NamedThing Facial shape deformation hp0009lx5z Facial shape compression|Distortion of facial shape|Facial shape deformation peter 2012-02-25T05:10:19Z UMLS:C4021159 human_phenotype owl:Class HP:0002235 biolink:NamedThing Pili canaliculi Uncombable hair. hp0009lx5z HP:0002285 UMLS:C1860608 human_phenotype owl:Class HP:0003328 biolink:NamedThing Abnormal hair laboratory examination hp0009lx5z UMLS:C4025632 human_phenotype owl:Class HP:0010855 biolink:NamedThing EEG with localized low amplitude activity An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). hp0009lx5z EEG with localised low amplitude activity|EEG: localised low amplitude activity peter 2010-07-11T08:36:03Z UMLS:C4021213 human_phenotype owl:Class HP:0011201 biolink:NamedThing EEG with changes in voltage EEG with abnormal amplitude. hp0009lx5z hecht 2011-11-19T11:20:13Z UMLS:C4023473 human_phenotype owl:Class HP:0032119 biolink:NamedThing Narrow angle glaucoma A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle. hp0009lx5z 2018-11-17 15:31:48+00:00 peter owl:Class HP:0000501 biolink:NamedThing Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. hp0009lx5z The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. MSH:D005901|SNOMEDCT_US:23986001|UMLS:C0017601 human_phenotype owl:Class HP:0100350 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 4th toe The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively. hp0009lx5z Contracture of the innermost hinge joint of the 4th toe|Camptodactyly of the 4th toe|Camptodactyly of the fourth toe UMLS:C4021017 human_phenotype owl:Class HP:0010339 biolink:NamedThing Flexion contracture of the 4th toe One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively. hp0009lx5z Joint contractures of the 4th toe doelkens 2009-07-16T11:41:21Z UMLS:C4021292 human_phenotype owl:Class HP:0006257 biolink:NamedThing Abnormality of carpal bone ossification hp0009lx5z Abnormal ankle bone maturation peter 2008-03-28T02:29:00Z UMLS:C4025075 human_phenotype owl:Class HP:0010660 biolink:NamedThing Abnormal hand bone ossification An abnormality of the formation and mineralization of any bone of the skeleton of hand. hp0009lx5z Abnormal ossification of hand bones|Abnormal maturation of the hand bones|Abnormality of the mineralisation and ossification of bones of the hand doelkens 2010-02-25T05:18:19Z HP:0005921 UMLS:C4021244 human_phenotype owl:Class HP:0001215 biolink:NamedThing Camptodactyly of 2nd-5th fingers The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. hp0009lx5z UMLS:C1859368 human_phenotype owl:Class HP:0100490 biolink:NamedThing Camptodactyly of finger The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. hp0009lx5z Flexion contractures of proximal interphalangeal joints|Proximal interphalangeal finger joint contractures|Permanent flexion of the finger|Camptodactyly of hands|Contractures of the proximal interphalangeal joints of the fingers|Camptodactyly of proximal interphalangeal joint Note that some restrict the use of the term to inability to extend the proximal interphalangeal joint of the fifth finger. We do not restrict the term in this way. This term should not be used if the patient has Clenched hand. A similar effect can be created by radial angulation within the distal phalanx with thickening of the epiphysis, which is called Kirner deformity or dystelephalangy. The affected digits should be specified. doelkens 2010-12-14T10:46:57Z HP:0006195|HP:0006218|HP:0005801|HP:0009698|HP:0006240|HP:0005821|HP:0005662|HP:0005713|HP:0005651 SNOMEDCT_US:202281000|UMLS:C0409348 human_phenotype owl:Class HP:0005223 biolink:NamedThing Duplicated colon hp0009lx5z UMLS:C1850328 human_phenotype owl:Class HP:0100668 biolink:NamedThing Intestinal duplication A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine. hp0009lx5z Gut duplication|Bowel duplication doelkens 2010-12-30T01:23:50Z SNOMEDCT_US:3845008|UMLS:C0266166|UMLS:C4020702 human_phenotype owl:Class HP:0009688 biolink:NamedThing Cone-shaped epiphysis of the thumb A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. hp0009lx5z Cone-shaped end part of thumb long bone|Cone-shaped thumb epiphyses|Cone-shaped epiphyses of the thumb doelkens 2009-01-30T09:20:16Z HP:0004075 UMLS:C4021407 human_phenotype owl:Class HP:0009599 biolink:NamedThing Abnormality of thumb epiphysis Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal. hp0009lx5z Abnormality of end part of thumb long bone|Abnormality of the epiphyses of the thumb|Abnormality of thumb epiphyses In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). doelkens 2009-01-29T11:46:15Z HP:0004074 UMLS:C4021429 human_phenotype owl:Class HP:0100320 biolink:NamedThing Rosenthal fibers Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders. hp0009lx5z Rosenthal fibres doelkens 2010-08-10T03:46:31Z UMLS:C0333731|SNOMEDCT_US:84605001 human_phenotype owl:Class HP:0100314 biolink:NamedThing Cerebral inclusion bodies Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. hp0009lx5z Inclusion bodies are usually derived from proteins. doelkens 2010-08-10T03:31:18Z UMLS:C4022149 human_phenotype owl:Class HP:0006937 biolink:NamedThing Impaired distal tactile sensation A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. hp0009lx5z Decreased distal touch sense|Decreased touch sensation in extremities HP:0006981 UMLS:C4021583 human_phenotype owl:Class HP:0012089 biolink:NamedThing Arteritis Arterial inflammation. hp0009lx5z Inflammation of artery peter 2012-08-20T09:15:19Z SNOMEDCT_US:52089001|MSH:D001167|UMLS:C0003860 human_phenotype owl:Class HP:0011004 biolink:NamedThing Abnormal systemic arterial morphology An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. hp0009lx5z Systemic artery abnormality|Abnormality of the systemic arterial tree|Abnormal systemic artery morphology|Arterial abnormalities peter 2011-02-16T08:46:49Z HP:0005114|HP:0002620 Fyler:2600|UMLS:C0151489|UMLS:C4021205|SNOMEDCT_US:234119001 human_phenotype owl:Class HP:0002960 biolink:NamedThing Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues. hp0009lx5z Autoimmune disease|Autoimmune condition|Autoimmune disorder|Autoimmunity SNOMEDCT_US:85828009|MSH:D001327|UMLS:C0004364 human_phenotype owl:Class HP:0011335 biolink:NamedThing Frontal hirsutism Excessive amount of hair growth on forehead. hp0009lx5z Hairy forehead|Hirsute forehead peter 2012-02-25T05:21:59Z UMLS:C1839830 human_phenotype owl:Class HP:0009281 biolink:NamedThing Aplasia of the 4th finger Absent 4th finger. hp0009lx5z Absent ring finger doelkens 2009-01-07T04:28:08Z UMLS:C4024472 human_phenotype owl:Class HP:0009272 biolink:NamedThing Aplasia/Hypoplasia of the 4th finger A small/hypoplastic or absent/aplastic 4th (ring) finger. hp0009lx5z Absent/small ring finger bone|Absent/underdeveloped ring finger bone doelkens 2009-01-07T04:01:26Z UMLS:C4024478 human_phenotype owl:Class HP:0041179 biolink:NamedThing Fractured distal phalanx of manual digit 5 A partial or complete breakage of the distal phalanx of manual digit 5. hp0009lx5z bone distal phalanx of manual digit 5 owl:Class HP:0004225 biolink:NamedThing Abnormality of the distal phalanx of the 5th finger Abnormality of the distal phalanx of the 5th (little) finger. hp0009lx5z Abnormality of the distal phalanx of the little finger|Abnormality of the outermost little finger bone|Abnormality of the outermost pinky finger bone|Abnormality of the terminal phalanx of the little finger|Abnormality of the outermost pinkie finger bone UMLS:C4021673 human_phenotype owl:Class HP:0003034 biolink:NamedThing Diaphyseal sclerosis An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Craniodiaphyseal osteosclerosis|Diaphyseal osteosclerosis|Increased bone density in shaft of long bone HP:0005611 SNOMEDCT_US:318761000119105|MSH:D003966|SNOMEDCT_US:34643004|UMLS:C0011989 human_phenotype owl:Class HP:0000940 biolink:NamedThing Abnormal diaphysis morphology An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. hp0009lx5z Abnormality of shaft of long bone of the limbs|Abnormality involving the diaphyses of the limbs|Abnormal shape of shaft of long bone|Anomaly of the limb diaphyses morphology|Anomaly of the limb diaphyses|Abnormality of the diaphyses HP:0006504 UMLS:C4021787 human_phenotype owl:Class HP:0001708 biolink:NamedThing Right ventricular failure Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. hp0009lx5z Right-sided heart failure|Impaired right ventricular function|Right ventricular impairment UMLS:C2939447|MSH:D006333|SNOMEDCT_US:128404006|SNOMEDCT_US:367363000|UMLS:C0235527 human_phenotype owl:Class HP:0033118 biolink:NamedThing Abnormal right ventricular function Anomalous physiology (function) of the right ventricle. hp0009lx5z 2020-09-03 12:06:13+00:00 peter owl:Class HP:0004244 biolink:NamedThing Accessory scaphoid hp0009lx5z UMLS:C4025396 human_phenotype owl:Class HP:0004232 biolink:NamedThing Accessory carpal bones The presence of more than the normal number of carpal bones. hp0009lx5z Extra wrist bones|Supernumerary carpal bones UMLS:C0265609|SNOMEDCT_US:20136007|SNOMEDCT_US:9181003 human_phenotype owl:Class HP:0000465 biolink:NamedThing Webbed neck Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. hp0009lx5z Pterygium colli|Webbed neck|Neck webbing SNOMEDCT_US:11731003|UMLS:C0221217 human_phenotype owl:Class HP:0000464 biolink:NamedThing Abnormality of the neck An abnormality of the neck. hp0009lx5z Anomaly of the neck|Deformity of the neck|Malformation of the neck|Abnormality of the neck UMLS:C0575167|UMLS:C0266623|SNOMEDCT_US:298390003|SNOMEDCT_US:40052002|UMLS:C4280628 human_phenotype owl:Class HP:0012620 biolink:NamedThing Cloacal abnormality A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate. hp0009lx5z peter 2014-01-17T12:27:06Z UMLS:C4022816 human_phenotype owl:Class HP:0010866 biolink:NamedThing Abdominal wall defect An incomplete closure of the abdominal wall. hp0009lx5z Congenital anterior abdominal wall defect|Abdominal wall defect peter 2010-08-03T09:55:15Z UMLS:C0238577 human_phenotype owl:Class HP:0012132 biolink:NamedThing Erythroid hyperplasia Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. hp0009lx5z Bone marrow biopsy shows erythroid hyperplasia|Bone marrow smear shows erythroid hyperplasia peter 2012-09-16T07:19:21Z UMLS:C3552917|UMLS:C1838111|UMLS:C0014800 human_phenotype owl:Class HP:0012131 biolink:NamedThing Abnormal number of erythroid precursors A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. hp0009lx5z peter 2012-09-16T07:17:18Z UMLS:C4023033 human_phenotype owl:Class HP:0009056 biolink:NamedThing Loss of subcutaneous adipose tissue from upper limbs hp0009lx5z Loss of fat tissue below the skin from upper limbs UMLS:C4024602 human_phenotype owl:Class HP:0003635 biolink:NamedThing Loss of subcutaneous adipose tissue in limbs Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. hp0009lx5z Loss of fat tissue below the skin in limbs|Loss of subcutaneous adipose tissue from extremities HP:0003757 UMLS:C1837764 human_phenotype owl:Class HP:0009649 biolink:NamedThing Aplasia of the distal phalanx of the thumb Absence of the distal/terminal phalanx of the thumb. hp0009lx5z Absence of the outermost bone of the thumb|Aplasia of the outermost bone of the thumb|Absent ossification/absent terminal thumb phalanx doelkens 2009-01-29T05:22:06Z HP:0004082 UMLS:C4021416 human_phenotype owl:Class HP:0009659 biolink:NamedThing Partial absence of thumb The absence of a phalangeal segment of a thumb. hp0009lx5z Partial absence of thumb|Aplasia of the phalanges of the thumb doelkens 2009-01-29T05:35:50Z HP:0004065 UMLS:C4024255|UMLS:C4020780 human_phenotype owl:Class HP:0009517 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 2nd finger hp0009lx5z Fragmentation of end part of the middle long bone of the index finger doelkens 2009-01-16T01:12:17Z UMLS:C4024316 human_phenotype owl:Class HP:0009492 biolink:NamedThing Fragmentation of the epiphyses of the 2nd finger Fragmented appearance of the epiphyses of the 2nd finger. hp0009lx5z Fragmentation of end part of the index finger doelkens 2009-01-16T01:07:16Z UMLS:C4024333 human_phenotype owl:Class HP:0007018 biolink:NamedThing Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. hp0009lx5z Attention deficit|Childhood attention deficit/hyperactivity disorder|Attention deficit disorder|Attention deficit-hyperactivity disorder|Attention deficits HP:0001576|HP:0001577|HP:0006973 MSH:D001289|SNOMEDCT_US:7461003|SNOMEDCT_US:406506008|UMLS:C1263846 human_phenotype owl:Class HP:0000752 biolink:NamedThing Hyperactivity Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. hp0009lx5z Hyperactive behavior|Hyperactive behaviour|More active than typical HP:0008764 UMLS:C0424295|SNOMEDCT_US:44548000|MSH:D006948 owl:Class HP:0001279 biolink:NamedThing Syncope Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. hp0009lx5z Fainting spell peter 2008-02-25T10:37:00Z SNOMEDCT_US:309585006|UMLS:C0039070|MSH:D013575|SNOMEDCT_US:271594007|SNOMEDCT_US:272030005 owl:Class HP:0011025 biolink:NamedThing Abnormal cardiovascular system physiology Abnormal functionality of the cardiovascular system. hp0009lx5z Abnormality of cardiovascular system physiology peter 2011-03-03T10:23:19Z UMLS:C4023587 owl:Class HP:0100907 biolink:NamedThing Sclerosis of the middle phalanx of the 5th finger hp0009lx5z Increased bone density in the middle bone of the pinky finger|Increased bone density in the middle bone of the little finger|Increased bone density in the middle bone of the pinkie finger UMLS:C4021935 human_phenotype owl:Class HP:0100921 biolink:NamedThing Sclerosis of 5th finger phalanx An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Sclerosis of the phalanges of the 5th finger|Increased bone density in little finger bone|Increased bone density in pinkie finger bone|Increased bone density in pinky finger bone UMLS:C4020934 human_phenotype owl:Class HP:0011584 biolink:NamedThing Thoracocervical ectopia cordis A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum. hp0009lx5z peter 2012-04-08T01:12:42Z UMLS:C4023285 human_phenotype owl:Class HP:0001683 biolink:NamedThing Ectopia cordis Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall. hp0009lx5z See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%). UMLS:C0013580|SNOMEDCT_US:78250005|Fyler:170|MSH:D054083|Fyler:0170 owl:Class HP:0100386 biolink:NamedThing Aplasia of the proximal phalanx of the 5th toe hp0009lx5z Absent innermost bone of the pinky toe|Absent innermost bone of the little toe|Absent innermost bone of the pinkie toe UMLS:C4022108 human_phenotype owl:Class HP:0100388 biolink:NamedThing Aplasia of the proximal phalanges of the toes hp0009lx5z Absent innermost toe bones doelkens 2010-11-11T04:55:30Z UMLS:C4022106 human_phenotype owl:Class HP:0006407 biolink:NamedThing Irregular distal femoral epiphysis Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. hp0009lx5z Irregular outermost thighbone end part UMLS:C4025050 human_phenotype owl:Class HP:0006361 biolink:NamedThing Irregular femoral epiphysis hp0009lx5z Irregular thighbone end part UMLS:C1850658 human_phenotype owl:Class HP:0010793 biolink:NamedThing Bifid nail A digit with two nails, with at least some soft tissue between them. hp0009lx5z duplicated nail|Notched nail sdoelken 2010-05-04T10:34:02Z UMLS:C0544857|SNOMEDCT_US:110992006 human_phenotype owl:Class HP:0002164 biolink:NamedThing Nail dysplasia The presence of developmental dysplasia of the nail. hp0009lx5z Dysplastic nails|Onychodysplasia|Atypical nail growth HP:0008403|HP:0008387|HP:0008409|HP:0001793|HP:0008412|HP:0001797|HP:0001794 UMLS:C1834405 owl:Class HP:0031207 biolink:NamedThing Hepatic hemangioma A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size. hp0009lx5z Hemangioma of the liver|Liver hemangioma 2017-07-02 10:39:07+00:00 Hepatic hemangiomas are considered the most common benign mesenchymal hepatic tumors. They can be divided into two major groups: capillary hemangiomas and cavernous hemangiomas. peter owl:Class HP:0002896 biolink:NamedThing Neoplasm of the liver A tumor (abnormal growth of tissue) of the liver. hp0009lx5z Liver cancer|Liver tumor|Liver tumour UMLS:C0345904|SNOMEDCT_US:93870000|MSH:D008113|UMLS:C0023903|NCIT:C3262|SNOMEDCT_US:126851005 human_phenotype owl:Class HP:0030126 biolink:NamedThing Abnormality of the endometrium An anomaly of the inner mucous membrane of the uterus. hp0009lx5z UMLS:C4022620 owl:Class HP:0031105 biolink:NamedThing Abnormal uterus morphology Any anomaly of the structure of the uterus hp0009lx5z 2017-05-30 02:52:38+00:00 peter owl:Class HP:0010204 biolink:NamedThing Broad proximal phalanx of toe An increase in width of one ore more proximal toe phalanges. hp0009lx5z Broad innermost toe bone doelkens 2009-05-29T01:54:18Z UMLS:C4023971 human_phenotype owl:Class HP:0010184 biolink:NamedThing Abnormality of toe proximal phalanx A morphological anomaly of one or more proximal phalanges of one or more toes. hp0009lx5z Abnormality of the proximal phalanges of the toes|Abnormal innermost toe bone doelkens 2009-05-29T01:51:38Z UMLS:C4021327 human_phenotype owl:Class HP:0010150 biolink:NamedThing Bracket epiphysis of the 1st metatarsal The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form. hp0009lx5z Bracket shaped end part of 1st long bone of foot doelkens 2009-05-29T01:24:17Z UMLS:C4024009 human_phenotype owl:Class HP:0010125 biolink:NamedThing Abnormality of the epiphysis of the 1st metatarsal In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone. hp0009lx5z Abnormality of the end part of the 1st long bone of foot doelkens 2009-05-29T01:17:54Z UMLS:C4024034 human_phenotype owl:Class HP:0009705 biolink:NamedThing Synostosis involving the 2nd metacarpal hp0009lx5z Fusion involving the 2nd long bone of hand doelkens 2009-01-30T04:32:03Z UMLS:C4024228 human_phenotype owl:Class HP:0009701 biolink:NamedThing Metacarpal synostosis Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). hp0009lx5z Synostosis involving metacarpal bones|Synostosis involving the metacarpal bones|Fused long bones of hand doelkens 2009-01-30T04:13:07Z HP:0006041|HP:0005915 UMLS:C4021398 human_phenotype owl:Class HP:0410302 biolink:NamedThing Decreased specific antibody response to protein-conjugated polysaccharide vaccine A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:04:00+00:00 owl:Class HP:0032140 biolink:NamedThing Decreased specific antibody response to vaccination A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. hp0009lx5z 2018-11-22 15:08:46+00:00 peter owl:Class HP:0009519 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 2nd finger hp0009lx5z Increased bone density of end part of the middle bone of the index finger doelkens 2009-01-16T01:12:17Z UMLS:C4024314 human_phenotype owl:Class HP:0009500 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 2nd finger hp0009lx5z Epiphyseal abnormality of middle phalanx of the 2nd finger|Abnormality of end part of the middle bone of the index finger doelkens 2009-01-16T01:08:35Z HP:0004135 UMLS:C4021463 human_phenotype owl:Class HP:0000764 biolink:NamedThing Peripheral axonal degeneration Progressive deterioration of peripheral axons. hp0009lx5z This finding is typically demonstrated by nerve biopsy. HP:0006876|HP:0007304|HP:0006787 UMLS:C4025830 human_phenotype owl:Class HP:0000759 biolink:NamedThing Abnormal peripheral nervous system morphology A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). hp0009lx5z Abnormal peripheral nervous system structure|Peripheral nervous system disease The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. HP:0003483 SNOMEDCT_US:42658009|MSH:D010523|SNOMEDCT_US:302226006|UMLS:C0031117|UMLS:C4025831 owl:Class HP:0033306 biolink:NamedThing Decreased circulating fetuin A concentration A reduction below normal of fetuin A in the blood circulation. hp0009lx5z 2020-11-28 22:12:28+00:00 peter owl:Class HP:0033305 biolink:NamedThing Abnormal circulating fetuin A concentration Any deviation from the normal concentration of fetuin A in the blood circulation. hp0009lx5z 2020-11-28 22:09:58+00:00 Fetuin-A (FetA) is a 64-kDa glycoprotein that is found in relatively high concentrations in human serum. In human adults, FetA is mainly expressed and secreted from the liver and adipose tissue. Epidemiologic research consistently observes elevated circulating FetA in obesity and related complications, such as type 2 diabetes mellitus, the metabolic syndrome, and nonalcoholic fatty liver disease. peter owl:Class HP:0011845 biolink:NamedThing Short second metatarsal Short (hypoplastic) second metatarsal bone. hp0009lx5z Short 2nd long bone of foot peter 2012-05-08T07:36:00Z UMLS:C4023162 human_phenotype owl:Class HP:0012329 biolink:NamedThing Tufted angioma A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation. hp0009lx5z Progressive capillary hemangioma|Tufted hemangioma|Angioblastoma of Nakagawa|Hypertrophic hemangioma|Angioblastoma peter 2013-08-12T08:57:58Z MSH:C536924|UMLS:C0346073|SNOMEDCT_US:705155008|SNOMEDCT_US:254786000 human_phenotype owl:Class HP:0001028 biolink:NamedThing Hemangioma A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). hp0009lx5z Strawberry mark|Hemangiomata HP:0007444 SNOMEDCT_US:253053003|SNOMEDCT_US:400210000|MSH:D006391|NCIT:C3085|UMLS:C0018916|SNOMEDCT_US:2099007 human_phenotype owl:Class HP:0007149 biolink:NamedThing Distal upper limb amyotrophy Muscular atrophy of distal arm muscles. hp0009lx5z Distal upper limb muscle atrophy UMLS:C4021581 human_phenotype owl:Class HP:0003693 biolink:NamedThing Distal amyotrophy Muscular atrophy affecting muscles in the distal portions of the extremities. hp0009lx5z Distal muscle atrophy, upper and lower limbs|Muscle atrophy, distal|Distal muscle wasting|Distal muscular atrophy|Distal amyotrophy, especially of the hands and feet|Distal limb muscle atrophy|Amyotrophy of distal limb muscles|Distal muscle degeneration|Distal muscle atrophy Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution). HP:0003486|HP:0002934|HP:0009015|HP:0003699|HP:0009065|HP:0006786|HP:0006864|HP:0008937|HP:0009040|HP:0002484|HP:0008958 UMLS:C1848736 human_phenotype owl:Class HP:0031882 biolink:NamedThing Agyria A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm. hp0009lx5z Agyria diffuse 2018-05-06 16:11:19+00:00 peter owl:Class HP:0001339 biolink:NamedThing Lissencephaly A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. hp0009lx5z Fewer or absent grooves in brain Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci. HP:0002537 UMLS:C1879312|UMLS:C0266463|SNOMEDCT_US:204036008|MSH:D054082 human_phenotype owl:Class HP:0030776 biolink:NamedThing Modic type I vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation. hp0009lx5z Modic type 1 vertebral endplate changes UMLS:C4280777 owl:Class HP:0030775 biolink:NamedThing Modic type vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic. hp0009lx5z UMLS:C4280778 owl:Class HP:0025615 biolink:NamedThing Abscess hp0009lx5z 2019-04-08 22:41:54+00:00 HPO:probinson owl:Class HP:0032251 biolink:NamedThing Abnormal immune system morphology hp0009lx5z 2019-01-27 16:44:33+00:00 peter owl:Class HP:0008428 biolink:NamedThing Vertebral clefting Schisis (cleft or cleavage) of vertebral bodies. hp0009lx5z Vertebral clefts Cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. HP:0000942 UMLS:C1855828 human_phenotype owl:Class HP:0003312 biolink:NamedThing Abnormal form of the vertebral bodies Abnormal morphology of vertebral body. hp0009lx5z Abnormally shaped vertebrae UMLS:C1839326 human_phenotype owl:Class HP:0011517 biolink:NamedThing Cone monochromacy The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors. hp0009lx5z There are three differing forms of cone monochromacy, named according to the residual functioning cone class, (1) blue cone (S-cone) monochromacy, green cone (M-cone) monochromacy, and red cone (L-cone) monochromacy. peter 2012-04-06T06:40:33Z UMLS:C4023318 human_phenotype owl:Class HP:0007803 biolink:NamedThing Monochromacy Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. hp0009lx5z Total colorblindness|Complete achromatopsia Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey. HP:0007954 SNOMEDCT_US:56852002|UMLS:C1857618|MSH:D003117|UMLS:C0152200|MSH:C536128 owl:Class HP:0001234 biolink:NamedThing Hitchhiker thumb With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. hp0009lx5z Hitchhiker thumb|Abducted thumb The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending. UMLS:C1857269 human_phenotype owl:Class HP:0009466 biolink:NamedThing Radial deviation of finger Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. hp0009lx5z Radially deviated phalanges|Radially deviated fingers doelkens 2009-01-15T09:40:27Z HP:0001213|HP:0001503|HP:0001157 UMLS:C1836189 human_phenotype owl:Class HP:0011192 biolink:NamedThing Polymorphic focal epileptiform discharges Focal epileptiform discharges of different shapes and frequencies. hp0009lx5z hecht 2011-11-19T10:49:45Z UMLS:C4023482 human_phenotype owl:Class HP:0011185 biolink:NamedThing EEG with focal epileptiform discharges EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). hp0009lx5z Focal EEG Abnormality Note that a focal EEG abnormality is not synonymous with "focal epileptiform discharges" because a focal EEG abnormality is not necessarily epileptiform (e.g., it could be a focal slowing). hecht 2011-11-19T10:39:02Z HP:0010840 UMLS:C4021199 owl:Class HP:0011229 biolink:NamedThing Broad eyebrow Regional increase in the width (height) of the eyebrow. hp0009lx5z Increased vertical width of eyebrow|Flared eyebrow|Increased vertical thickness of eyebrow|Broad eyebrows|Broad eyebrow|Flared eyebrows|Increased vertical height of eyebrow Broadening or flaring can be medial or lateral. Flaring is used to describe a widening with a change in direction of the eyebrow hairs. peter 2011-12-14T08:21:26Z UMLS:C1856121 human_phenotype owl:Class HP:0000534 biolink:NamedThing Abnormal eyebrow morphology An abnormality of the eyebrow. hp0009lx5z Abnormality of the eyebrow UMLS:C4011556 human_phenotype owl:Class HP:0012904 biolink:NamedThing Cold-sensitive myotonia An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold. hp0009lx5z peter 2014-06-23T11:20:32Z UMLS:C4022682 human_phenotype owl:Class HP:0002486 biolink:NamedThing Myotonia An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. hp0009lx5z Delayed relaxation of muscle fibers after contraction|Delayed relaxation of muscle fibres after contraction Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. HP:0003792|HP:0003632|HP:0003754 SNOMEDCT_US:3434004|MSH:D009222|UMLS:C0027125 human_phenotype owl:Class HP:0006501 biolink:NamedThing Aplasia/Hypoplasia of the radius A small/hypoplastic or absent/aplastic radius. hp0009lx5z Radial aplasia/hypoplasia|Absent/small radius|Absence or underdevelopment of the radius bone of the arm|Absent/underdeveloped radius peter 2008-03-28T06:32:00Z HP:0005718 UMLS:C2749463 human_phenotype owl:Class HP:0006503 biolink:NamedThing Aplasia/hypoplasia involving forearm bones Absence (due to failure to form) or underdevelopment of one or more forearm bones. hp0009lx5z Absent/underdeveloped forearm bones|Absent/small forearm bones peter 2008-03-28T06:45:00Z UMLS:C4025032 human_phenotype owl:Class HP:0003910 biolink:NamedThing Enlarged humeral metaphyses hp0009lx5z Enlarged wide portion of long bone of upper arm|Expanded humeral metaphyses UMLS:C4021707 human_phenotype owl:Class HP:0003907 biolink:NamedThing Abnormality of the humeral metaphyses hp0009lx5z Abnormality of the wide portion of the long bone in upper arm UMLS:C4025517 human_phenotype owl:Class HP:0006185 biolink:NamedThing Enlarged proximal interphalangeal joints hp0009lx5z Enlarged innermost hinge joint UMLS:C1861350 human_phenotype owl:Class HP:0006247 biolink:NamedThing Enlarged interphalangeal joints hp0009lx5z Enlarged hinge joints UMLS:C1859701 human_phenotype owl:Class HP:0001551 biolink:NamedThing Abnormal umbilicus morphology An abnormality of the structure or appearance of the umbilicus. hp0009lx5z Abnormal belly button|Abnormal umbilicus|Abnormal navel The umbilicus is also known as the belly button or the navel. UMLS:C1849338 human_phenotype owl:Class HP:0004298 biolink:NamedThing Abnormality of the abdominal wall The presence of any abnormality affecting the abdominal wall. hp0009lx5z Abnormality of the abdominal wall|Abnormality of external features of the abdomen peter 2008-02-20T11:40:00Z HP:0001462 UMLS:C4021664 human_phenotype owl:Class HP:0040069 biolink:NamedThing Abnormal lower limb bone morphology hp0009lx5z Abnormality of lower limb bone|Abnormal morphology of bones of the lower limbs|Abnormal shape of bones of the lower limbs HPO:skoehler HP:0040066 UMLS:C4022457|UMLS:C4022455 owl:Class HP:0002813 biolink:NamedThing Abnormality of limb bone morphology Any abnormality of bones of the arms or legs. hp0009lx5z Arm and/or leg bone differences|Limb abnormality|Abnormal shape of limb bone UMLS:C4082761 human_phenotype owl:Class HP:0100659 biolink:NamedThing Abnormal cerebral vascular morphology An anomaly of the cerebral blood vessels. hp0009lx5z Abnormality of the cerebral vasculature|Abnormality of the cerebral blood vessels doelkens 2010-12-30T11:39:15Z UMLS:C4022001 owl:Class HP:0012443 biolink:NamedThing Abnormality of brain morphology A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. hp0009lx5z Abnormal shape of brain|Abnormality of the brain peter 2013-11-23T02:38:00Z UMLS:C4021085 human_phenotype owl:Class HP:0020084 biolink:NamedThing Carbuncle A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle. hp0009lx5z 2019-04-08 17:02:42+00:00 robinp owl:Class HP:0025084 biolink:NamedThing Folliculitis Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. hp0009lx5z Follicular pustule 2016-10-15 13:35:26+00:00 In contrast to folliculitis, perifolliculitis refers to inflammatory cells, usually lymphocytes, within the perifollicular tissues with focal extension into the adjacent reticular dermis. Folliculitis and perifolliculitis can occur independently or incombination owing to follicular disruption and irritation. HPO:probinson owl:Class HP:0100389 biolink:NamedThing Short distal phalanx of the 3rd toe Developmental hypoplasia of the distal phalanx of third toe. hp0009lx5z Short distal phalanx of the third toe|Short outermost bone of the 3rd toe|Hypoplastic/small distal phalanx of the 3rd toe UMLS:C4021008 human_phenotype owl:Class HP:0100369 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 3rd toe hp0009lx5z Absent/underdeveloped outermost 3rd toe bone|Absent/small outermost 3rd toe bone UMLS:C4022122 human_phenotype owl:Class HP:0010321 biolink:NamedThing Abnormality of the 4th toe An anomaly of the fourth toe. hp0009lx5z Abnormality of the 4th toe doelkens 2009-07-16T11:37:12Z UMLS:C4023906 human_phenotype owl:Class HP:0001780 biolink:NamedThing Abnormality of toe An anomaly of a toe. hp0009lx5z Abnormality of toe|Abnormalities of the toes UMLS:C2674738 human_phenotype owl:Class HP:0030509 biolink:NamedThing Retinal racemose hemangioma hp0009lx5z Retinal racemose haemangioma UMLS:C4072993 owl:Class HP:0009594 biolink:NamedThing Retinal hamartoma A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. hp0009lx5z peter 2009-01-28T10:58:47Z UMLS:C1863411 human_phenotype owl:Class HP:0007643 biolink:NamedThing Peripheral tractional retinal detachment Tractional retinal detachment at the periphery of the retina. hp0009lx5z Tractional retinal detachment at the periphery of the retina|Peripheral traction retinal detachment UMLS:C4024825 human_phenotype owl:Class HP:0007917 biolink:NamedThing Tractional retinal detachment A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes. hp0009lx5z UMLS:C1866178 human_phenotype owl:Class HP:0012339 biolink:NamedThing Increased resting energy expenditure An increase in the number of calories used per unit time. hp0009lx5z peter 2013-09-13T09:25:29Z UMLS:C4022948 human_phenotype owl:Class HP:0012338 biolink:NamedThing Abnormal energy expenditure Any anomaly in the utilization of energy (calories). hp0009lx5z Abnormal energy expenditure peter 2013-09-13T09:24:54Z UMLS:C4022949 human_phenotype owl:Class HP:0003405 biolink:NamedThing Diffuse axonal swelling hp0009lx5z UMLS:C1865417 human_phenotype owl:Class HP:0040150 biolink:NamedThing Epiblepharon of upper lid hp0009lx5z HPO:skoehler MSH:C565051|UMLS:C1851582 owl:Class HP:0011225 biolink:NamedThing Epiblepharon Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva. hp0009lx5z Epiblepharon should be distinguished from entropion. peter 2011-12-13T08:28:48Z UMLS:C0344503|SNOMEDCT_US:253212001 human_phenotype owl:Class HP:0031093 biolink:NamedThing Abnormal breast morphology Any anomaly of the structure of the breast. hp0009lx5z 2017-06-30 15:41:38+00:00 robinp owl:Class HP:0000769 biolink:NamedThing Abnormality of the breast An abnormality of the breast. hp0009lx5z Abnormality of the breast UMLS:C4025829 human_phenotype owl:Class HP:0011543 biolink:NamedThing Superior-inferior ventricles without criss-cross atrioventricular valves hp0009lx5z peter 2012-04-07T10:56:21Z UMLS:C4023308|Fyler:184|Fyler:0184 human_phenotype owl:Class HP:0011534 biolink:NamedThing Abnormal spatial orientation of the cardiac segments Abnormality of the spatial relationship of the cardiac segments to other components of the heart. hp0009lx5z peter 2012-04-07T10:27:48Z UMLS:C4023313 owl:Class HP:5000021 biolink:NamedThing Anti-Ma antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma. hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0031064 biolink:NamedThing Impaired continence Partial or total incontinence of bowel or bladder. hp0009lx5z 2017-05-28 22:29:13+00:00 peter owl:Class HP:0031058 biolink:NamedThing Impairment of activities of daily living Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. hp0009lx5z 2017-05-28 22:14:33+00:00 peter owl:Class HP:0004904 biolink:NamedThing Maturity-onset diabetes of the young The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells. hp0009lx5z MODY|Maturity onset diabetes of the young MSH:C562772|UMLS:C0342276|SNOMEDCT_US:609561005 human_phenotype owl:Class HP:0000819 biolink:NamedThing Diabetes mellitus A group of abnormalities characterized by hyperglycemia and glucose intolerance. hp0009lx5z HP:0008234|HP:0008217|HP:0008260|HP:0004908 UMLS:C0011849|SNOMEDCT_US:73211009|MSH:D003920 human_phenotype owl:Class HP:0011079 biolink:NamedThing Impacted tooth A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth). hp0009lx5z Retained tooth|Buried tooth|Impacted tooth peter 2011-03-11T10:18:55Z SNOMEDCT_US:129263008|MSH:D014095|UMLS:C4280338|SNOMEDCT_US:235104008|UMLS:C0040456 owl:Class HP:0000706 biolink:NamedThing Eruption failure A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. hp0009lx5z Unerupted tooth|Pseudo-anodontia|Failure of eruption of tooth|Pseudoanodontia|Unerupted dentition Usually a tooth erupts at a stage of half or two-thirds of root formation. There are established norms for the timing of eruption and tooth stages in both deciduous and permanent teeth. It may be difficult to discern Delayed eruption from failure of eruption: failure indicates it will never erupt, delayed indicates it may still erupt. Eruption failure may be caused by an isolated obstacle (supernumerary teeth), ankylosis of impacted teeth, or disturbances of biological eruption pathway. Partial or complete non-eruption of not initially ankylosed teeth due to a disturbed eruption mechanism result in a severe form of posterior open bite that usually worsens from anterior to posterior. Eruption failure is usually asymmetrical, affects more posterior teeth and both dentition may be involved. The diagnosis eruption failure requires clinical and radiographic examinations. SNOMEDCT_US:109542004|UMLS:C1290587 owl:Class HP:0100231 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 5th toe hp0009lx5z doelkens 2010-06-24T05:04:53Z UMLS:C4022190 human_phenotype owl:Class HP:0100084 biolink:NamedThing Pseudoepiphyses of the 5th toe hp0009lx5z doelkens 2010-06-24T10:00:02Z UMLS:C4022337 human_phenotype owl:Class HP:0009719 biolink:NamedThing Hypomelanotic macule Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. hp0009lx5z Hypomelanotic macules While hypopigmentation is a general term that refers to any form of decreased or absent skin pigmentation, hypomelanosis more specifically refers to a reduction of epidermal melanin. peter 2009-01-31T12:16:52Z UMLS:C4024220 human_phenotype owl:Class HP:0020073 biolink:NamedThing Hypopigmented macule A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. hp0009lx5z 2019-01-25 13:41:52+00:00 A reduction in skin pigmentation can be the result of factors such as decreased melanin content or anomalous melanin distribution. In diagnosing pigmentary disorders, Wood's light examination plays an important role, distinguishing hypo- and depigmentation. While a decreased pigment production is reported as hypopigmentation, depigmentation has been defined as loss of pigment. In a similar way, partial lack of melanin is known as hypomelanosis while amelanosis is the total absence of melanin. robinp owl:Class HP:0011491 biolink:NamedThing Reduced number of corneal endothelial cells A reduction in the number of corneal endothelial cells. hp0009lx5z peter 2012-04-02T10:24:23Z UMLS:C4023329 human_phenotype owl:Class HP:0011488 biolink:NamedThing Abnormal corneal endothelium morphology Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. hp0009lx5z Abnormality of corneal endothelium peter 2012-04-02T10:18:50Z UMLS:C4023332 human_phenotype owl:Class HP:0009630 biolink:NamedThing Broad proximal phalanx of the thumb Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Broad innermost thumb bone doelkens 2009-01-29T05:09:41Z UMLS:C4024267 human_phenotype owl:Class HP:0011304 biolink:NamedThing Broad thumb Increased thumb width without increased dorso-ventral dimension. hp0009lx5z Wide/broad thumb phalanges|Broad phalanges of the thumb|Broad thumb|Broad thumbs|Wide/broad thumb Note that this term should not be used for thumbs that meet the definition for Macrodactyly. hecht 2012-02-12T11:15:31Z HP:0004073|HP:0009651|HP:0001240|HP:0001173 UMLS:C0426891|SNOMEDCT_US:249773003 human_phenotype owl:Class HP:0033519 biolink:NamedThing Methamphetamine addiction Addiction to methamphetamine. hp0009lx5z Methamphetamine dependence 2021-01-13 12:36:14+00:00 peter owl:Class HP:0033512 biolink:NamedThing Stimulant addiction Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing. hp0009lx5z Stimulant dependence 2021-01-13 12:19:03+00:00 peter owl:Class HP:0025170 biolink:NamedThing Neuronal/glioneuronal neoplasm of the central nervous system A central nervous system neoplasm with neuronal and, less consistently, glial differentiation. hp0009lx5z Neuronal/glioneuronal neoplasm of the CNS|Neuronal and mixed neuronal-glial tumor|Neuronal and mixed neuronal-glial tumour|Glioneuronal tumour|Glioneuronal tumor 2016-12-04 14:30:29+00:00 HPO:probinson owl:Class HP:0100006 biolink:NamedThing Neoplasm of the central nervous system A neoplasm of the central nervous system. hp0009lx5z Tumors of the central nervous system|Neoplasia of the central nervous system|Tumours of the central nervous system|Neoplasm of the CNS doelkens 2010-05-14T09:11:53Z UMLS:C0085136|MSH:D016543|NCIT:C3262|SNOMEDCT_US:126951006 human_phenotype owl:Class HP:0006433 biolink:NamedThing Radial dysplasia Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. hp0009lx5z Dysplastic radii|Radial longitudinal deficiency UMLS:C4025046 owl:Class HP:0003330 biolink:NamedThing Abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton. hp0009lx5z UMLS:C4025630 human_phenotype owl:Class HP:0030812 biolink:NamedThing Enlarged tonsils Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. hp0009lx5z tonsils large/hypertrophy|Tonsillar hypertrophy|Enlargment of tonsils UMLS:C0272386|SNOMEDCT_US:46689006 owl:Class HP:0100765 biolink:NamedThing Abnormality of the tonsils An abnormality of the tonsils. hp0009lx5z doelkens 2011-06-07T10:43:35Z UMLS:C4021975 human_phenotype owl:Class HP:0032925 biolink:NamedThing Focal impaired awareness sexual automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset. hp0009lx5z peter owl:Class HP:0032909 biolink:NamedThing Focal impaired awareness automatism seizure A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0001976 biolink:NamedThing Reduced antithrombin III activity An abnormality of coagulation related to a decreased concentration of antithrombin-III. hp0009lx5z Antithrombin III deficiency|Anti-thrombin III deficiency|Decreased antithrombin III Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway. MSH:D020152|UMLS:C0272375|SNOMEDCT_US:36351005 human_phenotype owl:Class HP:0010988 biolink:NamedThing Abnormality of the extrinsic pathway An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. hp0009lx5z The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X. peter 2011-02-08T01:59:22Z UMLS:C4023611 human_phenotype owl:Class HP:0000823 biolink:NamedThing Delayed puberty Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. hp0009lx5z Delayed pubertal development|Delayed pubertal growth|Delayed puberty|Pubertal delay The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. HP:0008859|HP:0010467|HP:0010466 UMLS:C0034012|MSH:D011628|SNOMEDCT_US:123526007|SNOMEDCT_US:400003000 owl:Class HP:0001510 biolink:NamedThing Growth delay A deficiency or slowing down of growth pre- and postnatally. hp0009lx5z Growth delay|Delayed growth|Growth deficiency|Poor growth|Growth retardation|Very poor growth|Retarded growth|Growth failure Poor or abnormally slow gains in weight or height in a child. HP:0008847|HP:0008886|HP:0008893|HP:0001532|HP:0008926|HP:0001512|HP:0001517|HP:0008870|HP:0001514|HP:0001434 SNOMEDCT_US:444896005|UMLS:C1837385|UMLS:C0456070|UMLS:C0151686|SNOMEDCT_US:276617005|SNOMEDCT_US:59576002|UMLS:C3552463|UMLS:C0878787 owl:Class HP:0006329 biolink:NamedThing Alveolar process hypoplasia Underdevelopment of the alveolar process (also known as alveolar bone). hp0009lx5z Hypoplastic alveolar bone|Underdevelopment of alveolar process of jaw|Small alveolar process of jaw|Decreased size of alveolar ridge|Deficiency of alveolar process of jaw|Deficiency of alveolar ridge|Hypotrophic alveolar ridge|Underdevelopment of alveolar ridge|Hypoplasia of alveolar ridge|Hypotrophic alveolar process of jaw|Small alveolar ridge|Decreased size of alveolar process of jaw The alveolar process is a thickened ridge of bone that contains the tooth sockets on the mandible and maxilla. HP:0006312 UMLS:C3872671|UMLS:C4280452|UMLS:C4280451|UMLS:C1848905|SNOMEDCT_US:708494003|UMLS:C4280453 human_phenotype owl:Class HP:0006477 biolink:NamedThing Abnormality of the alveolar ridges Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. hp0009lx5z Abnormality of alveolar processes of jaw|Abnormality of gum ridge|Abnormality of dentoalveolar ridges|Abnormality of alveolar margin|Defect in alveolar ridge peter 2008-03-28T04:44:00Z UMLS:C0341007|SNOMEDCT_US:235013007|UMLS:C4280445 human_phenotype owl:Class HP:0009817 biolink:NamedThing Aplasia involving bones of the lower limbs hp0009lx5z Absent bones of the lower limbs doelkens 2009-02-23T05:10:03Z UMLS:C4024198 human_phenotype owl:Class HP:0006493 biolink:NamedThing Aplasia/hypoplasia involving bones of the lower limbs Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. hp0009lx5z Absent/underdeveloped lower limb bones|Absent/small lower limb bones peter 2008-03-28T06:04:00Z UMLS:C4025037 human_phenotype owl:Class HP:0100059 biolink:NamedThing Fragmentation of the epiphyses of the 3rd toe hp0009lx5z Fragmentation of the end part of the 3rd toe bone doelkens 2010-06-24T09:58:55Z UMLS:C4022362 human_phenotype owl:Class HP:0010329 biolink:NamedThing Abnormality of the epiphyses of the 3rd toe hp0009lx5z Abnormality of the end part of the 3rd toe bone doelkens 2009-07-16T11:40:52Z UMLS:C4023900 human_phenotype owl:Class HP:0011639 biolink:NamedThing Anomalous origin of right coronary artery from the pulmonary artery Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve. hp0009lx5z peter 2012-04-09T08:41:05Z UMLS:C3472165|SNOMEDCT_US:450300002 human_phenotype owl:Class HP:0011637 biolink:NamedThing Anomalous origin of coronary artery from the pulmonary artery A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta. hp0009lx5z peter 2012-04-09T08:33:57Z UMLS:C4023252 human_phenotype owl:Class HP:0006915 biolink:NamedThing Inability to walk by childhood/adolescence hp0009lx5z Inability to walk by childhood/adolescence UMLS:C1859200 human_phenotype owl:Class HP:0002540 biolink:NamedThing Inability to walk Incapability to ambulate. hp0009lx5z Inability to walk|Non-ambulatory SNOMEDCT_US:282145008|UMLS:C0560046 human_phenotype owl:Class HP:0006400 biolink:NamedThing Absent knee epiphyses hp0009lx5z Absent knee end part UMLS:C1859462 human_phenotype owl:Class HP:0002815 biolink:NamedThing Abnormality of the knee An abnormality of the knee joint or surrounding structures. hp0009lx5z Abnormality of the knee UMLS:C4025676 human_phenotype owl:Class HP:0100044 biolink:NamedThing Absent epiphyses of the 2nd toe hp0009lx5z Absent end part of the 2nd toe bone doelkens 2010-06-24T09:58:18Z UMLS:C4022377 human_phenotype owl:Class HP:0010323 biolink:NamedThing Abnormality of the epiphyses of the 2nd toe hp0009lx5z Abnormality of the end part of the 2nd toe bone doelkens 2009-07-16T11:40:18Z UMLS:C4023904 human_phenotype owl:Class HP:0006766 biolink:NamedThing Papillary renal cell carcinoma The presence of renal cell carcinoma in the renal papilla. hp0009lx5z HP:0006776 UMLS:C1306837|MSH:D002292|NCIT:C2916 human_phenotype owl:Class HP:0005584 biolink:NamedThing Renal cell carcinoma A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. hp0009lx5z Hypernephroma|Renal carcinoma|Cancer starting in small tubes in kidneys Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma. HP:0006720 MSH:D002292|NCIT:C2916|SNOMEDCT_US:41607009|UMLS:C0007134|SNOMEDCT_US:702391001 human_phenotype owl:Class HP:0009202 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 5th finger Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger. hp0009lx5z Fragmentation of end part of the innermost bone of the pinkie finger|Fragmentation of end part of the innermost bone of the little finger|Fragmentation of end part of the innermost bone of the pinky finger doelkens 2009-01-05T05:13:41Z UMLS:C4024538 human_phenotype owl:Class HP:0010272 biolink:NamedThing Fragmentation of the epiphyses of the proximal phalanges of the hand hp0009lx5z Fragmentation of the end part of the innermost hand bones doelkens 2009-07-06T04:25:12Z UMLS:C4023929 human_phenotype owl:Class HP:3000030 biolink:NamedThing Abnormality of bony orbit of skull An abnormality of an orbit of skull. hp0009lx5z Abnormality of the bony eye socket|Abnormality of the orbital bones of skull|Abnormality of bones of the orbit of the skull vasilevs 2015-08-07T00:27:07Z UMLS:C4073239 human_phenotype owl:Class HP:0000929 biolink:NamedThing Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. hp0009lx5z Abnormality of the skull|Abnormality of the skull bones UMLS:C0235942 human_phenotype owl:Class HP:0005523 biolink:NamedThing Lymphoproliferative disorder hp0009lx5z Lymphoproliferative disorders SNOMEDCT_US:414629003|SNOMEDCT_US:77121009|UMLS:C0024314|SNOMEDCT_US:84631004|SNOMEDCT_US:277466009|MSH:D008232 human_phenotype owl:Class HP:0004377 biolink:NamedThing Hematological neoplasm Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). hp0009lx5z Blood tumor|Blood tumour|Haematological neoplasm peter 2008-03-18T07:44:00Z SNOMEDCT_US:129154003|UMLS:C0376545|SNOMEDCT_US:269475001|MSH:D019337 human_phenotype owl:Class HP:0010741 biolink:NamedThing Pedal edema An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. hp0009lx5z Lower leg swelling|Pedal oedema|Leg oedema|Leg edema|Oedema of the lower limbs|Dependant oedema|Fluid accumulation in lower limbs|Peripheral oedema of lower extremity|Edema of the lower limbs|Peripheral edema of lower extremity|Dependant edema doelkens 2010-04-22T02:16:54Z UMLS:C0235886|SNOMEDCT_US:102572006|UMLS:C0239340 owl:Class HP:0000969 biolink:NamedThing Edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. hp0009lx5z Dropsy|Water retention|Hydrops|Oedema|Fluid retention Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. HP:0000990 MSH:D004487|SNOMEDCT_US:79654002|SNOMEDCT_US:423666004|SNOMEDCT_US:20741006|UMLS:C0013604|SNOMEDCT_US:267038008 owl:Class HP:0008148 biolink:NamedThing Impaired epinephrine-induced platelet aggregation Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. hp0009lx5z UMLS:C4024727 human_phenotype owl:Class HP:0003540 biolink:NamedThing Impaired platelet aggregation An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. hp0009lx5z Defective platelet aggregation|Platelet aggregation defect|Deficient platelet aggregation HP:0008177 UMLS:C1855853 human_phenotype owl:Class HP:0012364 biolink:NamedThing Decreased urinary potassium A decreased concentration of potassium(1+) in the urine. hp0009lx5z Decreased urinary K|Hypokaluria|Low urine potassium levels peter 2013-10-03T10:21:51Z SNOMEDCT_US:54781007|UMLS:C0268024 human_phenotype owl:Class HP:0012598 biolink:NamedThing Abnormal urine potassium concentration An abnormal concentration of potassium(1+) in the urine. hp0009lx5z Abnormal urine K concentration peter 2014-01-16T06:11:59Z UMLS:C4022829 owl:Class HP:0002902 biolink:NamedThing Hyponatremia An abnormally decreased sodium concentration in the blood. hp0009lx5z Low blood sodium levels SNOMEDCT_US:89627008|UMLS:C0020625|MSH:D007010 human_phenotype owl:Class HP:0010931 biolink:NamedThing Abnormal blood sodium concentration An abnormal concentration of sodium. hp0009lx5z Abnormality of sodium homeostasis|Abnormal blood Na+ levels|Abnormal circulating Na concentration peter 2011-01-06T10:40:20Z UMLS:C4023644 human_phenotype owl:Class HP:0100161 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe hp0009lx5z Fragmentation of the end part of the innermost bone of the 3rd toe doelkens 2010-06-24T10:24:45Z UMLS:C4022260 human_phenotype owl:Class HP:0000418 biolink:NamedThing Narrow nasal ridge Decreased width of the nasal ridge. hp0009lx5z Decreased width of nasal ridge|Thin dorsum of nose|Thin nasal ridge|Decreased width of nasal dorsum|Narrow nasal dorsum|Thin nasal dorsum|Decreased width of dorsum of nose|Narrow dorsum of nose|Pinched nose|Narrow nasal ridge This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately. UMLS:C1837761 human_phenotype owl:Class HP:0011119 biolink:NamedThing Abnormality of the nasal dorsum An abnormality of the nasal dorsum, also known as the nasal ridge. hp0009lx5z Crooked nasal dorsum|Deformity of the nasal dorsum|Crooked dorsum of nose|Anomaly of the nasal ridge|Crooked nasal ridge|Deformity of the nasal ridge|Malformation of the nasal ridge|Abnormality of the dorsum of nose|Malformation of the nasal dorsum|Abnormality of the nasal ridge|Abnormal morphology of dorsum of nose|Deformity of the dorsum of the nose|Malformation of the dorsum of nose The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip. peter 2011-06-12T09:37:47Z UMLS:C4021202|UMLS:C4280332 human_phenotype owl:Class HP:0100864 biolink:NamedThing Short femoral neck An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). hp0009lx5z Hypoplastic femoral neck|Short neck of thighbone|Short femoral necks|Hypoplasia of the femoral neck doelkens 2011-11-30T10:48:34Z HP:0008779|HP:0003032|HP:0008793 UMLS:C1836184 human_phenotype owl:Class HP:0009108 biolink:NamedThing Aplasia/Hypoplasia involving the femoral head and neck hp0009lx5z Absent/underdeveloped head and neck of thighbone|Absent/small head and neck of thighbone peter 2008-04-04T08:44:00Z UMLS:C4024594 human_phenotype owl:Class HP:0001830 biolink:NamedThing Postaxial foot polydactyly Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. hp0009lx5z Postaxial polydactyly of foot|Polydactyly affecting the 5th toe|Postaxial polydactyly of feet|Extra toe attached near the little toe|Fibular polydactyly|Posterior polydactyly of foot The modifier postaxial means that the supernumerary digit is not a hallux. HP:0010346 UMLS:C4020865|UMLS:C2112129 human_phenotype owl:Class HP:0010322 biolink:NamedThing Abnormality of the 5th toe An anomaly of the little toe. hp0009lx5z Abnormality of the pinky toe|Abnormality of the pinkie toe|Abnormality of the little toe doelkens 2009-07-16T11:37:12Z UMLS:C4023905 human_phenotype owl:Class HP:0004785 biolink:NamedThing Malrotation of colon An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. hp0009lx5z UMLS:C0266196|SNOMEDCT_US:6477005 human_phenotype owl:Class HP:0002250 biolink:NamedThing Abnormal large intestine morphology Any abnormality of the large intestine. hp0009lx5z Abnormality of the large intestine The large intestine comprises the cecum and colon. UMLS:C4025715 human_phenotype owl:Class HP:0030839 biolink:NamedThing Knee pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. hp0009lx5z Pain under knee cap|Knee pain SNOMEDCT_US:30989003|UMLS:C0231749 owl:Class HP:0012514 biolink:NamedThing Lower limb pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. hp0009lx5z Lower limb pain|Leg pain peter 2013-12-08T09:10:29Z UMLS:C0023222|SNOMEDCT_US:10601006 human_phenotype owl:Class HP:0010255 biolink:NamedThing Stippling of the epiphyses of the distal phalanges of the hand hp0009lx5z Speckled calcifications in the end part of the outermost hand bones doelkens 2009-07-06T04:23:06Z UMLS:C4023945 human_phenotype owl:Class HP:0010237 biolink:NamedThing Epiphyseal stippling of finger phalanges The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers. hp0009lx5z Stippling of the epiphyses of the phalanges of the hand|Speckled calcifications in end part of finger bones|Stippling of the epiphyses of the fingers doelkens 2009-07-06T03:31:52Z HP:0009368 UMLS:C4021304 human_phenotype owl:Class HP:0032912 biolink:NamedThing Focal aware manual automatism seizure A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0032910 biolink:NamedThing Focal aware automatism seizure A type of focal automatism seizure during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0100961 biolink:NamedThing Enlarged hippocampus Increase in size of the hippocampus. hp0009lx5z The hippocampus is part of the limbic system and plays a role in long- and short-term memory. doelkens 2012-01-18T06:05:24Z UMLS:C4021908 human_phenotype owl:Class HP:0025100 biolink:NamedThing Abnormal hippocampus morphology Any structural anomaly of the hippocampus, hp0009lx5z Abnormality of hippocampus morphology|Abnormal morphology of the hippocampus 2016-10-28 07:12:41+00:00 The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. HPO:probinson owl:Class HP:0009198 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 5th finger Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. hp0009lx5z Abnormality of end part of the outermost bone of the little finger|Abnormality of end part of the outermost bone of the pinky finger|Abnormality of end part of the outermost bone of the pinkie finger|Abnormality of the epiphysis of the terminal phalanx of the little finger doelkens 2009-01-05T04:41:32Z HP:0004228 UMLS:C4021512 human_phenotype owl:Class HP:0010243 biolink:NamedThing Abnormality of the epiphyses of the distal phalanx of finger Any anomaly of distal epiphysis of phalanx of finger. hp0009lx5z Abnormality of the end part of the outermost bone of finger doelkens 2009-07-06T04:21:32Z UMLS:C4023956 human_phenotype owl:Class HP:0000591 biolink:NamedThing Abnormal sclera morphology An abnormality of the sclera. hp0009lx5z Abnormality of the sclera|Abnormality of the outer white part of eyeball UMLS:C4025840 human_phenotype owl:Class HP:0012372 biolink:NamedThing Abnormal eye morphology A structural anomaly of the globe of the eye, or bulbus oculi. hp0009lx5z Abnormal eye structure|Abnormally shaped eye|Abnormality of the globe previously: Abnormal globe morphology peter 2013-10-13T03:44:43Z HP:0000489|HP:0012374 UMLS:C4022925|Fyler:4863 owl:Class HP:0030601 biolink:NamedThing Abnormal posterior segment imaging hp0009lx5z UMLS:C4073072 owl:Class HP:0004329 biolink:NamedThing Abnormal posterior eye segment morphology hp0009lx5z Abnormality of the posterior segment of the globe|Abnormality of the posterior segment of the eyeball|Abnormal morphology of the posterior segment of the globe|Abnormality of the posterior segment of the eye The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. peter 2008-02-27T04:25:00Z UMLS:C4025354 human_phenotype owl:Class HP:0011508 biolink:NamedThing Macular hole A macular hole is a small break in the macula, located in the center of the retina. hp0009lx5z peter 2012-04-06T09:39:58Z UMLS:C0024441|MSH:D012167|SNOMEDCT_US:232006002 human_phenotype owl:Class HP:0001103 biolink:NamedThing Abnormal macular morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. hp0009lx5z Macular abnormality|Macula abnormality|Abnormality of the macula The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. SNOMEDCT_US:312999006|UMLS:C0730362 human_phenotype owl:Class HP:0009591 biolink:NamedThing Abnormality of the vestibulocochlear nerve Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain. hp0009lx5z Abnormality of the VIIIth cranial nerve|Abnormality of the eighth cranial nerve peter 2009-01-28T10:42:57Z UMLS:C4021431 human_phenotype owl:Class HP:0001291 biolink:NamedThing Abnormal cranial nerve morphology Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. hp0009lx5z Abnormality of cranial nerve|Abnormality of the cranial nerves|Cranial nerve abnormality|Cranial nerve disease|Cranial nerve involvement HP:0003480 UMLS:C4020872|UMLS:C1854510 human_phenotype owl:Class HP:0003366 biolink:NamedThing Abnormal femoral neck/head morphology hp0009lx5z Abnormal neck or head of thigh bone|Abnormality of the femoral neck or head region UMLS:C4025622 owl:Class HP:0010745 biolink:NamedThing Aplasia of the phalanges of the toes Absence of a digit or of one or more phalanges of a toe. hp0009lx5z Aphalangia of the toes|Absent bones of the toes doelkens 2010-04-22T04:33:06Z UMLS:C4021231 human_phenotype owl:Class HP:0002518 biolink:NamedThing Abnormal periventricular white matter morphology A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. hp0009lx5z Periventricular white matter abnormalities|Abnormality of the periventricular white matter UMLS:C2673431 owl:Class HP:0002352 biolink:NamedThing Leukoencephalopathy This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. hp0009lx5z This feature can be demonstrated by magnetic resonance imaging or computer tomography. HP:0007073|HP:0006838 UMLS:C0270612|SNOMEDCT_US:22811006|MSH:D056784 human_phenotype owl:Class HP:0006589 biolink:NamedThing Flaring of lower rib cage hp0009lx5z Flaring of lower rib cage UMLS:C1855196 human_phenotype owl:Class HP:0000904 biolink:NamedThing Flaring of rib cage The presence of wide, concave anterior rib ends. hp0009lx5z Anterior flaring of ribs|Flaring of rib cage HP:0006656 UMLS:C1854780 human_phenotype owl:Class HP:0009547 biolink:NamedThing Broad phalanges of the 2nd finger hp0009lx5z Wide index finger bones|Wide/broad index finger phalanges doelkens 2009-01-21T10:19:34Z HP:0004118 UMLS:C4021444 human_phenotype owl:Class HP:0009768 biolink:NamedThing Broad phalanges of the hand Increased width of the phalanges of the hand. hp0009lx5z Wide hand bones|Widening of phalanges of the hand doelkens 2009-02-02T11:38:04Z HP:0006260|HP:0001246 UMLS:C4021391 human_phenotype owl:Class HP:0001063 biolink:NamedThing Acrocyanosis hp0009lx5z Persistent blue colour of hands, feet, or parts of face|Persistent blue color of hands, feet, or parts of face SNOMEDCT_US:25003006|UMLS:C0221347 human_phenotype owl:Class HP:0000961 biolink:NamedThing Cyanosis Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. hp0009lx5z Blue discoloration of the skin SNOMEDCT_US:119419001|UMLS:C0010520|SNOMEDCT_US:3415004|MSH:D003490 owl:Class HP:0009397 biolink:NamedThing Fragmentation of the epiphyses of the 4th finger Fragmented appearance of the epiphyses of the 4th finger. hp0009lx5z Fragmentation of the end part of the ring finger bones doelkens 2009-01-13T01:59:12Z UMLS:C4024393 human_phenotype owl:Class HP:0009174 biolink:NamedThing Abnormality of the epiphyses of the 4th finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger. hp0009lx5z Abnormality of the end part of the ring finger doelkens 2009-01-05T04:23:43Z UMLS:C4024556 human_phenotype owl:Class HP:0100488 biolink:NamedThing Synostosis of the proximal phalanx of the hallux with the 1st metatarsal hp0009lx5z Fusion of the innermost big toe bone with the 1st long bone of foot doelkens 2010-11-18T06:24:21Z UMLS:C4022043 human_phenotype owl:Class HP:0001440 biolink:NamedThing Metatarsal synostosis hp0009lx5z Fusion of metatarsals|Fusion of the long bones of the feet|Synostosis involving metatarsal bones peter 2008-04-17T02:36:00Z HP:0004705|HP:0008098 UMLS:C1862697 human_phenotype owl:Class HP:0000620 biolink:NamedThing Dacryocystitis Inflammation of the nasolacrimal sac. hp0009lx5z Infection of the lacrimal sac|Dacrocystitis Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis. UMLS:C0010930|MSH:D003607|SNOMEDCT_US:85777005 human_phenotype owl:Class HP:0000614 biolink:NamedThing Abnormal nasolacrimal system morphology An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. hp0009lx5z Abnormality of the nasolacrimal system The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct. UMLS:C4025835 human_phenotype owl:Class HP:0012063 biolink:NamedThing Aneurysmal bone cyst Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging. hp0009lx5z hecht 2012-08-03T02:35:52Z SNOMEDCT_US:76000001|SNOMEDCT_US:203468000|UMLS:C0152244|MSH:D017824 human_phenotype owl:Class HP:0012062 biolink:NamedThing Bone cyst A fluid filled cavity that develops with a bone. hp0009lx5z Bone cyst|Bone cysts Many bone cysts are asymptomatic. However, larger cysts can make the bone more susceptible to fracture. hecht 2012-08-03T02:35:39Z HP:0100696 SNOMEDCT_US:203465002|UMLS:C0005937|SNOMEDCT_US:203467005|MSH:D001845|SNOMEDCT_US:66954000|SNOMEDCT_US:112643007 human_phenotype owl:Class HP:0002403 biolink:NamedThing Positive Romberg sign The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. hp0009lx5z SNOMEDCT_US:298310004|UMLS:C0240914 human_phenotype owl:Class HP:0010831 biolink:NamedThing Impaired proprioception A loss or impairment of the sensation of the relative position of parts of the body and joint position. hp0009lx5z Abnormality of proprioception peter 2010-07-10T07:12:53Z HP:0010870 UMLS:C1856691 human_phenotype owl:Class HP:0011360 biolink:NamedThing Acquired abnormal hair pattern An abnormality of the distribution of hair growth that is acquired during the course of life. hp0009lx5z Acquired abnormal hair pattern peter 2012-03-01T08:36:23Z UMLS:C4023399 human_phenotype owl:Class HP:0010720 biolink:NamedThing Abnormal hair pattern An abnormality of the distribution of hair growth. hp0009lx5z Abnormal distribution of hair|Abnormal hair pattern sdoelken 2010-04-20T09:53:15Z UMLS:C4023721 human_phenotype owl:Class HP:0032860 biolink:NamedThing Generalized non-convulsive status epilepticus without coma Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure. hp0009lx5z Absence status epilepticus|Generalised non-convulsive status epilepticus without coma|Petit mal status epilepticus peter owl:Class HP:0032671 biolink:NamedThing Non-convulsive status epilepticus without coma A type of status epilepticus without prominent motor symptoms in the absence of coma. hp0009lx5z peter owl:Class HP:0032634 biolink:NamedThing Intratubular myoglobin cast Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. hp0009lx5z peter owl:Class HP:0032623 biolink:NamedThing Renal intratubular casts Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. hp0009lx5z Tubular casts Casts can be subsequently eliminated via the urine and may be seen by microscopy of the urine sediment, which should be coded separately using an appropriate term from the Cylindruria subhierarchy (HP:0012615). Intratubular casts may have various compositions with different morphologic and staining characteristics. Both hyaline and granular casts may be observed in a number of renal diseases. Commonly observed casts are hyaline (eosinophilic, homogeneous proteinaceous) casts associated with increased glomerular permeability such as with chronic progressive nephropathy and granular (necrotic cellular debris) casts. peter owl:Class HP:0009219 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger. hp0009lx5z Irregular end part of the middle bone of the ring finger doelkens 2009-01-05T05:23:59Z UMLS:C4024522 human_phenotype owl:Class HP:0010262 biolink:NamedThing Irregular epiphyses of the middle phalanges of the hand hp0009lx5z Irregular end part of middle hand bones doelkens 2009-07-06T04:24:15Z UMLS:C4023939 human_phenotype owl:Class HP:0009394 biolink:NamedThing Bracket epiphyses of the 4th finger An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of ring finger bones doelkens 2009-01-13T01:59:12Z HP:0004192 UMLS:C4024396 human_phenotype owl:Class HP:0030049 biolink:NamedThing Brain abscess A collection of pus, immune cells, and other material in the brain. hp0009lx5z Brain abscess Brain abscess usually results from a bacterial or fungal infection. UMLS:C0006105|MSH:D001922|SNOMEDCT_US:441806004 owl:Class HP:0011450 biolink:NamedThing Unusual CNS infection A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. hp0009lx5z Central nervous system infection peter 2012-03-18T05:57:29Z UMLS:C0007684|SNOMEDCT_US:128117002|MSH:D002494 human_phenotype owl:Class HP:0011795 biolink:NamedThing Intralobar nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). hp0009lx5z peter 2012-04-22T07:50:10Z SNOMEDCT_US:405934001|UMLS:C1319016 human_phenotype owl:Class HP:0008643 biolink:NamedThing Nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. hp0009lx5z UMLS:C2675558 human_phenotype owl:Class HP:0025030 biolink:NamedThing Enteric neuronal degeneration Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons. hp0009lx5z Degenerative enteric neuropathy 2016-08-27 11:43:00+00:00 HPO:probinson owl:Class HP:0025029 biolink:NamedThing Abnormality of enteric neuron morphology hp0009lx5z 2016-08-27 11:22:10+00:00 HPO:probinson owl:Class HP:0020175 biolink:NamedThing Reduced cholinesterase level A decreased amount of cholinesterase in the blood circulation. hp0009lx5z Serum cholinesterase (butyrylcholinesterase (BChE)) is an enzyme that hydrolyzes acetylcholine. BChE is synthetized in the liver and has conventionally been used as a liver function test. robinp 2019-07-06 22:04:04+00:00 owl:Class HP:0012379 biolink:NamedThing Abnormal enzyme/coenzyme activity An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. hp0009lx5z peter 2013-10-15T08:58:55Z UMLS:C4022922 owl:Class HP:0009858 biolink:NamedThing Triangular shaped proximal phalanges of the hand hp0009lx5z Triangular shaped innermost finger bone doelkens 2009-03-11T12:16:33Z HP:0009877 UMLS:C4024177 human_phenotype owl:Class HP:0009774 biolink:NamedThing Triangular shaped phalanges of the hand hp0009lx5z Delta phalanx/delta-like phalanx|Triangular shaped hand bones doelkens 2009-02-02T11:38:04Z HP:0009874|HP:0006085 UMLS:C2673397 human_phenotype owl:Class HP:0033012 biolink:NamedThing Abnormal salivary metabolite concentration Any deviation from the normal concentration of a metabolite in saliva. hp0009lx5z peter owl:Class HP:0001939 biolink:NamedThing Abnormality of metabolism/homeostasis hp0009lx5z Laboratory abnormality|Metabolism abnormality HP:0002146|HP:0004355|HP:0004367 UMLS:C4021768 human_phenotype owl:Class HP:0011546 biolink:NamedThing Abnormal atrioventricular connection An abnormality of the circulatory connection between atria and ventricles. hp0009lx5z Abnormal atrioventricular connexion peter 2012-04-07T11:27:57Z UMLS:C0344612|SNOMEDCT_US:253274005 human_phenotype owl:Class HP:0011545 biolink:NamedThing Abnormal connection of the cardiac segments A deviance in the normal connections between two cardiac segements. hp0009lx5z Abnormal connexion of the cardiac segments|Discordant connection of the cardiac segments peter 2012-04-07T11:24:25Z UMLS:C4023306 owl:Class HP:0005063 biolink:NamedThing Fragmented, irregular epiphyses hp0009lx5z Fragmented, irregular end part of bone UMLS:C1867494 human_phenotype owl:Class HP:0100168 biolink:NamedThing Fragmented epiphyses Fragmented appearance of the epiphyses. hp0009lx5z Fragmented end part of bone doelkens 2010-06-24T11:07:51Z UMLS:C4022253 human_phenotype owl:Class HP:0006595 biolink:NamedThing Scapulohumeral synostosis Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. hp0009lx5z Fusion of shoulder blade to long bone in upper arm|Humero-scapulo synostosis|Synostosis of shoulder joint|Humeroscapular synostosis HP:0010792 UMLS:C1865362 human_phenotype owl:Class HP:0003063 biolink:NamedThing Abnormality of the humerus An abnormality of the humerus (i.e., upper arm bone). hp0009lx5z Abnormality of the humeri HP:0002988 UMLS:C4021742 human_phenotype owl:Class HP:0031784 biolink:NamedThing Abnormal ascending aorta morphology Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise. hp0009lx5z 2018-01-28 12:14:30+00:00 peter Fyler:1431 owl:Class HP:0001679 biolink:NamedThing Abnormal aortic morphology An abnormality of the aorta. hp0009lx5z Abnormality of the aorta|Abnormal aorta morphology HP:0030963 Fyler:1453|UMLS:C4025756 human_phenotype owl:Class HP:0001233 biolink:NamedThing 2-3 finger syndactyly Syndactyly with fusion of fingers two and three. hp0009lx5z Syndactyly, 2-3 finger|Syndactyly 2nd-3rd fingers|Webbed 2nd-3rd fingers HP:0006122|HP:0006039 UMLS:C0432055|SNOMEDCT_US:205139009 human_phenotype owl:Class HP:0006101 biolink:NamedThing Finger syndactyly Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". hp0009lx5z Partial syndactyly HP:0006057 SNOMEDCT_US:249769001|SNOMEDCT_US:34048007|UMLS:C0221352|SNOMEDCT_US:268251006 human_phenotype owl:Class HP:4000044 biolink:NamedThing Transverse fracture A type of fracture in which the break is in a straight line across the bone. hp0009lx5z 2021-05-02 20:50:13+00:00 robinp owl:Class HP:4000042 biolink:NamedThing Fracture type Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110). hp0009lx5z 2021-05-02 20:47:02+00:00 robinp owl:Class HP:0007830 biolink:NamedThing Adult-onset night blindness Inability to see well at night or in poor light with onset in adulthood. hp0009lx5z Adult-onset night blindness UMLS:C4024790 human_phenotype owl:Class HP:0000662 biolink:NamedThing Nyctalopia Inability to see well at night or in poor light. hp0009lx5z Difficulties with night vision|Night blindness|Night-blindness|Poor night vision HP:0007725|HP:0007865|HP:0007895|HP:0007653 MSH:D009755|UMLS:C0028077|SNOMEDCT_US:65194006|UMLS:C4020885 owl:Class HP:0005772 biolink:NamedThing Aplasia/Hypoplasia of the tibia Absence or underdevelopment of the tibia. hp0009lx5z Absent/small shinbone|Absent/hypoplastic tibia|Absent/underdeveloped shankbone|Absent/small shankbone|Absent/underdeveloped shinbone|Aplastic/hypoplastic tibia UMLS:C1969181 human_phenotype owl:Class HP:0002992 biolink:NamedThing Abnormality of tibia morphology Abnormality of the tibia (shinbone). hp0009lx5z Abnormality of the shankbone|Abnormality of the shinbone UMLS:C4025663 human_phenotype owl:Class HP:0030739 biolink:NamedThing Altman type III sacrococcygeal teratoma A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass. hp0009lx5z UMLS:C4280793 owl:Class HP:0030736 biolink:NamedThing Sacrococcygeal teratoma A teratoma arising in the sacro-coccygeal region. hp0009lx5z Sacrococcygeal teratomas arise from totipotent cells from the node of Hensen at the anterior aspect of the coccyx by about the 2nd to 3rd weeks of gestation, and are composed of the all three germ cells (i.e. ectoderm, mesoderm and endoderm). Sacrococcygeal teratomas are classified according to their relative extent outside and inside the body. Altman type I: entirely outside, sometimes attached to the body only by a narrow stalk; Altman type II: mostly outside; Altman type III: mostly inside; Altman type IV: entirely inside. UMLS:C0559459|SNOMEDCT_US:281561000 owl:Class HP:0032387 biolink:NamedThing Reduced circulating transferrin concentration An abnormally decreased concentration of transferrin in the blood circulation. hp0009lx5z Reduced transferrin level 2019-02-24 15:35:44+00:00 peter owl:Class HP:0032385 biolink:NamedThing Abnormal circulating transferrin concentration Any deviation from the normal concentration of transferrin in the blood circulation. hp0009lx5z Abnormal circulating transferrin level 2019-02-24 15:33:47+00:00 peter owl:Class HP:0100522 biolink:NamedThing Thymoma A tumor originating from the epithelial cells of the thymus. hp0009lx5z Malignant lymphomas that involve the thymus, such as lymphoblastic lymphoma and Hodgkin lymphoma (erroneously termed "granulomatous thymoma" in the past), should not be regarded as thymomas. Thymoma is an uncommon tumor, best known for its association with the neuromuscular disorder myasthenia gravis. Thymoma is found in 15% of patients with myasthenia gravis. doelkens 2010-12-20T11:02:22Z SNOMEDCT_US:128856005|SNOMEDCT_US:444231005|NCIT:C3411|UMLS:C0040100|MSH:D013945 human_phenotype owl:Class HP:0100521 biolink:NamedThing Neoplasm of the thymus A tumor (abnormal growth of tissue) of the thymus. hp0009lx5z doelkens 2010-12-20T11:02:03Z UMLS:C3714644|MSH:D013953|SNOMEDCT_US:127231009|NCIT:C3262 human_phenotype owl:Class HP:0000567 biolink:NamedThing Chorioretinal coloboma Absence of a region of the retina, retinal pigment epithelium, and choroid. hp0009lx5z Choroidoretinal coloboma|Birth defect that causes a hole in the innermost layer at the back of the eye|Choroidal coloboma|Coloboma of choroid|Choroid coloboma HP:0007718|HP:0000611|HP:0007956|HP:0007784 UMLS:C0240896|SNOMEDCT_US:39302008 human_phenotype owl:Class HP:0000532 biolink:NamedThing Abnormal chorioretinal morphology An abnormality of the choroid and retina. hp0009lx5z Chorioretinal abnormality The choroid is the vascular layer of the eye, located between the retina and the sclera. HP:0001145|HP:0007888 UMLS:C4025844 human_phenotype owl:Class HP:0031354 biolink:NamedThing Sleep onset insomnia Difficulty initiating sleep, that is, increased sleep onset latency. hp0009lx5z Difficulty falling asleep 2017-08-27 15:00:50+00:00 peter owl:Class HP:0100785 biolink:NamedThing Insomnia Persistent difficulty initiating or maintaining sleep. hp0009lx5z Fragmented sleep|Difficulty staying or falling asleep doelkens 2011-06-07T06:14:22Z MSH:D007319|SNOMEDCT_US:193462001|UMLS:C0917801 owl:Class HP:0002901 biolink:NamedThing Hypocalcemia An abnormally decreased calcium concentration in the blood. hp0009lx5z Low blood calcium levels|Hypocalcaemia UMLS:C0020598|MSH:D006996|SNOMEDCT_US:5291005 human_phenotype owl:Class HP:0004363 biolink:NamedThing Abnormal circulating calcium concentration Any deviation from the normal concentration of calcium in the blood circulation. hp0009lx5z Abnormal blood calcium concentration|Abnormal circulating Ca concentration|Abnormal blood calcium levels|Abnormal circulating Ca2+ concentration peter 2008-03-17T04:15:00Z HP:0040077 owl:Class HP:0100727 biolink:NamedThing Histiocytosis An excessive number of histiocytes (tissue macrophages). hp0009lx5z doelkens 2011-06-06T04:43:05Z SNOMEDCT_US:65396000|SNOMEDCT_US:60657004|MSH:D015614|UMLS:C0019618 human_phenotype owl:Class HP:0004311 biolink:NamedThing Abnormal macrophage morphology An abnormality of macrophages. hp0009lx5z Abnormality of macrophages|Abnormality of histiocytes peter 2008-02-20T03:14:00Z HP:0004310 UMLS:C4021661 human_phenotype owl:Class HP:0002253 biolink:NamedThing Colonic diverticula The presence of multiple diverticula of the colon. hp0009lx5z Colon diverticula|Colonic diverticulosis HP:0005860 SNOMEDCT_US:398050005|MEDDRA:10009993|UMLS:C0012811|MSH:D004241|UMLS:C0012819|MSH:D043963 human_phenotype owl:Class HP:0100269 biolink:NamedThing Paramedian lip pit Depression located paramedially on the vermilion of a lip. hp0009lx5z Paramedian labial pits A lip pit may be connected by a fistula to mucous minor salivary glands in the upper or lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). doelkens 2010-07-20T04:13:41Z UMLS:C4022175 human_phenotype owl:Class HP:0100267 biolink:NamedThing Lip pit A depression located on a lip. hp0009lx5z doelkens 2010-07-20T04:06:32Z UMLS:C0341059 human_phenotype owl:Class HP:0008348 biolink:NamedThing Decreased circulating IgG2 level A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. hp0009lx5z Decreased IgG2 level in blood|Reduced IgG2 levels|Immunoglobulin IgG2 deficiency HP:0008310 UMLS:C4021545 human_phenotype owl:Class HP:0032135 biolink:NamedThing Decreased circulating IgG subclass level A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood. hp0009lx5z Decreased IgG subclass level in blood 2018-11-22 14:26:10+00:00 IgG subclass deficiency is defined as a reduction in 1 or more subclasses of IgG (IgG1 and IgG2 in particular) by more than 2 SDs below the mean for age-matched controls. Deficiencies in IgG1 or IgG2 are more likely to cause low serum IgG levels because these are the major components. IgG1 levels stabilize by the age of 5 years; however, adult levels of IgG2, IgG3, and IgG4 may not be achieved until adolescence. Thus, the interpretation of subclass levels is additionally problematic because levels of each subclass increase at different rates during development. peter owl:Class HP:0033084 biolink:NamedThing Abnormal antral follicle count Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve. hp0009lx5z peter owl:Class HP:0031066 biolink:NamedThing Abnormal ovarian physiology Any anomaly of ovarian function. hp0009lx5z 2017-05-28 22:33:50+00:00 peter owl:Class HP:0100245 biolink:NamedThing Desmoid tumors Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. hp0009lx5z Desmoid tumours Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors. Risk factors for desmoid disease amongst FAP patients include female gender, a 3' APC mutation, a positive family history and a history of previous abdominal surgery. doelkens 2010-07-08T10:57:06Z SNOMEDCT_US:399994005|UMLS:C0079218|SNOMEDCT_US:400055004|MSH:D018222|NCIT:C3042|SNOMEDCT_US:47284001 human_phenotype owl:Class HP:0410278 biolink:NamedThing Pituitary gland cyst A fluid-filled sacs that develop on or near the pituitary gland. hp0009lx5z Cyst of the pituitary gland 2018-10-30 19:49:29+00:00 owl:Class HP:0009638 biolink:NamedThing Short proximal phalanx of thumb Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Short proximal thumb phalanx|Short proximal thumb bone|Short proximal phalanges of thumb|Hypoplastic/small proximal phalanx of the thumb doelkens 2009-01-29T05:11:02Z HP:0004079|HP:0006073 UMLS:C1855091 human_phenotype owl:Class HP:0009617 biolink:NamedThing Abnormality of the distal phalanx of the thumb Any anomaly of the distal phalanx of thumb. hp0009lx5z Abnormality of the outermost bone of the thumb|Abnormality of terminal thumb phalanx doelkens 2009-01-29T04:13:47Z HP:0004081 UMLS:C4021422 human_phenotype owl:Class HP:0004962 biolink:NamedThing Thoracic aorta calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta. hp0009lx5z UMLS:C1969292 owl:Class HP:0004963 biolink:NamedThing Calcification of the aorta Calcification, that is, pathological deposition of calcium salts in the aorta. hp0009lx5z Note that the phrase "aortic calcification" is mainly used to describe calcification of the aortic valve rather than of the aorta itself. UMLS:C1096249 owl:Class HP:0033210 biolink:NamedThing Congenital alveolar dysplasia Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries. hp0009lx5z 2020-10-12 11:35:45+00:00 peter owl:Class HP:0006703 biolink:NamedThing Aplasia/Hypoplasia of the lungs hp0009lx5z Absent/small lungs|Absent/underdeveloped lungs peter 2008-03-29T03:17:00Z UMLS:C4024996 owl:Class HP:0000563 biolink:NamedThing Keratoconus A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. hp0009lx5z Conical cornea|Bulging cornea Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge. SNOMEDCT_US:65636009|MSH:D007640|UMLS:C0022578 human_phenotype owl:Class HP:0100692 biolink:NamedThing Increased corneal curvature An increase in the degree of curvature of the cornea compared to normal. hp0009lx5z Steep corneal curvature doelkens 2011-02-18T05:01:31Z UMLS:C4020956 human_phenotype owl:Class HP:0100526 biolink:NamedThing Neoplasm of the lung Tumor of the lung. hp0009lx5z Lung cancer|Lung tumor|Lung tumour doelkens 2010-12-20T11:47:12Z UMLS:C0024121|SNOMEDCT_US:126713003|NCIT:C3262|MSH:D008175 human_phenotype owl:Class HP:0002088 biolink:NamedThing Abnormal lung morphology Any structural anomaly of the lung. hp0009lx5z Abnormally shaped lung|Abnormality of the lungs|Unusal lung shape|Abnormality of lung structure|Lung disease MSH:D008171|UMLS:C4021760|SNOMEDCT_US:19829001|UMLS:C0024115 owl:Class HP:0001561 biolink:NamedThing Polyhydramnios The presence of excess amniotic fluid in the uterus during pregnancy. hp0009lx5z Hydramnios|High levels of amniotic fluid Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. HP:0005098 UMLS:C0020224|MSH:D006831|SNOMEDCT_US:86203003 human_phenotype owl:Class HP:0001560 biolink:NamedThing Abnormality of the amniotic fluid Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. hp0009lx5z Abnormal amniotic fluid SNOMEDCT_US:42170009|UMLS:C0266781 human_phenotype owl:Class HP:0011299 biolink:NamedThing Partial absence of finger The absence of a phalangeal segment of a finger. hp0009lx5z Partial absence of finger The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without x-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers. hecht 2012-02-11T10:57:07Z UMLS:C4023423 human_phenotype owl:Class HP:0009994 biolink:NamedThing Partial duplication of the distal phalanx of the 5th finger Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Partial duplication of outermost pinkie finger bone|Bifid terminal phalanx of the 5th finger|Partial duplication of outermost little finger bone|Partial duplication of outermost pinky finger bone|Notched outermost pinky finger bone doelkens 2009-05-26T02:24:47Z UMLS:C4021350 human_phenotype owl:Class HP:0009987 biolink:NamedThing Partial duplication of the phalanges of the 5th finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. hp0009lx5z Partial duplication of the pinkie finger bone|Partial duplication of the little finger bone|Partial duplication of the pinky finger bone doelkens 2009-05-26T02:24:20Z UMLS:C4024127 human_phenotype owl:Class HP:0009830 biolink:NamedThing Peripheral neuropathy Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. hp0009lx5z Peripheral neuritis|Neuropathy|Peripheral nerve damage Terms from this subhierarchy should be used to describe morphological abnormalities seen in peripheral neuropathy. Functional deficits should be coded separately. peter 2009-03-01T07:49:18Z HP:0007088|HP:0003407|HP:0007235|HP:0007355|HP:0003157 SNOMEDCT_US:386033004|UMLS:C0031117|UMLS:C0442874|SNOMEDCT_US:42658009|MSH:D010523|SNOMEDCT_US:302226006 owl:Class HP:0012638 biolink:NamedThing Abnormal nervous system physiology A functional anomaly of the nervous system. hp0009lx5z Abnormality of nervous system physiology peter 2014-01-19T08:02:46Z UMLS:C4022811 human_phenotype owl:Class HP:0011032 biolink:NamedThing Abnormality of fluid regulation An abnormality of the regulation of body fluids. hp0009lx5z Abnormality of fluid regulation|Fluid imbalance peter 2011-03-05T09:09:27Z SNOMEDCT_US:190902006|UMLS:C2364164|SNOMEDCT_US:1860003 owl:Class HP:0033860 biolink:NamedThing Abnormal cortical peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the cortex of the kidney. hp0009lx5z 2021-06-23 17:35:32+00:00 peter owl:Class HP:0033859 biolink:NamedThing Abnormal peritubular capillary morphology Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, hp0009lx5z 2021-06-23 17:32:26+00:00 peter owl:Class HP:0002232 biolink:NamedThing Patchy alopecia Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. hp0009lx5z Alopecia areata|Patchy baldness HP:0002229 SNOMEDCT_US:68225006|MSH:D000506|UMLS:C0002171|UMLS:C1862862|MSH:C531609 owl:Class HP:0001596 biolink:NamedThing Alopecia A noncongenital process of hair loss, which may progress to partial or complete baldness. hp0009lx5z Hair loss HP:0008068|HP:0002238 SNOMEDCT_US:278040002|UMLS:C0002170|MSH:D000505|SNOMEDCT_US:56317004|MEDDRA:10001760 human_phenotype owl:Class HP:0005290 biolink:NamedThing Internal carotid artery hypoplasia hp0009lx5z Small internal carotid artery|Aplasia of internal carotid artery|Decreased size of internal carotid artery|Deficiency of internal carotid artery|Hypotrophic internal carotid artery UMLS:C4280493|UMLS:C4280492|UMLS:C4280491|UMLS:C1855736 human_phenotype owl:Class HP:3000062 biolink:NamedThing Abnormal internal carotid artery morphology An abnormality of an internal carotid artery. hp0009lx5z Abnormality of internal carotid artery vasilevs 2015-08-07T03:19:02Z UMLS:C1860488 owl:Class HP:0005291 biolink:NamedThing Inflammatory arteriopathy hp0009lx5z UMLS:C4025222 human_phenotype owl:Class HP:0002633 biolink:NamedThing Vasculitis Inflammation of blood vessel. hp0009lx5z Inflammation of blood vessel|Angiitis UMLS:C0042384|SNOMEDCT_US:31996006|MSH:D014657 owl:Class HP:0003021 biolink:NamedThing Metaphyseal cupping Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. hp0009lx5z UMLS:C1837082 human_phenotype owl:Class HP:0000944 biolink:NamedThing Abnormality of the metaphysis An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. hp0009lx5z Abnormality of the wide portion of a long bone HP:0006506 UMLS:C4025814 human_phenotype owl:Class HP:0003344 biolink:NamedThing 3-Methylglutaric aciduria hp0009lx5z 3-methylglutaricaciduria UMLS:C3151952 human_phenotype owl:Class HP:0003535 biolink:NamedThing 3-Methylglutaconic aciduria An increased amount of 3-methylglutaconic acid in the urine. hp0009lx5z 3-Methylglutaconicaciduria 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine. UMLS:C3696376|SNOMEDCT_US:237950009|MSH:C579867 owl:Class HP:0006619 biolink:NamedThing Anterior rib punctate calcifications Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. hp0009lx5z UMLS:C1859120 human_phenotype owl:Class HP:0040059 biolink:NamedThing Calcification of ribs hp0009lx5z HPO:skoehler UMLS:C4022461 owl:Class HP:0000171 biolink:NamedThing Microglossia Decreased length and width of the tongue. hp0009lx5z Small tongue|Hypoglossia|Hypoplasia of the tongue|Decreased size of tongue|Rudimentary tongue|Abnormally small tongue|Underdevelopment of the tongue|Lingual hypoplasia|Hypoplastic tongue Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. HP:0000226|HP:0009079 UMLS:C0426492|SNOMEDCT_US:32614006|UMLS:C0025988|SNOMEDCT_US:249380003|MSH:D014060 human_phenotype owl:Class HP:0010295 biolink:NamedThing Aplasia/Hypoplasia of the tongue Absence or underdevelopment of the tongue. hp0009lx5z Lingual aplasia/hypoplasia peter 2009-07-12T11:41:04Z UMLS:C4280384|UMLS:C4023916 human_phenotype owl:Class HP:0003897 biolink:NamedThing Irregular ossification of the humeral epiphyses hp0009lx5z Irregular maturation of the end part of the long bone in upper arm UMLS:C4025523|UMLS:C4280542 human_phenotype owl:Class HP:0010656 biolink:NamedThing Abnormal epiphyseal ossification An abnormality of the formation and mineralization of an epiphysis. hp0009lx5z Abnormality of the mineralisation or ossification of the epiphyses|Abnormal maturation of the end part of a bone doelkens 2010-02-25T09:43:04Z UMLS:C4021246 human_phenotype owl:Class HP:0009564 biolink:NamedThing Triangular shaped distal phalanx of the 2nd finger Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped outermost bone of the 2nd finger doelkens 2009-01-28T04:16:02Z UMLS:C4024289 human_phenotype owl:Class HP:0009546 biolink:NamedThing Triangular shaped phalanges of the 2nd finger Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular bones of index finger|Triangular index finger phalanges doelkens 2009-01-21T10:19:34Z HP:0004117 UMLS:C4021445 human_phenotype owl:Class HP:0033304 biolink:NamedThing Elevated urine 4-hydroxyphenylacetic acid level Increased amount of 4-hydroxyphenylacetic acid in the urine. hp0009lx5z 2020-11-28 22:07:57+00:00 peter owl:Class HP:0003607 biolink:NamedThing 4-hydroxyphenylacetic aciduria Increased concentration of 4-hydroxyphenylacetic acid in the urine. hp0009lx5z 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. UMLS:C1848680|MSH:C535315 owl:Class HP:0031634 biolink:NamedThing Anomalous origin of the left common carotid artery from the main pulmonary artery The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery. hp0009lx5z 2017-12-17 12:26:12+00:00 peter owl:Class HP:0430021 biolink:NamedThing Abnormal common carotid artery morphology An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery. hp0009lx5z Abnormality of the common carotid artery UMLS:C4073203 owl:Class HP:0100017 biolink:NamedThing Capsular cataract A cataract that affects the capsule of the lens. hp0009lx5z doelkens 2010-05-27T06:01:54Z SNOMEDCT_US:204125003|UMLS:C0339352 human_phenotype owl:Class HP:0000518 biolink:NamedThing Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. hp0009lx5z Clouding of the lens of the eye|Lens opacities|Cloudy lens|Cataracts|Lens opacity Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). HP:0001113|HP:0010700|HP:0007825 UMLS:C1510497|UMLS:C0086543|SNOMEDCT_US:193570009|SNOMEDCT_US:247053007|SNOMEDCT_US:128306009|MSH:D002386|Fyler:4865 human_phenotype owl:Class HP:0012104 biolink:NamedThing Parietal cortical atrophy Atrophy of the parietal cortex. hp0009lx5z peter 2012-09-08T02:50:05Z UMLS:C4023041 human_phenotype owl:Class HP:0002120 biolink:NamedThing Cerebral cortical atrophy Atrophy of the cortex of the cerebrum. hp0009lx5z Decrease in size of the outer layer of the brain due to loss of brain cells|Cerebral cortex atrophy|Cortical atrophy Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. HP:0006835|HP:0006823 UMLS:C0235946|SNOMEDCT_US:278849000 human_phenotype owl:Class HP:0033962 biolink:NamedThing Cortical radial artery medial/intimal granulomatous arteriitis A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. hp0009lx5z 2021-06-24 12:39:37+00:00 peter owl:Class HP:0033913 biolink:NamedThing Cortical radial artery medial/intimal arteriitis Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. hp0009lx5z Interlobular artery medial/intimal arteriitis|Arteritis within interlobular arterial intima/media 2021-06-23 23:12:15+00:00 peter owl:Class HP:0010936 biolink:NamedThing Abnormality of the lower urinary tract An abnormality of the lower urinary tract. hp0009lx5z The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra. peter 2011-01-16T11:39:17Z UMLS:C4023640 human_phenotype owl:Class HP:0000079 biolink:NamedThing Abnormality of the urinary system An abnormality of the urinary system. hp0009lx5z Urinary tract abnormality|Urinary tract anomalies|Urinary tract abnormalities UMLS:C4021821 human_phenotype owl:Class HP:0033136 biolink:NamedThing Lymph node abscess An inflammed lymph node that is filled with pus. hp0009lx5z 2020-09-09 13:33:39+00:00 peter owl:Class HP:0002733 biolink:NamedThing Abnormality of the lymph nodes A lymph node abnormality. hp0009lx5z Abnormal lymph node histology|Abnormality of the lymph nodes HP:0008149 UMLS:C0149727 owl:Class HP:0007097 biolink:NamedThing Cranial nerve motor loss hp0009lx5z UMLS:C4024940 human_phenotype owl:Class HP:0002460 biolink:NamedThing Distal muscle weakness Reduced strength of the musculature of the distal extremities. hp0009lx5z Muscle weakness, distal limbs, due to neuronopathy|Distal limb muscle weakness due to peripheral neuropathy|Weakness of distal muscles|Distal limb muscle weakness|Distal paresis|Weakness of outermost muscles|Distal muscular weakness|Distal limb weakness|Muscle weakness, distal Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. HP:0002935|HP:0003497|HP:0009008|HP:0002598|HP:0006940 UMLS:C1864696|SNOMEDCT_US:249942005|UMLS:C0427065 human_phenotype owl:Class HP:0001324 biolink:NamedThing Muscle weakness Reduced strength of muscles. hp0009lx5z Muscular weakness|Muscle weakness It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. HP:0002309|HP:0009012|HP:0009061|HP:0008979 SNOMEDCT_US:26544005|UMLS:C0151786|MSH:D018908 human_phenotype owl:Class HP:0041175 biolink:NamedThing Fractured middle phalanx of pes A partial or complete breakage of the middle phalanx of pes. hp0009lx5z bone middle phalanx of pes owl:Class HP:0012318 biolink:NamedThing Occipital neuralgia A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side. hp0009lx5z Typically, the pain of occipital neuralgia begins at the base of the head and spreads upward within the distribution of the greater and lesser occipital nerves. Characteristically, it is neuropathic, with paroxysmal episodes of shooting electric shock-like symptoms. peter 2013-08-10T01:07:45Z SNOMEDCT_US:71760005|UMLS:C0007863 owl:Class HP:0002315 biolink:NamedThing Headache Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. hp0009lx5z Headaches|Headache Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. HP:0000266|HP:0001354 MSH:D006261|SNOMEDCT_US:25064002|UMLS:C0018681 human_phenotype owl:Class HP:0000317 biolink:NamedThing Facial myokymia Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). hp0009lx5z Involuntary facial contraction|Involuntary facial quivering Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes. HP:0004651 UMLS:C0270871|SNOMEDCT_US:1070000|MSH:D005155 human_phenotype owl:Class HP:0002411 biolink:NamedThing Myokymia Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. hp0009lx5z Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity. SNOMEDCT_US:27678003|UMLS:C0684219|MSH:D020385 human_phenotype owl:Class HP:0010694 biolink:NamedThing Lamellar pulverulent cataract A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance. hp0009lx5z Opacities located in the perinuclear (lamellar) zones of the lens. peter 2010-03-20T11:43:14Z UMLS:C4023735 human_phenotype owl:Class HP:0007971 biolink:NamedThing Lamellar cataract A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. hp0009lx5z SNOMEDCT_US:204128001|UMLS:C0266537|SNOMEDCT_US:21590003 human_phenotype owl:Class HP:0001128 biolink:NamedThing Trichiasis Inversion and rubbing of the eyelashes against the globe of the eye. hp0009lx5z Introversion of eyelashes|Trichiasis of eyelid eyelashes|Ingrown eyelashes Eyelash inversion. MSH:D058457|SNOMEDCT_US:60332004|UMLS:C0221259 human_phenotype owl:Class HP:0000499 biolink:NamedThing Abnormal eyelash morphology An abnormality of the eyelashes. hp0009lx5z Abnormality of the eyelashes|Abnormal eyelashes|Eyelash abnormality HP:0004530 UMLS:C2675111 human_phenotype owl:Class HP:0500079 biolink:NamedThing Alternating hypophoria A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards. hp0009lx5z 2018-02-26 19:24:11+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0031725 biolink:NamedThing Hypophoria A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards. hp0009lx5z 2018-01-13 14:23:16+00:00 peter owl:Class HP:0030690 biolink:NamedThing Gingival cleft A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla. hp0009lx5z UMLS:C0426489|SNOMEDCT_US:109622003 owl:Class HP:0000168 biolink:NamedThing Abnormality of the gingiva Any abnormality of the gingiva (also known as gums). hp0009lx5z Abnormality of the gums|Gingival abnormality The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. UMLS:C4021816 human_phenotype owl:Class HP:0100276 biolink:NamedThing Skin pit A small, skin-lined tract that leads from the surface to deep within the tissues. hp0009lx5z Skin pit|Skin pits doelkens 2010-08-05T10:51:32Z UMLS:C4022172|UMLS:C4020712 human_phenotype owl:Class HP:0011355 biolink:NamedThing Localized skin lesion A lesion of the skin that is located in a specific region rather than being generalized. hp0009lx5z Localized skin lesion|Localised skin lesion peter 2012-03-01T02:37:43Z UMLS:C0850826 owl:Class HP:0007970 biolink:NamedThing Congenital ptosis hp0009lx5z Congenital drooping upper eyelid UMLS:C0266573|SNOMEDCT_US:61989004|SNOMEDCT_US:268163008 human_phenotype owl:Class HP:0000508 biolink:NamedThing Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). hp0009lx5z Eyelid ptosis|Blepharoptosis|Eye drop|Drooping upper eyelid SNOMEDCT_US:11934000|MSH:D001763|UMLS:C0005745 human_phenotype owl:Class HP:0031073 biolink:NamedThing Abnormal response to endocrine stimulation test An anomalous response to a test that is designed to probe the function of the endocrine system. hp0009lx5z 2017-05-28 23:14:39+00:00 peter owl:Class HP:0031072 biolink:NamedThing Abnormal endocrine physiology Any anomaly of the function of the endocrine system. hp0009lx5z 2017-05-28 23:12:36+00:00 peter owl:Class HP:0002718 biolink:NamedThing Recurrent bacterial infections Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. hp0009lx5z Frequent bacterial infections|Susceptibility to pyogenic infection|Bacterial infections, recurrent|Frequent pyogenic infections|Recurrent pyogenic infections|Increased susceptibility to bacterial infections|Prone to bacterial infection|Recurrent major bacterial infections|Recurrent bacterial infections HP:0005410|HP:0005391|HP:0005361|HP:0005367|HP:0005393|HP:0005355 UMLS:C4020846|SNOMEDCT_US:428875002|UMLS:C2748958|UMLS:C1844383 human_phenotype owl:Class HP:0002719 biolink:NamedThing Recurrent infections Increased susceptibility to infections. hp0009lx5z infections, recurrent|Susceptibility to infection|Frequent infections|Recurrent infections|Predisposition to infections|Increased frequency of infection|Frequent, severe infections HP:0002964|HP:0005405|HP:0002957 UMLS:C0239998 owl:Class HP:0006707 biolink:NamedThing Abnormality of the hepatic vasculature An abnormality of the hepatic vasculature. hp0009lx5z Abnormality of liver blood vessels|Abnormality of the liver vasculature peter 2008-03-29T03:41:00Z UMLS:C4024994 owl:Class HP:0410042 biolink:NamedThing Abnormal liver morphology Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. hp0009lx5z 2017-09-20 00:22:53+00:00 ORCID:0000-0001-5208-3432 Fyler:4447 owl:Class HP:0011346 biolink:NamedThing Mild expressive language delay A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. hp0009lx5z peter 2012-03-01T08:46:23Z UMLS:C3532934|SNOMEDCT_US:62231000119108 owl:Class HP:0002474 biolink:NamedThing Expressive language delay A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. hp0009lx5z Deficit in expressive language|Communication delay HP:0007192 UMLS:C4280573|SNOMEDCT_US:229734008|UMLS:C0454641|UMLS:C1847610 owl:Class HP:0025127 biolink:NamedThing Actinic keratosis A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color. hp0009lx5z Solar keratosis 2016-11-14 02:23:13+00:00 Up to ten percent of untreated actinic keratoses develop into squamous cell carcinoma of the skin. HPO:probinson owl:Class HP:0011654 biolink:NamedThing Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. hp0009lx5z Double outlet right ventricle, noncommitted ventricular septal defect|DORV with non-committed VSD without pulmonary stenosis peter 2012-04-09T10:06:32Z UMLS:C4023245|Fyler:603|Fyler:0603 human_phenotype owl:Class HP:0001719 biolink:NamedThing Double outlet right ventricle Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. hp0009lx5z DORV|Double-outlet right ventricle During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. SNOMEDCT_US:7484005|MSH:D004310|Fyler:606|Fyler:600|UMLS:C0013069 human_phenotype owl:Class HP:0002979 biolink:NamedThing Bowing of the legs A bending or abnormal curvature affecting a long bone of the leg. hp0009lx5z Bowed lower limbs|Bow legs|Bowed legs|Bow-leggedness HP:0006428 UMLS:C0544755|MSH:D056305|SNOMEDCT_US:299331007 human_phenotype owl:Class HP:0002981 biolink:NamedThing Abnormality of the calf An abnormality of the calf, i.e. of the posterior part of the lower leg. hp0009lx5z Abnormality of the calf UMLS:C4021832 human_phenotype owl:Class HP:0100051 biolink:NamedThing Pseudoepiphyses of the 2nd toe hp0009lx5z doelkens 2010-06-24T09:58:18Z UMLS:C4022370 human_phenotype owl:Class HP:0025526 biolink:NamedThing Psoriasiform lesion A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus. hp0009lx5z Psoriatic-like lesion|Erythematosquamous plaque|Erythemato-squamous plaque 2017-05-17 23:58:25+00:00 HPO:probinson owl:Class HP:0040189 biolink:NamedThing Scaling skin Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. hp0009lx5z peeling skin|Scaly skin|Desquamation|flaking skin|Scaling skin SNOMEDCT_US:271767006|UMLS:C0237849|SNOMEDCT_US:14411002 owl:Class HP:0010273 biolink:NamedThing Irregular epiphyses of the proximal phalanges of the hand hp0009lx5z Irregular end part of the innermost hand bones doelkens 2009-07-06T04:25:12Z UMLS:C4023928 human_phenotype owl:Class HP:0010245 biolink:NamedThing Abnormality of the epiphyses of the proximal phalanges of the hand hp0009lx5z Abnormality of the end part of the innermost hand bones doelkens 2009-07-06T04:21:32Z UMLS:C4023954 human_phenotype owl:Class HP:0011281 biolink:NamedThing Abnormality of urine catecholamine concentration An abnormal level of urinary catecholamine concentration. hp0009lx5z Any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine. peter 2011-12-30T03:35:18Z UMLS:C4023433|MP:0011478 human_phenotype owl:Class HP:0033354 biolink:NamedThing Abnormal urine metabolite level Any deviation from the normal concentration of a metabolite in urine. hp0009lx5z 2020-12-01 12:00:51+00:00 As water reabsorption in kidneys affect urinary solute concentrations, various methods are applied to normalize the measured concentration. Frequently, concentrations are reported as a ratio to urinary creatinine. The HPO terms in this subhierarchy therefore use the word 'level' to indicate that appropriate normalization has been performed before concluding that the amount of the indicated metabolite is abnormal. peter owl:Class HP:0012720 biolink:NamedThing Neoplasm of the nose Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity. hp0009lx5z Tumor of the nose|Nasal tumor|Nose cancer|Nasal neoplasm|Neoplasia of the nose|Nasal tumour|Tumour of the nose peter 2014-03-23T01:16:06Z HP:0100637 UMLS:C0028433|MSH:D009669|SNOMEDCT_US:126669004|NCIT:C3262|UMLS:C0751394 human_phenotype owl:Class HP:0012289 biolink:NamedThing Facial neoplasm A tumor (abnormal growth of tissue) of the face. hp0009lx5z Face tumour|Face tumor peter 2013-04-11T05:46:35Z NCIT:C3262|UMLS:C0015461|MSH:D005153|SNOMEDCT_US:126632002 human_phenotype owl:Class HP:0010919 biolink:NamedThing Abnormal circulating homocysteine concentration An abnormality of a homocysteine metabolic process. hp0009lx5z peter 2010-12-11T11:48:52Z UMLS:C4023651 human_phenotype owl:Class HP:0004339 biolink:NamedThing Abnormal circulating sulfur amino acid concentration Any deviation from the normal concentration of a sulfur amino acid in the blood circulation. hp0009lx5z Abnormal circulating sulphur amino acid concentration|Abnormality of sulfur-containing amino acids Cysteine and methionine contain a sulfur atom. peter 2008-03-08T08:01:00Z UMLS:C4021660 human_phenotype owl:Class HP:0032227 biolink:NamedThing Sebaceous hyperplasia A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. hp0009lx5z 2019-01-26 14:30:41+00:00 peter owl:Class HP:0032226 biolink:NamedThing Abnormal sebaceous gland morphology Any structural anomaly of the sebaceous glands. hp0009lx5z 2019-01-26 14:26:26+00:00 Sebaceous glands are found all over the human body except on the palms of the hands and soles of the feet. The glands are numerous on the face and scalp and are sparse in areas such as the back. They can number as many as 400-900 glands/cm2 on the face. Sebaceous glands are usually found in association with a hair follicle, which, together, is referred to as a pilosebaceous unit. The sebaceous gland is located in association with the upper portion of the hair follicle, where it is not affected by the hair cycle. Sebaceous glands can be unilobular or multilobular. Although a majority of sebaceous glands are part of a pilosebaceous unit, some glands can be found without an associated hair follicle. Sebaceous glands secrete sebum, which contains cholesterol, cholesteryl esters, squalene, fatty acids, diglycerides and triglycerides, and wax esters. peter owl:Class HP:0012246 biolink:NamedThing Oculomotor nerve palsy Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). hp0009lx5z Oculomotor neuropathy peter 2013-04-02T07:15:18Z MSH:D015840|SNOMEDCT_US:388980004|UMLS:C0028866 human_phenotype owl:Class HP:0006824 biolink:NamedThing Cranial nerve paralysis hp0009lx5z Cranial nerve palsies|Cranial nerve paresis|Cranial nerve palsy HP:0002377|HP:0001353 UMLS:C4025709|UMLS:C0151311|SNOMEDCT_US:73013002|MSH:D003389 human_phenotype owl:Class HP:0009974 biolink:NamedThing Partial duplication of the phalanges of the 4th finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. hp0009lx5z Partial duplication of the bones of the ring finger doelkens 2009-05-26T02:20:08Z UMLS:C4024134 human_phenotype owl:Class HP:0009999 biolink:NamedThing Partial duplication of the phalanx of hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. hp0009lx5z Partial duplication of hand bones doelkens 2009-05-26T02:30:35Z UMLS:C4024120 human_phenotype owl:Class HP:0010873 biolink:NamedThing Cervical spinal cord atrophy Atrophy of the cervical segment of the spinal cord. hp0009lx5z peter 2010-08-25T03:41:38Z UMLS:C0742191 human_phenotype owl:Class HP:0006827 biolink:NamedThing Atrophy of the spinal cord hp0009lx5z Degeneration of the spinal cord UMLS:C1389102 human_phenotype owl:Class HP:0010663 biolink:NamedThing Abnormality of thalamus morphology An abnormality of the thalamus. hp0009lx5z Abnormal shape of thalamus|Abnormality of the thalamus peter 2010-02-26T08:03:50Z UMLS:C4021243 human_phenotype owl:Class HP:0010662 biolink:NamedThing Abnormality of the diencephalon An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. hp0009lx5z The diencephalon comprises the thalamus, hypothalamus, epithalamus, prethalamus or subthalamus and pretectum. peter 2010-02-26T08:02:38Z UMLS:C4023752 human_phenotype owl:Class HP:0009825 biolink:NamedThing Aplasia involving bones of the extremities hp0009lx5z Absent bones of the extremities doelkens 2009-02-23T05:16:44Z UMLS:C4024193 human_phenotype owl:Class HP:0045060 biolink:NamedThing Aplasia/hypoplasia involving bones of the extremities hp0009lx5z UMLS:C4073181 owl:Class HP:0100042 biolink:NamedThing Broad 4th toe A broad appearance of the fourth toe. hp0009lx5z Broad 4th toe|Wide 4th toe doelkens 2010-06-24T09:55:43Z UMLS:C4022379 human_phenotype owl:Class HP:0001837 biolink:NamedThing Broad toe Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. hp0009lx5z Wide toe|Broad toe Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient. UMLS:C1865038 human_phenotype owl:Class HP:0009516 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 2nd finger hp0009lx5z Enlarged end part of the middle bone of the index finger doelkens 2009-01-16T01:12:17Z UMLS:C4024317 human_phenotype owl:Class HP:0009491 biolink:NamedThing Enlarged epiphyses of the 2nd finger Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the index finger doelkens 2009-01-16T01:07:16Z UMLS:C4024334 human_phenotype owl:Class HP:0033195 biolink:NamedThing Perianal erythema Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus. hp0009lx5z 2020-10-10 15:51:04+00:00 peter owl:Class HP:0010783 biolink:NamedThing Erythema Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. hp0009lx5z Redness of skin or mucous membrane peter 2010-04-30T11:40:43Z MSH:D005483|SNOMEDCT_US:271811009|MSH:D004890|SNOMEDCT_US:238810007|UMLS:C0016382|SNOMEDCT_US:20255002|SNOMEDCT_US:86735004|SNOMEDCT_US:247441003|SNOMEDCT_US:70819003|SNOMEDCT_US:444827008|UMLS:C0041834 owl:Class HP:0200113 biolink:NamedThing Aphalangy of hands and feet hp0009lx5z Aphalangy, hands and feet sebastiankohler 2013-06-05T12:27:09Z UMLS:C4021887 human_phenotype owl:Class HP:0009776 biolink:NamedThing Adactyly The absence of all phalanges of all the digits of a limb and the associated soft tissues. hp0009lx5z Aphalangy|Absent fingers or toes This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly. doelkens 2009-02-02T05:44:39Z UMLS:C0238591|UMLS:C4280394|Fyler:4173|SNOMEDCT_US:275348004 human_phenotype owl:Class HP:3000079 biolink:NamedThing Abnormal mandibular symphysis morphology A structural abnormality of a mandibular symphysis. hp0009lx5z Abnormality of mandible symphysis vasilevs 2015-08-07T03:39:28Z UMLS:C4073286 human_phenotype owl:Class HP:0031816 biolink:NamedThing Abnormal oral morphology Any structural anomaly of the mouth, which is also known as the oral cavity. hp0009lx5z 2018-04-29 14:55:47+00:00 peter owl:Class HP:0003411 biolink:NamedThing Proximal femoral metaphyseal irregularity Irregularity of the normally smooth surface of the proximal metaphysis of the femur. hp0009lx5z Irregular proximal femoral metaphyses UMLS:C1836320 human_phenotype owl:Class HP:0006431 biolink:NamedThing Proximal femoral metaphyseal abnormality An anomaly of the metaphysis of the proximal femur (close to the hip). hp0009lx5z Abnormal wide portion of innermost thighbone UMLS:C4025047 human_phenotype owl:Class HP:0100054 biolink:NamedThing Triangular epiphyses of the 2nd toe hp0009lx5z Triangular end part of the 2nd toe bone doelkens 2010-06-24T09:58:18Z UMLS:C4022367 human_phenotype owl:Class HP:0010172 biolink:NamedThing Triangular epiphyses of the toes hp0009lx5z Triangular end part of the toe bones doelkens 2009-05-29T01:34:06Z UMLS:C4023988 human_phenotype owl:Class HP:0011177 biolink:NamedThing EEG with 4-5/second background activity EEG background activity at 4-5/second. hp0009lx5z EEG background activity at 4-5/second is rare and unusual but not generally pathologic. hecht 2011-11-19T10:20:59Z UMLS:C4023495 human_phenotype owl:Class HP:0011176 biolink:NamedThing EEG with constitutional variants An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic. hp0009lx5z hecht 2011-11-19T10:18:43Z UMLS:C4023496 human_phenotype owl:Class HP:0010238 biolink:NamedThing Triangular epiphyses of the phalanges of the hand A triangular appearance of the epiphyses of the phalanges of the fingers of the hand. hp0009lx5z Triangular epiphyses of the fingers|Delta-shaped epiphyses of the fingers|Triangular end part of finger bones doelkens 2009-07-06T03:31:52Z HP:0009369 UMLS:C4021303 human_phenotype owl:Class HP:0005920 biolink:NamedThing Abnormal epiphysis morphology of the phalanges of the hand Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). hp0009lx5z peter 2008-03-27T02:21:00Z HP:0009151 UMLS:C4021613 human_phenotype owl:Class HP:0010519 biolink:NamedThing Increased fetal movement An abnormal increase in quantity or strength of fetal movements. hp0009lx5z Foetal hyperkinesia|Fetal hyperkinesia|Increased foetal movement peter 2009-09-20T10:44:15Z UMLS:C4021256 human_phenotype owl:Class HP:0001557 biolink:NamedThing Prenatal movement abnormality An abnormality of fetal movement. hp0009lx5z Abnormal intrauterine movements Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. HP:0007629 UMLS:C1849510 human_phenotype owl:Class HP:0011884 biolink:NamedThing Abnormal umbilical stump bleeding Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. hp0009lx5z peter 2012-06-02T10:25:45Z UMLS:C4023145 human_phenotype owl:Class HP:0001892 biolink:NamedThing Abnormal bleeding An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. hp0009lx5z Bleeding tendency|Bleeding diathesis|Hemorrhagic diathesis This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. HP:0004865|HP:0004862|HP:0008183|HP:0004834|HP:0004830|HP:0004849 SNOMEDCT_US:64779008|UMLS:C1458140|SNOMEDCT_US:248250000 human_phenotype owl:Class HP:0100381 biolink:NamedThing Absent middle phalanx of the 3rd toe Developmental aplasia of the middle phalanx of third toe. hp0009lx5z Aplasia of the middle phalanx of the 3rd toe|Absent middle phalanx of the third toe|Absent middle bone of the 3rd toe UMLS:C4021010 human_phenotype owl:Class HP:0100372 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 3rd toe hp0009lx5z Absent/small middle 3rd toe bone|Absent/underdeveloped middle 3rd toe bone UMLS:C4022119 human_phenotype owl:Class HP:0200102 biolink:NamedThing Sparse or absent eyelashes hp0009lx5z Sparse to absent eyelashes|Partial to total absence of eyelashes|Sparse or absent eyelashes sebastiankohler 2013-06-05T12:03:01Z UMLS:C1862855|UMLS:C3551431|UMLS:C1835157 human_phenotype owl:Class HP:0010174 biolink:NamedThing Broad phalanx of the toes Increased width of phalanx of one or more toes. hp0009lx5z Wide toe bones doelkens 2009-05-29T01:39:26Z UMLS:C4023986 human_phenotype owl:Class HP:0033289 biolink:NamedThing Glomerular basement membrane wrinkling Irregular folding of the glomerular basement membrane with an intact lamina densa. hp0009lx5z 2020-11-28 21:18:45+00:00 Wrinkling and folding of the glomerular basement membrane (GBM) without glomerular epithelial cell hypertrophy and hyperplasia (formerly known an ischemic type of collapse). The urinary space is patent. The wrinkling is generally made by small regular infoldings of the GBM. peter owl:Class HP:0033282 biolink:NamedThing Abnormal glomerular basement membrane morphology Any abnormal sttructure of the glomerular basement membrane. hp0009lx5z 2020-11-28 20:24:00+00:00 The (GBM) is an integral component of the glomerular filtration barrier; an important and highly complex capillary wall that is exposed to mechanical forces driven by capillary hydrostatic pressure. This barrier is permeable to water and small molecules, and selectively withholds cells and macromolecules such as albumin in the circulation. peter owl:Class HP:4000029 biolink:NamedThing Antigliadin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin. hp0009lx5z AGA autoantibodies 2021-05-02 14:57:22+00:00 robinp owl:Class HP:0012350 biolink:NamedThing Decreased sialylation of N-linked protein glycosylation Decreased addition of sialic acids to N-linked glycans. hp0009lx5z peter 2013-09-15T10:14:42Z UMLS:C4022941 human_phenotype owl:Class HP:0012349 biolink:NamedThing Abnormal sialylation of N-linked protein glycosylation An anomaly of the addition of sialic acids to N-linked glycans. hp0009lx5z The most common sialic acids is N-acetylneuraminic acid (Neu5Ac). peter 2013-09-15T10:08:34Z UMLS:C4022942 human_phenotype owl:Class HP:0032840 biolink:NamedThing Neonatal bilateral symmetric epileptic spasm Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body. hp0009lx5z peter owl:Class HP:0032833 biolink:NamedThing Neonatal epileptic spasm A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters. hp0009lx5z May be difficult to differentiate from myoclonic seizures without electromyography. peter owl:Class HP:0025609 biolink:NamedThing Anterior blepharitis A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles. hp0009lx5z 2018-01-13 22:52:54+00:00 HPO:probinson owl:Class HP:0000498 biolink:NamedThing Blepharitis Inflammation of the eyelids. hp0009lx5z Inflammation of eyelids|Cellulitis of eyelids UMLS:C0005741|SNOMEDCT_US:41446000|MSH:D001762|SNOMEDCT_US:231796003|UMLS:C0339063 human_phenotype owl:Class HP:0100241 biolink:NamedThing Ectopic respiratory mucosa Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. hp0009lx5z Ectopic respiratory mucosa is a very rare finding and has been associated with unilateral skeletal malformation, most commonly with preaxial polydactyly which may be mirror-image like. doelkens 2010-06-29T11:18:12Z UMLS:C4022182 human_phenotype owl:Class HP:0002973 biolink:NamedThing Abnormality of the forearm An abnormality of the lower arm. hp0009lx5z Abnormality of the forearm UMLS:C4025666 human_phenotype owl:Class HP:0005752 biolink:NamedThing Flattened moderately deformed vertebrae hp0009lx5z UMLS:C4025142 human_phenotype owl:Class HP:0000926 biolink:NamedThing Platyspondyly A flattened vertebral body shape with reduced distance between the vertebral endplates. hp0009lx5z Flattened vertebrae|Flat vertebral bodies|Flattened vertebral bodies HP:0005644|HP:0002940|HP:0004595|HP:0005123|HP:0003421|HP:0004623|HP:0004627|HP:0008466 UMLS:C1844704 human_phenotype owl:Class HP:0005101 biolink:NamedThing High-frequency hearing impairment A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). hp0009lx5z High frequency hearing loss|Progressive high frequency hearing loss|High-frequency deafness|Progressive high-frequency hearing loss|Hearing loss, high-frequency High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally. peter 2008-03-25T05:03:00Z HP:0008522|HP:0008584|HP:0008597 UMLS:C0018780|SNOMEDCT_US:232326009|SNOMEDCT_US:48758008|MSH:D006316 human_phenotype owl:Class HP:0000365 biolink:NamedThing Hearing impairment A decreased magnitude of the sensory perception of sound. hp0009lx5z Deafness|Hearing loss|Hypoacusis|Hypacusis|Hearing impairment|Hearing defect Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. HP:0001729|HP:0001754|HP:0001728|HP:0008563|HP:0008560|HP:0000404 UMLS:C0011053|Fyler:4868|MSH:D003638|UMLS:C0339789|UMLS:C1384666|SNOMEDCT_US:15188001|SNOMEDCT_US:95828007|UMLS:C0018772|MSH:D034381|SNOMEDCT_US:103276001|SNOMEDCT_US:343087000 owl:Class HP:0032785 biolink:NamedThing Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0011159 biolink:NamedThing Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. hp0009lx5z Localized seizure with epigastric sensation|Visceral aura|Partial seizure with epigastric sensation|Abdominal aura|Epigastric aura|Localised seizure with epigastric sensation|Epigastric auras This includes epigastric sensations (which may rise up to the chest or throat) such as upper abdominal discomfort, emptiness, tightness, churning, or hunger, as well as ictal nausea and ictal vomiting. peter 2011-10-18T02:27:58Z UMLS:C4023506 owl:Class HP:0030834 biolink:NamedThing Shoulder pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder. hp0009lx5z Shoulder pain UMLS:C0037011|SNOMEDCT_US:45326000|MSH:D020069 owl:Class HP:0012531 biolink:NamedThing Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. hp0009lx5z Pain peter 2013-12-15T09:38:08Z UMLS:C0030193|SNOMEDCT_US:22253000|MSH:D010146 owl:Class HP:0011609 biolink:NamedThing Type III truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta. hp0009lx5z Type 3 truncus arteriosus|Persistent truncus arteriosus type III According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. peter 2012-04-08T03:08:53Z Fyler:530|Fyler:0530|UMLS:C4021136 human_phenotype owl:Class HP:0001660 biolink:NamedThing Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. hp0009lx5z Persistant truncus arteriosus|Common arterial trunk MSH:D014338|Fyler:0500|SNOMEDCT_US:58140002|UMLS:C0041206|Fyler:500|ICD-10:Q20.0|UMLS:C4020867 human_phenotype owl:Class HP:0000215 biolink:NamedThing Thick upper lip vermilion Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). hp0009lx5z Increased volume of upper lip vermilion|Increased height of upper lip vermilion|Prominent upper lip vermilion|Thick vermilion border of upper lip|Increased volume of upper lip|Prominent upper lip|Plump upper lip|Full upper lip vermilion|Thick upper lip|Full upper lip|Thick red part of the upper lip Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual. HP:0000231 UMLS:C1846423 human_phenotype owl:Class HP:0011339 biolink:NamedThing Abnormality of upper lip vermillion An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. hp0009lx5z Anomaly of the upper lip vermillion|Malformation of the upper lip vermillion|Abnormality of the red part of the upper lip|Deformity of the upper lip vermillion peter 2012-02-26T01:32:28Z UMLS:C4023406 human_phenotype owl:Class HP:0012373 biolink:NamedThing Abnormal eye physiology A functional anomaly of the eye. hp0009lx5z Abnormal eye physiology peter 2013-10-13T03:45:37Z UMLS:C4022924 human_phenotype owl:Class HP:0025350 biolink:NamedThing Giant conjunctival papillae Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein. hp0009lx5z 2017-02-13 00:05:03+00:00 HPO:probinson owl:Class HP:0030946 biolink:NamedThing Conjunctival papillae Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells. hp0009lx5z 2017-01-13 20:21:47+00:00 Papillae may be observed with papillary conjunctivitis. The inflammatory cells in the papillae may differ according to the cause. For instance, eosinophils predominate in allergic conditions and neutrophils in bacterial disease. robinp owl:Class HP:0020208 biolink:NamedThing Eating-induced seizure A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period. hp0009lx5z robinp 2020-02-24 13:39:28+00:00 owl:Class HP:0020207 biolink:NamedThing Reflex seizure Seizures precipitated by exogenous stimuli. hp0009lx5z Included in 2001 ILAE Proposed Classification of Seizures. Seizures precipitated by fever, head injury, or alcohol withdrawal or anti-epileptic medication withdrawal are not provoked seizures. robinp 2020-02-24 13:36:35+00:00 owl:Class HP:0010403 biolink:NamedThing Duplication of the proximal phalanx of the 2nd toe Partial or complete duplication of proximal phalanx of second toe. hp0009lx5z Duplication of innermost 2nd toe bone|Partial/complete duplication of the proximal phalanx of the 2nd toe|Duplication of the proximal phalanx of the second toe doelkens 2009-07-16T11:58:15Z UMLS:C4021274 human_phenotype owl:Class HP:0010358 biolink:NamedThing Abnormality of the proximal phalanx of the 2nd toe hp0009lx5z Abnormality of the innermost bone of the 2nd toe doelkens 2009-07-16T11:45:34Z UMLS:C4023883 human_phenotype owl:Class HP:0009191 biolink:NamedThing Ivory epiphyses of the metacarpals Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the long bone of hands doelkens 2008-12-30T02:03:34Z UMLS:C4024545 human_phenotype owl:Class HP:0011001 biolink:NamedThing Increased bone mineral density An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. hp0009lx5z Increased bone density|Osteosclerosis|Osteosclerosis of bones|Increased bone mineral density This term may be merged with Increased bone density in the future or made obsolete. sdoelken 2011-02-13T11:57:32Z HP:0005711|HP:0005741|HP:0004350|HP:0010738|HP:0002796 SNOMEDCT_US:49347007|MSH:D010026|UMLS:C0029464 human_phenotype owl:Class HP:0010092 biolink:NamedThing Triangular shaped proximal phalanx of the hallux hp0009lx5z Triangular shaped innermost bone of big toe doelkens 2009-05-29T12:17:16Z UMLS:C4024055 human_phenotype owl:Class HP:0010052 biolink:NamedThing Abnormal morphology of the proximal phalanx of the hallux An abnormal shape or form of the proximal phalanx of the big toe. hp0009lx5z Abnormal innermost big toe bone|Abnormality of the proximal phalanx of the hallux In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. doelkens 2009-05-29T11:47:46Z UMLS:C4024084 human_phenotype owl:Class HP:0030410 biolink:NamedThing Sebaceous gland carcinoma A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance) hp0009lx5z Sebaceous carcinoma SNOMEDCT_US:307599002|SNOMEDCT_US:54734006|MSH:D018266|UMLS:C0206684 owl:Class HP:0012842 biolink:NamedThing Skin appendage neoplasm A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. hp0009lx5z Skin adnexal neoplasm|Skin adnexal tumour|Skin adnexal tumor peter 2014-06-06T08:02:51Z SNOMEDCT_US:126489007|NCIT:C3262|SNOMEDCT_US:55681005|UMLS:C0345988 human_phenotype owl:Class HP:0008117 biolink:NamedThing Shortening of the talar neck hp0009lx5z UMLS:C1843985 human_phenotype owl:Class HP:0008365 biolink:NamedThing Abnormal talus morphology An abnormality of the talus. hp0009lx5z Abnormal large bone of ankle peter 2008-04-04T11:43:00Z UMLS:C4024688 owl:Class HP:0009731 biolink:NamedThing Cerebral hamartoma The presence of a hamartoma of the cerebrum. hp0009lx5z Cerebral hamartomata Hamartomatous lesions (benign focal lesions composed of disorganized tissue elements) affecting and sometimes originating from the cerebrum. peter 2009-01-31T11:02:09Z UMLS:C4024218 human_phenotype owl:Class HP:0100835 biolink:NamedThing Benign neoplasm of the central nervous system hp0009lx5z Benign neoplasm of the CNS doelkens 2011-06-09T06:08:47Z SNOMEDCT_US:92048008|UMLS:C0347509 human_phenotype owl:Class HP:0009882 biolink:NamedThing Short distal phalanx of finger Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. hp0009lx5z Hypoplasia of the distal phalanges of the hand|Terminal phalangeal hypoplasia of hand|Distal phalangeal hypoplasia|Short distal phalanges|Hypoplasic terminal phalanges|Hypoplasia of the distal phalanges|Hypoplastic terminal phalanges|Short outermost finger bone|Brachytelophalangy|Hypoplastic distal phalanges This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint. doelkens 2009-04-24T04:29:30Z HP:0001229|HP:0006076|HP:0006132|HP:0001198|HP:0005669|HP:0001202|HP:0006223|HP:0001221|HP:0006199|HP:0006075 UMLS:C1839829 human_phenotype owl:Class HP:0009835 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanges of the hand Absence or underdevelopment of the distal phalanges. hp0009lx5z Absent/underdeveloped outermost finger bone of the hand|Hypoplastic/aplastic distal phalanx|Aplastic/hypoplastic distal phalanges|Hypoplastic to absent terminal phalanges|Aplasia/Hypoplasia of the distal phalanges|Absent/hypoplastic distal phalanges|Absent/small outermost finger bone of the hand|Hypoplastic/aplastic distal phalanges|Small or absent distal phalanges doelkens 2009-03-11T12:10:11Z HP:0006037|HP:0006235|HP:0006066|HP:0005635 UMLS:C1861336 human_phenotype owl:Class HP:0032159 biolink:NamedThing Fungal meningitis An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis. hp0009lx5z 2018-12-09 12:21:08+00:00 peter owl:Class HP:0001287 biolink:NamedThing Meningitis Inflammation of the meninges. hp0009lx5z SNOMEDCT_US:7180009|MSH:D008581|UMLS:C0025289 human_phenotype owl:Class HP:0002046 biolink:NamedThing Heat intolerance The inability to maintain a comfortable body temperature in warm or hot weather. hp0009lx5z Heat intolerance|Intolerance to heat and fevers Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis. UMLS:C0231274|SNOMEDCT_US:69215007 owl:Class HP:0004370 biolink:NamedThing Abnormality of temperature regulation An abnormality of temperature homeostasis. hp0009lx5z Poor temperature regulation|Abnormality of temperature regulation|Body temperature changes peter 2008-03-18T06:34:00Z MSH:D001832|UMLS:C1832160|UMLS:C0005904 human_phenotype owl:Class HP:0100078 biolink:NamedThing Bracket epiphyses of the 5th toe hp0009lx5z Bracket shaped end part of little toe bone|Bracket shaped end part of pinkie toe bone|Bracket shaped end part of pinky toe bone doelkens 2010-06-24T10:00:02Z UMLS:C4022343 human_phenotype owl:Class HP:0010163 biolink:NamedThing Bracket epiphyses of the toes hp0009lx5z Bracket shaped end part of the toe bones doelkens 2009-05-29T01:34:06Z UMLS:C4023996 human_phenotype owl:Class HP:0009316 biolink:NamedThing Abnormal 3rd finger phalanx morphology Abnormality of the phalanges of the 3rd (middle) finger. hp0009lx5z Abnormality of the middle finger bones|Abnormality of 3rd finger phalanges|Abnormality of the phalanges of the 3rd finger|Abnormality of middle finger phalanges doelkens 2009-01-12T11:00:24Z HP:0004155 UMLS:C4021494 human_phenotype owl:Class HP:0033147 biolink:NamedThing Abnormal circulating short-chain fatty-acid concentration Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation. hp0009lx5z 2020-09-19 11:37:22+00:00 A short-chain fatty acid is defined as n aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid. peter owl:Class HP:0004359 biolink:NamedThing Abnormal circulating fatty-acid concentration A deviation from the normal concentration of a fatty acid in the blood circulation. hp0009lx5z Abnormality of fatty acid metabolism|Fatty acids abnormal A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids. peter 2008-03-17T03:28:00Z UMLS:C4021656|UMLS:C4020830 owl:Class HP:0004420 biolink:NamedThing Arterial thrombosis The formation of a blood clot inside an artery. hp0009lx5z Blood clot in artery peter 2008-03-18T09:32:00Z SNOMEDCT_US:65198009|UMLS:C0151942 human_phenotype owl:Class HP:0001977 biolink:NamedThing Abnormal thrombosis Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). hp0009lx5z Abnormal blood clot|Abnormal blood clotting UMLS:C4025731 human_phenotype owl:Class HP:0005336 biolink:NamedThing Forehead hyperpigmentation hp0009lx5z Darkening of the forehead UMLS:C1969673 human_phenotype owl:Class HP:0007400 biolink:NamedThing Irregular hyperpigmentation hp0009lx5z UMLS:C1860236 human_phenotype owl:Class HP:0012865 biolink:NamedThing Abnormal sperm head morphology A structural abnormality of the sperm head. hp0009lx5z Sperm head anomaly hecht 2014-06-09T10:48:21Z UMLS:C4022702 owl:Class HP:0012864 biolink:NamedThing Abnormal sperm morphology A structural anomaly of sperm. hp0009lx5z Abnormal shape of sperm|Teratospermia|Teratozoospermia hecht 2014-06-09T10:07:03Z SNOMEDCT_US:236817003|MSH:D000072660|UMLS:C0403824 human_phenotype owl:Class HP:0032669 biolink:NamedThing Myoclonic status epilepticus with coma A type of myoclonic status epilepticus in the presence of coma. hp0009lx5z peter owl:Class HP:0032667 biolink:NamedThing Myoclonic status epilepticus A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography. hp0009lx5z The myoclonic seizures are usually generalized. The duration or frequency of myoclonic jerks required to qualify as myoclonic status is not defined, but they should occur frequently and long enough to significantly impair functioning. A reasonable general definition might be that myoclonus must occur either (1) at least once every 10 seconds for longer than 10 minutes or (2) at least once a minute for longer than 30 minutes. peter owl:Class HP:0032878 biolink:NamedThing Focal impaired awareness sensory seizure with cephalic sensation A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0032787 biolink:NamedThing Focal impaired awareness sensory seizure A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0040134 biolink:NamedThing Abnormal hepatic iron concentration hp0009lx5z Abnormal liver iron concentration|Abnormal liver iron level HPO:skoehler UMLS:C4022420 owl:Class HP:0032243 biolink:NamedThing Abnormal tissue metabolite concentration Any deviation from the normal concentration of a metabolite in a tissue. hp0009lx5z 2019-01-27 11:56:39+00:00 peter owl:Class HP:0012017 biolink:NamedThing EEG with parietal focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region. hp0009lx5z hecht 2012-07-20T12:02:43Z UMLS:C4023074 human_phenotype owl:Class HP:0011193 biolink:NamedThing EEG with focal spikes EEG with focal sharp transient waves of a duration less than 80 msec. hp0009lx5z hecht 2011-11-19T10:50:36Z UMLS:C4023481 human_phenotype owl:Class HP:0010405 biolink:NamedThing Broad middle phalanx of the 2nd toe hp0009lx5z Broad middle bone of 2nd toe doelkens 2009-07-16T12:43:52Z UMLS:C4023850 human_phenotype owl:Class HP:0010348 biolink:NamedThing Broad phalanges of the 2nd toe hp0009lx5z Broad bones of the 2nd toe doelkens 2009-07-16T11:45:34Z UMLS:C4023889 human_phenotype owl:Class HP:0003957 biolink:NamedThing Cortical thickening of the forearm bones hp0009lx5z UMLS:C4021842 human_phenotype owl:Class HP:0040072 biolink:NamedThing Abnormality of forearm bone hp0009lx5z Abnormality of forearm bone HPO:skoehler UMLS:C4022452 owl:Class HP:0000995 biolink:NamedThing Melanocytic nevus A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. hp0009lx5z Melanocytic naevus|Pigmented nevi|Beauty mark|Noncancerous mole|Nevocellular nevi|Pigmented naevi|Melanocytic nevi Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime. SNOMEDCT_US:400096001|SNOMEDCT_US:21119008|MSH:D009508|UMLS:C0027962|UMLS:C4280269 human_phenotype owl:Class HP:0003764 biolink:NamedThing Nevus A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. hp0009lx5z Mole|Nevi|Naevi|Naevus The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole. UMLS:C0027962|SNOMEDCT_US:400096001|SNOMEDCT_US:21119008|SNOMEDCT_US:51697005|MSH:D009506|MSH:D009508|UMLS:C0027960 human_phenotype owl:Class HP:0009434 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 3rd finger Uneven (irregular) increase in bone density of the middle phalanx of the third finger. hp0009lx5z Uneven increase in bone density in the middle bone of the middle finger doelkens 2009-01-14T03:41:31Z UMLS:C4024364 human_phenotype owl:Class HP:0009444 biolink:NamedThing Patchy sclerosis of 3rd finger phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger. hp0009lx5z Uneven increase in bone density in middle finger bone|Patchy sclerosis of middle finger phalanges|Patchy sclerosis of the phalanges of the 3rd finger doelkens 2009-01-14T04:09:01Z HP:0004160 UMLS:C4021471 human_phenotype owl:Class HP:0009381 biolink:NamedThing Short finger Abnormally short finger associated with developmental hypoplasia. hp0009lx5z Stubby finger|Hypoplastic/small fingers|Short finger|Stubby fingers|Hypoplastic digits|Hypoplastic fingers doelkens 2009-01-13T01:07:38Z HP:0006015|HP:0004098 UMLS:C1844548|SNOMEDCT_US:249765007|UMLS:C0239594 human_phenotype owl:Class HP:0006265 biolink:NamedThing Aplasia/Hypoplasia of fingers Small/hypoplastic or absent/aplastic fingers. hp0009lx5z Absent/small fingers|Absent/underdeveloped fingers peter 2008-03-28T03:09:00Z UMLS:C4025071 human_phenotype owl:Class HP:0033382 biolink:NamedThing Elevated circulating palmitoylcarnitine concentration Abnormally increased concentration of palmitoylcarnitine in the blood circulation. hp0009lx5z 2020-12-23 15:05:50+00:00 Palmitoylcarnitine (CHEBI:73067) is also known as O-palmitoylcarnitine and O-hexadecanoylcarnitine. peter owl:Class HP:0012071 biolink:NamedThing Abnormal circulating acetylcarnitine concentration Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. hp0009lx5z Abnormal circulating esterified carnitine concentration|Abnormal acetylcarnitine profile Carnitine fundergoes reversible esterification of its 3-hydroxyl group producing acylcarnitine, which can enter the mitochondria with the assistance of specific translocases. hecht 2012-08-11T09:03:41Z UMLS:C4023058|UMLS:C4020733 owl:Class HP:0010708 biolink:NamedThing 1-5 finger syndactyly Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand). hp0009lx5z Webbed 1st-5th fingers|Webbed 1-5 fingers sdoelken 2010-03-26T05:12:44Z UMLS:C4023728 human_phenotype owl:Class HP:0011888 biolink:NamedThing Bleeding requiring red cell transfusion Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4). hp0009lx5z Bleeding requiring red cell transfusion peter 2012-06-02T11:31:44Z UMLS:C4023144 human_phenotype owl:Class HP:0011312 biolink:NamedThing Fused nails A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature. hp0009lx5z Fused nails The use of the word "fused" is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately. hecht 2012-02-12T01:12:22Z UMLS:C4023419 human_phenotype owl:Class HP:0003460 biolink:NamedThing Decreased circulating total IgA Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). hp0009lx5z Total immunoglobulin A deficiency|Decreased total IgA in blood UMLS:C4025611 human_phenotype owl:Class HP:0002720 biolink:NamedThing Decreased circulating IgA level Decreased levels of immunoglobulin A (IgA). hp0009lx5z Reduced IgA levels|Gamma-A globulin deficiency|Decreased IgA|IgA deficiency|Decreased immunoglobulin A|Low levels of immunoglobulin A HP:0005431|HP:0008350|HP:0005358|HP:0005399 MSH:D017098|SNOMEDCT_US:29260007|UMLS:C0162538 human_phenotype owl:Class HP:0030714 biolink:NamedThing Subchorionic thrombohematoma A large maternal clot that separates the chorionic plate from the villous chorion. hp0009lx5z Breus' mole UMLS:C1390676 owl:Class HP:0100767 biolink:NamedThing Abnormal placenta morphology An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. hp0009lx5z Abnormality of the placenta|Placental issue The placenta is a fetomaternal organ. The fetal portion of the placenta is the villous chorion and the maternal portion is the decidua basalis. The two portions are connected by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. doelkens 2011-06-07T11:03:03Z UMLS:C1306893|SNOMEDCT_US:33552005|SNOMEDCT_US:169957005 owl:Class HP:0032127 biolink:NamedThing Abnormal plasmablast proportion A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination. hp0009lx5z 2018-11-22 12:59:19+00:00 Differentiation of B cells into plasmablasts (PB) is most commonly monitored with surface markers CD19, CD20, CD27, CD38, and CD138 and intracellular marker Ki-67. peter owl:Class HP:0025539 biolink:NamedThing Abnormal B cell subset distribution hp0009lx5z 2017-06-12 15:24:43+00:00 HPO:probinson owl:Class HP:0000980 biolink:NamedThing Pallor Abnormally pale skin. hp0009lx5z Skin paleness|Paleness SNOMEDCT_US:398979000|MSH:D010167|UMLS:C0030232 human_phenotype owl:Class HP:0011121 biolink:NamedThing Abnormality of skin morphology Any morphological abnormality of the skin. hp0009lx5z Abnormal skin morphology|Abnormal skin structure peter 2011-06-12T10:03:23Z Fyler:4133|UMLS:C4023528 human_phenotype owl:Class HP:0011602 biolink:NamedThing Midline direction of ventricular apex Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal. hp0009lx5z peter 2012-04-08T02:47:52Z UMLS:C4023273 human_phenotype owl:Class HP:0011600 biolink:NamedThing Abnormal direction of ventricular apex Abnormal plane of direction of the heart from the base to the apex. Left sided is normal. hp0009lx5z peter 2012-04-08T02:44:41Z UMLS:C4023275 owl:Class HP:0003110 biolink:NamedThing Abnormality of urine homeostasis An abnormality of the composition of urine or the levels of its components. hp0009lx5z Pee issues|Urine issues HP:0011866|HP:0011865 UMLS:C4025655 owl:Class HP:0032238 biolink:NamedThing Increased circulating metamyelocyte count An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1. hp0009lx5z 2019-01-26 17:27:06+00:00 peter owl:Class HP:0032236 biolink:NamedThing Increased circulating immature neutrophil count An abnormally increased number of immature neutrophils in the peripheral blood circulation. hp0009lx5z 2019-01-26 17:21:30+00:00 Various forms of immature neutrophils appear during granulopoiesis in the bone marrow. A seven day mitotic stage (myeloblast to promyelocyte to myelocyte) is followed by a seven day maturation stage (myelocyte to metamyelocyte to band cell to mature segmented neutrophil). Mature neutrophils are normally held in storage pools in the bone marrow before their entry into the circulation. peter owl:Class HP:0012288 biolink:NamedThing Neoplasm of head and neck A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. hp0009lx5z Head and neck tumour|Head and neck tumor|Head and neck cancer peter 2013-04-11T05:44:24Z UMLS:C0018671|MSH:D006258|UMLS:C0278996|SNOMEDCT_US:255055008|SNOMEDCT_US:255056009 human_phenotype owl:Class HP:0012599 biolink:NamedThing Abnormal urine phosphate concentration An abnormal phosphate concentration in the urine. hp0009lx5z peter 2014-01-16T06:14:49Z UMLS:C4022828 owl:Class HP:0031919 biolink:NamedThing Juvenile type ovarian granulosa cell tumor Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type. hp0009lx5z Juvenile type ovarian granulosa cell tumour|Ovarian juvenile granulosa cell tumor|Ovarian juvenile granulosa cell tumour 2018-07-02 10:52:27+00:00 peter owl:Class HP:0031918 biolink:NamedThing Ovarian sex cord-stromal tumor A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. hp0009lx5z Ovarian sex cord-stromal tumour 2018-07-02 10:46:29+00:00 peter owl:Class HP:0010948 biolink:NamedThing Abnormality of the fetal cardiovascular system An abnormality of the fetal circulation system or fetal echocardiogram. hp0009lx5z Abnormality of the foetal circulation system|Abnormality of the fetal circulation system|Abnormality of the foetal cardiovascular system peter 2011-01-16T03:53:44Z UMLS:C4021210 human_phenotype owl:Class HP:0001626 biolink:NamedThing Abnormality of the cardiovascular system Any abnormality of the cardiovascular system. hp0009lx5z Cardiovascular abnormality|Cardiovascular disease|Abnormality of the cardiovascular system The cardiovascular system consists of the heart, vasculature, and the lymphatic system. SNOMEDCT_US:49601007|UMLS:C0243050|UMLS:C0007222|MSH:D018376|MSH:D002318 owl:Class HP:0033923 biolink:NamedThing Renal arteriole foam cell endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. hp0009lx5z Endoarterial hypercellularity within arterioles consisting of foam cells 2021-06-24 01:02:44+00:00 peter owl:Class HP:0033922 biolink:NamedThing Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). hp0009lx5z 2021-06-24 01:00:27+00:00 peter owl:Class HP:0001646 biolink:NamedThing Abnormal aortic valve morphology Any abnormality of the aortic valve. hp0009lx5z Abnormality of the aortic valve SNOMEDCT_US:448743001|Fyler:1408|Fyler:1400|UMLS:C3164445 human_phenotype owl:Class HP:0001654 biolink:NamedThing Abnormal heart valve morphology Any structural abnormality of a cardiac valve. hp0009lx5z Valvular abnormality|Abnormality of the heart valves|Valvular heart disease HP:0001703 UMLS:C0018824|SNOMEDCT_US:368009|UMLS:C0241654|MSH:D006349 owl:Class HP:0030092 biolink:NamedThing Reduced muscle fiber merosin A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. hp0009lx5z Reduced muscle fibre merosin UMLS:C4022651 owl:Class HP:0030090 biolink:NamedThing Abnormal muscle fiber merosin expression An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve. hp0009lx5z Abnormal muscle fibre merosin expression UMLS:C4022652 owl:Class HP:0012737 biolink:NamedThing Small intestinal polyp A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. hp0009lx5z peter 2014-03-23T03:50:25Z UMLS:C1302645|SNOMEDCT_US:399723004 human_phenotype owl:Class HP:0005266 biolink:NamedThing Intestinal polyp A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. hp0009lx5z Intestinal polyps peter 2008-03-26T04:46:00Z SNOMEDCT_US:254588001|MSH:D007417|UMLS:C0021846 human_phenotype owl:Class HP:0100197 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 4th toe hp0009lx5z Increased bone density of end part of the innermost bone of the 4th toe doelkens 2010-06-24T04:54:59Z UMLS:C4022224 human_phenotype owl:Class HP:0100072 biolink:NamedThing Ivory epiphyses of the 4th toe Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. hp0009lx5z Increased bone density of end part of the 4th toe bone doelkens 2010-06-24T09:59:30Z UMLS:C4022349 human_phenotype owl:Class HP:0000012 biolink:NamedThing Urinary urgency Urge incontinence is the strong, sudden need to urinate. hp0009lx5z Urgency frequency syndrome|Overactive bladder|Overactive bladder syndrome|Urinary urgency Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. SNOMEDCT_US:75088002|UMLS:C0085606|UMLS:C3544092|UMLS:C4020898 human_phenotype owl:Class HP:0000009 biolink:NamedThing Functional abnormality of the bladder Dysfunction of the urinary bladder. hp0009lx5z Poor bladder function HP:0004424|HP:0008731 UMLS:C3806583 human_phenotype owl:Class HP:0100924 biolink:NamedThing Sclerosis of toe phalanx An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Sclerosis of the phalanges of the toes|Increased bone density in the toe bone doelkens 2011-12-02T11:08:43Z UMLS:C4020932 human_phenotype owl:Class HP:0004831 biolink:NamedThing Recurrent thromboembolism Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream. hp0009lx5z Recurrent thromboembolic disease UMLS:C4025286|UMLS:C0749398 human_phenotype owl:Class HP:0001907 biolink:NamedThing Thromboembolism The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. hp0009lx5z Thromboembolic disease|Embolism and thrombosis|Thromboembolic events|Blood clot in blood vessel SNOMEDCT_US:13713005|SNOMEDCT_US:371039008|UMLS:C0040038|MSH:D016769|MSH:D013923|UMLS:C0085307 owl:Class HP:0012431 biolink:NamedThing Episodic fatigue Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation. hp0009lx5z peter 2013-11-13T07:45:40Z UMLS:C4022907 owl:Class HP:0012378 biolink:NamedThing Fatigue A subjective feeling of tiredness characterized by a lack of energy and motivation. hp0009lx5z Fatigue|Tiredness|Tired Fatigue is distinct from muscle weakness. peter 2013-10-15T08:52:04Z MSH:D005221|SNOMEDCT_US:248274002|UMLS:C0015672|SNOMEDCT_US:84229001 owl:Class HP:0009486 biolink:NamedThing Radial deviation of the hand An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). hp0009lx5z Radial deviation of hands doelkens 2009-01-15T10:51:21Z HP:0001203 SNOMEDCT_US:299035006|UMLS:C0575803 human_phenotype owl:Class HP:0009485 biolink:NamedThing Radial deviation of the hand or of fingers of the hand hp0009lx5z doelkens 2009-01-15T10:49:51Z UMLS:C4024337 human_phenotype owl:Class HP:0031386 biolink:NamedThing Increased micromegakaryocyte count The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter. hp0009lx5z 2017-09-02 16:35:34+00:00 Micromegakaryocytes are characteristic of myelodysplastic syndromebut may be seen in other conditions. peter owl:Class HP:0012143 biolink:NamedThing Abnormal megakaryocyte morphology Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. hp0009lx5z Abnormality of cells of the megakaryocyte lineage peter 2012-09-16T08:20:38Z UMLS:C4023026 human_phenotype owl:Class HP:0032316 biolink:NamedThing Family history Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins. hp0009lx5z 2019-02-14 11:40:50+00:00 This subontology is intended to help record summary information about family members if only a limited amount of information is available or required. peter owl:Class HP:0032443 biolink:NamedThing Past medical history In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc. hp0009lx5z 2019-03-03 16:39:26+00:00 This subontology of the HPO is not intended to provide all needed terms to describe the past medical history, but rather to be combined with other ontologies such as MONDO in order to capture information that is often needed to properly assess phenotypic findings related to a presenting medical problem. peter owl:Class HP:0004814 biolink:NamedThing Fava bean-induced hemolytic anemia A kind of hemolytic anemia that is induced by the ingestion of fava beans. hp0009lx5z Fava bean-induced hemolytic anaemia|Hemolytic anaemia following ingestion of fava beans|Hemolytic anemia following ingestion of fava beans Persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to fava bean-induced hemolytic anemia because of the oxidative stress induced by compunds in Fava beans (thought to be vicine and isouramil). The same underlying defect can make affected persons susceptible to hemolysis induced by a number of mediciations. UMLS:C4021648 human_phenotype owl:Class HP:0001878 biolink:NamedThing Hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis). hp0009lx5z Haemolytic anaemia|Increased hemolysis|Hemolytic anaemia Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. HP:0004853|HP:0001910|HP:0004868|HP:0004827|HP:0005503 UMLS:C0002878|MSH:D000743|SNOMEDCT_US:61261009 human_phenotype owl:Class HP:0410326 biolink:NamedThing Feather allergy Hypersensitivity in form of an adverse immune reaction against feathers. hp0009lx5z Immunoglobulin E-mediated feather allergy|Allergy to feathers|Feather allergy|IgE-mediated feather allergy owl:Class HP:0012393 biolink:NamedThing Allergy An allergy is an immune response or reaction to substances that are usually not harmful. hp0009lx5z Allergy peter 2013-11-07T07:47:22Z SNOMEDCT_US:419076005|UMLS:C1527304|MSH:D006967 owl:Class HP:0008116 biolink:NamedThing Flexion limitation of toes Limitation of the ability to bend the toes. hp0009lx5z UMLS:C4024731 human_phenotype owl:Class HP:0001436 biolink:NamedThing Abnormality of the foot musculature An anomaly of the musculature of foot. hp0009lx5z Abnormal foot muscles peter 2008-04-07T10:21:00Z UMLS:C4025785 human_phenotype owl:Class HP:0100900 biolink:NamedThing Sclerosis of the distal phalanx of the 2nd finger hp0009lx5z Increased bone density in the outermost bone of the index finger UMLS:C4021942 human_phenotype owl:Class HP:0100918 biolink:NamedThing Sclerosis of 2nd finger phalanx An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in 2nd finger bone|Sclerosis of the phalanges of the 2nd finger UMLS:C4020937 human_phenotype owl:Class HP:0006375 biolink:NamedThing Dumbbell-shaped femur The femur is shortened and displays flaring (widening) of the metaphyses. hp0009lx5z Dumbbell-shaped thighbone UMLS:C4025052 owl:Class HP:0002823 biolink:NamedThing Abnormality of femur morphology Any anomaly of the structure of the femur. hp0009lx5z Abnormality of the thighbone|Abnormality of the femora The femur (plural: femora) is the thigh bone. HP:0001439 UMLS:C4021750 human_phenotype owl:Class HP:0025604 biolink:NamedThing Orbital schwannoma A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit. hp0009lx5z 2018-01-13 22:31:31+00:00 HPO:probinson owl:Class HP:0100012 biolink:NamedThing Neoplasm of the eye A tumor (abnormal growth of tissue) of the eye. hp0009lx5z Eye tumour|Eye tumor|Neoplasia of the eye doelkens 2010-05-14T09:43:34Z MSH:D005134|UMLS:C0015414|NCIT:C3262|SNOMEDCT_US:371486001 human_phenotype owl:Class HP:0009327 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 3rd finger Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the middle bone of the middle finger doelkens 2009-01-12T11:15:44Z UMLS:C4024438 human_phenotype owl:Class HP:0009416 biolink:NamedThing Ivory epiphyses of the 3rd finger Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the middle finger bone doelkens 2009-01-14T02:01:59Z UMLS:C4024377 human_phenotype owl:Class HP:0030001 biolink:NamedThing Lagopthalmos A condition in which the eyelids do not close to cover the eye completely. hp0009lx5z Inability to close the eyelids|Eyelids stay open Some common causes of lagophthalmos are Bell's palsy and other types of facial paralysis, stroke, infection, and trauma. The inability to blink and effectively close the eyes leads to corneal exposure and excessive evaporation of the tear film. The main purpose when treating lagophthalmos is to prevent exposure keratitis and reestablish eyelid function. UMLS:C4022680 human_phenotype owl:Class HP:0000492 biolink:NamedThing Abnormal eyelid morphology An abnormality of the eyelids. hp0009lx5z Abnormality of the eyelids|Abnormality of the eyelid HP:0000285 UMLS:C4021803 human_phenotype owl:Class HP:0010341 biolink:NamedThing Abnormality of the epiphyses of the 5th toe hp0009lx5z Abnormality of the end part of the little toe bone|Abnormality of the end part of the pinkie toe bone|Abnormality of the end part of the pinky toe bone doelkens 2009-07-16T11:41:49Z UMLS:C4023893 human_phenotype owl:Class HP:0009813 biolink:NamedThing Upper limb phocomelia Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). hp0009lx5z doelkens 2009-02-23T05:06:12Z UMLS:C0265573|SNOMEDCT_US:253926000 human_phenotype owl:Class HP:0006234 biolink:NamedThing Osteolysis involving tarsal bones An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. hp0009lx5z Tarsal bone osteolysis|Tarsal osteolysis peter 2008-04-17T02:39:00Z HP:0001858 UMLS:C1833735 human_phenotype owl:Class HP:0001850 biolink:NamedThing Abnormality of the tarsal bones An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. hp0009lx5z Abnormal ankle bones|Abnormal tarsals UMLS:C1862136 human_phenotype owl:Class HP:0025270 biolink:NamedThing Abnormality of esophagus physiology Any physiological abnormality of the esophagus. hp0009lx5z Functional abnormality of the esophagus|Abnormality of oesophagus physiology|Functional abnormality of the oesophagus 2016-12-18 13:39:06+00:00 HPO:probinson owl:Class HP:0012719 biolink:NamedThing Functional abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. hp0009lx5z Functional abnormality of the GI tract|GI dysfunction peter 2014-03-23T01:10:47Z UMLS:C4022755 human_phenotype owl:Class HP:0032346 biolink:NamedThing Cutaneous lichen amyloidosis Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs. hp0009lx5z 2019-02-23 16:20:56+00:00 Lichen amyloidosis is mostly associated with severe pruritus. It is a keratin-derived amyloidosis, in which cytokeratins serve as amyloid precursors, affecting only the dermis. Histological findings are grouped colloid bodies, which correspond to apoptotic basal keratinocytes. peter owl:Class HP:0012309 biolink:NamedThing Cutaneous amyloidosis The presence of amyloid deposition in the superficial dermis. hp0009lx5z peter 2013-08-10T11:59:57Z SNOMEDCT_US:201337008|SNOMEDCT_US:282834007|SNOMEDCT_US:718105008|UMLS:C0268397|MSH:C562642|SNOMEDCT_US:281882003 human_phenotype owl:Class HP:0030312 biolink:NamedThing Obliteration of the calvarial diploe Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe). hp0009lx5z Obliteration of cranial cancellous bone UMLS:C1860855 owl:Class HP:0002648 biolink:NamedThing Abnormality of calvarial morphology The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. hp0009lx5z Abnormality of the shape of skull bones|Abnormality of the shape of cranium|Abnormality of skull bone morphology|Abnormally shaped skull|Abnormal cranium morphology|Abnormality of cranial bone morphology|Abnormality of the shape of calvarium UMLS:C4280260|UMLS:C4025692 human_phenotype owl:Class HP:0410262 biolink:NamedThing Lower cranial nerve dysfunction A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves. hp0009lx5z Abnormal lower cranial nerve function 2018-10-19 22:03:52+00:00 owl:Class HP:0031910 biolink:NamedThing Abnormal cranial nerve physiology A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. hp0009lx5z 2018-06-23 13:49:43+00:00 peter owl:Class HP:0030849 biolink:NamedThing Hepatojugular reflux The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux. hp0009lx5z SNOMEDCT_US:72196001|UMLS:C0239949 owl:Class HP:0030847 biolink:NamedThing Abnormal jugular venous pressure An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure. hp0009lx5z UMLS:C0520860|SNOMEDCT_US:62436006 owl:Class HP:0005807 biolink:NamedThing Absent distal phalanges Aplasia (absence) of the distal phalanges. hp0009lx5z Absent outermost digital bones UMLS:C1861339 human_phenotype owl:Class HP:0001658 biolink:NamedThing Myocardial infarction Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. hp0009lx5z MI|Heart attack SNOMEDCT_US:22298006|UMLS:C0027051|MSH:D009203 owl:Class HP:0033678 biolink:NamedThing Acute coronary syndrome The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI). hp0009lx5z 2021-03-03 20:22:24+00:00 A diagnosis of NSTEMI can be made when the ischemia is sufficiently severe to cause myocardial damage that results in the release of a biomarker of myocardial necrosis into the circulation (cardiac-specific troponins T or I, or muscle and brain fraction of creatine kinase [CK-MB]). In contrast, the patient is considered to have experienced UA if no such biomarker can be detected in the bloodstream hours after the initial onset of ischemic chest pain. Unstable angina exhibits 1 or more of 3 principal presentations: (1) rest angina (usually lasting >20 minutes), (2) new-onset (<2 months previously) severe angina, and (3) a crescendo pattern of occurrence (increasing in intensity, duration, frequency, or any combination of these factors). peter owl:Class HP:0011931 biolink:NamedThing Abnormal cerebellar peduncle morphology An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. hp0009lx5z Abnormality of the cerebellar peduncle peter 2012-06-10T01:02:57Z UMLS:C4023121 owl:Class HP:0012501 biolink:NamedThing Abnormality of the brainstem white matter An anomaly of the white matter of brainstem. hp0009lx5z peter 2013-11-30T09:19:46Z UMLS:C4022876 human_phenotype owl:Class HP:0031185 biolink:NamedThing Increased circulating NT-proBNP concentration An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP). hp0009lx5z Increased NT-proBNP level 2017-06-21 10:30:21+00:00 peter owl:Class HP:0031138 biolink:NamedThing Abnormal B-type natriuretic peptide level A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). hp0009lx5z 2017-06-10 18:39:37+00:00 Increased plasma levels of circulating natriuretic peptides (NP) have been described in patients with congestive heart failure and are directly proportional to the severity of congestive heart failure as classified by the New York Heart Association criteria. peter owl:Class HP:0004789 biolink:NamedThing Lactose intolerance An inability to digest lactose. hp0009lx5z Milk intolerance|Lactose intolerance SNOMEDCT_US:700094005|MSH:D007787|SNOMEDCT_US:267425008|UMLS:C0022951 human_phenotype owl:Class HP:0002024 biolink:NamedThing Malabsorption Impaired ability to absorb one or more nutrients from the intestine. hp0009lx5z Intestinal malabsorption|Malabsorption HP:0008270 UMLS:C3714745 human_phenotype owl:Class HP:0033302 biolink:NamedThing Elevated circulating 4-hydroxyphenylacetic acid concentration An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation. hp0009lx5z 2020-11-28 22:03:02+00:00 4-hydroxyphenlyllactic acid is a human metabolite that derives from an acetic acid. peter owl:Class HP:0010996 biolink:NamedThing Abnormal circulating monocarboxylic acid cocentration Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation. hp0009lx5z peter 2011-02-10T02:20:42Z UMLS:C4023605 owl:Class HP:0000325 biolink:NamedThing Triangular face Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. hp0009lx5z Triangular facies|Face with broad temples and narrow chin|Triangular facial shape|Triangular face HP:0004668|HP:0004645|HP:0004662 UMLS:C1835884 human_phenotype owl:Class HP:0001999 biolink:NamedThing Abnormal facial shape An abnormal morphology (form) of the face or its components. hp0009lx5z Malformation of face|Dysmorphic facial features|Abnormal facial shape|Abnormal morphology of the face|Distortion of face|Deformity of face|Dysmorphic facies|Unusual facial appearance|Facial dysmorphism|Distinctive facies|Funny looking face|Unusual facies This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. HP:0002260|HP:0004649|HP:0002004|HP:0004652|HP:0004643|HP:0004655|HP:0005124|HP:0004675 UMLS:C1385263|SNOMEDCT_US:32003007|UMLS:C4072832|SNOMEDCT_US:248200007|SNOMEDCT_US:398206004|UMLS:C0266617|SNOMEDCT_US:398302004|UMLS:C0424503|UMLS:C4072833 human_phenotype owl:Class HP:0010864 biolink:NamedThing Intellectual disability, severe Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. hp0009lx5z Intellectual disability, severe|Severe mental retardation|Early and severe mental retardation|Mental retardation, severe Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. peter 2010-08-03T06:29:35Z HP:0007196 UMLS:C0036857|SNOMEDCT_US:40700009 human_phenotype owl:Class HP:0001249 biolink:NamedThing Intellectual disability Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. hp0009lx5z Nonprogressive mental retardation|Low intelligence|Dull intelligence|Intellectual disability|Mental-retardation|Mental deficiency|Mental retardation|Nonprogressive intellectual disability|Poor school performance|Mental retardation, nonspecific This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). HP:0002386|HP:0001267|HP:0007180|HP:0001286|HP:0000730|HP:0002458|HP:0002382|HP:0002499|HP:0007154|HP:0002402|HP:0002122|HP:0002482|HP:0006877|HP:0003767|HP:0002316|HP:0002543|HP:0007176|HP:0002192|HP:0006833 UMLS:C1843367|UMLS:C0917816|MSH:D008607|SNOMEDCT_US:91138005|UMLS:C0423903|UMLS:C4020876|SNOMEDCT_US:247578003|SNOMEDCT_US:228156007|UMLS:C0025362|UMLS:C3714756 human_phenotype owl:Class HP:0100569 biolink:NamedThing Abnormally ossified vertebrae An abnormality of the formation and mineralization of one or more vertebrae. hp0009lx5z Abnormal vertebral ossification|Abnormal bone maturation of vertebra|Abnormality of ossification/mineralisation of vertebrae doelkens 2010-12-21T04:50:43Z UMLS:C4020966 human_phenotype owl:Class HP:0003468 biolink:NamedThing Abnormal vertebral morphology An abnormality of one or more of the vertebrae. hp0009lx5z Abnormality of the vertebrae|Abnormal vertebral bodies|Abnormal vertebrae|Vertebral anomalies|Multiple vertebral anomalies A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). HP:0005719 UMLS:C4020840|UMLS:C0158775|SNOMEDCT_US:74877002|SNOMEDCT_US:205043005|Fyler:4108|UMLS:C4020839 human_phenotype owl:Class HP:0033892 biolink:NamedThing Abnormal renal arteriole intima/media morphology Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. hp0009lx5z 2021-06-23 22:13:30+00:00 peter owl:Class HP:0033889 biolink:NamedThing Abnormal renal arteriole morphology Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. hp0009lx5z 2021-06-23 22:04:04+00:00 Renal blood flow originates at the hilum of the kidney through the renal artery. From the segmental artery to the interlobar artery, blood arrives parallel to the corticomedullary junction in the arcuate artery. This gives rise to the interlobular arteries that radiate toward the surface. Afferent arterioles branch off which ultimately leads into the glomerulus of Bowman's capsule. From here, efferent arterioles begin to form the venous system and subdivide into another set of capillaries known as the peritubular capillaries. Blood then leaves the kidney and enters the venous circulation. However, efferent arterioles that are located above the corticomedullary border travel downward into the medulla. They further divide into vasa recta which surround the Loop of Henle. peter owl:Class HP:0002298 biolink:NamedThing Absent hair hp0009lx5z Absent hair HP:0004548 SNOMEDCT_US:297991008|UMLS:C0574763 human_phenotype owl:Class HP:0011362 biolink:NamedThing Abnormal hair quantity An abnormal amount of hair. hp0009lx5z Abnormality of hair density|Abnormal hair quantity peter 2012-03-01T08:46:57Z HP:0011357|HP:0002115 UMLS:C4023401|UMLS:C4023397 owl:Class HP:0010053 biolink:NamedThing Abnormality of the distal phalanx of the hallux hp0009lx5z Abnormality of the outermost bone of the big toe doelkens 2009-05-29T11:49:11Z UMLS:C4024083 human_phenotype owl:Class HP:0010057 biolink:NamedThing Abnormality of the phalanges of the hallux hp0009lx5z Abnormal big toe bones doelkens 2009-05-29T12:00:08Z UMLS:C4024080 human_phenotype owl:Class HP:0030772 biolink:NamedThing Proximal femoral focal deficiency Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb. hp0009lx5z SNOMEDCT_US:205211001|UMLS:C0431996 owl:Class HP:0005613 biolink:NamedThing Aplasia/hypoplasia of the femur Absence or underdevelopment of the femur. hp0009lx5z Hypoplastic/aplastic femora|Hypoplastic to absent femora|Absent/underdeveloped thighbone|Absent/small thighbone HP:0006396|HP:0006425 UMLS:C1851310 human_phenotype owl:Class HP:0025175 biolink:NamedThing Honeycomb lung Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care. hp0009lx5z Honeycombing|Honeycomb cysts 2016-12-04 19:34:18+00:00 Pathologically, honeycombing is manifested as small air-containing cystic spaces that are lined by bronchiolar epithelium and have thickened walls of dense fibrous tissue. On high-resolution CT, honeycombing presents with a characteristic cystic appearance. The cystic spaces range from 3 mm to 1 cm in diameter, although they can be larger. The cystic spaces are characterized by well delineated walls 1 to 3 mm in thickness. The cysts are air-filled and appear lucent in comparison to normal lung parenchyma. Honeycombing is a manifestation of end-stage lung fibrosis. HPO:probinson owl:Class HP:0005948 biolink:NamedThing Multiple pulmonary cysts The presence of multiple lung cysts. hp0009lx5z Cystic lung disease|Multiple lung cysts Emphysematous changes sometimes can be mistaken for multifocal lung cysts. In contrast to true cysts, the cystlike lucencies caused by the destruction of lung parenchyma in emphy-sema do not have walls. Nevertheless, emphysema can be accompanied by multiple cysts, such as bullae, or in association with LCH. UMLS:C1384901|MSH:C563237 human_phenotype owl:Class HP:0009875 biolink:NamedThing Triangular shaped distal phalanges of the hand hp0009lx5z Triangular shaped outermost bone of the hand doelkens 2009-03-11T01:53:07Z HP:0006061|HP:0009842 UMLS:C4024176 human_phenotype owl:Class HP:0011932 biolink:NamedThing Abnormal superior cerebellar peduncle morphology An anomaly of the superior cerebellar peduncle. hp0009lx5z Abnormality of the superior cerebellar peduncle peter 2012-06-10T01:26:47Z UMLS:C4023120 human_phenotype owl:Class HP:0100219 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 5th toe hp0009lx5z Increased bone density of end part of the middle bone of the little toe|Increased bone density of end part of the middle bone of the pinky toe|Increased bone density of end part of the middle bone of the pinkie toe doelkens 2010-06-24T05:04:00Z UMLS:C4022202 human_phenotype owl:Class HP:0100098 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 5th toe hp0009lx5z Abnormality of the end part of the middle bone of the pinkie toe|Abnormality of the end part of the middle bone of the little toe|Abnormality of the end part of the middle bone of the pinky toe doelkens 2010-06-24T10:02:41Z UMLS:C4022323 human_phenotype owl:Class HP:0033574 biolink:NamedThing Anti-H3 antibody positivity The presence of autoantibodies in the blood circulation that react against histone H3. hp0009lx5z 2021-01-24 13:56:48+00:00 peter owl:Class HP:0033558 biolink:NamedThing Anti-histone antibody positivity The presence of autoantibodies in the blood circulation that react against histone antigens. hp0009lx5z 2021-01-23 12:10:03+00:00 Anti-histone antibodies are found in the serum of up to 75-95% of people with drug-induced lupus and 75% of idiopathic SLE and less frequently in scleroderma, rheumatoid arthritis and undifferentiated connective tissue disease. peter owl:Class HP:0100155 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe. hp0009lx5z Speckled calcifications in the end part of the middle bone of the 3rd toe doelkens 2010-06-24T10:24:13Z UMLS:C4022266 human_phenotype owl:Class HP:0030121 biolink:NamedThing Reduced muscle fiber calpain-3 Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue. hp0009lx5z Reduced muscle fibre calpain-3 UMLS:C4022624 owl:Class HP:0030119 biolink:NamedThing Abnormal muscle fiber calpain-3 A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates. hp0009lx5z Abnormal muscle fibre calpain-3 UMLS:C4022626 owl:Class HP:0100746 biolink:NamedThing Macrodactyly of finger A type of Macrodactyly affecting one or several fingers. hp0009lx5z Macrodactyly of hands doelkens 2011-06-06T06:29:55Z MSH:C537720|UMLS:C0574044|SNOMEDCT_US:297195000 human_phenotype owl:Class HP:0001167 biolink:NamedThing Abnormality of finger An anomaly of a finger. hp0009lx5z Abnormality of finger|Abnormalities of the fingers HP:0003035 UMLS:C2674737 human_phenotype owl:Class HP:0200015 biolink:NamedThing Symmetric great toe depigmentation hp0009lx5z sebastiankohler 2010-06-16T11:57:43Z UMLS:C4021900 human_phenotype owl:Class HP:0001000 biolink:NamedThing Abnormality of skin pigmentation An abnormality of the pigmentation of the skin. hp0009lx5z Abnormal skin colour|Abnormal skin color|Pigmentary skin changes|Pigmentation anomaly|Abnormal skin pigmentation|Abnormality of skin pigmentation|Abnormal pigmentation|Abnormality of pigmentation|Pigmentary changes HP:0200045|HP:0007582 UMLS:C1260926 human_phenotype owl:Class HP:0030497 biolink:NamedThing Macular cotton wool spot Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. hp0009lx5z Cotton-wool spots (CWSs) are common retinal manifestations of many diseases including diabetes mellitus, systemic hypertension, and acquired immunodeficiency syndrome. UMLS:C4072985 owl:Class HP:0031606 biolink:NamedThing Retinal cotton wool spot Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. hp0009lx5z 2017-12-02 11:22:46+00:00 peter owl:Class HP:0009440 biolink:NamedThing Broad phalanges of the 3rd finger Increased width of the phalanges of the 3rd finger. hp0009lx5z Wide/broad middle finger phalanges|Wide bones of middle finger doelkens 2009-01-14T04:09:01Z HP:0004166 UMLS:C4021473 human_phenotype owl:Class HP:0030815 biolink:NamedThing Lipoma of the tongue A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue. hp0009lx5z Tongue lipoma UMLS:C0238467 owl:Class HP:0100648 biolink:NamedThing Neoplasm of the tongue A tumor (abnormal growth of tissue) of the tongue. hp0009lx5z doelkens 2010-12-29T06:14:32Z UMLS:C0040411|MSH:D014062|NCIT:C3262|SNOMEDCT_US:126778001 human_phenotype owl:Class HP:0031544 biolink:NamedThing Elevated circulating palmitoleylcarnitine concentration An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency. hp0009lx5z Elevated circulating O-propionylcarnitine concentration|Elevated plasma propionylcarnitine, C3:0|Elevated plasma palmitoleylcarnitine, C16:1|Elevated propionylcarnitine level 2017-09-24 01:57:19+00:00 peter HP:0033463 owl:Class HP:0045045 biolink:NamedThing Elevated circulating acylcarnitine concentration An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. hp0009lx5z Elevated plasma acylcarnitine levels HPO:skoehler UMLS:C4073171 owl:Class HP:0020079 biolink:NamedThing Beta-alaninuria An increased level of beta-alanine in the urine. hp0009lx5z 2019-02-25 13:34:18+00:00 Beta-alanine is a component of carnosine, anserine and pantothenic acid. It is comprised of propionic acid with the amino group in the 3-position. robinp owl:Class HP:0033098 biolink:NamedThing Increased urinary non-proteinogenic amino acid level An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. hp0009lx5z Elevated urinary non-proteinogenic amino acid level peter owl:Class HP:0032365 biolink:NamedThing Exacerbated by aspirin ingestion Applied to a sign or symptom that is worsened by ingestion of aspirin. hp0009lx5z 2019-02-23 17:36:45+00:00 peter owl:Class HP:0025285 biolink:NamedThing Aggravated by An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe. hp0009lx5z Exacerbated by 2016-12-18 15:29:42+00:00 HPO:probinson owl:Class HP:0003575 biolink:NamedThing Increased intracellular sodium An abnormally increased sodium concentration in the cytosol. hp0009lx5z Increased intracellular Na+ levels|High intracellular Na UMLS:C4025593 human_phenotype owl:Class HP:0011017 biolink:NamedThing Abnormal cellular physiology An abnormality in a cellular process. hp0009lx5z Abnormality of cell physiology peter 2011-02-22T07:05:50Z HP:0025462 UMLS:C4023595 human_phenotype owl:Class HP:0009952 biolink:NamedThing Complete duplication of the middle phalanx of the 2nd finger Complete duplication of the middle phalanx of index finger. hp0009lx5z Complete duplication of the middle bone of the index finger doelkens 2009-05-15T02:05:27Z UMLS:C4024150 human_phenotype owl:Class HP:0009957 biolink:NamedThing Complete duplication of the phalanges of the 2nd finger A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. hp0009lx5z Complete duplication of the bones of the index finger doelkens 2009-05-15T02:08:02Z UMLS:C4024145 human_phenotype owl:Class HP:0003697 biolink:NamedThing Scapuloperoneal amyotrophy Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. hp0009lx5z Scapuloperoneal atrophy HP:0008957|HP:0006920 UMLS:C1842162 human_phenotype owl:Class HP:0003202 biolink:NamedThing Skeletal muscle atrophy The presence of skeletal muscular atrophy (which is also known as amyotrophy). hp0009lx5z Muscle wasting|Muscular atrophy|Neurogenic muscle atrophy, especially in the lower limbs|Amyotrophy involving the extremities|Amyotrophy|Muscle atrophy|Muscle atrophy, neurogenic|Muscle degeneration|Muscle hypotrophy|Neurogenic muscular atrophy|Neurogenic muscle atrophy HP:0003545|HP:0009048|HP:0009010|HP:0003746|HP:0100868|HP:0003702|HP:0007171|HP:0003671|HP:0001299|HP:0006995|HP:0007356 UMLS:C0234958|SNOMEDCT_US:74035001|UMLS:C1843479|UMLS:C0270948|MSH:D009133|UMLS:C0541794 human_phenotype owl:Class HP:0011767 biolink:NamedThing Abnormality of the parathyroid physiology A functional abnormality of the parathyroid gland. hp0009lx5z Parathyroid dysfunction|Parathyroid issue peter 2012-04-22T04:09:13Z UMLS:C4023198 human_phenotype owl:Class HP:0000828 biolink:NamedThing Abnormality of the parathyroid gland An abnormality of the parathyroid gland. hp0009lx5z Parathyroid disease There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. SNOMEDCT_US:73132005|UMLS:C4025822|UMLS:C0030517|MSH:D010279 human_phenotype owl:Class HP:0011717 biolink:NamedThing Atrioventricular reentrant tachycardia Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove. hp0009lx5z AV nodal reentry tachycardia peter 2012-04-11T08:42:52Z UMLS:C4023220 human_phenotype owl:Class HP:0011687 biolink:NamedThing AV nodal tachycardia A type of supraventricular tachycardia that originates in the atrioventricular node. hp0009lx5z Atrioventricular nodal tachycardia|AV nodal tachycardia peter 2012-04-10T08:45:26Z UMLS:C0857265 human_phenotype owl:Class HP:0030888 biolink:NamedThing C3 nephritic factor positivity The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb). hp0009lx5z owl:Class HP:0009349 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 3rd finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. hp0009lx5z Large epiphysis of proximal middle-finger phalanx|Enlarged end part of innermost long bone of the middle finger doelkens 2009-01-12T11:19:03Z HP:0004171 UMLS:C4021488 human_phenotype owl:Class HP:0009413 biolink:NamedThing Enlarged epiphyses of the 3rd finger Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of middle finger bone doelkens 2009-01-14T02:01:59Z UMLS:C4024380 human_phenotype owl:Class HP:0001864 biolink:NamedThing Clinodactyly of the 5th toe Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). hp0009lx5z Curvature of the little toe|Curvature of the pinky toe|Curvature of the pinkie toe UMLS:C4280586|UMLS:C4025741 human_phenotype owl:Class HP:0001863 biolink:NamedThing Toe clinodactyly Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). hp0009lx5z Clinodactyly of feet|Toe curvature UMLS:C4280587|UMLS:C4021770 human_phenotype owl:Class HP:0000488 biolink:NamedThing Retinopathy Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. hp0009lx5z Noninflammatory retina disease SNOMEDCT_US:29555009|MSH:D012164|UMLS:C0035309 human_phenotype owl:Class HP:0000479 biolink:NamedThing Abnormal retinal morphology A structural abnormality of the retina. hp0009lx5z Abnormality of the retina|Retinal disease|Retina issue|Anomaly of the retina|Abnormal retina HP:0007938 UMLS:C0035300|SNOMEDCT_US:29555009|MSH:D012164|UMLS:C0035309 human_phenotype owl:Class HP:0001421 biolink:NamedThing Abnormality of the musculature of the hand hp0009lx5z Abnormal hand muscles peter 2008-04-07T10:59:00Z UMLS:C4025786 human_phenotype owl:Class HP:0001155 biolink:NamedThing Abnormality of the hand An abnormality affecting one or both hands. hp0009lx5z Hand deformities|Abnormality of the hand|Hand anomalies|Abnormal hands HP:0005858 SNOMEDCT_US:299033004|MSH:D006226|UMLS:C0018564 human_phenotype owl:Class HP:0011132 biolink:NamedThing Chronic furunculosis A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. hp0009lx5z Note that a confluence of several furuncles results in a carbuncle. peter 2011-06-19T10:25:47Z UMLS:C4023521 human_phenotype owl:Class HP:0005406 biolink:NamedThing Recurrent bacterial skin infections Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. hp0009lx5z Recurrent episodes of infectious dermatitis|Recurrent pyogenic skin infections|Recurrent bacterial skin infections|Recurrent episodes of impetigo|Recurrent cutaneous pyogenic infections Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection. HP:0000983 UMLS:C1835686 human_phenotype owl:Class HP:0005193 biolink:NamedThing Restricted large joint movement hp0009lx5z UMLS:C4025241 human_phenotype owl:Class HP:0001376 biolink:NamedThing Limitation of joint mobility A reduction in the freedom of movement of one or more joints. hp0009lx5z Decreased joint mobility|Limited joint motion|Limited joint mobility|Limitation of joint mobility|Decreased mobility of joints HP:0003101 UMLS:C1857108 human_phenotype owl:Class HP:0100080 biolink:NamedThing Enlarged epiphyses of the 5th toe hp0009lx5z Enlarged end part of the little toe bone|Enlarged end part of the pinkie toe bone|Enlarged end part of the pinky toe bone doelkens 2010-06-24T10:00:02Z UMLS:C4022341 human_phenotype owl:Class HP:0010551 biolink:NamedThing Paraplegia/paraparesis Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. hp0009lx5z peter 2009-10-01T08:36:05Z UMLS:C4023792 owl:Class HP:0010549 biolink:NamedThing Weakness due to upper motor neuron dysfunction Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. hp0009lx5z Paralysis due to lesions of the principle motor tracts peter 2009-10-01T08:30:25Z UMLS:C4021255 owl:Class HP:0030282 biolink:NamedThing Posterior rib gap Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest. hp0009lx5z Dorsal rib defect UMLS:C1842696 owl:Class HP:0030280 biolink:NamedThing Rib gap Radiolucent focal defect of a rib shaft. hp0009lx5z Rib gap A rib gap can be congenital or acquired. If congenital this feature is nearly pathgnomonic for Cerebrocostomandibular syndrome (MIM:117650). Acquired rib gaps can be seen after surgical procedures or with fractures or infections. SNOMEDCT_US:249705009|UMLS:C0426827 owl:Class HP:0011314 biolink:NamedThing Abnormality of long bone morphology An abnormality of size or shape of the long bones. hp0009lx5z Abnormal shape of long bone|Abnormality of the tubular bones hecht 2012-02-12T02:31:03Z HP:0100715|HP:0100714|HP:0100713 UMLS:C4021165 human_phenotype owl:Class HP:5000025 biolink:NamedThing Anti-mGluR5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5). hp0009lx5z Anti-Metabotropic Glutamate Receptor Type 5 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0005262 biolink:NamedThing Abnormality of the synovia hp0009lx5z peter 2008-03-26T04:27:00Z UMLS:C4025225 human_phenotype owl:Class HP:0001367 biolink:NamedThing Abnormal joint morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. hp0009lx5z Joint disease|Abnormality of the joints|Anomaly of the joints|Abnormal shape of joints UMLS:C0240083|SNOMEDCT_US:399269003|MSH:D007592|UMLS:C0022408 human_phenotype owl:Class HP:0033031 biolink:NamedThing Hyperpyrexia An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit). hp0009lx5z Hyperpyrexia is considered a medical emergency and typically results in referral for emergency care. peter owl:Class HP:0001945 biolink:NamedThing Fever Body temperature elevated above the normal range. hp0009lx5z Pyrexia|Fever|Hyperthermia Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation. SNOMEDCT_US:386661006|SNOMEDCT_US:50177009|MSH:D005334|UMLS:C0015967 owl:Class HP:0011382 biolink:NamedThing Hypoplasia of the semicircular canal Underdevelopment of the semicircular canal. hp0009lx5z Small semicircular canal|Hypoplasia of the semicircular canals peter 2012-03-09T07:15:47Z UMLS:C3552156 human_phenotype owl:Class HP:0011380 biolink:NamedThing Morphological abnormality of the semicircular canal An abnormality of the morphology of the semicircular canal. hp0009lx5z peter 2012-03-09T07:12:21Z UMLS:C4023386 human_phenotype owl:Class HP:0005243 biolink:NamedThing Partial abdominal muscle agenesis Failure to form of portions of the abdominal musculature. hp0009lx5z UMLS:C4025228 human_phenotype owl:Class HP:0010318 biolink:NamedThing Aplasia/Hypoplasia of the abdominal wall musculature Absence or underdevelopment of the abdominal musculature. hp0009lx5z Absent/small abdominal wall muscles|Absent/underdeveloped abdominal wall muscles peter 2009-07-14T11:51:46Z UMLS:C4023909 human_phenotype owl:Class HP:0000410 biolink:NamedThing Mixed hearing impairment A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. hp0009lx5z Hearing loss, mixed|Mixed hearing impairment|Mixed hearing loss MSH:D046089|SNOMEDCT_US:77507001|UMLS:C0155552 human_phenotype owl:Class HP:0000407 biolink:NamedThing Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. hp0009lx5z Hearing loss, sensorineural|Sensorineural hearing loss|Sensorineural deafness Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). HP:0001753|HP:0008614|HP:0000374|HP:0008611|HP:0008553|HP:0008565|HP:0008538|HP:0008576|HP:0001916|HP:0008613 SNOMEDCT_US:60700002|UMLS:C0018784|MSH:D006319 human_phenotype owl:Class HP:0002872 biolink:NamedThing Apneic episodes precipitated by illness, fatigue, stress Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. hp0009lx5z Episodic apnea induced by febrile illness or stress UMLS:C3806462 human_phenotype owl:Class HP:0002104 biolink:NamedThing Apnea Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. hp0009lx5z Apnoea|Apneic episodes|Absence of spontaneous respiration HP:0005958|HP:0005936 MSH:D001049|UMLS:C0003578|SNOMEDCT_US:1023001|SNOMEDCT_US:248583008 owl:Class HP:0410389 biolink:NamedThing Decreased proportion of central memory CD8-positive, alpha-beta T cells A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z owl:Class HP:0410384 biolink:NamedThing Abnormal proportion of central memory CD8-positive, alpha-beta T cells An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z owl:Class HP:0001884 biolink:NamedThing Talipes calcaneovalgus Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. hp0009lx5z Pes calcaneovarus SNOMEDCT_US:31668003|UMLS:C0152237|MSH:D005413|SNOMEDCT_US:205083002 owl:Class HP:0001883 biolink:NamedThing Talipes A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. hp0009lx5z Talipes foot deformities Talipes means (a deformity of) foot and ankle. There are four types of talipes. 1) Talipes equinovarus - the foot is pointing inwards and down (the most common form) 2) Talipes equinovalgus - where the foot points outwards and down 3) Talipes calcaneovarus - where the foot points inwards and up 4) Talipes calcaneovalgus - where the foot points inwards and down. SNOMEDCT_US:398309008|MSH:D000070558|UMLS:C3552713|UMLS:C1301937 owl:Class HP:3000074 biolink:NamedThing Abnormal lingual artery morphology Any structural abnormality of a lingual artery. hp0009lx5z Abnormality of lingual artery vasilevs 2015-08-07T03:39:06Z UMLS:C4073281 human_phenotype owl:Class HP:0010091 biolink:NamedThing Symphalangism affecting the proximal phalanx of the hallux hp0009lx5z Fused innermost bone of big toe doelkens 2009-05-29T12:17:16Z UMLS:C4024056 human_phenotype owl:Class HP:0001092 biolink:NamedThing Absent lacrimal punctum No identifiable superior and/or inferior lacrimal punctum. hp0009lx5z Lacrimal puncta aplasia|Aplasia of lacrimal puncta|Absent lacrimal puncta|Absent lacrimal openings|Absent lacrimal gland puncta|Agenesis of the lacrimal punctum|Lacrimal punctum, absence The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. HP:0007977 MSH:C566703|UMLS:C0344509|UMLS:C1867060|SNOMEDCT_US:204208005|SNOMEDCT_US:253217007 human_phenotype owl:Class HP:0011479 biolink:NamedThing Abnormal lacrimal punctum morphology An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid. hp0009lx5z Abnormality of the lacrimal punctum peter 2012-04-01T09:08:05Z UMLS:C4023337 human_phenotype owl:Class HP:0032086 biolink:NamedThing Aortic smooth muscle cell nuclei loss A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain. hp0009lx5z 2018-10-14 15:00:16+00:00 Smooth muscle cell nuclei loss replaces terms such as medionecrosis and smooth muscle cell necrosis that implied a loss of smooth muscle cells. While the loss of a nucleus suggests the loss of the entire cell, this is not easily appreciated on an hematoxylin and eosin stain stain. The shorter term smooth muscle cell loss was also considered by the consensus group and had many proponents, but the addition of nuclei was ultimately favored by the majority mostly as a histologic definition. Smooth muscle cell nuclei can be lost in patches or can be lost in a band-like pattern. This lesion can be noted in the absence of laminar medial collapse, described below. Both stains highlighting collagen and SMA immunohistochemistry can be used to highlight smooth muscle cell changes. peter owl:Class HP:0032079 biolink:NamedThing Medial degeneration Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections. hp0009lx5z 2018-10-14 14:47:59+00:00 peter owl:Class HP:0010021 biolink:NamedThing Ivory epiphysis of the 1st metacarpal The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. hp0009lx5z Increased bone density of end part of the 1st long bone of hand doelkens 2009-05-27T04:02:50Z UMLS:C4024102 human_phenotype owl:Class HP:0006932 biolink:NamedThing Transient psychotic episodes hp0009lx5z UMLS:C4024958 human_phenotype owl:Class HP:0000725 biolink:NamedThing Psychotic episodes hp0009lx5z Psychotic episodes UMLS:C0338614 human_phenotype owl:Class HP:3000037 biolink:NamedThing Abnormality of neck blood vessel An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. hp0009lx5z Abnormality of the vasculature of the neck|Abnormality of blood vessel of neck|Abnormality of neck blood vessel|Abnormality of the cervical blood vessels|Abnormality of the cervical vasculature vasilevs 2015-08-07T00:36:06Z UMLS:C4073245 human_phenotype owl:Class HP:0002597 biolink:NamedThing Abnormality of the vasculature An abnormality of the vasculature. hp0009lx5z Vascular abnormalities|Abnormality of the vasculature|Abnormality of blood vessels UMLS:C0241657 human_phenotype owl:Class HP:0410149 biolink:NamedThing Drug-induced anaphylaxis A form of anaphylaxis that is triggered by intake of drugs or medications. hp0009lx5z Drug induced anaphylaxis 2018-03-12 21:33:42+00:00 owl:Class HP:0100845 biolink:NamedThing Anaphylactic shock An acute hypersensitivity reaction due to exposure to a previously encountered antigen. hp0009lx5z Anaphylaxis Anaphylaxis may lead to rapidly progressing urticaria, respiratory distress, vascular collapse, systemic shock, and death if untreated. doelkens 2011-06-09T06:54:40Z UMLS:C0002792|MSH:D000707|SNOMEDCT_US:39579001 owl:Class HP:0000590 biolink:NamedThing Progressive external ophthalmoplegia Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. hp0009lx5z External ophthalmoplegia, progressive Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term. HP:0000562 MSH:D017246|UMLS:C0162674|SNOMEDCT_US:46252003 human_phenotype owl:Class HP:0000544 biolink:NamedThing External ophthalmoplegia Paralysis of the external ocular muscles. hp0009lx5z Chronic progressive external ophthalmoplegia|Progressive paralysis or weakness of muscles of eye motility|Paralysis or weakness of muscles within or surrounding outer part of eye|CPEO|Progressive paralysis or weakness of muscles of eye movement|Ophthalmoplegia externa HP:0007762 MSH:D017246|UMLS:C0162292|UMLS:C0162674|MSH:D009886|SNOMEDCT_US:19373007|SNOMEDCT_US:46252003 human_phenotype owl:Class HP:0030147 biolink:NamedThing Truncal titubation Tremor of the trunk in an anterior-posterior plane at 3-4 Hz. hp0009lx5z UMLS:C2674512 owl:Class HP:0030187 biolink:NamedThing Titubation Nodding movement of the head or body. hp0009lx5z SNOMEDCT_US:78691002|UMLS:C0231690 owl:Class HP:0012432 biolink:NamedThing Chronic fatigue Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. hp0009lx5z Chronic extreme exhaustion|Chronic fatigue Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities. peter 2013-11-13T07:49:08Z UMLS:C0518656 owl:Class HP:0008245 biolink:NamedThing Pituitary hypothyroidism A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. hp0009lx5z TSH deficient hypothyroidism|Thyrotropin deficiency|Low thyroid gland function due to abnormal pituitary gland|Secondary hypothyroidism|Thyroid stimulating hormone deficiency HP:0008248 UMLS:C3665349|SNOMEDCT_US:82598004 human_phenotype owl:Class HP:0000830 biolink:NamedThing Anterior hypopituitarism A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. hp0009lx5z UMLS:C4025821 human_phenotype owl:Class HP:0003850 biolink:NamedThing Upper-limb metaphyseal irregularity hp0009lx5z Irregular wide portion of upper limb bones|Irregular metaphyses of the upper limbs UMLS:C4021720 human_phenotype owl:Class HP:0010014 biolink:NamedThing Abnormality of the epiphysis of the 1st metacarpal In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays. hp0009lx5z Abnormality of the end part of the 1st long bone of hand doelkens 2009-05-27T03:43:11Z UMLS:C4024109 human_phenotype owl:Class HP:0006560 biolink:NamedThing Biliary hyperplasia Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia. hp0009lx5z Bile duct hyperplasia UMLS:C3686778|UMLS:C3672440 human_phenotype owl:Class HP:0012440 biolink:NamedThing Abnormal biliary tract morphology A structural abnormality of the biliary tree. hp0009lx5z Anomaly of the biliary tract peter 2013-11-23T02:15:33Z UMLS:C4021086 human_phenotype owl:Class HP:0010844 biolink:NamedThing EEG with multifocal slow activity Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). hp0009lx5z peter 2010-07-10T08:13:54Z UMLS:C4023687 human_phenotype owl:Class HP:0011203 biolink:NamedThing EEG with abnormally slow frequencies EEG with abnormally slow frequencies. hp0009lx5z hecht 2011-11-19T11:26:47Z UMLS:C4023471 human_phenotype owl:Class HP:0025103 biolink:NamedThing Umbilicated nodule A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated). hp0009lx5z 2016-10-28 07:30:43+00:00 HPO:probinson owl:Class HP:0200036 biolink:NamedThing Skin nodule Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. hp0009lx5z Growth of abnormal tissue on or under the skin A nodule is a palpable, solid, round lesion in the deep skin or subcuteaneous tissues that is larger and deeper than a papule. Nodules are solid circumscribed masses. A common definition is that a skin nodule has a diameter of more than 5 mm in infants and more than 10 mm in older children. sebastiankohler 2010-06-18T01:48:50Z SNOMEDCT_US:95319004|UMLS:C0037287 human_phenotype owl:Class HP:0500019 biolink:NamedThing Abnormal resting energy expenditure from metabolic cart test Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2). hp0009lx5z Abnormal metabolic cart test 2017-05-12 16:49:32+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0500015 biolink:NamedThing Abnormal cardiac test Abnormal test result of cardiovascular physiology. hp0009lx5z 2017-05-12 16:23:33+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0030209 biolink:NamedThing Calcium channel antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels. hp0009lx5z Ca channel antibody positivity|Ca2+ channel antibody positivity This abnormality can be observed in patients with Lambert-Eaton syndrome and other paraneoplastic syndromes. UMLS:C4022577 owl:Class HP:0410252 biolink:NamedThing Chronic neutropenia Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months. hp0009lx5z 2018-10-19 18:25:23+00:00 owl:Class HP:0001875 biolink:NamedThing Neutropenia An abnormally low number of neutrophils in the peripheral blood. hp0009lx5z Peripheral neutropenia|Neutropoenia|Low blood neutrophil count|Low neutrophil count Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood. HP:0005533|HP:0005515 SNOMEDCT_US:165517008|UMLS:C0853697 owl:Class HP:0010079 biolink:NamedThing Curved distal phalanx of the hallux A deviation from the normal straight form of the distal phalanx of the big toe. hp0009lx5z Curved outermost bone of big toe doelkens 2009-05-29T12:16:28Z UMLS:C4024066 human_phenotype owl:Class HP:0010061 biolink:NamedThing Curved hallux phalanx A deviation from the normal straight form of one or more phalanges of the big toe. hp0009lx5z Curved phalanges of the hallux|Curve bones of big toe doelkens 2009-05-29T12:10:46Z UMLS:C4021341 human_phenotype owl:Class HP:0004227 biolink:NamedThing Short distal phalanx of the 5th finger Hypoplastic/small distal phalanx of the fifth finger. hp0009lx5z Fifth digit distal phalangeal hypoplasia|Short outermost pinky finger bone|Brachytelophalangism V|Short distal phalanx of the fifth finger|Short outermost pinkie finger bone|Hypoplastic/small terminal phalanx of the little finger|Short outermost little finger bone HP:0006171 UMLS:C1836674 human_phenotype owl:Class HP:0009239 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 5th finger hp0009lx5z Absent/small outermost bone of pinkie finger|Absent/small outermost bone of little finger|Absent/small outermost bone of pinky finger|Absent/underdeveloped outermost bone of pinky finger doelkens 2009-01-05T07:25:50Z UMLS:C4024507 human_phenotype owl:Class HP:0031178 biolink:NamedThing Fixed head retroflexion Head is bent in the posterior direction in a permanent fashion. hp0009lx5z 2017-06-18 20:28:29+00:00 peter owl:Class HP:0000234 biolink:NamedThing Abnormality of the head An abnormality of the head. hp0009lx5z Head abnormality|Abnormality of the head|Abnormal head UMLS:C4021812 human_phenotype owl:Class HP:0011541 biolink:NamedThing Criss-cross atrioventricular valves Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis. hp0009lx5z peter 2012-04-07T10:51:57Z UMLS:C4023310 human_phenotype owl:Class HP:0025137 biolink:NamedThing Decreased serum estriol A reduction below normal limits of estriol in the circulation. hp0009lx5z 2016-11-27 14:13:33+00:00 HPO:probinson owl:Class HP:0025135 biolink:NamedThing Abnormal serum estriol A deviation from normal concentration of estriol in the circulation. hp0009lx5z 2016-11-27 14:10:45+00:00 HPO:probinson owl:Class HP:0012522 biolink:NamedThing Spider hemangioma A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released. hp0009lx5z Spider hemangiomas are up to a few centimeters in diameter. peter 2013-12-14T08:31:15Z UMLS:C4022867 human_phenotype owl:Class HP:0100585 biolink:NamedThing Telangiectasia of the skin Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. hp0009lx5z Teleangiectasia of the skin doelkens 2010-12-27T03:06:35Z UMLS:C4022018 human_phenotype owl:Class HP:0025274 biolink:NamedThing Ovarian dermoid cyst An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others. hp0009lx5z Mature cystic ovarian teratoma 2016-12-18 13:56:16+00:00 HPO:probinson owl:Class HP:0000138 biolink:NamedThing Ovarian cyst The presence of one or more cysts of the ovary. hp0009lx5z Ovarian cyst|Cystic abnormalities of the ovaries|Ovarian cystic abnormality|Cystic ovaries HP:0000146 MSH:D010048|SNOMEDCT_US:79883001|UMLS:C0029927 human_phenotype owl:Class HP:0009991 biolink:NamedThing Complete duplication of the distal phalanx of the 5th finger Complete duplication of the distal phalanx of little finger. hp0009lx5z Complete duplication of the outermost little finger bone|Complete duplication of the outermost pinkie finger bone|Complete duplication of the outermost pinky finger bone doelkens 2009-05-26T02:24:33Z UMLS:C4024126 human_phenotype owl:Class HP:0010001 biolink:NamedThing Complete duplication of the distal phalanges of the hand A complete duplication affecting one or more of the distal phalanges of the hand. hp0009lx5z Complete duplication of the outermost bones of the hand As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism. doelkens 2009-05-26T03:55:02Z UMLS:C4024118 human_phenotype owl:Class HP:0008724 biolink:NamedThing Hypoplasia of the ovary Developmental hypoplasia of the ovary. hp0009lx5z Hypoplastic ovary|Underdeveloped ovary UMLS:C1835452|UMLS:C0685840|SNOMEDCT_US:93279005 human_phenotype owl:Class HP:0010462 biolink:NamedThing Aplasia/Hypoplasia of the ovary Aplasia or developmental hypoplasia of the ovary. hp0009lx5z Absent/underdeveloped ovary|Absent/small ovary peter 2009-09-15T08:38:35Z UMLS:C4023818 human_phenotype owl:Class HP:0011645 biolink:NamedThing Dilatation of the sinus of Valsalva Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. hp0009lx5z Aneurysm of the aortic sinus|Aortic sinus aneurysm|Sinus of Valsalva aneurysm Aneurysm is considered a severe form of dilatation. peter 2012-04-09T09:31:57Z Fyler:2316|SNOMEDCT_US:54160000|UMLS:C2239253 human_phenotype owl:Class HP:0004970 biolink:NamedThing Ascending tubular aorta aneurysm An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. hp0009lx5z Dilatation of ascending aorta|Ascending aorta dilation|Ascending aortic aneurysm|Bulging of wall of large artery located above heart|Ascending aortic dilation|Aneurysm of the ascending tubular aorta Aneurysm is considered a severe form of dilatation. HP:0005128|HP:0005111 UMLS:C0345049|Fyler:2701|SNOMEDCT_US:253645007|Fyler:2310 owl:Class HP:0012037 biolink:NamedThing Pectoralis amyotrophy Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. hp0009lx5z Wasting of pec muscles peter 2012-07-27T01:55:38Z UMLS:C4023066 human_phenotype owl:Class HP:0011957 biolink:NamedThing Abnormal pectoral muscle morphology An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major. hp0009lx5z Abnormal pec muscles peter 2012-06-22T08:06:04Z UMLS:C4023108 human_phenotype owl:Class HP:0001713 biolink:NamedThing Abnormal cardiac ventricle morphology An abnormality of a cardiac ventricle. hp0009lx5z Abnormality of cardiac ventricle UMLS:C4025752 owl:Class HP:0001627 biolink:NamedThing Abnormal heart morphology Any structural anomaly of the heart. hp0009lx5z Abnormally shaped heart|Congenital heart defect|Cardiac anomalies|Abnormality of cardiac morphology|Cardiac abnormality|Heart defect|Cardiac anomaly|Congenital heart defects|Abnormality of the heart HP:3000001 UMLS:C0018798|SNOMEDCT_US:13213009|UMLS:C0152021|MSH:D006330 owl:Class HP:0009431 biolink:NamedThing Bullet-shaped middle phalanx of the 3rd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected. hp0009lx5z Bullet-shaped middle bone of middle finger doelkens 2009-01-14T03:41:31Z UMLS:C4024367 human_phenotype owl:Class HP:0004172 biolink:NamedThing Abnormality of the middle phalanx of the 3rd finger hp0009lx5z Abnormal middle finger bone of the middle finger UMLS:C4025410 human_phenotype owl:Class HP:0033552 biolink:NamedThing Chronic villitis Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. hp0009lx5z Nonspecific chronic villitis|Villitis of unknown aetiology|Villitis of unknown etiology|Chronic villitis (non-infectious) 2021-01-22 12:38:39+00:00 peter owl:Class HP:0011409 biolink:NamedThing Abnormal placental membrane morphology Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix. hp0009lx5z Abnormality of placental membranes peter 2012-03-15T11:07:01Z UMLS:C4023369 owl:Class HP:0000870 biolink:NamedThing Increased circulating prolactin concentration The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. hp0009lx5z Hyperprolactinaemia|Prolactin excess|Hyperprolactinemia UMLS:C0020514|SNOMEDCT_US:237662005|MSH:D006966 human_phenotype owl:Class HP:0010514 biolink:NamedThing Hyperpituitarism Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma. hp0009lx5z peter 2009-09-19T04:14:54Z MSH:D006964|UMLS:C0020506|SNOMEDCT_US:10649000 human_phenotype owl:Class HP:0030349 biolink:NamedThing Decreased circulating androgen concentration A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. hp0009lx5z Decreased circulating androgen level UMLS:C4072894 owl:Class HP:0030347 biolink:NamedThing Abnormal circulating androgen level An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. hp0009lx5z UMLS:C4072892 owl:Class HP:0000277 biolink:NamedThing Abnormality of the mandible Any abnormality of the mandible, the bone of the lower jaw. hp0009lx5z Abnormality of the mandible|Malformation of the mandible|Abnormality of the lower jaw bone|Malformation of the lower jaw bone|Deformity of the lower jaw bone|Deformity of the mandible|Anomaly of the mandible HP:0000209 UMLS:C4025870 human_phenotype owl:Class HP:0030791 biolink:NamedThing Abnormal jaw morphology A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. hp0009lx5z UMLS:C4280767 owl:Class HP:0009614 biolink:NamedThing Bifid proximal phalanx of the thumb This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Notched thumb bone doelkens 2009-01-29T04:01:27Z UMLS:C4024272 human_phenotype owl:Class HP:0010005 biolink:NamedThing Partial duplication of the middle phalanges of the hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. hp0009lx5z Partial duplication of the middle bones of hand doelkens 2009-05-26T03:55:29Z UMLS:C4024115 human_phenotype owl:Class HP:0003419 biolink:NamedThing Low back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. hp0009lx5z Lower back pain MSH:D017116|SNOMEDCT_US:279039007|UMLS:C0024031 human_phenotype owl:Class HP:0003418 biolink:NamedThing Back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. hp0009lx5z Back pain UMLS:C0004604|MSH:D001416|SNOMEDCT_US:161891005 owl:Class HP:0002669 biolink:NamedThing Osteosarcoma A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. hp0009lx5z Osteogenic sarcoma|Bone cell cancer SNOMEDCT_US:21708004|NCIT:C9145|SNOMEDCT_US:307576001|MSH:D012516|UMLS:C0029463 human_phenotype owl:Class HP:0100242 biolink:NamedThing Sarcoma A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. hp0009lx5z Malignant connective tissue tumor|Malignant connective tissue tumour|Cancer of connective tissue A sarcoma (from the Greek sarx meaning flesh) is a general term describing a malignant neoplasm, or cancer, that arises from transformed connective tissue cells such as bone, cartilage and fat cells, which originate from embryonic mesoderm. This is in contrast to carcinomas, which are of epithelial origin (breast, colon, pancreas, and others). However, due to an evolving understanding of tissue origin, the term sarcoma is sometimes applied to tumors now known to arise from epithelial tissue. The term soft tissue sarcoma is used to describe tumors of soft tissue, which includes elements that are in connective tissue, but not derived from it (such as muscles and blood vessels). doelkens 2010-07-08T10:43:57Z SNOMEDCT_US:424413001|MSH:D012509|NCIT:C9118|SNOMEDCT_US:2424003|SNOMEDCT_US:424952003|UMLS:C1261473|SNOMEDCT_US:269469005 human_phenotype owl:Class HP:0004247 biolink:NamedThing Small scaphoid Underdevelopment of the scaphoid. hp0009lx5z UMLS:C4025394 human_phenotype owl:Class HP:0004243 biolink:NamedThing Abnormality of the scaphoid hp0009lx5z UMLS:C4025397 human_phenotype owl:Class HP:0000455 biolink:NamedThing Broad nasal tip Increase in width of the nasal tip. hp0009lx5z Increased breadth of tip of nose|Broad nasal tip|Increased breadth of nasal tip|Broad tip of nose|Broad upturned nose|Nasal tip, broad|Increased width of tip of nose|Wide tip of nose|Increased width of nasal tip|Nasal tip, wide|Broad, upturned nose Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. HP:0005269|HP:0004501 UMLS:C0426429|SNOMEDCT_US:249327002 human_phenotype owl:Class HP:0000436 biolink:NamedThing Abnormality of the nasal tip An abnormality of the nasal tip. hp0009lx5z Deformity of tip of nose|Abnormality of tip of nose|Malformation of tip of nose|Malformation of the nasal tip|Abnormality of the nasal tip|Deformity of the nasal tip The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane. UMLS:C4025852 human_phenotype owl:Class HP:0000411 biolink:NamedThing Protruding ear Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). hp0009lx5z Prominent ear|Prominent ears|Protruding ears HP:0000412 SNOMEDCT_US:275478007|UMLS:C1855285|UMLS:C1305420 human_phenotype owl:Class HP:0000377 biolink:NamedThing Abnormality of the pinna An abnormality of the pinna, which is also referred to as the auricle or external ear. hp0009lx5z Malformation of auricle|Abnormally shaped ears|Malformed ears|Deformed auricles|Auricular malformation|Deformed ears|Minor malformation of the auricles|Poorly defined conchae|Abnormal form of ears|Malformed auricles|Malformed external ears|Dysplastic ears The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. HP:0008602|HP:0004465|HP:0008567|HP:0008562|HP:0008566|HP:0008582|HP:0008580|HP:0000398|HP:0000390 SNOMEDCT_US:253255002|UMLS:C0431483|UMLS:C0857379 human_phenotype owl:Class HP:0030443 biolink:NamedThing Anal margin basal cell carcinoma A basal cell carcinoma that originates in the anal margin. hp0009lx5z UMLS:C1332269 owl:Class HP:0030440 biolink:NamedThing Anal margin neoplasm A tumor of the anal margin. hp0009lx5z The anal canal is defined as the caudal part of the large intestine extending from the anorectal ring to the anal verge and is about 3 to 5 cm in length. Outside of the anal verge lies the anal margin, also referred to as the perianal skin, which commonly encompasses a radius of 5 cm. The anal verge can be identified visually as the part of the anal canal remaining closed when the buttocks are gently retracted. The upper anal canal is lined by columnar tissue that transitions into squamous epithelium at the dentate line. The dentate line, identified by the termination of the anal columns, lies 1 to 2 cm above the anal verge. UMLS:C2064234 owl:Class HP:0011510 biolink:NamedThing Drusen Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. hp0009lx5z peter 2012-04-06T09:54:42Z UMLS:C1260959|SNOMEDCT_US:18695008 human_phenotype owl:Class HP:0030506 biolink:NamedThing Yellow/white lesions of the retina hp0009lx5z UMLS:C4072991 owl:Class HP:0007509 biolink:NamedThing Patchy hypo- and hyperpigmentation hp0009lx5z Patchy hypo- and hyper-pigmentation HP:0007487 UMLS:C4021573 human_phenotype owl:Class HP:0009123 biolink:NamedThing Mixed hypo- and hyperpigmentation of the skin hp0009lx5z peter 2008-04-05T11:36:00Z UMLS:C4024584 human_phenotype owl:Class HP:0012724 biolink:NamedThing Upper eyelid edema Edema in the region of the upper eyelid. hp0009lx5z Cellulitis of upper eyelid|Fullness of upper eyelid|Upper eyelid oedema|Puffiness of upper eyelid|Swelling of upper eyelid peter 2014-03-23T01:38:57Z UMLS:C3839407|UMLS:C2025988|SNOMEDCT_US:700339006 human_phenotype owl:Class HP:0100540 biolink:NamedThing Palpebral edema Edema in the region of the eyelids. hp0009lx5z Eyelid oedema|Eyelid edema|Oedema of the eyelids|Puffy lids|Swelling of eyelids|Palpebral oedema|Puffy eyelids|Fullness of eyelids|Edema of the eyelids doelkens 2010-12-20T06:09:32Z HP:0000626 SNOMEDCT_US:89091004|UMLS:C0162285 human_phenotype owl:Class HP:0004616 biolink:NamedThing Cleft vertebral arch A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra. hp0009lx5z Cleft vertebral arches UMLS:C1859458 human_phenotype owl:Class HP:0008438 biolink:NamedThing Vertebral arch anomaly A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. hp0009lx5z Vertebral arch abnormalities A vertebral arch is the posterior part of a vertebra and forms the canal through which the spinal cord passes. A vertebral arch consists of (i) a pair of vertebral pedicles, which are short thick processes that extend from the vertebral body to connect the body to the vertebral arch; (ii) a pari of vertebral laminae (broad plates that extending dorsally and medially from the pedicles fusing with one another to complete the roof of the vertebral arch); (iii) the spinous process (a process that is directed backward and downward from the junction of the laminae and to which muscles and ligaments attach); (iv) two superior articular processes and two inferior articular processes that articulate between two adjacent vertebrae); and (v) two transverse processes that extend at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes and allow the attachment of muscles and ligaments. UMLS:C1835764 human_phenotype owl:Class HP:0100391 biolink:NamedThing Short distal phalanx of the 5th toe Developmental hypoplasia of the distal phalanx of little toe. hp0009lx5z Short outermost bone of the little toe|Short outermost bone of the pinky toe|Hypoplastic/small distal phalanx of the 5th toe|Short distal phalanx of the fifth toe|Short outermost bone of the pinkie toe UMLS:C4021006 human_phenotype owl:Class HP:0100371 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 5th toe hp0009lx5z Absent/underdeveloped outermost pinky toe bone|Absent/small outermost pinky toe bone|Absent/small outermost little toe bone|Absent/small outermost pinkie toe bone UMLS:C4022120 human_phenotype owl:Class HP:0031465 biolink:NamedThing Abnormal vasa vasorum morphology A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products. hp0009lx5z 2017-09-17 16:23:44+00:00 peter owl:Class HP:0033353 biolink:NamedThing Abnormal blood vessel morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). hp0009lx5z 2020-12-01 11:42:14+00:00 peter owl:Class HP:0010250 biolink:NamedThing Fragmentation of the epiphyses of the distal phalanges of the hand hp0009lx5z Fragmentation of the end part of the outermost hand bones doelkens 2009-07-06T04:23:06Z UMLS:C4023949 human_phenotype owl:Class HP:0030155 biolink:NamedThing Scrotal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum. hp0009lx5z Scrotal pain SNOMEDCT_US:20502007|UMLS:C0236078 owl:Class HP:0032739 biolink:NamedThing Focal emotional seizure with fear/anxiety/panic Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. hp0009lx5z These seizures arise in mesial temporal networks, especially the amygdala. They can be distinguished from panic attacks, by the presence of impaired awareness, automatisms and other features of an epileptic seizure appearing in a stereotyped manner. They are also distinguished from a focal autonomic seizure with epigastric sensation, where the onset seizure feature is an autonomic epigastric sensation, and fear may be present as a secondary feature. peter owl:Class HP:0025613 biolink:NamedThing Focal emotional seizure Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. hp0009lx5z Focal affective seizure|Emotional seizure|Affective seizure|Partial emotional seizure 2018-10-07 16:18:24+00:00 Focal emotional seizures are characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. Emotions include: fear/anxiety/panic, laughing (gelastic), crying (dacrystic), pleasure, anger. HPO:probinson owl:Class HP:0000506 biolink:NamedThing Telecanthus Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. hp0009lx5z Dystopia canthorum|Increased distance between medial canthi|Corners of eye widely separated|Increased intercanthal distance Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced. MSH:C562941|SNOMEDCT_US:246803005|UMLS:C0423113 human_phenotype owl:Class HP:0025257 biolink:NamedThing Ameliorated by carbohydrate ingestion Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar). hp0009lx5z 2016-12-17 14:21:33+00:00 HPO:probinson owl:Class HP:0025254 biolink:NamedThing Ameliorated by An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable hp0009lx5z Improved by 2016-12-17 14:17:46+00:00 HPO:probinson owl:Class HP:0030300 biolink:NamedThing 10 pairs of ribs Presence of only 10 (instead of the usual 12) pairs of ribs. hp0009lx5z 10 pairs of ribs UMLS:C4022526 owl:Class HP:0000921 biolink:NamedThing Missing ribs A developmental anomaly with absence of one or more ribs. hp0009lx5z Missing ribs|Absent ribs|Decreased rib number HP:0000881|HP:0006627 UMLS:C0426816|SNOMEDCT_US:249695006 human_phenotype owl:Class HP:0031406 biolink:NamedThing Abnormal cytokine signaling Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. hp0009lx5z Abnormal cytokine signalling 2017-09-03 15:59:36+00:00 peter owl:Class HP:0011111 biolink:NamedThing Abnormality of immune serum protein physiology An abnormality of the concentration or function of circulating immune proteins. hp0009lx5z peter 2011-06-12T08:58:47Z UMLS:C4023536 human_phenotype owl:Class HP:0000414 biolink:NamedThing Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose. hp0009lx5z Bulbous nose|Potato nose|Bulbous nasal tip This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. HP:0000443 UMLS:C1834118|UMLS:C1855751|UMLS:C0240543|MSH:C538354 human_phenotype owl:Class HP:0006243 biolink:NamedThing Phalangeal dislocation hp0009lx5z UMLS:C2673396 human_phenotype owl:Class HP:0003406 biolink:NamedThing Peripheral nerve compression hp0009lx5z UMLS:C1851414 human_phenotype owl:Class HP:0045010 biolink:NamedThing Abnormality of peripheral nerves hp0009lx5z HPO:skoehler UMLS:C4022400 owl:Class HP:0030642 biolink:NamedThing Fundus albipunctatus hp0009lx5z SNOMEDCT_US:68222009|MSH:C562733|UMLS:C0311338 owl:Class HP:0012045 biolink:NamedThing Retinal flecks Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. hp0009lx5z peter 2012-08-01T12:17:00Z UMLS:C0423414|SNOMEDCT_US:247138002 human_phenotype owl:Class HP:0100530 biolink:NamedThing Abnormal calcium-phosphate regulating hormone level Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. hp0009lx5z Abnormal Ca2+ PO4 regulating hormone level|Abnormal Ca-PHOS regulating hormone level doelkens 2010-12-20T12:00:26Z UMLS:C4022031 owl:Class HP:0033331 biolink:NamedThing Acute phase response Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing. hp0009lx5z 2020-11-29 16:35:16+00:00 peter owl:Class HP:0007017 biolink:NamedThing Progressive forgetfulness hp0009lx5z Forgetfullness UMLS:C3277688 owl:Class HP:0002354 biolink:NamedThing Memory impairment An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. hp0009lx5z Forgetfulness|Poor memory|Memory impairment|Memory problems|Memory loss Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. HP:0000747|HP:0002081 SNOMEDCT_US:55533009|UMLS:C0233794|MSH:D008569|UMLS:C0751295|SNOMEDCT_US:386807006|UMLS:C0542476 owl:Class HP:0100268 biolink:NamedThing Upper lip pit Depression located on the vermilion of the upper lip, usually paramedian. hp0009lx5z A lip pit may be connected by a fistula to mucous minor salivary glands in the upper lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). doelkens 2010-07-20T04:06:52Z UMLS:C4022176 human_phenotype owl:Class HP:0006769 biolink:NamedThing Myxoid subcutaneous tumors hp0009lx5z Myxoid subcutaneous tumours UMLS:C1834421 human_phenotype owl:Class HP:0030346 biolink:NamedThing Abnormal circulating follicle-stimulating hormone concentration An anomaly of the circulating level of follicle-stimulating hormone (FSH). hp0009lx5z Abnormal circulating follicle-stimulating hormone level UMLS:C4072891 owl:Class HP:0030338 biolink:NamedThing Abnormal circulating gonadotropin concentration An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). hp0009lx5z Abnormal circulating gonadotropin level UMLS:C4072886 owl:Class HP:0025445 biolink:NamedThing Morphological abnormality of the papillary muscles Any structural anomaly of the papillary muscles of the left ventricle. hp0009lx5z 2017-04-30 10:43:49+00:00 There are normally two papillary muscles. The antero-lateral papillary muscle is located in the apical third of the ventricular wall, and the postero-medial papillary muscle is located in the middle third of the ventricular wall. The antero-lateral papillary muscle is usually composed of one body or head, and the postero-medial papillary muscle usually with two bodies or heads. Each papillary muscle provides chordae to both leaflets of the mitral valve, with one of the major functions of the papillary muscles being to prevents prolapse of anterior and posterior cusps of mitral valve during systole. HPO:probinson owl:Class HP:0001711 biolink:NamedThing Abnormal left ventricle morphology Any structural abnormality of the left ventricle of the heart. hp0009lx5z Abnormality of the left ventricle|Left ventricular abnormality|Abnormal heart left ventricle morphology SNOMEDCT_US:253535002|Fyler:1810|UMLS:C0344905 human_phenotype owl:Class HP:0100936 biolink:NamedThing Sclerosis of the middle phalanx of the 3rd toe An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in the middle bone of the 3rd toe UMLS:C4021922 human_phenotype owl:Class HP:0100927 biolink:NamedThing Sclerosis of 3rd toe phalanx An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in 3rd toe bone|Sclerosis of the phalanges of the 3rd toe UMLS:C4020929 human_phenotype owl:Class HP:0004794 biolink:NamedThing Malrotation of small bowel A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. hp0009lx5z Malrotation of the small intestine Malrotation results not only in the malposition of the bowel but also in the malfixation of the mesentery. The normally broad mesenteric attachment is shortened to a narrow pedicle that predisposes the patient to the complication of midgut volvulus. UMLS:C1860244 human_phenotype owl:Class HP:0002566 biolink:NamedThing Intestinal malrotation An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. hp0009lx5z Gut malrotation|Malrotation HP:0002026 UMLS:C0221210|MEDDRA:10064024|SNOMEDCT_US:48641006|SNOMEDCT_US:253789002|SNOMEDCT_US:29980002|MSH:C562456 human_phenotype owl:Class HP:0100653 biolink:NamedThing Optic neuritis Inflammation of the optic nerve. hp0009lx5z Optic neuritis can cause loss of vision because of swelling and destruction of the myelin sheath covering the optic nerve and/or direct axonal damage. doelkens 2010-12-30T09:56:38Z UMLS:C0029134|MSH:D009902|SNOMEDCT_US:66760008 human_phenotype owl:Class HP:0033429 biolink:NamedThing Neuroinflammation Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain. hp0009lx5z 2021-01-09 17:51:49+00:00 peter owl:Class HP:0040183 biolink:NamedThing Encopresis hp0009lx5z Stool soiling|Stool holding UMLS:C2945606|SNOMEDCT_US:302690004 owl:Class HP:0002607 biolink:NamedThing Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained. hp0009lx5z Anal incontinence|Fecal incontinence|Faecal incontinence|Loss of bowel control HP:0007147 MSH:D005242|SNOMEDCT_US:72042002|UMLS:C0015732 human_phenotype owl:Class HP:0012083 biolink:NamedThing Ubiquitin-positive cerebral inclusion bodies Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain. hp0009lx5z peter 2012-08-18T05:34:56Z UMLS:C4023052 human_phenotype owl:Class HP:0000426 biolink:NamedThing Prominent nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age. hp0009lx5z Prominent nasal bridge|Convex nasal bridge|Elevated nasal bridge|Protruding bridge of nose|Protruding nasal bridge|High nasal bridge|Convex bridge of nose|Prominent nasal root|Prominent bridge of nose A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. HP:0005287|HP:0000442|HP:0004498|HP:0000432 UMLS:C4230640|UMLS:C1854113 human_phenotype owl:Class HP:0000422 biolink:NamedThing Abnormal nasal bridge morphology Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. hp0009lx5z Malformation of the bridge of the nose|Abnormality of the nasal root|Deformity of the bridge of the nose|Abnormality of the bridge of the nose|Abnormality of the nasal bridge|Malformation of the nasal bridge|Deformity of the nasal bridge The nasal root is the most depressed, superior part of the nose along the nasal ridge. HP:0000423 UMLS:C4021805 owl:Class HP:0012470 biolink:NamedThing Setting-sun eye phenomenon An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid. hp0009lx5z Setting-sun eye phenomenon|Eyes fixed downward|Sun setting eyes|Sunsetting eye Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure. peter 2013-11-26T05:40:01Z SNOMEDCT_US:63342001|UMLS:C4020721|UMLS:C0423128 human_phenotype owl:Class HP:0000597 biolink:NamedThing Ophthalmoparesis Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. hp0009lx5z Weakness of extraocular eye movement|Weakness of muscles controlling eye movement|Extraocular muscle paralysis|Extraocular muscle palsy HP:0008044|HP:0007701 UMLS:C0751401|MSH:D009886 human_phenotype owl:Class HP:0001710 biolink:NamedThing Conotruncal defect A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. hp0009lx5z Conotruncal heart defects UMLS:C1853238 human_phenotype owl:Class HP:0010975 biolink:NamedThing Abnormal B cell count A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. hp0009lx5z Abnormal number of B cells|Abnormality of B cell count|Abnormality of B cell numbers|Abnormal numbers of B cells peter 2011-02-06T09:38:18Z UMLS:C4021208 human_phenotype owl:Class HP:0002846 biolink:NamedThing Abnormal B cell morphology A structural abnormality of B cells. hp0009lx5z Abnormal B cells|Abnormality of B cells B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells. UMLS:C4021748 human_phenotype owl:Class HP:0005652 biolink:NamedThing Cortical sclerosis Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. hp0009lx5z UMLS:C4025164 human_phenotype owl:Class HP:0003103 biolink:NamedThing Abnormal cortical bone morphology An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. hp0009lx5z Abnormality of cortical bone|Abnormal compact bone morphology UMLS:C4021741 human_phenotype owl:Class HP:0030726 biolink:NamedThing Spinal neurenteric cyst A neurenteric cyst located in the spine. hp0009lx5z UMLS:C4280799 owl:Class HP:0030725 biolink:NamedThing Neurenteric cyst The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium. hp0009lx5z Individuals diagnosed with neurenteric cysts most frequently present in the second and third decades of life with a male-to-female ratio of approximately 2:1. Moreover, in the pediatric population, 61.2 percent of patients found to have neurenteric cysts are male with a mean age of 6.4 years at presentation. The majority of adult patients with neurenteric cysts present with progressive focal pain at the level of spinal axis pathology, fluctuating myelopathic signs, or radicular symptoms. MSH:D009436|SNOMEDCT_US:253127008|SNOMEDCT_US:41353005|UMLS:C0027806 owl:Class HP:0032007 biolink:NamedThing Maceration A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue. hp0009lx5z Skin maceration|Maceration of the skin 2018-07-17 13:09:36+00:00 peter owl:Class HP:0002974 biolink:NamedThing Radioulnar synostosis An abnormal osseous union (fusion) between the radius and the ulna. hp0009lx5z Fused forearm bones HP:0003962 MEDDRA:10037798|SNOMEDCT_US:33313004|UMLS:C0158761|MSH:C562408 human_phenotype owl:Class HP:0002997 biolink:NamedThing Abnormality of the ulna An abnormality of the ulna bone of the forearm. hp0009lx5z UMLS:C4025662 human_phenotype owl:Class HP:0030180 biolink:NamedThing Oppenheim reflex Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe). hp0009lx5z Oppenheim sign This reflex can indicate affection of the corticospinal (pyramidal) tracts. UMLS:C1532837|SNOMEDCT_US:414949005 owl:Class HP:0007256 biolink:NamedThing Abnormal pyramidal sign Functional neurological abnormalities related to dysfunction of the pyramidal tract. hp0009lx5z Pyramidal signs|Corticospinal signs|Pyramidal tract signs Presence of these signs can indicate affection of the corticospinal (pyramidal) tracts. HP:0007161|HP:0007275|HP:0003488|HP:0007225|HP:0007324|HP:0007347 SNOMEDCT_US:14648003|UMLS:C0234132 owl:Class HP:0005241 biolink:NamedThing Total intestinal aganglionosis A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel. hp0009lx5z UMLS:C0345240|SNOMEDCT_US:204745000|MSH:C538058 human_phenotype owl:Class HP:0004362 biolink:NamedThing Abnormality of enteric ganglion morphology An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow. hp0009lx5z Abnormality of the enteric ganglia peter 2008-03-17T03:40:00Z HP:0002596|HP:0003283 UMLS:C4025338 human_phenotype owl:Class HP:0030070 biolink:NamedThing Central primitive neuroectodermal tumor A primitive neuroectodermal neoplasm that occurs in the central nervous system. hp0009lx5z Central primitive neuroectodermal tumour UMLS:C3887678|SNOMEDCT_US:39781001 owl:Class HP:0030065 biolink:NamedThing Primitive neuroectodermal tumor A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation. hp0009lx5z Primitive neuroectodermal tumour SNOMEDCT_US:39781001|SNOMEDCT_US:699028006|MSH:D018242|UMLS:C0206663|SNOMEDCT_US:55045006 owl:Class HP:0100939 biolink:NamedThing Sclerosis of the distal phalanx of the 2nd toe hp0009lx5z Increased bone density in the outermost bone of the 2nd toe UMLS:C4021919 human_phenotype owl:Class HP:0100926 biolink:NamedThing Sclerosis of 2nd toe phalanx An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in 2nd toe bone|Sclerosis of the phalanges of the 2nd toe UMLS:C4020930 human_phenotype owl:Class HP:0100326 biolink:NamedThing Immunologic hypersensitivity Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. hp0009lx5z doelkens 2010-09-16T06:00:43Z UMLS:C0237653 human_phenotype owl:Class HP:0000551 biolink:NamedThing Color vision defect An anomaly in the ability to discriminate between or recognize colors. hp0009lx5z Colour vision defect, severe|Loss in colour vision|Color vision defect, severe|Color vision defects|Loss in color vision|Abnormality of color vision|Colour vision defect|Colour vision defects|Abnormality of colour vision|Abnormal colour vision|Abnormal color vision MSH:D003117|UMLS:C3552853|UMLS:C0009398|UMLS:C0234629|SNOMEDCT_US:23289000|SNOMEDCT_US:367469000 owl:Class HP:0000504 biolink:NamedThing Abnormality of vision Abnormality of eyesight (visual perception). hp0009lx5z Abnormality of vision|Vision issue|Abnormality of sight UMLS:C4025846 human_phenotype owl:Class HP:0004981 biolink:NamedThing Prominent styloid process of ulna hp0009lx5z UMLS:C4025262 human_phenotype owl:Class HP:0004035 biolink:NamedThing Abnormality of the styloid process of ulna hp0009lx5z UMLS:C4025427 human_phenotype owl:Class HP:0030541 biolink:NamedThing Unaided visual acuity 0.6 LogMAR hp0009lx5z UMLS:C4073015 owl:Class HP:0030533 biolink:NamedThing Abnormal unaided visual acuity test hp0009lx5z UMLS:C4073007 owl:Class HP:0030164 biolink:NamedThing Jaw claudication Pain in the jaw or ear induced by chewing or otherwise moving the jaw. hp0009lx5z Jaw pain while chewing SNOMEDCT_US:43922008|UMLS:C0239064 owl:Class HP:0025323 biolink:NamedThing Abnormal arterial physiology An anomaly of arterial function. hp0009lx5z 2017-02-03 12:08:38+00:00 HPO:probinson owl:Class HP:0006226 biolink:NamedThing Osteoarthritis of the first carpometacarpal joint hp0009lx5z UMLS:C0409956|SNOMEDCT_US:37895003 human_phenotype owl:Class HP:0004268 biolink:NamedThing Osteoarthritis of the small joints of the hand hp0009lx5z UMLS:C4025381 human_phenotype owl:Class HP:0010489 biolink:NamedThing Absent palmar crease The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). hp0009lx5z Absent palm lines|Aplasia of the palmar creases|Absence of the palmar creases peter 2009-09-16T10:54:09Z UMLS:C4021262 human_phenotype owl:Class HP:0010488 biolink:NamedThing Aplasia/Hypoplasia of the palmar creases Absence or underdevelopment of the palmar creases. hp0009lx5z Absent/small palm crease|Absent/underdeveloped palm crease peter 2009-09-16T10:53:24Z UMLS:C4023806 human_phenotype owl:Class HP:0000709 biolink:NamedThing Psychosis A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs. hp0009lx5z Psychosis SNOMEDCT_US:69322001|UMLS:C0033975|MSH:D011618 human_phenotype owl:Class HP:0006931 biolink:NamedThing Lipoma of corpus callosum hp0009lx5z UMLS:C1333160 human_phenotype owl:Class HP:0006866 biolink:NamedThing Midline central nervous system lipomas hp0009lx5z Midline CNS lipomas UMLS:C4024973 human_phenotype owl:Class HP:0001544 biolink:NamedThing Prominent umbilicus Abnormally prominent umbilicus (belly button). hp0009lx5z Prominent navel|Prominent belly button UMLS:C1837795 human_phenotype owl:Class HP:0002959 biolink:NamedThing Impaired Ig class switch recombination An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. hp0009lx5z Impaired B-lymphocyte isotype switching The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE. UMLS:C1842528 human_phenotype owl:Class HP:0005372 biolink:NamedThing Abnormality of B cell physiology An abnormality of the physiological functioning of B cells. hp0009lx5z Reduced B cell function|Abnormality of B cell physiology This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells. HP:0005398 UMLS:C1849242 human_phenotype owl:Class HP:0000787 biolink:NamedThing Nephrolithiasis The presence of calculi (stones) in the kidneys. hp0009lx5z Renal stones|Renal calculi|Kidney stones Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. The resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter. HP:0000102 MSH:D053040|UMLS:C0392525 human_phenotype owl:Class HP:0012210 biolink:NamedThing Abnormal renal morphology Any structural anomaly of the kidney. hp0009lx5z Abnormally shaped kidney|Renal malformation|Structural kidney abnormalities|Abnormal kidney morphology|Structural renal anomalies|Structural anomalies of the renal tract|Kidney structure issue|Kidney malformation peter 2013-03-14T07:41:11Z HP:0004726|HP:0008712|HP:0004735|HP:0000792 Fyler:4512|SNOMEDCT_US:44513007|UMLS:C0266292 human_phenotype owl:Class HP:0025242 biolink:NamedThing Dot-and-blot retinal hemorrhage Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location. hp0009lx5z Round retinal heme|Dot-and-blot retinal haemorrhage 2016-12-17 01:25:52+00:00 Dot-ant-blot Intraretinal hemorrhages take longer to resolve than superficial hemorrhages because they're deeper than flame-shaped hemorrhages. HPO:probinson owl:Class HP:0007262 biolink:NamedThing Symmetric peripheral demyelination A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. hp0009lx5z UMLS:C4024914 human_phenotype owl:Class HP:0011096 biolink:NamedThing Peripheral demyelination A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. hp0009lx5z Demyelination This feature is generally diagnosed on the basis of a sural nerve biopsy. Demyelination is associated with slowed nerve conduction, increased refractoriness, and conduction block. peter 2011-03-28T09:01:02Z HP:0003381|HP:0007282|HP:0006939 UMLS:C0878575 human_phenotype owl:Class HP:0025243 biolink:NamedThing Subretinal hemorrhage Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium. hp0009lx5z Subretinal haemorrhage|Subretinal heme 2016-12-17 01:29:29+00:00 Subretinal hemorrhages are located deep in the retina, displaying a dark coloration with the retinal vessels clearly visible above. Subretinal hemorrhages tend not to be well delineated because of the lack of firm attachments between the neurosensory retina and the retinal pigment epithelium, allowing the blood to spread. HPO:probinson owl:Class HP:0001239 biolink:NamedThing Wrist flexion contracture A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. hp0009lx5z Wrist flexion deformity|Wrist contracture HP:0006049|HP:0006137 SNOMEDCT_US:202275008|UMLS:C0409345 human_phenotype owl:Class HP:0100360 biolink:NamedThing Contractures of the joints of the upper limbs hp0009lx5z doelkens 2010-11-11T04:18:29Z UMLS:C2750635 human_phenotype owl:Class HP:0009603 biolink:NamedThing Deviation of the thumb Displacement of the thumb from its normal position. hp0009lx5z Abnormal thumb placement|Deviated thumb|Displacement of the thumb doelkens 2009-01-29T01:49:57Z HP:0004062 UMLS:C3552414 human_phenotype owl:Class HP:0004097 biolink:NamedThing Deviation of finger Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. hp0009lx5z Deviated fingers|Atypical position of finger|Finger pointing in a different direction than usual HP:0006229 SNOMEDCT_US:203556007|UMLS:C0410740|SNOMEDCT_US:26517000 human_phenotype owl:Class HP:0012360 biolink:NamedThing Decreased fucosylation of O-linked protein glycosylation A reduction of the addition of fucose sugar units to O-linked glycans. hp0009lx5z peter 2013-09-15T10:33:00Z UMLS:C4022931 human_phenotype owl:Class HP:0012359 biolink:NamedThing Abnormal fucosylation of O-linked protein glycosylation An anomaly of the addition of fucose sugar units to O-linked glycans. hp0009lx5z peter 2013-09-15T10:31:07Z UMLS:C4022932 human_phenotype owl:Class HP:0011099 biolink:NamedThing Spastic hemiparesis Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes. hp0009lx5z Spastic hemiplegia peter 2011-06-04T09:10:40Z SNOMEDCT_US:79633009|MSH:D006429|UMLS:C0154694 human_phenotype owl:Class HP:0001269 biolink:NamedThing Hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. hp0009lx5z Weakness of one side of body MSH:D010291|UMLS:C0018989|SNOMEDCT_US:20022000|SNOMEDCT_US:127377003 human_phenotype owl:Class HP:0025451 biolink:NamedThing Testicular adrenal rest tumor Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. hp0009lx5z Testicular adrenal rest tumour 2017-05-04 10:21:37+00:00 HPO:probinson owl:Class HP:0010788 biolink:NamedThing Testicular neoplasm The presence of a neoplasm of the testis. hp0009lx5z Testicular cancer|Testicular tumor|Testicular tumour|Testicular neoplasia sdoelken 2010-05-04T09:48:35Z MSH:D013736|UMLS:C0039590|SNOMEDCT_US:126900000|NCIT:C3262 human_phenotype owl:Class HP:0012868 biolink:NamedThing Abnormal sperm tail morphology A structural abnormality of the sperm tail. hp0009lx5z Sperm tail anomaly The ultrastructure of the mammalian flagellum is highly conserved and is structurally divided into four major parts: the connecting piece, the mid piece, the principal piece, and the end piece. The axoneme extends from the remnant of the centriole attached to the implantation fossa of the nucleus and is the core structure along the length of the sperm tail. Defective sperm flagella are the principal cause of sperm motility disorders. hecht 2014-06-09T10:50:50Z UMLS:C4022699 owl:Class HP:0009246 biolink:NamedThing Aplasia of the distal phalanx of the 5th finger Absence of the distal phalanx of the little (5th) finger. hp0009lx5z Absent outermost little finger bone|Absent outermost pinky finger bone|Absent outermost pinkie finger bone doelkens 2009-01-05T07:27:52Z UMLS:C4024501 human_phenotype owl:Class HP:0009238 biolink:NamedThing Aplasia of the 5th finger Absent 5th (little) finger. hp0009lx5z Absent pinky finger|Absent little finger|Absent pinkie finger doelkens 2009-01-05T07:02:48Z UMLS:C4024508 human_phenotype owl:Class HP:0006535 biolink:NamedThing Recurrent intrapulmonary hemorrhage A recurrent hemorrhage occurring within the lung. hp0009lx5z Recurrent pulmonary hemorrhage|Recurrent bleeding into lungs|Recurrent pulmonary haemorrhage|Recurrent intrapulmonary haemorrhage UMLS:C3805919 human_phenotype owl:Class HP:0040223 biolink:NamedThing Pulmonary hemorrhage Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease. hp0009lx5z Intrapulmonary hemorrhage|Pulmonary haemorrhage|Intrapulmonary haemorrhage UMLS:C4280720 owl:Class HP:0100071 biolink:NamedThing Irregular epiphyses of the 4th toe hp0009lx5z Irregular end part of the 4th toe bone doelkens 2010-06-24T09:59:30Z UMLS:C4022350 human_phenotype owl:Class HP:0010335 biolink:NamedThing Abnormality of the epiphyses of the 4th toe hp0009lx5z Abnormality of the end part of the 4th toe bone doelkens 2009-07-16T11:41:21Z UMLS:C4023897 human_phenotype owl:Class HP:0010147 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux. hp0009lx5z Speckled calcifications in the end part of the outermost bone of the big toe doelkens 2009-05-29T01:22:47Z UMLS:C4024012 human_phenotype owl:Class HP:0010124 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the hallux hp0009lx5z Abnormality of the end part of the outermost bone of the big toe bone doelkens 2009-05-29T01:17:54Z UMLS:C4024035 human_phenotype owl:Class HP:0002583 biolink:NamedThing Colitis Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. hp0009lx5z UMLS:C0009319|SNOMEDCT_US:64226004|MSH:D003092 owl:Class HP:0002037 biolink:NamedThing Inflammation of the large intestine Inflammation, or an inflammatory state in the large intestine. hp0009lx5z Inflammation of the large intestine|Inflammatory bowel disease MSH:D015212|UMLS:C0021390|UMLS:C0578878|SNOMEDCT_US:302168000|SNOMEDCT_US:24526004 owl:Class HP:0000214 biolink:NamedThing Lip telangiectasia Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. hp0009lx5z Labial angioectasias|Lip telangiectases|Labial telangiectasia|Spider veins of the lip|Angioectasias of the lip|Telangiectasia of the lips UMLS:C4280671|UMLS:C1857697|UMLS:C4280670 human_phenotype owl:Class HP:0000228 biolink:NamedThing Oral cavity telangiectasia Presence of telangiectases in the oral cavity. hp0009lx5z Oral cavity teleangiectasia|Angioectasias of the oral cavity|Spider veins of the oral cavity|Angioectasias of the mouth|Spider veins of the mouth UMLS:C4280667|UMLS:C4025877 human_phenotype owl:Class HP:0003070 biolink:NamedThing Elbow ankylosis hp0009lx5z UMLS:C0409477|SNOMEDCT_US:202307002 human_phenotype owl:Class HP:0031013 biolink:NamedThing Ankylosis A reduction of joint mobility resulting from changes involving the articular surfaces. hp0009lx5z 2017-05-18 02:58:48+00:00 Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces. peter owl:Class HP:0005201 biolink:NamedThing Anomalous splenoportal venous system hp0009lx5z UMLS:C4025236 human_phenotype owl:Class HP:0031941 biolink:NamedThing Abnormal portal venous system morphology Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins. hp0009lx5z 2018-07-05 13:39:22+00:00 peter owl:Class HP:0010978 biolink:NamedThing Abnormality of immune system physiology A functional abnormality of the immune system. hp0009lx5z peter 2011-02-07T04:28:55Z UMLS:C4023616 owl:Class HP:0033515 biolink:NamedThing Opioid addiction Addiction to opioids. hp0009lx5z Opioid dependence 2021-01-13 12:25:55+00:00 peter owl:Class HP:0033511 biolink:NamedThing Drug addiction Chronic compulsive drug seeking and continued use despite harmful consequences. hp0009lx5z 2021-01-13 12:11:53+00:00 According to the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), drug addiction may be characterized by manifestations including: (1) The substance is often taken in larger amounts or over a longer period than was intended; (2) A persistent desire or unsuccessful effort to cut down or control use of the substance; (3) substantial time and effort spent to obtain the substance; (4) Craving; (5) Recurrent use of the substance resulting in a failure to fulfill major obligations; (6) Continued use of the substance despite interpersonal problems caused by substance use; (7) Important social, occupational, or recreational activities are given up (8) Recurrent use of the substance even in situations in which it is physically hazardous; (9) Use of the substance despite awareness of its problematic consequences; (10) Tolerance; and (11) Withdrawal symptoms. peter owl:Class HP:0009857 biolink:NamedThing Symphalangism affecting the proximal phalanges of the hand hp0009lx5z Fused innermost hand bones doelkens 2009-03-11T12:16:33Z HP:0009873 UMLS:C4024178 human_phenotype owl:Class HP:0009834 biolink:NamedThing Abnormal proximal phalanx morphology of the hand hp0009lx5z Abnormality of the proximal phalanges of the hand|Abnormality of the innermost finger bones of the hand doelkens 2009-03-11T12:01:39Z UMLS:C4024190 human_phenotype owl:Class HP:0011431 biolink:NamedThing Fetal fifth finger clinodactyly Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637). hp0009lx5z Foetal pinkie finger curvature|Fetal pinkie finger curvature|Fetal little finger curvature|Foetal fifth finger clinodactyly|Foetal little finger curvature|Fetal pinky finger curvature|Foetal pinky finger curvature peter 2012-03-17T07:11:26Z UMLS:C4280326|UMLS:C4023362 human_phenotype owl:Class HP:0011425 biolink:NamedThing Fetal ultrasound soft marker An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. hp0009lx5z Foetal ultrasound soft marker The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (PMID:16100637). peter 2012-03-17T04:26:01Z UMLS:C4023366 human_phenotype owl:Class HP:0009497 biolink:NamedThing Stippling of the epiphyses of the 2nd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger. hp0009lx5z Speckled calcifications in end part of the index finger doelkens 2009-01-16T01:07:16Z UMLS:C4024329 human_phenotype owl:Class HP:0006263 biolink:NamedThing Abnormality of the epiphyses of the 2nd finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger. hp0009lx5z Abnormality of the end part of the index finger bone peter 2008-03-28T03:04:00Z UMLS:C4025073 human_phenotype owl:Class HP:0004911 biolink:NamedThing Episodic metabolic acidosis Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. hp0009lx5z Recurrent episodes of acidosis HP:0005963 UMLS:C1859516 human_phenotype owl:Class HP:0001942 biolink:NamedThing Metabolic acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. hp0009lx5z The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis. HP:0004895|HP:0004907 MSH:D000138|UMLS:C0220981|SNOMEDCT_US:59455009 human_phenotype owl:Class HP:0041173 biolink:NamedThing Fractured metacarpophalangeal joint A partial or complete breakage of the metacarpophalangeal joint. hp0009lx5z bone metacarpophalangeal joint owl:Class HP:0005922 biolink:NamedThing Abnormal hand morphology Any structural anomaly of the hand. hp0009lx5z Abnormal shape of hand This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions. peter 2008-03-27T02:25:00Z HP:0003098 UMLS:C4025109 human_phenotype owl:Class HP:0030407 biolink:NamedThing Pineocytoma A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I). hp0009lx5z SNOMEDCT_US:255045009|UMLS:C0917890|MSH:D010871|SNOMEDCT_US:89096009|NCIT:C6966 owl:Class HP:0030694 biolink:NamedThing Pineal parenchymal cell neoplasm hp0009lx5z SNOMEDCT_US:47598005|UMLS:C0031941|SNOMEDCT_US:359619007|MSH:D010871|SNOMEDCT_US:127026004 owl:Class HP:0005220 biolink:NamedThing Multiple intestinal neurofibromatosis hp0009lx5z UMLS:C4025233 human_phenotype owl:Class HP:0007378 biolink:NamedThing Neoplasm of the gastrointestinal tract A tumor (abnormal growth of tissue) of the gastrointestinal tract. hp0009lx5z Neoplasm of the GI tract|Gastrointestinal tract tumour|Gastrointestinal tract neoplasia|Gastrointestinal tract tumor|Gastrointestinal tract neoplasm|GI tract tumour|GI tract tumor peter 2008-04-01T11:55:00Z UMLS:C0017185|MSH:D005770|NCIT:C3262|SNOMEDCT_US:126768004 human_phenotype owl:Class HP:0025295 biolink:NamedThing Herpetiform Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections. hp0009lx5z 2016-12-18 16:19:13+00:00 HPO:probinson owl:Class HP:0031320 biolink:NamedThing Cardiomyocyte mitochondrial proliferation An abnormal increase in the number of mitochondria per cardiac myocyte. hp0009lx5z 2017-08-27 12:02:57+00:00 peter owl:Class HP:0031331 biolink:NamedThing Abnormal cardiomyocyte morphology Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue. hp0009lx5z Abnormal cardiac muscle cell morphology 2017-08-27 12:50:02+00:00 peter owl:Class HP:0012727 biolink:NamedThing Thoracic aortic aneurysm An abnormal localized widening (dilatation) of the thoracic aorta. hp0009lx5z Dilatation of the thoracic aorta Aneurysm is considered a severe form of dilatation. peter 2014-03-23T02:22:20Z SNOMEDCT_US:433068007|MSH:D017545|UMLS:C0162872 human_phenotype owl:Class HP:0004942 biolink:NamedThing Aortic aneurysm Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. hp0009lx5z Aortic dilatation|Bulge in wall of large artery that carries blood away from heart Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym. HP:0001724 SNOMEDCT_US:67362008|Fyler:2301|MSH:D001014|UMLS:C0003486|Fyler:2708 owl:Class HP:0009654 biolink:NamedThing Osteolytic defect of thumb phalanx Dissolution or degeneration of bone tissue of one or more phalanges of the thumb. hp0009lx5z Osteolytic defects of the phalanges of the thumb Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). doelkens 2009-01-29T05:29:26Z UMLS:C4020905 human_phenotype owl:Class HP:0009771 biolink:NamedThing Osteolytic defects of the phalanges of the hand Dissolution or degeneration of bone tissue of the phalanges of the hand. hp0009lx5z Acroosteolysis|Breakdown of small bones of fingers|Acro-osteolysis doelkens 2009-02-02T11:38:04Z HP:0001179 SNOMEDCT_US:27201004|UMLS:C0917990|MSH:D030981|SNOMEDCT_US:63122002 human_phenotype owl:Class HP:0032150 biolink:NamedThing Paroxysmal rectal pain Excruciating burning pain in the rectal area that may be triggered by defecation. hp0009lx5z 2018-12-02 12:29:59+00:00 peter owl:Class HP:0032148 biolink:NamedThing Episodic pain Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals. hp0009lx5z 2018-12-02 12:21:16+00:00 peter owl:Class HP:0003193 biolink:NamedThing Allergic rhinitis It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. hp0009lx5z Hayfever|Nasal allergies|Hay fever MSH:D065631|UMLS:C2607914|UMLS:C0847614|SNOMEDCT_US:61582004 human_phenotype owl:Class HP:0012384 biolink:NamedThing Rhinitis Inflammation of the nasal mucosa with nasal congestion. hp0009lx5z Nasal inflammation hecht 2013-10-19T05:37:08Z SNOMEDCT_US:70076002|MSH:D012220|UMLS:C2718128|UMLS:C0035455 human_phenotype owl:Class HP:0012893 biolink:NamedThing Neck muscle hypertrophy Muscle hypertrophy affecting the muscles of the neck. hp0009lx5z Overgrowth of neck muscles|Hyperplasia of neck muscles|Hypertrophy of cervical muscles|Large neck muscles|Increased size of neck muscles peter 2014-06-23T10:59:17Z UMLS:C4280306|UMLS:C4022690 human_phenotype owl:Class HP:0011006 biolink:NamedThing Abnormal morphology of the musculature of the neck An abnormality of the neck musculature. hp0009lx5z Abnormality of the musculature of the neck|Neck muscle issue|Abnormality of cervical musculature peter 2011-02-19T11:15:01Z UMLS:C4023601 human_phenotype owl:Class HP:0033247 biolink:NamedThing Pulmonary amyloidosis Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. hp0009lx5z 2020-11-25 14:09:03+00:00 peter owl:Class HP:0006530 biolink:NamedThing Abnormal pulmonary interstitial morphology Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. hp0009lx5z Interstitial pulmonary disease|Abnormal lung parenchyma morphology|Interstitial lung disease|Abnormality in area between air sacs in lung HP:0006513|HP:0006547 UMLS:C0206062|SNOMEDCT_US:233703007|MSH:D017563 owl:Class HP:0003572 biolink:NamedThing Low plasma citrulline A decreased concentration of citrulline in the blood. hp0009lx5z UMLS:C1839532 human_phenotype owl:Class HP:0011965 biolink:NamedThing Abnormal circulating citrulline concentration Any deviation from the normal concentration of citrulline in the blood circulation. hp0009lx5z Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle. peter 2012-07-18T08:21:59Z UMLS:C4023103 human_phenotype owl:Class HP:0011581 biolink:NamedThing Double outlet left ventricle A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. hp0009lx5z peter 2012-04-08T12:37:48Z Fyler:650|ICD-10:Q20.2|UMLS:C0265809|SNOMEDCT_US:7368005|Fyler:0650 human_phenotype owl:Class HP:0008625 biolink:NamedThing Severe sensorineural hearing impairment A severe form of sensorineural hearing impairment. hp0009lx5z Severe sensorineural deafness|Severe sensorineural hearing loss HP:0008534|HP:0008574 UMLS:C4021533 human_phenotype owl:Class HP:0012714 biolink:NamedThing Severe hearing impairment A severe form of hearing impairment. hp0009lx5z Severe deafness|Severe hearing loss|Severe hearing impairment peter 2014-03-23T12:37:33Z UMLS:C3874334|SNOMEDCT_US:3561000119106 human_phenotype owl:Class HP:0100321 biolink:NamedThing Abnormal dentate nucleus morphology An abnormality of the dentate nucleus. hp0009lx5z Abnormality of the dentate nucleus doelkens 2010-08-10T03:56:48Z UMLS:C4022148 owl:Class HP:0001317 biolink:NamedThing Abnormal cerebellum morphology Any structural abnormality of the cerebellum. hp0009lx5z Abnormality of the cerebellum|Cerebellar anomaly|Cerebellar signs|Cerebellar abnormality|Cerebellar abnormalities A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors. UMLS:C0742038|UMLS:C1866129 owl:Class HP:0010666 biolink:NamedThing Hypoplasia of the anterior nasal spine Underdevelopment of the anterior nasal spine of maxilla. hp0009lx5z Small anterior nasal spine|Deficiency of anterior nasal spine|Decreased size of anterior nasal spine|Hypotrophic anterior nasal spine|Decreased length of anterior nasal spine|Underdevelopment of anterior nasal spine|Decreased projection of anterior nasal spine peter 2010-02-26T08:10:11Z UMLS:C4280372|UMLS:C4280373|UMLS:C4023751 human_phenotype owl:Class HP:0000327 biolink:NamedThing Hypoplasia of the maxilla Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. hp0009lx5z Maxillary retrognathia|Upper jaw deficiency|Micromaxilla|Small upper jaw|Deficiency of upper jaw bones|Hypotrophic maxilla|Small upper jaw bones|Maxillary deficiency|Small maxilla|Upper jaw retrusion|Decreased projection of maxilla|Decreased size of maxilla|Hypotrophic upper jaw bones|Maxillary retrusion|Maxillary micrognathia|Decreased size of upper jaw|Decreased projection of upper jaw|Retrognathia of upper jaw|Retrusion of upper jaw bones|Hypoplasia of upper jaw bones|Maxillary hypoplasia|Hypoplastic maxillary bones HP:0004644 UMLS:C4280642|UMLS:C4280640|UMLS:C4082243|UMLS:C0240310|UMLS:C4280641|UMLS:C4280643 human_phenotype owl:Class HP:0010333 biolink:NamedThing Flexion contracture of 3rd toe One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively. hp0009lx5z Joint contractures of the 3rd toe doelkens 2009-07-16T11:40:52Z UMLS:C4021294 human_phenotype owl:Class HP:0005830 biolink:NamedThing Flexion contracture of toe One or more bent (flexed) toe joints that cannot be straightened actively or passively. hp0009lx5z Toe contractures|Contractures involving the toes|Contractures of the toes HP:0008367|HP:0200027|HP:0001860|HP:0008128 UMLS:C1406835 human_phenotype owl:Class HP:0410362 biolink:NamedThing Decreased O-mannosyl glycans on alpha-dystroglycan Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix. hp0009lx5z Reduced O-mannosyl glycans on alpha-dystroglycan owl:Class HP:0012358 biolink:NamedThing Abnormal protein O-linked glycosylation An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue. hp0009lx5z peter 2013-09-15T10:26:49Z UMLS:C4022933 human_phenotype owl:Class HP:0009608 biolink:NamedThing Complete duplication of proximal phalanx of the thumb Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Complete duplication of the innermost bone of the thumb doelkens 2009-01-29T03:32:28Z HP:0004078 UMLS:C4024273 human_phenotype owl:Class HP:0009613 biolink:NamedThing Duplication of the proximal phalanx of the thumb Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Notched innermost bone of thumb|Partial/complete duplication of the proximal phalanx of the thumb doelkens 2009-01-29T03:59:56Z UMLS:C4021424 human_phenotype owl:Class HP:0002027 biolink:NamedThing Abdominal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. hp0009lx5z Abdominal discomfort|Abdominal pain|Pain in stomach|Upset stomach|Stomach pain|Gastrointestinal pain|Gastro pain Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. SNOMEDCT_US:21522001|MSH:D015746|MEDDRA:10000081|UMLS:C0000737 human_phenotype owl:Class HP:0008969 biolink:NamedThing Leg muscle stiffness hp0009lx5z UMLS:C4024610 human_phenotype owl:Class HP:0001437 biolink:NamedThing Abnormality of the musculature of the lower limbs hp0009lx5z peter 2008-04-07T10:21:00Z UMLS:C4025784 human_phenotype owl:Class HP:0011182 biolink:NamedThing Interictal epileptiform activity Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. hp0009lx5z Epileptiform EEG discharges Epileptiform EEG discharges include small sharp spikes (SSSs), wicket spikes, 14- and 6-Hz positive spikes, phantom spike and waves, psychomotor variant, subclinical rhythmic EEG discharges of adults (SREDA), and midline theta rhythm. hecht 2011-11-19T10:32:25Z UMLS:C4023491 human_phenotype owl:Class HP:0025373 biolink:NamedThing Interictal EEG abnormality Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. hp0009lx5z 2017-03-15 13:25:46+00:00 HPO:probinson owl:Class HP:0030759 biolink:NamedThing Adipocyte hypertrophy An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy. hp0009lx5z Fat cell hypertrophy UMLS:C4280781 owl:Class HP:0009124 biolink:NamedThing Abnormal adipose tissue morphology An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. hp0009lx5z Abnormality of fat tissue|Abnormality of adipose tissue|Abnormality of fatty tissue peter 2008-04-05T11:40:00Z UMLS:C4021524 human_phenotype owl:Class HP:0000580 biolink:NamedThing Pigmentary retinopathy An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. hp0009lx5z Retinal pigmentary clumping|Retinal pigment clumping|Pigmentary retinal deposits|Retinal pigmentary degeneration HP:0007869|HP:0001146|HP:0007821|HP:0007961|HP:0008010|HP:0007852|HP:0007702|HP:0007934 SNOMEDCT_US:28835009|UMLS:C0035334|MSH:D012174 owl:Class HP:0007703 biolink:NamedThing Abnormality of retinal pigmentation hp0009lx5z Abnormal retinal pigmentation|Retinal pigmentary anomaly|Abnormality of RPE|Abnormality of the retinal pigment epithelium|Abnormality of retinal pigment epithelium HP:0008051|HP:0007743|HP:0007741 UMLS:C1862475|SNOMEDCT_US:421689001|UMLS:C1720508 human_phenotype owl:Class HP:0033226 biolink:NamedThing Bowman capsular hyaline drops An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. hp0009lx5z Capsular hyaline drops within Bowman's capsule 2020-10-30 11:00:07+00:00 peter owl:Class HP:0031264 biolink:NamedThing Abnormal Bowman capsule morphology A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. hp0009lx5z Abnormal renal glomerular capsule morphology|Abnormal morphology of Bowman's capsule|Abnormal morphology of Bowman capsule 2017-08-12 18:34:59+00:00 peter owl:Class HP:0040070 biolink:NamedThing Abnormal upper limb bone morphology hp0009lx5z Abnormal shape of bones of the upper limbs|Abnormality of upper limb bone|Abnormal morphology of bones of the upper limbs HPO:skoehler UMLS:C4022458|UMLS:C4022454 owl:Class HP:0002817 biolink:NamedThing Abnormality of the upper limb An abnormality of the arm. hp0009lx5z Abnormality of the upper limb|Abnormality of the arm HP:0003838 UMLS:C4020900 human_phenotype owl:Class HP:0033224 biolink:NamedThing Glomerular parietal epithelial cell hyperplasia Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. hp0009lx5z Hyperplasia of the glomerular parietal epithelial cell 2020-10-30 10:27:18+00:00 peter owl:Class HP:0033223 biolink:NamedThing Abnormal glomerular parietal epithelial cell morphology Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. hp0009lx5z 2020-10-30 10:23:28+00:00 peter owl:Class HP:0200136 biolink:NamedThing Oral-pharyngeal dysphagia hp0009lx5z Oropharyngeal dysphagia|Oral pharyngeal dysphagia sebastiankohler 2013-06-12T11:05:35Z UMLS:C0267071|SNOMEDCT_US:71457002|MSH:D003680 human_phenotype owl:Class HP:0002015 biolink:NamedThing Dysphagia Difficulty in swallowing. hp0009lx5z Swallowing difficulties|Difficulty swallowing|Poor swallowing|Swallowing difficulty|Deglutition disorder HP:0002569 UMLS:C0011168|MSH:D003680|MEDDRA:10013950|SNOMEDCT_US:40739000|SNOMEDCT_US:288939007 human_phenotype owl:Class HP:0010168 biolink:NamedThing Ivory epiphyses of the toes hp0009lx5z Increased bone density of end part of the toes doelkens 2009-05-29T01:34:06Z UMLS:C4023991 human_phenotype owl:Class HP:0001141 biolink:NamedThing Severely reduced visual acuity Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation). hp0009lx5z Severe visual loss|Severe visual impairment|Severe reduction in visual acuity|Severe vision loss|Severely impaired vision|Marked vision impairment HP:0008023|HP:0007951|HP:0007640|HP:0007842 SNOMEDCT_US:397541004|UMLS:C1301509 owl:Class HP:0007663 biolink:NamedThing Reduced visual acuity hp0009lx5z Decreased clarity of vision|Decreased visual acuity|Decreased central vision|Poor visual acuity HP:0007693|HP:0008008|HP:0001091|HP:0007739|HP:0007969 SNOMEDCT_US:13164000|UMLS:C0234632 owl:Class HP:0030727 biolink:NamedThing Intracranial neurenteric cyst A neurenteric cyst located within the skull. hp0009lx5z UMLS:C4280680 owl:Class HP:0030537 biolink:NamedThing Unaided visual acuity 0.2 LogMAR hp0009lx5z UMLS:C4073011 owl:Class HP:0041153 biolink:NamedThing Fractured ankle A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot). hp0009lx5z bone ankle joint owl:Class HP:0100491 biolink:NamedThing Abnormality of lower limb joint hp0009lx5z Abnormality of the joints of the lower limbs|Abnormality of lower limb joint doelkens 2010-12-14T10:58:11Z HP:0100239 UMLS:C4020971 human_phenotype owl:Class HP:0040188 biolink:NamedThing Osteochondrosis Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification. hp0009lx5z HPO:skoehler UMLS:C0029429|SNOMEDCT_US:19579005|MSH:D055034 owl:Class HP:0100323 biolink:NamedThing Juvenile aseptic necrosis Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers. hp0009lx5z Aseptic epiphyseal necrosis Causes may be rapid growth, heredity, trauma or overuse and anatomic conformation. doelkens 2010-08-10T04:02:42Z UMLS:C4020710|UMLS:C4022146 human_phenotype owl:Class HP:0002103 biolink:NamedThing Abnormal pleura morphology An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. hp0009lx5z Abnormality of the pleura UMLS:C4025726 human_phenotype owl:Class HP:0000152 biolink:NamedThing Abnormality of head or neck An abnormality of head and neck. hp0009lx5z Abnormality of head or neck|Head and neck abnormality UMLS:C4021817 human_phenotype owl:Class HP:0032125 biolink:NamedThing Increased proportion of unswitched memory B cells An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells. hp0009lx5z Increased proportion of non-class-switched memory B cells|Elevated proportion of unswitched memory B cells 2018-11-22 12:52:52+00:00 peter owl:Class HP:0032124 biolink:NamedThing Abnormal proportion of unswitched memory B cells A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells. hp0009lx5z Abnormal proportion of non-class-switched memory B cells 2018-11-22 12:51:44+00:00 peter owl:Class HP:0032802 biolink:NamedThing Focal impaired awareness cognitive seizure with dyscalculia/acalculia A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0032691 biolink:NamedThing Focal cognitive seizure with dyscalculia/acalculia A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation. hp0009lx5z Dyscalculia / acalculia is difficulty completing or understanding mathematical calculation. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. peter owl:Class HP:0010598 biolink:NamedThing Abnormality of the proximal humeral epiphysis Any abnormality of the proximal epiphysis of the humerus. hp0009lx5z Abnormality of the end part of the innermost long bone in upper arm sandra1 2009-10-22T06:40:29Z UMLS:C4023775 human_phenotype owl:Class HP:0003891 biolink:NamedThing Abnormality of the humeral epiphysis An anomaly of the humeral epiphysis. hp0009lx5z Abnormality of the humeral epiphyses|Abnormality of end part of the long bone of the upper arm UMLS:C4021714 human_phenotype owl:Class HP:0007058 biolink:NamedThing Generalized cerebral atrophy/hypoplasia Generalized atrophy or hypoplasia of the cerebrum. hp0009lx5z Generalised cerebral degeneration/underdevelopment|Generalized cerebral degeneration/underdevelopment|Generalised cerebral atrophy/hypoplasia UMLS:C4024945 human_phenotype owl:Class HP:0002059 biolink:NamedThing Cerebral atrophy Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. hp0009lx5z Degeneration of cerebrum|Supratentorial atrophy Atrophy may be progressive over time. HP:0002422|HP:0006890 UMLS:C0154671|SNOMEDCT_US:278849000|SNOMEDCT_US:52522001|SNOMEDCT_US:418143002|UMLS:C4020860|UMLS:C0235946 human_phenotype owl:Class HP:0003976 biolink:NamedThing Constricted radius hp0009lx5z UMLS:C4025468 human_phenotype owl:Class HP:0045009 biolink:NamedThing Abnormal morphology of the radius hp0009lx5z HPO:skoehler UMLS:C4022401 owl:Class HP:0025555 biolink:NamedThing Periungual teleangiectasia Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails. hp0009lx5z 2017-07-09 13:50:16+00:00 HPO:probinson owl:Class HP:0000051 biolink:NamedThing Perineal hypospadias Hypospadias with location of the urethral meatus in the perineal region. hp0009lx5z SNOMEDCT_US:204890004|UMLS:C0452148 human_phenotype owl:Class HP:0000047 biolink:NamedThing Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. hp0009lx5z Hypospadia UMLS:C1691215|SNOMEDCT_US:204888000|Fyler:4504 human_phenotype owl:Class HP:0032102 biolink:NamedThing Wilson sign Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia. hp0009lx5z 2018-11-04 22:45:32+00:00 Wilson sign may be indicative of medial femoral osteochondritis dissecans. Wilson postulated that impingement of the tibial eminence on the osteochondritic lesion caused pain and a resultant compensatory lateral rotation during gait. peter owl:Class HP:0003390 biolink:NamedThing Sensory axonal neuropathy An axonal neuropathy of peripheral sensory nerves. hp0009lx5z Axonal sensory neuropathy|Peripheral sensory axonal neuropathy HP:0007345|HP:0007248|HP:0006883 UMLS:C1842587|UMLS:C1970883 owl:Class HP:0000763 biolink:NamedThing Sensory neuropathy Peripheral neuropathy affecting the sensory nerves. hp0009lx5z Damage to nerves that sense feeling|Peripheral sensory neuropathy HP:0006815|HP:0007043|HP:0007142|HP:0003410 SNOMEDCT_US:95662005|UMLS:C0151313 owl:Class HP:0000598 biolink:NamedThing Abnormality of the ear An abnormality of the ear. hp0009lx5z Ear anomaly|Abnormality of the ear Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. SNOMEDCT_US:275259005|UMLS:C0266589 human_phenotype owl:Class HP:0000118 biolink:NamedThing Phenotypic abnormality A phenotypic abnormality. hp0009lx5z Organ abnormality This is the root of the phenotypic abnormality subontology of the HPO. UMLS:C4021819 human_phenotype owl:Class HP:0012409 biolink:NamedThing Cortical nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). hp0009lx5z peter 2013-11-10T11:03:33Z UMLS:C0403476|SNOMEDCT_US:236446001 human_phenotype owl:Class HP:0000121 biolink:NamedThing Nephrocalcinosis Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. hp0009lx5z Too much calcium deposited in kidneys|Increased calcium level in kidney Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. UMLS:C0027709|MSH:D009397|SNOMEDCT_US:48638002|UMLS:C4280679 human_phenotype owl:Class HP:0031060 biolink:NamedThing Impaired ability to dress oneself This applies to an individual who needs help with dressing or needs to be completely dressed. hp0009lx5z 2017-05-28 22:21:14+00:00 peter owl:Class HP:0500114 biolink:NamedThing Abnormal stool urobilinogen concentration Abnormal concentration of urobilinogen present in the stool. hp0009lx5z 2018-07-20 14:59:44+00:00 owl:Class HP:0031685 biolink:NamedThing Abnormal stool composition hp0009lx5z Abnormal feces composition|Abnormal faeces composition 2017-12-17 21:04:26+00:00 peter owl:Class HP:0100450 biolink:NamedThing Curved distal phalanx of the 4th toe A deviation from the normal straight form of the distal phalanx of the fourth toe. hp0009lx5z Curved outermost bone of the 4th toe UMLS:C4022077 human_phenotype owl:Class HP:0010380 biolink:NamedThing Abnormality of the distal phalanx of the 4th toe hp0009lx5z Abnormality of the outermost 4th toe bone doelkens 2009-07-16T11:51:46Z UMLS:C4023870 human_phenotype owl:Class HP:0009643 biolink:NamedThing Bullet-shaped distal phalanx of the thumb Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected. hp0009lx5z Bullet-shaped outermost bone of the thumb doelkens 2009-01-29T05:19:33Z UMLS:C4024260 human_phenotype owl:Class HP:0009837 biolink:NamedThing Bullet-shaped distal phalanges of the hand Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped outermost finger bone of the hand doelkens 2009-03-11T12:10:11Z HP:0009860 UMLS:C4024189 human_phenotype owl:Class HP:0007586 biolink:NamedThing Telangiectases producing 'marbled' skin hp0009lx5z UMLS:C4024839 human_phenotype owl:Class HP:0010528 biolink:NamedThing Prosopagnosia Inability to recognize faces of familiar persons. hp0009lx5z Face blindness|Facial agnosia peter 2009-09-20T11:45:49Z UMLS:C0234512|MSH:D020238|SNOMEDCT_US:18358003 human_phenotype owl:Class HP:0010524 biolink:NamedThing Agnosia Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. hp0009lx5z peter 2009-09-20T11:33:03Z SNOMEDCT_US:42341009|MSH:D000377|UMLS:C0001816 human_phenotype owl:Class HP:0011911 biolink:NamedThing Abnormality of metacarpophalangeal joint An anomaly of a metacarpophalangeal joint. hp0009lx5z Abnormality of the knuckle peter 2012-06-03T11:03:36Z UMLS:C4023132 human_phenotype owl:Class HP:0001163 biolink:NamedThing Abnormality of the metacarpal bones An abnormality of the metacarpal bones. hp0009lx5z Anomaly of the metacarpal bones|Abnormality of the long bone of hand UMLS:C4021785 human_phenotype owl:Class HP:0006979 biolink:NamedThing Sleep-wake cycle disturbance Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake. hp0009lx5z Sleep-wake cycle disturbance UMLS:C1833362 human_phenotype owl:Class HP:0002360 biolink:NamedThing Sleep disturbance An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. hp0009lx5z Difficulty sleeping|Sleep dysfunction|Trouble sleeping|Sleep disturbances SNOMEDCT_US:53888004|UMLS:C0037317 human_phenotype owl:Class HP:0008819 biolink:NamedThing Narrow femoral neck An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). hp0009lx5z Narrow neck of thigh bone|Narrow femoral necks UMLS:C1863739 human_phenotype owl:Class HP:0003367 biolink:NamedThing Abnormal femoral neck morphology An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). hp0009lx5z Abnormal neck of thigh bone|Abnormality of the femoral neck UMLS:C4025621 owl:Class HP:0025307 biolink:NamedThing Acute emergence over hours Acute appearance of disease manifestations in a period of hours. hp0009lx5z 2016-12-21 01:01:25+00:00 HPO:probinson owl:Class HP:0011009 biolink:NamedThing Acute Sudden appearance of disease manifestations over a short period of time. hp0009lx5z Acute onset The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days. peter 2011-02-20T10:23:18Z UMLS:C0205178|SNOMEDCT_US:272118002 owl:Class HP:0009037 biolink:NamedThing Segmental spinal muscular atrophy hp0009lx5z UMLS:C1866774|MSH:C566670 human_phenotype owl:Class HP:0000324 biolink:NamedThing Facial asymmetry An abnormal difference between the left and right sides of the face. hp0009lx5z Uneven sides of face|Unsymmetrical face|Asymmetric facies|Crooked face|Asymmetry of face|Facial asymmetry|Unbalanced face|Unequal sides of face|Uneven face|Asymmetry of right and left side of face HP:0003775 UMLS:C1306710|MSH:D005146|SNOMEDCT_US:15253005 human_phenotype owl:Class HP:0410338 biolink:NamedThing Plant product allergy Hypersensitivity in form of an adverse immune reaction against plant products. hp0009lx5z IgE-mediated plant product allergy|Immunoglobulin E-mediated plant product allergy|Allergy to plant products|Plant product allergy owl:Class HP:0000632 biolink:NamedThing Lacrimation abnormality Abnormality of tear production. hp0009lx5z Abnormality of tear production HP:0000521 UMLS:C4021801 human_phenotype owl:Class HP:0012822 biolink:NamedThing Bilateral vocal cord paresis Decreased strength of the vocal fold on both sides. hp0009lx5z hecht 2014-05-28T09:25:43Z UMLS:C0751574|MSH:D014826 human_phenotype owl:Class HP:0001604 biolink:NamedThing Vocal cord paresis Decreased strength of the vocal folds. hp0009lx5z Vocal cord paresis in severe cases|Hoarse voice due to vocal cord paresis|Weakness of the vocal cords Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat. HP:0001603|HP:0001616|HP:0008745 UMLS:C1853729|UMLS:C0751576|UMLS:C1843187|SNOMEDCT_US:445424004|MSH:D014826|UMLS:C1832690|SNOMEDCT_US:302912005 human_phenotype owl:Class HP:0100950 biolink:NamedThing Decreased 3-hydroxyacyl-CoA dehydrogenase level hp0009lx5z Long chain 3 hydroxyacyl coA dehydrogenase deficiency|Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency|Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Previously, 3-alpha-hydroxyacyl-CoA dehydrogenase was referred to as short-chain 3-alpha-hydroxyacyl-CoA dehydrogenase as well as medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase. doelkens 2011-12-02T04:33:23Z SNOMEDCT_US:237999008|MSH:C566945|UMLS:C1969443 human_phenotype owl:Class HP:0002867 biolink:NamedThing Abnormal ilium morphology An abnormality of the ilium, the largest and uppermost bone of the pelvis. hp0009lx5z Iliac abnormalities|Abnormality of the ilium UMLS:C4021746 owl:Class HP:0003272 biolink:NamedThing Abnormal hip bone morphology An abnormality of the hip bone. hp0009lx5z Abnormality of the hips|Abnormality of the hip bone The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle. UMLS:C4021735 owl:Class HP:0008001 biolink:NamedThing Foveal hyperpigmentation Increased amount of pigmentation in the fovea centralis. hp0009lx5z UMLS:C3809301 human_phenotype owl:Class HP:0030493 biolink:NamedThing Abnormality of foveal pigmentation An anomaly of the pigmentation in the fovea centralis. hp0009lx5z UMLS:C4072981 owl:Class HP:0009847 biolink:NamedThing Osteolytic defects of the middle phalanges of the hand hp0009lx5z doelkens 2009-03-11T12:15:55Z HP:0009866 UMLS:C4024185 human_phenotype owl:Class HP:0009833 biolink:NamedThing Abnormal middle phalanx morphology of the hand An anomaly of middle phalanx of finger. hp0009lx5z Abnormality of the middle phalanges of the hand|Abnormality of the middle finger bones of the hand doelkens 2009-03-11T12:01:39Z UMLS:C4024191 human_phenotype owl:Class HP:0008007 biolink:NamedThing Primary congenital glaucoma hp0009lx5z UMLS:C1533041|SNOMEDCT_US:415176004 human_phenotype owl:Class HP:0001087 biolink:NamedThing Developmental glaucoma Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. hp0009lx5z Pediatric glaucoma|Infantile glaucoma|Childhood glaucoma|Paediatric glaucoma UMLS:C0020302|MSH:D006871|SNOMEDCT_US:413728006|SNOMEDCT_US:204113001 human_phenotype owl:Class HP:0010188 biolink:NamedThing Curved distal toe phalanx A deviation from the normal straight form of one or more distal toe phalanges. hp0009lx5z Curved outermost bone of the toe|Curved distal phalanges of the toes doelkens 2009-05-29T01:52:41Z UMLS:C4021324 human_phenotype owl:Class HP:0010182 biolink:NamedThing Abnormality of the distal phalanges of the toes hp0009lx5z Abnormality of the outermost bone of the toes doelkens 2009-05-29T01:51:38Z UMLS:C4023982 human_phenotype owl:Class HP:0006378 biolink:NamedThing Osteolysis of patellae hp0009lx5z UMLS:C4025051 human_phenotype owl:Class HP:0003045 biolink:NamedThing Abnormal patella morphology Abnormality of the patella (knee cap). hp0009lx5z Abnormality of the patella|Abnormal kneecap|Patellar abnormality UMLS:C4021743 human_phenotype owl:Class HP:0010390 biolink:NamedThing Triangular shaped phalanges of the 5th toe hp0009lx5z Triangular shaped pinkie toe bone|Triangular shaped pinky toe bone|Triangular shaped little toe bone doelkens 2009-07-16T11:52:18Z UMLS:C4023863 human_phenotype owl:Class HP:0010180 biolink:NamedThing Triangular shaped phalanges of the toes hp0009lx5z Triangular shaped toe bones doelkens 2009-05-29T01:39:26Z UMLS:C4023983 human_phenotype owl:Class HP:0040186 biolink:NamedThing Maculopapular exanthema A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. hp0009lx5z ORCID:0000-0002-5316-1399 SNOMEDCT_US:247471006|UMLS:C0423791|SNOMEDCT_US:47725002 owl:Class HP:4000054 biolink:NamedThing Exanthem A widespread rash. hp0009lx5z 2021-05-02 21:41:36+00:00 An exanthem may be caused by an infection or represent a reaction to a toxin or an immune response and may be accompanied by symptoms such as fever, malaise and headache. robinp owl:Class HP:0009457 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger hp0009lx5z Absent/underdeveloped innermost bone of middle finger|Absent/small innermost bone of middle finger doelkens 2009-01-14T04:34:45Z UMLS:C4024348 human_phenotype owl:Class HP:0009447 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 3rd finger hp0009lx5z Hypoplastic middle finger phalanges|Short middle finger phalanges|Absent/small middle finger bone|Absent/underdeveloped middle finger bone|Small middle finger phalanges doelkens 2009-01-14T04:09:01Z HP:0009449|HP:0004164|HP:0004158|HP:0004165|HP:0004156 UMLS:C4024356 human_phenotype owl:Class HP:0001537 biolink:NamedThing Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. hp0009lx5z Umbilical hernias UMLS:C0019322|SNOMEDCT_US:396347007|Fyler:4445 human_phenotype owl:Class HP:0004299 biolink:NamedThing Hernia of the abdominal wall The presence of a hernia in the abdominal wall. hp0009lx5z Herniated abdominal wall A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. peter 2008-02-20T11:42:00Z UMLS:C1442978|SNOMEDCT_US:128545000|Fyler:4414 human_phenotype owl:Class HP:0002584 biolink:NamedThing Intestinal bleeding Bleeding from the intestines. hp0009lx5z Intestinal hemorrhage|Intestinal haemorrhage|Intestinal bleeding UMLS:C0267373|SNOMEDCT_US:712510007 human_phenotype owl:Class HP:0002239 biolink:NamedThing Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract. hp0009lx5z Gastrointestinal haemorrhage|Gastrointestinal bleeding|GI hemorrhage|GI haemorrhage MSH:D006471|SNOMEDCT_US:74474003|UMLS:C0017181 human_phenotype owl:Class HP:0032175 biolink:NamedThing Signet ring sign This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging. hp0009lx5z 2019-01-06 11:17:24+00:00 See Fig 66 of PMID:18195376. peter owl:Class HP:0033775 biolink:NamedThing Pulmonary imaging sign An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images. hp0009lx5z 2021-05-04 14:47:16+00:00 peter owl:Class HP:0004524 biolink:NamedThing Temporal hypotrichosis Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). hp0009lx5z Reduced hair growth in temporal region UMLS:C4025316 human_phenotype owl:Class HP:0011361 biolink:NamedThing Congenital abnormal hair pattern A congenital abnormality of the distribution of hair growth. hp0009lx5z Abnormal hair pattern since birth peter 2012-03-01T08:39:51Z UMLS:C4023398 human_phenotype owl:Class HP:0010515 biolink:NamedThing Aplasia/Hypoplasia of the thymus Absence or underdevelopment of the thymus. hp0009lx5z Thymic hypoplasia or aplasia|Absent/underdeveloped thymus|Absent/small thymus peter 2009-09-19T04:21:24Z UMLS:C3278004|UMLS:C4023796 human_phenotype owl:Class HP:0000777 biolink:NamedThing Abnormality of the thymus Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. hp0009lx5z Abnormality of the thymus SNOMEDCT_US:93297002|UMLS:C0262650|UMLS:C0685891 owl:Class HP:0032255 biolink:NamedThing Opportunistic fungal infection An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system. hp0009lx5z 2019-01-27 18:09:57+00:00 peter owl:Class HP:0031690 biolink:NamedThing Opportunistic infection An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. hp0009lx5z 2017-12-17 22:11:49+00:00 Opportunistic infection are infections that occur more often or are more severe in people with weakened immune systems than in those with normal immune system functioning. peter owl:Class HP:0500145 biolink:NamedThing Hypohistidinemia A decreased amount of histidine in the blood. hp0009lx5z Decreased blood histidine concentration|Low blood histidine levels 2018-10-04 13:28:34+00:00 owl:Class HP:0010904 biolink:NamedThing Abnormal circulating histidine concentration An abnormality of a histidine metabolic process. hp0009lx5z Abnormality of histidine metabolism peter 2010-12-08T07:13:56Z UMLS:C4023662 human_phenotype owl:Class HP:0025630 biolink:NamedThing Argininosuccinic aciduria Increased amount of argininosuccinate in the urine. hp0009lx5z 2019-04-09 00:55:15+00:00 rgininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan disease and neurocognitive impairment. HPO:probinson owl:Class HP:0033097 biolink:NamedThing Increased urine proteinogenic amino acid derivative level An elevated urine level of a compound that is derived from an amino acid. hp0009lx5z peter owl:Class HP:0009692 biolink:NamedThing Ivory epiphysis of the thumb Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Ivory epiphyses of the thumb|Increased bone density of end part of the thumb doelkens 2009-01-30T09:20:16Z UMLS:C4021403 human_phenotype owl:Class HP:0040203 biolink:NamedThing Abnormal CSF neopterin level Abnormal concentration of neopterin in the cerebrospinal fluid (CSF). hp0009lx5z PhenoTips:CHum UMLS:C4073151 owl:Class HP:0025454 biolink:NamedThing Abnormal CSF metabolite level Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid. hp0009lx5z 2017-05-05 10:24:32+00:00 HPO:probinson owl:Class HP:0012503 biolink:NamedThing Abnormality of the pituitary gland An anomaly of the pituitary gland. hp0009lx5z disorder of pituitary gland peter 2013-11-30T09:34:21Z SNOMEDCT_US:399244003|MSH:D010900|UMLS:C0032002 human_phenotype owl:Class HP:0000864 biolink:NamedThing Abnormality of the hypothalamus-pituitary axis Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. hp0009lx5z HP:0000838|HP:0000844 UMLS:C4025819 human_phenotype owl:Class HP:0005272 biolink:NamedThing Prominent nasolabial fold Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). hp0009lx5z Deep nasolabial fold|Prominent laugh lines|Deep smile lines|Deep nasolabial crease|Nasolabial crease, prominent|Prominent smile lines|Prominent nasolabial groove|Deep laugh lines|Deep nasolabial groove UMLS:C1866487 human_phenotype owl:Class HP:0005289 biolink:NamedThing Abnormality of the nasolabial region hp0009lx5z Deformity of the nasolabial region|Anomaly of the nasolabial region|Malformation of the nasolabial region peter 2008-03-26T06:07:00Z UMLS:C4025223 human_phenotype owl:Class HP:0001650 biolink:NamedThing Aortic valve stenosis The presence of a stenosis (narrowing) of the aortic valve. hp0009lx5z Valvular aortic stenosis|Aortic stenosis|Narrowing of aortic valve Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. HP:0005140 SNOMEDCT_US:60573004|UMLS:C0003507|Fyler:1411|MSH:D001024 owl:Class HP:0031652 biolink:NamedThing Abnormal aortic valve physiology hp0009lx5z 2017-12-17 15:20:51+00:00 peter owl:Class HP:0030375 biolink:NamedThing Increased proportion of memory B cells An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). hp0009lx5z UMLS:C4072914 owl:Class HP:0030373 biolink:NamedThing Abnormal proportion of memory B cells A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). hp0009lx5z Memory B cells can be defined as CD19+/CD27+ or CD20+/CD27+ cells in flow cytometry. UMLS:C4072912 owl:Class HP:0100248 biolink:NamedThing Hemiballismus Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. hp0009lx5z Ballismus Hemiballismus is a very rare movement disorder. It is five hundred times rarer than Parkinson disease. Its effects can sometimes be severe enough to prevent patients from being able to perform daily functions. It is usually associated with structural brain lesions but can occur with metabolic abnormalities. The symptoms can also decrease while the patient is asleep, unlike some movement disorders. Ballism refers to very large-amplitude choreic movements of the proximal parts of the limbs, causing flinging and flailing limb movements. Ballism is most frequently unilateral, in which case it is referred to as hemiballism doelkens 2010-07-09T12:21:41Z MSH:D020820|SNOMEDCT_US:66637005|UMLS:C0221169 owl:Class HP:0011442 biolink:NamedThing Abnormal central motor function An anomaly of the control or production of movement in the central nervous system. hp0009lx5z Abnormality of central motor function peter 2012-03-18T02:29:04Z UMLS:C4023354 owl:Class HP:0010440 biolink:NamedThing Ectopic accesory toe-like appendage In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). hp0009lx5z doelkens 2009-07-29T01:23:02Z UMLS:C4023826 human_phenotype owl:Class HP:0001829 biolink:NamedThing Foot polydactyly A kind of polydactyly characterized by the presence of a supernumerary toe or toes. hp0009lx5z Polydactyly of the foot|Duplication of bones of the toes|Polydactyly of feet HP:0009135 SNOMEDCT_US:62218008|UMLS:C0158734 human_phenotype owl:Class HP:0025341 biolink:NamedThing Corneal keratic precipitates An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea. hp0009lx5z 2017-02-12 13:03:48+00:00 Keratic precipitates may collect in a triangular pattern called Arit triangle with the base down on the lower part of theendothelial surface or may be distributed diffusely accross the endothelium. If they are greasy in appearance, the term mutton fat keratic precipitate is used. HPO:probinson owl:Class HP:0032758 biolink:NamedThing Focal aware myoclonic seizure A type of focal myoclonic seizure during which awareness is fully retained throughout. hp0009lx5z A single or short cluster of brief muscle contractions (jerks), each jerk is typically milliseconds in duration. peter owl:Class HP:0011166 biolink:NamedThing Focal myoclonic seizure A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. hp0009lx5z Partial myoclonic seizures|Local myoclonic seizures|Partial myoclonic seizure|Localized myoclonic seizure|Localised myoclonic seizure|Segmental myoclonic seizures|Segmental myoclonic seizure|Focal myoclonic seizures peter 2011-10-18T02:34:14Z HP:0025191 UMLS:C4023501 owl:Class HP:0009126 biolink:NamedThing Increased adipose tissue An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). hp0009lx5z Increased adipose tissue|Increased fat tissue peter 2008-04-05T11:43:00Z UMLS:C4024583 human_phenotype owl:Class HP:0003083 biolink:NamedThing Dislocated radial head A dislocation of the head of the radius from its socket in the elbow joint. hp0009lx5z Dislocated radial heads|Radial head dislocation/subluxation|Radial head dislocation|Dislocation of radial head|Dislocation of the radial head|Dislocated radius|Congenital radial head dislocation|Radial dislocation HP:0005836|HP:0002975|HP:0005673 UMLS:C0265563|SNOMEDCT_US:9634000 human_phenotype owl:Class HP:0100744 biolink:NamedThing Abnormality of the humeroradial joint hp0009lx5z doelkens 2011-06-06T06:24:45Z UMLS:C4021981 human_phenotype owl:Class HP:0500144 biolink:NamedThing Hypoisoleucinemia A decreased amount of isoleucine in the blood. hp0009lx5z Low blood isoleucine levels|Decreased blood isoleucine concentration 2018-10-04 13:22:24+00:00 owl:Class HP:0010912 biolink:NamedThing Abnormal circulating isoleucine concentration Any deviation from the normal concentration of isoleucine in the blood circulation. hp0009lx5z peter 2010-12-08T08:47:47Z UMLS:C4023658 human_phenotype owl:Class HP:0100874 biolink:NamedThing Thick hair Increased density of hairs, i.e., and elevated number of hairs per unit area. hp0009lx5z Increased hair density|Thick hair|Increased follicular density doelkens 2011-12-01T02:13:58Z UMLS:C4073184 human_phenotype owl:Class HP:0025582 biolink:NamedThing Submacular hemorrhage Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. hp0009lx5z Submacular haemorrhage|Sub-macular haemorrhage|Sub-macular hemorrhage 2018-01-13 19:25:19+00:00 HPO:probinson owl:Class HP:0025574 biolink:NamedThing Macular hemorrhage Bleeding occurring within the macula lutea of the retina. hp0009lx5z Macular haemorrhage 2017-12-15 14:47:24+00:00 HPO:probinson owl:Class HP:0008390 biolink:NamedThing Recurrent loss of toenails and fingernails Repeated loss, or shedding, of the nails of the fingers and toes. hp0009lx5z Recurrent loss of toenails and fingernails|Recurrent shedding of toenails and fingernails UMLS:C4021542 owl:Class HP:0001806 biolink:NamedThing Onycholysis Detachment of the nail from the nail bed. hp0009lx5z Detachment of nail|Oncholysis SNOMEDCT_US:75789001|MEDDRA:10030337|UMLS:C0085661|MSH:D054039 owl:Class HP:0012523 biolink:NamedThing Oral aversion Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing). hp0009lx5z peter 2013-12-14T09:18:51Z UMLS:C3665983 human_phenotype owl:Class HP:0100738 biolink:NamedThing Abnormal eating behavior Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. hp0009lx5z Abnormal eating behavior|Abnormal eating behaviour Note that this HPO term refers to an abnormal eating habit but does not directly refer to an eating disorder, which is a psychological disorder that is characterized by one or more abnormal eating behaviors. doelkens 2011-06-06T05:54:51Z UMLS:C4021982 human_phenotype owl:Class HP:0010395 biolink:NamedThing Aplasia/hypoplasia of the proximal phalanx of the 2nd toe Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe. hp0009lx5z Absent/small innermost 2nd toe bone|Absent/underdeveloped innermost 2nd toe bone doelkens 2009-07-16T11:58:15Z UMLS:C4023859 human_phenotype owl:Class HP:0010203 biolink:NamedThing Aplasia/hypoplasia of proximal toe phalanx Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes. hp0009lx5z Absent/underdeveloped innermost toe bones|Absent/small innermost toe bones|Aplasia/Hypoplasia of the proximal phalanges of the toes doelkens 2009-05-29T01:54:18Z UMLS:C4021317 human_phenotype owl:Class HP:0009675 biolink:NamedThing Absent epiphysis of the distal phalanx of the thumb Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb. hp0009lx5z Absent end part of thumb outermost long bone doelkens 2009-01-30T09:18:09Z UMLS:C4024242 human_phenotype owl:Class HP:0009686 biolink:NamedThing Absent epiphyses of the thumb Absence of one or more epiphyses of the thumb. hp0009lx5z doelkens 2009-01-30T09:20:16Z UMLS:C4024233 human_phenotype owl:Class HP:0010037 biolink:NamedThing Aplasia of the 2nd metacarpal Absence of the second long bone of the hand. hp0009lx5z Absent 2nd long bone of hand doelkens 2009-05-27T04:35:04Z UMLS:C4024090 human_phenotype owl:Class HP:0010036 biolink:NamedThing Aplasia/Hypoplasia of the 2nd metacarpal Aplasia or Hypoplasia affecting the 2nd metacarpal. hp0009lx5z Absent/small 2nd long bone of hand|Absent/underdeveloped 2nd long bone of hand doelkens 2009-05-27T04:34:44Z UMLS:C4024091 human_phenotype owl:Class HP:0020038 biolink:NamedThing Vertebrobasilar dolichoectasia Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm. hp0009lx5z 2017-10-13 12:54:00+00:00 The basilar artery arises from the confluence of the two vertebral arteries. robinp owl:Class HP:0030321 biolink:NamedThing Abnormal vertebral artery morphology An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system. hp0009lx5z Abnormality of the vertebral artery UMLS:C4022512 owl:Class HP:0040019 biolink:NamedThing Finger clinodactyly hp0009lx5z Curvature of finger HPO:skoehler SNOMEDCT_US:17268007|UMLS:C0265610|UMLS:C4280298 owl:Class HP:0001273 biolink:NamedThing Abnormal corpus callosum morphology Abnormality of the corpus callosum. hp0009lx5z Corpus callosum abnormality|Abnormality of the corpus callosum|Abnormal corpus callosum The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. HP:0007323 UMLS:C1842581 owl:Class HP:0011649 biolink:NamedThing Patent ductus arteriosus after premature birth Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation. hp0009lx5z peter 2012-04-09T09:59:59Z UMLS:C4023248 human_phenotype owl:Class HP:0001643 biolink:NamedThing Patent ductus arteriosus In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. hp0009lx5z Persistent ductus arteriosus|Ductus arteriosus|PDA|Persistent arterial duct Fyler:2100|MSH:D004374|SNOMEDCT_US:83330001|UMLS:C0013274 owl:Class HP:0031651 biolink:NamedThing Abnormal tricuspid valve physiology Any functional defect of the tricuspid valve. hp0009lx5z 2017-12-17 15:19:13+00:00 peter owl:Class HP:0031650 biolink:NamedThing Abnormal atrioventricular valve physiology Any functional defect of the mitral or tricuspid valve. hp0009lx5z 2017-12-17 15:17:45+00:00 peter owl:Class HP:0500111 biolink:NamedThing Positive urine benzodiazepines test Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine. hp0009lx5z 2018-06-25 16:04:20+00:00 owl:Class HP:0031840 biolink:NamedThing Urine xenobiotic The presence of a xenobiotic in urine. hp0009lx5z 2018-05-05 14:15:17+00:00 peter owl:Class HP:0010247 biolink:NamedThing Bracket epiphyses of the distal phalanges of the hand An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the outermost hand bones doelkens 2009-07-06T04:23:06Z UMLS:C4023952 human_phenotype owl:Class HP:0031455 biolink:NamedThing Presacral ganglioneuroma A gangioleneuroma originating from sympathetic ganglion cells in the abdomen. hp0009lx5z 2017-09-17 15:53:08+00:00 peter owl:Class HP:0003005 biolink:NamedThing Ganglioneuroma A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. hp0009lx5z Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system. SNOMEDCT_US:116371000119107|SNOMEDCT_US:53801007|MSH:D005729|UMLS:C0017075|SNOMEDCT_US:128919000 human_phenotype owl:Class HP:0032814 biolink:NamedThing Neonatal electro-clinical clonic seizure Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric. hp0009lx5z Neonatal electroclinical clonic seizure peter owl:Class HP:0033694 biolink:NamedThing Tactile hallucination The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object. hp0009lx5z Tactile hallucinations 2021-03-07 23:00:31+00:00 There are many different types of tactile hallucination. A common one is formication, the sensation like insects crawling over the skin (derived from the Latin word for ant, formica). peter owl:Class HP:0000738 biolink:NamedThing Hallucinations Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. hp0009lx5z Hallucination|Sensory hallucination|Hallucinations SNOMEDCT_US:7011001|UMLS:C0018524|UMLS:C0235153|MSH:D006212 owl:Class HP:0031127 biolink:NamedThing Impaired convulxin-induced platelet aggregation Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin. hp0009lx5z 2017-06-10 12:31:53+00:00 peter owl:Class HP:0025333 biolink:NamedThing Cortical thinning of foot bones A reduction in the thickness of the outer shell (cortex) of foot bones. hp0009lx5z 2017-02-11 12:10:34+00:00 HPO:probinson owl:Class HP:0025332 biolink:NamedThing Abnormality of foot cortical bone An anomaly of the outer shell (cortex) of a foot bone. hp0009lx5z Abnormality of the cortex of foot bones 2017-02-11 12:09:16+00:00 HPO:probinson owl:Class HP:0006693 biolink:NamedThing Myocardial steatosis Steatosis in the myocardium. hp0009lx5z UMLS:C4025000 human_phenotype owl:Class HP:0410182 biolink:NamedThing Decreased glucose-6-phosphate dehydrogenase level in dried blood spot A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. hp0009lx5z Decreased glucose-6-phosphate dehydrogenase level in DBS|Decreased G6PD level in dried blood spot 2018-05-21 17:58:29+00:00 owl:Class HP:0410180 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. hp0009lx5z Abnormal glucose-6-phosphate dehydrogenase level in DBS|Abnormal G6PD level in dried blood spot 2018-05-21 17:57:23+00:00 owl:Class HP:0100307 biolink:NamedThing Cerebellar hemisphere hypoplasia hp0009lx5z doelkens 2010-08-10T02:51:21Z UMLS:C4022154 human_phenotype owl:Class HP:0001321 biolink:NamedThing Cerebellar hypoplasia Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. hp0009lx5z Hypoplasia of cerebellum|Underdeveloped cerebellum|Small cerebellum|Congenital cerebellar hypoplasia|Hypoplastic cerebellum By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. HP:0007053|HP:0006910|HP:0007038|HP:0006806 UMLS:C0266470|SNOMEDCT_US:16026008|MSH:C562568 owl:Class HP:0010456 biolink:NamedThing Abnormal greater sciatic notch morphology An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. hp0009lx5z Abnormality of the greater sacrosciatic notch|Abnormality of the sacroiliac notch|Abnormality of greater sciatic notch peter 2009-09-15T08:14:32Z HP:0030266 UMLS:C4023822 human_phenotype owl:Class HP:0002644 biolink:NamedThing Abnormality of pelvic girdle bone morphology An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. hp0009lx5z Abnormal shape of pelvic girdle bone|Abnormality of the pelvic girdle UMLS:C4020847 human_phenotype owl:Class HP:0410211 biolink:NamedThing Abnormal blood gas level in cord blood hp0009lx5z 2018-09-12 00:44:12+00:00 owl:Class HP:0410210 biolink:NamedThing Abnormal cord blood measurement An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level. hp0009lx5z 2018-09-12 00:35:41+00:00 owl:Class HP:0000220 biolink:NamedThing Velopharyngeal insufficiency Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. hp0009lx5z Velopharyngeal dysfunction|Velopharyngeal incompetence SNOMEDCT_US:278714002|SNOMEDCT_US:232416001|UMLS:C4280669|SNOMEDCT_US:229727006|UMLS:C0042454|MSH:D014681 human_phenotype owl:Class HP:0100736 biolink:NamedThing Abnormal soft palate morphology An abnormality of the soft palate. hp0009lx5z Abnormality of the velum|Abnormality of the velum palatinum|Abnormality of the soft palate|Abnormality of the muscular palate doelkens 2011-06-06T05:41:48Z UMLS:C4021984 human_phenotype owl:Class HP:0009255 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger. hp0009lx5z Irregular end part of the outermost bone of the ring finger doelkens 2009-01-07T12:07:34Z UMLS:C4024492 human_phenotype owl:Class HP:0009249 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 4th finger hp0009lx5z Abnormality of the end part of the outermost bone of the ring finger doelkens 2009-01-07T12:04:09Z UMLS:C4024498 human_phenotype owl:Class HP:0010926 biolink:NamedThing Aculeiform cataract A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. hp0009lx5z Fasciculiform cataract|Frosted cataract|Needle-shaped cataract This phenotype is characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. Some crystals may be 11 mm in length, and their biochemical composition is not known. This type of cataract is considered to be different from the corraliform cataract, which does not show the needlelike projections. This opacity does not appear to respect the sutures or the direction of the lens fibers (Francois 1963) and appears to originate from the fetal and postnatal nuclei, suggesting a congenital origin with some postnatal progression, if any. peter 2010-12-19T03:47:35Z UMLS:C1861832|MSH:C566162 human_phenotype owl:Class HP:0100018 biolink:NamedThing Nuclear cataract A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. hp0009lx5z Yellowish cloudy center of lens|Yellowish cloudy centre of lens doelkens 2010-05-28T11:34:45Z HP:0008024|HP:0007672|HP:0007781 UMLS:C0392557|SNOMEDCT_US:53889007 human_phenotype owl:Class HP:0030000 biolink:NamedThing EMG: repetitive nerve stimulation abnormality Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. hp0009lx5z UMLS:C4022681 owl:Class HP:0003457 biolink:NamedThing EMG abnormality Abnormal results of investigations using electromyography (EMG). hp0009lx5z Abnormal EMG|Electromyogram abnormal|Abnormal electromyography finding|EMG abnormalities HP:0003751|HP:0003753|HP:0100286|HP:0002177 SNOMEDCT_US:274523007|UMLS:C0476403 owl:Class HP:0020153 biolink:NamedThing Positive blood 1,3 beta glucan test Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis. hp0009lx5z robinp 2019-07-05 21:01:45+00:00 owl:Class HP:0410172 biolink:NamedThing Blood xenobiotic The presence of a xenobiotic in blood. hp0009lx5z 2018-05-18 18:31:08+00:00 owl:Class HP:0008955 biolink:NamedThing Progressive distal muscular atrophy Progressive muscular atrophy affecting muscles in the distal portions of the extremities. hp0009lx5z UMLS:C4024613 human_phenotype owl:Class HP:0000575 biolink:NamedThing Scotoma A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. hp0009lx5z Blind spot SNOMEDCT_US:23388006|MSH:D009898|SNOMEDCT_US:81016008|UMLS:C0344233|UMLS:C0036454|MSH:D012607 human_phenotype owl:Class HP:0001123 biolink:NamedThing Visual field defect hp0009lx5z Partial loss of field of vision|Visual field defects SNOMEDCT_US:12184005|UMLS:C3887875 human_phenotype owl:Class HP:0033712 biolink:NamedThing Repeated implantation failure Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles. hp0009lx5z Recurrent implantation failure 2021-04-07 11:40:41+00:00 Successful embryo implantation is a process which requires both a synchronous development and interaction between hatched blastocyst and endometrium. From the clinical point of view, implantation is considered to be successful when gestational sac is diagnosed by ultrasound. peter owl:Class HP:0033335 biolink:NamedThing Abnormal preimplantation embryonic development An anomaly in the development of the embryo in a stage prior to implantation. hp0009lx5z 2020-11-29 17:49:55+00:00 Human embryo development begins in relative transcriptional silence with an oocyte to embryo transition that lasts for about 3 days and encompasses fusion of the egg and sperm, migration and fusion of the germ cell pronuclei, genetic and epigenetic reprogramming. The embryo subsequently undergoes compaction to form a morula that marks the first morphological indication of a break in radial symmetry. Subsequent cell divisions lead to the development of a blastocyst that comprises a fluid-filled blastocyst cavity and an inner cell mass, surrounded by trophectoderm cells. Implantation, which in humans occurs at approximately day 7 of development, is required for further development of the embryo proper. peter owl:Class HP:0031231 biolink:NamedThing Narrow incisura width Width of the incisura from the anterior to posterior border less than that observed in the average population. hp0009lx5z 2017-07-02 13:00:49+00:00 peter owl:Class HP:0031228 biolink:NamedThing Abnormal incisura morphology An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. hp0009lx5z 2017-07-02 12:57:09+00:00 peter owl:Class HP:0002898 biolink:NamedThing Embryonal neoplasm hp0009lx5z Embryonal neoplasia|Embryonal tumors|Embryonal tumours UMLS:C0027654|MSH:D009373 human_phenotype owl:Class HP:0011792 biolink:NamedThing Neoplasm by histology Neoplasm categorized according to type of histological abnormality. hp0009lx5z peter 2012-04-22T06:57:50Z UMLS:C4023186 human_phenotype owl:Class HP:0002884 biolink:NamedThing Hepatoblastoma A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. hp0009lx5z Hepatoblastoma occurs nearly exclusively in infants and children. NCIT:C3728|SNOMEDCT_US:45024009|SNOMEDCT_US:109843000|MSH:D018197|UMLS:C0206624 human_phenotype owl:Class HP:0004610 biolink:NamedThing Lumbar spinal canal stenosis An abnormal narrowing of the lumbar spinal canal. hp0009lx5z Narrow lumbar spinal canal|Lumbar spinal stenosis Symptoms of lumbar spinal canal stenosis include pseudoclaudication (pain, numbness,, or weakness induced by walking and relieved by rest; the prefix pseudo is used to differentiate this manifestation from claudication, which has similar symptoms but is caused by peripheral artery disease). UMLS:C0158288|SNOMEDCT_US:18347007 human_phenotype owl:Class HP:0003416 biolink:NamedThing Spinal canal stenosis An abnormal narrowing of the spinal canal. hp0009lx5z Spinal stenosis|Narrow spinal canal Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column. HP:0008446 UMLS:C1861329 human_phenotype owl:Class HP:0030611 biolink:NamedThing Retinal pigment epithelial loss on macular OCT hp0009lx5z UMLS:C4073081 owl:Class HP:0030612 biolink:NamedThing Abnormal retinal morphology on macular OCT hp0009lx5z UMLS:C4073082 owl:Class HP:0003853 biolink:NamedThing Sclerosis with transverse striations in metaphyses of the upper limbs hp0009lx5z UMLS:C4025552 human_phenotype owl:Class HP:0003854 biolink:NamedThing Sclerosis of metaphyses of the upper limbs hp0009lx5z Increased bone density in wide portion of the upper limb bones UMLS:C4025551 human_phenotype owl:Class HP:0009575 biolink:NamedThing Triangular shaped middle phalanx of the 2nd finger Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped middle bone of index finger doelkens 2009-01-28T05:10:24Z UMLS:C4024283 human_phenotype owl:Class HP:0009850 biolink:NamedThing Triangular shaped middle phalanges of the hand hp0009lx5z Triangular shaped middle finger bones of the hand doelkens 2009-03-11T12:15:55Z HP:0009876 UMLS:C4024183 human_phenotype owl:Class HP:0033194 biolink:NamedThing Perioral erythema Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth. hp0009lx5z 2020-10-10 15:50:36+00:00 peter owl:Class HP:0009983 biolink:NamedThing Partial duplication of the proximal phalanx of the 4th finger Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Partial duplication of the innermost bone of the ring finger doelkens 2009-05-26T02:20:37Z UMLS:C4024129 human_phenotype owl:Class HP:0011134 biolink:NamedThing Low-grade fever Mild fever that does not exceed 38.5 degrees centigrade. hp0009lx5z Mild fever|Low-grade fever peter 2011-06-19T12:19:44Z UMLS:C0239574|SNOMEDCT_US:304213008 owl:Class HP:0100441 biolink:NamedThing Bullet-shaped distal phalanx of the 4th toe An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped outermost bone of the 4th toe UMLS:C4022086 human_phenotype owl:Class HP:0010373 biolink:NamedThing Bullet-shaped 4th toe phalanx An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped phalanges of the 4th toe|Bullet-shaped bones of the 4th toe doelkens 2009-07-16T11:51:46Z UMLS:C4021281 human_phenotype owl:Class HP:0004439 biolink:NamedThing Craniofacial dysostosis A characteristic appearance resulting from defective ossification of craniofacial bones. hp0009lx5z Crouzon syndrome Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future. peter 2008-03-18T09:58:00Z UMLS:C0010273|MSH:D003394|SNOMEDCT_US:28861008 human_phenotype owl:Class HP:0000271 biolink:NamedThing Abnormality of the face An abnormality of the face. hp0009lx5z Facial anomaly|Abnormality of the face|Facial abnormality|Anomaly of face|Abnormality of the countenance|Abnormality of the visage|Abnormal face|Disorder of the face|Disorder of face|Anomaly of the face|Abnormality of the physiognomy SNOMEDCT_US:118930001|SNOMEDCT_US:398206004|UMLS:C0266617|SNOMEDCT_US:398302004|UMLS:C4025871|UMLS:C1290857|SNOMEDCT_US:32003007 human_phenotype owl:Class HP:0032704 biolink:NamedThing Focal aware cognitive seizure with illusion A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0032681 biolink:NamedThing Focal aware cognitive seizure A focal aware cognitive seizure during which awareness is retained throughout the seizure. hp0009lx5z peter HP:0032881|HP:0032683 owl:Class HP:0001276 biolink:NamedThing Hypertonia A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. hp0009lx5z Increased muscle tone|Hypertonicity|Spasticity and rigidity of muscles|Muscle hypertonia Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. HP:0002388 SNOMEDCT_US:56731001|UMLS:C0026826|SNOMEDCT_US:41581000|MSH:D009122 human_phenotype owl:Class HP:0003808 biolink:NamedThing Abnormal muscle tone hp0009lx5z Abnormal muscle tone UMLS:C0852413 human_phenotype owl:Class HP:0012683 biolink:NamedThing Pineal cyst A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland. hp0009lx5z Pineal cysts are benign and often asymptomatic lesions. They are typically visualized by computed tomography or magnetic resonance imaging. peter 2014-03-22T01:01:45Z UMLS:C1335411|SNOMEDCT_US:413099000 human_phenotype owl:Class HP:0012681 biolink:NamedThing Abnormal pineal morphology A structural abnormality of the pineal gland. hp0009lx5z Abnormality of pineal morphology The pineal gland typically measures 7 x 6 x 3mm in size and is located in a groove between the laterally placed thalamic bodies. peter 2014-03-22T12:50:21Z UMLS:C4022782 owl:Class HP:0007596 biolink:NamedThing Painful subcutaneous lipomas The presence of multiple subcutaneous lipoma that cause pain. hp0009lx5z Painful noncancerous fat tissue tumour under the skin|Painful noncancerous fat tissue tumor under the skin UMLS:C4024838 human_phenotype owl:Class HP:0001031 biolink:NamedThing Subcutaneous lipoma The presence of subcutaneous lipoma. hp0009lx5z NCIT:C3192|UMLS:C1403035 human_phenotype owl:Class HP:0025596 biolink:NamedThing Abnormal inferior oblique muscle physiology A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve. hp0009lx5z 2018-01-13 20:54:37+00:00 The major functions of the inferior oblique muscle are extorsion (external rotation), elevation, and abduction. HPO:probinson owl:Class HP:0031739 biolink:NamedThing Abnormal oblique muscle physiology A functional anomaly of the inferior or superior oblique muscle. hp0009lx5z 2018-01-21 13:53:14+00:00 The superior oblique muscle is responsible for incyclotorsion (inward turning) or the eye. The inferior oblique muscle is responsible for excyclotorsion (outward turning) or the eye. peter owl:Class HP:0010633 biolink:NamedThing Partial anosmia Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). hp0009lx5z peter 2009-12-06T07:52:37Z UMLS:C4023767 owl:Class HP:0000458 biolink:NamedThing Anosmia An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. hp0009lx5z Loss of smell|Lost smell UMLS:C0003126|MSH:D000857|SNOMEDCT_US:44169009 owl:Class HP:0002764 biolink:NamedThing Stippled chondral calcification Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints). hp0009lx5z See the figure in PMID:29246349 UMLS:C4025679 owl:Class HP:0002832 biolink:NamedThing Calcific stippling An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). hp0009lx5z Discrete calcific stippling HP:0005738 UMLS:C1849993 human_phenotype owl:Class HP:0046503 biolink:NamedThing Increased libido Elevated sexual desire. hp0009lx5z owl:Class HP:0031845 biolink:NamedThing Abnormal libido Any deviation from the normal sexual drive or desire for sexual activity. hp0009lx5z 2018-05-05 15:32:59+00:00 peter owl:Class HP:0033285 biolink:NamedThing Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. hp0009lx5z 2020-11-28 20:39:15+00:00 peter owl:Class HP:0004722 biolink:NamedThing Thickened glomerular basement membrane Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. hp0009lx5z This finding is demonstrated on renal biopsy. SNOMEDCT_US:264932002|UMLS:C0445347 Thickening of the glomerular basement membrane owl:Class HP:0500267 biolink:NamedThing Abnormal proportion of CD4-positive helper T cells An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count. hp0009lx5z 2020-05-15 20:12:03+00:00 owl:Class HP:0031392 biolink:NamedThing Abnormal proportion of CD4-positive T cells Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells. hp0009lx5z Abnormal proportion of CD4+ T cells|Abnormal proportion of CD4-positive, alpha-beta T cells 2017-09-02 17:05:31+00:00 peter owl:Class HP:0002244 biolink:NamedThing Abnormality of the small intestine An abnormality of the small intestine. hp0009lx5z UMLS:C4025717 owl:Class HP:0002242 biolink:NamedThing Abnormal intestine morphology An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. hp0009lx5z Abnormality of the intestine|Enteropathy HP:0002628 MSH:D007410|SNOMEDCT_US:85919009|UMLS:C0021831 human_phenotype owl:Class HP:0000524 biolink:NamedThing Conjunctival telangiectasia The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. hp0009lx5z Telangiectasia, conjunctival|Small dilated blood vessels near membrane covering front of eye and eyelids|Conjunctival telangiectases UMLS:C0239105|SNOMEDCT_US:231870008 human_phenotype owl:Class HP:0008054 biolink:NamedThing Abnormal morphology of the conjunctival vasculature Any abnormality of the blood vessels of the conjunctiva. hp0009lx5z Abnormality of the vasculature of the conjunctiva|Abnormal vasculature of the conjunctiva morphology|Abnormal morphology of the conjunctiva vasculature peter 2008-04-02T03:04:00Z UMLS:C4024747 human_phenotype owl:Class HP:0010657 biolink:NamedThing Patchy reduction of bone mineral density Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z doelkens 2010-02-25T10:32:54Z UMLS:C4023755 human_phenotype owl:Class HP:0004349 biolink:NamedThing Reduced bone mineral density A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. hp0009lx5z Decreased bone mineral density Z score|Decreased bone mineral density|Low solidness and mass of the bones peter 2008-03-11T08:10:00Z UMLS:C2674432 human_phenotype owl:Class HP:0410295 biolink:NamedThing Complete or near-complete absence of specific antibody response to tetanus vaccine The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:02:31+00:00 owl:Class HP:0410294 biolink:NamedThing Decreased specific antibody response to protein vaccine A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:02:23+00:00 owl:Class HP:0010511 biolink:NamedThing Long toe Toes that appear disproportionately long compared to the foot. hp0009lx5z Long toe|Long toes|Increased length of toes This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified. peter 2009-09-19T10:40:43Z UMLS:C3150613 human_phenotype owl:Class HP:0012368 biolink:NamedThing Flat face Absence of concavity or convexity of the face when viewed in profile. hp0009lx5z Flat facial profile|Flat facial shape|Flat facies|Flat face A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave. peter 2013-10-13T01:49:13Z UMLS:C1853241 human_phenotype owl:Class HP:0031411 biolink:NamedThing Abnormal chromosome morphology Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order. hp0009lx5z 2017-09-04 15:22:36+00:00 peter Fyler:4013 owl:Class HP:0025461 biolink:NamedThing Abnormal cell morphology Any anomaly of cell structure. hp0009lx5z 2017-05-07 11:14:54+00:00 HPO:probinson owl:Class HP:0012718 biolink:NamedThing Morphological abnormality of the gastrointestinal tract Abnormal structure of the gastrointestinal tract. hp0009lx5z Morphological anomaly of the digestive system|Morphological abnormality of the GI tract|Abnormal shape of the digestive system peter 2014-03-23T01:09:02Z UMLS:C4021073 human_phenotype owl:Class HP:0031950 biolink:NamedThing Usual interstitial pneumonia Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. hp0009lx5z 2018-07-06 12:27:18+00:00 Usual interstitial pneumonia (UIP) is usually identified by a honeycombing pattern in a CT scan; in contrast, diffuse interstitial pneumonia (DIP) is not associated with the honeycombing pattern of fibrotic tissue. DIP tends to stabilize or improve after treatment, UIP often continues to progress (irregular lines or honeycombing). Honeycombing, clustered cysts with well-defined walls involving the subpleural lung, is the key finding for making a definite diagnosis of UIP pattern. UIP is associated with autoimmune diseases such as rheumatoid arthritis (and rheumatoid arthritis-interstitial lung disease, or RA-ILD). peter owl:Class HP:0006611 biolink:NamedThing Decreased number of sternal ossification centers A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms. hp0009lx5z Decreased number of sternal ossification centres UMLS:C1856223 human_phenotype owl:Class HP:0011863 biolink:NamedThing Abnormal sternal ossification Any anomaly in the formation of the bony substance of the sternum. hp0009lx5z Sternal ossification centre abnormalities|Abnormal maturation of breastbone|Sternal ossification center abnormalities The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process. peter 2012-05-27T04:08:55Z HP:0006624 UMLS:C1860243 human_phenotype owl:Class HP:0012627 biolink:NamedThing Pseudoexfoliation Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. hp0009lx5z In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork. peter 2014-01-17T10:50:32Z UMLS:C4022815 human_phenotype owl:Class HP:0004328 biolink:NamedThing Abnormal anterior eye segment morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). hp0009lx5z Abnormality of the anterior segment of the globe|Abnormality of the anterior segment of the eye|Abnormality of the anterior segment of the eyeball|Abnormal anterior segment morphology The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. peter 2008-02-27T04:23:00Z UMLS:C4025355 human_phenotype owl:Class HP:0010266 biolink:NamedThing Stippling of the epiphyses of the middle phalanges of the hand hp0009lx5z Speckled calcifications in the end part of the middle hand bones doelkens 2009-07-06T04:24:15Z UMLS:C4023935 human_phenotype owl:Class HP:0010244 biolink:NamedThing Abnormality of the epiphyses of the middle phalanges of the hand hp0009lx5z Abnormality of the end part of the middle hand bones doelkens 2009-07-06T04:21:32Z UMLS:C4023955 human_phenotype owl:Class HP:0012403 biolink:NamedThing Decreased urine alpha-ketoglutarate concentration A lower than normal concentration of 2-oxoglutaric acid in the urine. hp0009lx5z Decreased urinary 2-oxoglutarate Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. peter 2013-11-09T03:49:45Z UMLS:C4022914 human_phenotype owl:Class HP:0012401 biolink:NamedThing Abnormal urine alpha-ketoglutarate concentration A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. hp0009lx5z Abnormal urinary 2-oxoglutarate level|Abnormality of urine alpha ketoglutarate concentration Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. peter 2013-11-09T03:45:40Z UMLS:C4020902 human_phenotype owl:Class HP:0009304 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 4th finger Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger. hp0009lx5z Uneven increase in bone density in the outermost bone of the ring finger doelkens 2009-01-08T04:41:33Z UMLS:C4024456 human_phenotype owl:Class HP:0100902 biolink:NamedThing Sclerosis of the distal phalanx of the 4th finger hp0009lx5z Increased bone density in the outermost bone of the ring finger UMLS:C4021940 human_phenotype owl:Class HP:0003343 biolink:NamedThing Reduced glutathione synthetase level Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline. hp0009lx5z Glutathione synthetase deficiency SNOMEDCT_US:39112005|SNOMEDCT_US:234589002|MSH:C536835|UMLS:C0398746|SNOMEDCT_US:124706000 human_phenotype owl:Class HP:0010038 biolink:NamedThing Short 2nd metacarpal Short second metacarpal bone because of developmental hypoplasia. hp0009lx5z Shortened 2nd long bone of hand|Rudimentary 2nd metacarpal|Hypoplastic 2nd metacarpal doelkens 2009-05-27T04:35:04Z HP:0006231 UMLS:C4020774|UMLS:C1969397 human_phenotype owl:Class HP:0010049 biolink:NamedThing Short metacarpal Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. hp0009lx5z Shortening of metacarpals|Shortened long bones of hand|Shortened long bone of hand|Hypoplastic metacarpal|Short metacarpal bones|Short metacarpals|Brachymetacarpalia|Shortened metacarpals|Metacarpal hypoplasia Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. doelkens 2009-05-27T04:40:58Z HP:0006183|HP:0006047|HP:0005909|HP:0001164|HP:0005717|HP:0006186|HP:0005695 UMLS:C1837084 human_phenotype owl:Class HP:0040138 biolink:NamedThing Mucinous histiocytosis Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone. hp0009lx5z Histiocytosis, mucinous HPO:skoehler SNOMEDCT_US:87412005|UMLS:C0334126 owl:Class HP:0033107 biolink:NamedThing Abnormal circulating proteinogenic amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. hp0009lx5z 2020-08-29 11:59:15+00:00 peter owl:Class HP:0010026 biolink:NamedThing Aplasia/Hypoplasia of the 1st metacarpal Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). hp0009lx5z Absent/small 1st long bone of hand|Absent/underdeveloped 1st long bone of hand doelkens 2009-05-27T04:24:30Z UMLS:C4024098 human_phenotype owl:Class HP:0010009 biolink:NamedThing Abnormality of the 1st metacarpal A structural anomaly of the first metacarpal. hp0009lx5z Abnormality of the 1st long bone of hand In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. doelkens 2009-05-27T03:35:21Z UMLS:C4024114 human_phenotype owl:Class HP:0010355 biolink:NamedThing Duplication of the phalanges of the 2nd toe Partial or complete duplication of a phalanx of second toe. hp0009lx5z Partial/complete duplication of the phalanges of the 2nd toe|Duplication of the bones of the 2nd toe doelkens 2009-07-16T11:45:34Z UMLS:C4021286 human_phenotype owl:Class HP:0010324 biolink:NamedThing Abnormality of phalanx of the 2nd toe An anomaly of a phalanx of second toe. hp0009lx5z Abnormality of the 2nd toe bone doelkens 2009-07-16T11:40:18Z UMLS:C4023903 human_phenotype owl:Class HP:0010404 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 2nd toe hp0009lx5z Absent/underdeveloped middle bone of 2nd toe|Absent/small middle bone of 2nd toe doelkens 2009-07-16T12:43:52Z UMLS:C4023851 human_phenotype owl:Class HP:0010194 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanges of the toes hp0009lx5z Absent/underdeveloped middle bones of toe|Absent/small middle bones of toe doelkens 2009-05-29T01:53:35Z UMLS:C4023976 human_phenotype owl:Class HP:0001498 biolink:NamedThing Carpal bone hypoplasia Underdevelopment of one or more carpal bones. hp0009lx5z Small wrist bones|Hypoplastic carpal bones|Hypoplasia of carpal bones|Small carpals|Small carpal bones HP:0006029|HP:0001209|HP:0006117|HP:0006130|HP:0006227|HP:0006072 UMLS:C4280594|UMLS:C1863749 human_phenotype owl:Class HP:0001868 biolink:NamedThing Autoamputation of foot Spontaneous detachment of a foot from the body. hp0009lx5z UMLS:C4025740 human_phenotype owl:Class HP:0001218 biolink:NamedThing Autoamputation Spontaneous detachment (amputation) of an appendage from the body. hp0009lx5z UMLS:C1833222 human_phenotype owl:Class HP:0009212 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger. hp0009lx5z Speckled calcifications in end part of the middle bone of the pinky finger|Speckled calcifications in end part of the middle bone of the pinkie finger|Speckled calcifications in end part of the middle bone of the little finger doelkens 2009-01-05T05:22:18Z UMLS:C4024528 human_phenotype owl:Class HP:0004224 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 5th finger Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. hp0009lx5z Abnormality of the end part of middle pinkie finger bone|Abnormality of the end part of middle little finger bone|Abnormality of the end part of middle pinky finger bone UMLS:C4025405 human_phenotype owl:Class HP:0007834 biolink:NamedThing Progressive cataract A kind of cataract that progresses with age. hp0009lx5z Cataract, progressive HP:0007828 UMLS:C4021566 human_phenotype owl:Class HP:0009119 biolink:NamedThing Aplasia/Hypoplasia of the frontal sinuses Absence or underdevelopment of frontal sinus. hp0009lx5z Abnormally small frontal sinus peter 2008-04-05T11:00:00Z UMLS:C4024588 human_phenotype owl:Class HP:0002687 biolink:NamedThing Abnormality of frontal sinus An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone. hp0009lx5z Abnormality of the forehead sinus|Abnormality of sinus frontalis UMLS:C4025689 human_phenotype owl:Class HP:0410284 biolink:NamedThing Positive norpropoxyphene blood test Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene. hp0009lx5z 2018-12-04 02:17:31+00:00 owl:Class HP:0031373 biolink:NamedThing Stiff tongue Increased rigidity and reduced mobility of the tongue. hp0009lx5z Tongue stiffness 2017-09-02 01:42:21+00:00 peter owl:Class HP:0030809 biolink:NamedThing Abnormal tongue morphology Any structural anomaly of the tongue. hp0009lx5z UMLS:C4280755 owl:Class HP:5000004 biolink:NamedThing Anti-CARP VIII antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII). hp0009lx5z Anti CARPVIII antibody|Anti-carbonic anhydrase-related protein VIII antibody ORCID:0000-0002-3387-1836 owl:Class HP:0025620 biolink:NamedThing Abnormal proportion of CD4+ central memory cells An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. hp0009lx5z Abnormal proportion of central memory CD4+, alpha-beta T cells 2019-04-08 23:55:32+00:00 HPO:probinson owl:Class HP:0025540 biolink:NamedThing Abnormal T cell subset distribution Any abnormality in the proportion T cells subsets relative to the total number of T cells. hp0009lx5z 2017-06-12 15:27:58+00:00 HPO:probinson owl:Class HP:0012702 biolink:NamedThing Tenesmus A repeated, painful urge to defecate without excreting stool. hp0009lx5z peter 2014-03-22T06:23:05Z SNOMEDCT_US:267053000|SNOMEDCT_US:6548007|UMLS:C0232726 human_phenotype owl:Class HP:0012700 biolink:NamedThing Abnormal large intestine physiology A functional anomaly of the large intestine. hp0009lx5z peter 2014-03-22T06:20:38Z UMLS:C4022766 human_phenotype owl:Class HP:0030668 biolink:NamedThing Periorbital dermoid cyst A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts. hp0009lx5z A periorbital dermoid cyst may present as a subcutaneous mass at the lateral aspect of an eyelid. UMLS:C4073119 owl:Class HP:0001144 biolink:NamedThing Orbital cyst Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). hp0009lx5z Orbital cysts|Cyst of eye socket SNOMEDCT_US:31021007|UMLS:C0155285 human_phenotype owl:Class HP:0410297 biolink:NamedThing Partial absence of specific antibody response to tetanus vaccine A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:02:45+00:00 owl:Class HP:0100081 biolink:NamedThing Fragmentation of the epiphyses of the 5th toe hp0009lx5z Fragmentation of the end part of the pinky toe bone|Fragmentation of the end part of the pinkie toe bone|Fragmentation of the end part of the little toe bone doelkens 2010-06-24T10:00:02Z UMLS:C4022340 human_phenotype owl:Class HP:0025523 biolink:NamedThing Abnormal morphology of the chordae tendinae of the mitral valve A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. hp0009lx5z 2017-05-17 23:44:02+00:00 HPO:probinson owl:Class HP:0001633 biolink:NamedThing Abnormal mitral valve morphology Any structural anomaly of the mitral valve. hp0009lx5z Abnormality of the mitral valve HP:0031477 UMLS:C4025759 human_phenotype owl:Class HP:0100406 biolink:NamedThing Duplication of the proximal phalanx of the 5th toe Partial or complete duplication of the proximal phalanx of fifth toe. hp0009lx5z Duplication of the innermost bone of the pinkie toe|Duplication of the proximal phalanx of the fifth toe|Partial/complete duplication of the proximal phalanx of the 5th toe|Duplication of the innermost bone of the little toe|Duplication of the innermost bone of the pinky toe UMLS:C4020991 human_phenotype owl:Class HP:0010394 biolink:NamedThing Abnormality of the proximal phalanx of the 5th toe hp0009lx5z Abnormality of the innermost bone of the pinky toe|Abnormality of the innermost bone of the little toe|Abnormality of the innermost bone of the pinkie toe doelkens 2009-07-16T11:52:18Z UMLS:C4023860 human_phenotype owl:Class HP:0009420 biolink:NamedThing Triangular epiphyses of the 3rd finger A triangular appearance of the epiphyses of the 3rd finger of the hand. hp0009lx5z Triangular end part of middle finger bone|Delta-shaped epiphyses of the 3rd finger doelkens 2009-01-14T02:01:59Z UMLS:C4021479 human_phenotype owl:Class HP:0009320 biolink:NamedThing Abnormality of the epiphyses of the 3rd finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger. hp0009lx5z Abnormality of end part of the middle bone of the middle finger doelkens 2009-01-12T11:07:00Z UMLS:C4024445 human_phenotype owl:Class HP:0006067 biolink:NamedThing Multiple carpal ossification centers A delay in the process of formation and maturation of the epiphysis of one or more long bones. hp0009lx5z Multiple carpal ossification centres UMLS:C1835573 human_phenotype owl:Class HP:0002118 biolink:NamedThing Abnormal cerebral ventricle morphology Any structural abnormality of the cerebral ventricles. hp0009lx5z Abnormality of the cerebral ventricles UMLS:C4025724 owl:Class HP:0003524 biolink:NamedThing Decreased methionine synthase activity A reduction in methionine synthase activity. hp0009lx5z Methionine synthase deficiency|Reduced methionine synthase activity|Methionine synthase activity decreased|Decreased activity of methionine synthase Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine. UMLS:C1848580 human_phenotype owl:Class HP:0003514 biolink:NamedThing Deficiency or absence of cytochrome b(-245) hp0009lx5z Deficiency or absence of cytochrome b UMLS:C1844390 human_phenotype owl:Class HP:0003287 biolink:NamedThing Abnormality of mitochondrial metabolism A functional anomaly of mitochondria. hp0009lx5z Mitochondrial dysfunction UMLS:C4021734 human_phenotype owl:Class HP:0032556 biolink:NamedThing Circumoral cyanosis Persistent blue color of the skin that surrounds the mouth. hp0009lx5z Bluish lips 2019-06-14 10:53:39+00:00 peter owl:Class HP:0008947 biolink:NamedThing Infantile muscular hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. hp0009lx5z Decreased muscle tone in infant|Hypotonia early|Hypotonia, early|Hypotonia in infancy|Infantile hypotonia This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly. HP:0010572|HP:0002449|HP:0002523 UMLS:C1860834 human_phenotype owl:Class HP:0001252 biolink:NamedThing Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. hp0009lx5z Muscle hypotonia|Muscular hypotonia|Low muscle tone|Low or weak muscle tone|Peripheral hypotonia|Central hypotonia Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. HP:0011398 SNOMEDCT_US:398152000|MSH:D009123|SNOMEDCT_US:398151007|UMLS:C0026827 owl:Class HP:0030451 biolink:NamedThing Mesenteric cyst A closed fluid filled sac originating from the mesentary. hp0009lx5z A mesenteric cyst is defined as any cyst located in the mesentery; it may or may not extend into the retroperitoneum, which has a recognizable lining of endothelium or mesothelial cell. Mesenteric cyst can occur anywhere in the mesentery of gastrointestinal tract from duodenum to rectum. Mesenteric cysts can be simple or multiple, unilocular or multilocular, and they may contain hemorrhagic, serous, chylous, or infected fluid. They can range in size from a few millimetres to few cm in diameter, however, at times may be so large that it may mimic tubercular ascites. MSH:D008639|UMLS:C0025467|SNOMEDCT_US:27970007|SNOMEDCT_US:253802003 owl:Class HP:0100016 biolink:NamedThing Abnormality of mesentery morphology Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). hp0009lx5z Abnormality of the mesentery doelkens 2010-05-25T11:20:36Z UMLS:C4022389 human_phenotype owl:Class HP:0030952 biolink:NamedThing Birdshot choroidal lesions Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot. hp0009lx5z 2017-01-13 22:33:03+00:00 robinp owl:Class HP:0000610 biolink:NamedThing Abnormal choroid morphology Any structural abnormality of the choroid. hp0009lx5z Choroid disease|Abnormality of the choroid HP:0001122 UMLS:C0008521|UMLS:C4025836|MSH:D015862 human_phenotype owl:Class HP:0030656 biolink:NamedThing Umbilical vein varix Focal dilation of the umbilical vein. hp0009lx5z UToronto:chum UMLS:C4073115 owl:Class HP:0010881 biolink:NamedThing Abnormality of the umbilical cord An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. hp0009lx5z Umbilical cord issue peter 2010-09-13T08:24:04Z SNOMEDCT_US:90009001|UMLS:C0266785 human_phenotype owl:Class HP:0012060 biolink:NamedThing Acral lentiginous melanoma A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. hp0009lx5z peter 2012-08-01T02:17:02Z SNOMEDCT_US:16974005|SNOMEDCT_US:254732008|UMLS:C0346037 human_phenotype owl:Class HP:0012056 biolink:NamedThing Cutaneous melanoma The presence of a melanoma of the skin. hp0009lx5z The phenotypic presentation of melanomas is often described using the ABCDE mnemomic: A) Asymmetry; B) Borders of the lesion are irregular; C) Color changes from one area of the lesion to another, with shades of tan, brown, or black, and sometimes white, red, or blue; D) Diameter of the lesionis usually larger than 6 mm; E) Evolution of the appearance of the lesion with time. These rules do not, however, apply to every melanoma. peter 2012-08-01T02:04:21Z UMLS:C0025202|SNOMEDCT_US:2092003|NCIT:C3224|MSH:D008545|SNOMEDCT_US:372244006 human_phenotype owl:Class HP:0030893 biolink:NamedThing Abnormal response to short acting pulmonary vasodilator Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg. hp0009lx5z owl:Class HP:0030875 biolink:NamedThing Abnormality of pulmonary circulation A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. hp0009lx5z Abnormal pulmonary circulation|Abnormality of respiratory circulation UMLS:C4280730 owl:Class HP:0003987 biolink:NamedThing Fractured ulna hp0009lx5z SNOMEDCT_US:54556006|MSH:D014458|UMLS:C0041601 human_phenotype owl:Class HP:0003961 biolink:NamedThing Fractured forearm bones Bone fracture in the radius, ulna, or wrist. hp0009lx5z Fractured forearm bones|Broken forearm|Fracture of the forearm UMLS:C4025477 human_phenotype owl:Class HP:0005219 biolink:NamedThing Absence of intrinsic factor Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. hp0009lx5z Intrinsic factor absent from gastric juice This feature can be ascertained by immunoassay of gastric juices. UMLS:C4021641 human_phenotype owl:Class HP:0002577 biolink:NamedThing Abnormal stomach morphology An abnormality of the stomach. hp0009lx5z Abnormality of the stomach The stomach is the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine. UMLS:C4025699 owl:Class HP:0012780 biolink:NamedThing Neoplasm of the ear A tumor (abnormal growth of tissue) of the ear. hp0009lx5z Ear tumour|Ear tumor peter 2014-04-07T06:11:56Z MSH:D004428|NCIT:C3262|UMLS:C0013449|SNOMEDCT_US:363228008 human_phenotype owl:Class HP:0011793 biolink:NamedThing Neoplasm by anatomical site Neoplasm categorized according to the anatomical site of origin of the neoplasm. hp0009lx5z peter 2012-04-22T07:00:13Z UMLS:C4023185 owl:Class HP:0030638 biolink:NamedThing Congenital stationary night blindness with normal fundus hp0009lx5z UMLS:C4073105 owl:Class HP:0007642 biolink:NamedThing Congenital stationary night blindness A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. hp0009lx5z Night blindness, congenital stationary, complete|Night blindness, congenital|Static congenital hemeralopia|Congenital night blindness|Night blindness since birth|Night blindness, congenital stationary|Night blindness, stationary Congenital stationary night blindness is prinicipally the result of dysfunction of the rod photoreceptors. HP:0007684|HP:0007861|HP:0007953 SNOMEDCT_US:193687000|MSH:C536122|UMLS:C3551052|MSH:C537743|UMLS:C0339535|UMLS:C4048798|UMLS:C1306122|SNOMEDCT_US:232061009 human_phenotype owl:Class HP:0030689 biolink:NamedThing Decreased glucagon level A reduced concentration of glucagon in the blood circulation. hp0009lx5z UMLS:C1295678|SNOMEDCT_US:131107006 owl:Class HP:0030687 biolink:NamedThing Abnormal glucagon level A deviation from the normal concentration of glucagon in the blood circulation. hp0009lx5z Glucagon is a 29-amino acid polypeptide that is manufactured by the alpha cells of the pancreatic islets. It plays a key role in glucose counterregulation in response to hypoglycemia. Hypoglycemia is normally a powerful stimulator of glucagon secretion. UMLS:C4073129 owl:Class HP:0012668 biolink:NamedThing Vasovagal syncope hp0009lx5z Reflex syncope|Situational syncope|Neurocardiogenic syncope peter 2014-02-15T01:33:13Z SNOMEDCT_US:398665005|UMLS:C0042420|SNOMEDCT_US:234167006|MSH:D019462|UMLS:C0340854|SNOMEDCT_US:398652001|MSH:D013575 human_phenotype owl:Class HP:0033383 biolink:NamedThing Decreased compound muscle action potential amplitude Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve. hp0009lx5z Decreased CMAP amplitude 2021-01-02 12:41:56+00:00 The CMAP is a summated voltage response from the individual muscle fibre action potentials. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). peter owl:Class HP:0030179 biolink:NamedThing Abnormal peripheral action potential amplitude An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve. hp0009lx5z UMLS:C4022596 owl:Class HP:0003189 biolink:NamedThing Long nose Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. hp0009lx5z Increased height of nose|Increased length of nose|Long nose|Increased nasal height|Increased nasal length|Elongated nose|Nasal elongation HP:0200142|HP:0005283 UMLS:C1839798 human_phenotype owl:Class HP:0005105 biolink:NamedThing Abnormal nasal morphology hp0009lx5z Abnormal nose morphology|Abnormal of morphology of nose|Abnormal of nasal shape|Abnormal of shape of nose This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. peter 2008-03-25T05:21:00Z UMLS:C4025252|Fyler:4870 owl:Class HP:0100339 biolink:NamedThing Abnormality of the os naviculare pedis hp0009lx5z doelkens 2010-10-13T04:46:42Z UMLS:C4022141 human_phenotype owl:Class HP:0032597 biolink:NamedThing Renal tubular epithelial cell sloughing At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. hp0009lx5z peter owl:Class HP:0032599 biolink:NamedThing Abnormal renal tubular epithelial morphology Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine. hp0009lx5z peter owl:Class HP:0012545 biolink:NamedThing Reduced aldolase level An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum. hp0009lx5z Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. peter 2013-12-21T09:20:49Z UMLS:C4022857 human_phenotype owl:Class HP:0012400 biolink:NamedThing Abnormal aldolase level An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. hp0009lx5z The reaction catalyzed by aldolase is a component of the glycolysis pathway. peter 2013-11-09T03:35:35Z UMLS:C4022916 owl:Class HP:0030978 biolink:NamedThing Decreased CSF/serum albumin ratio A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. hp0009lx5z 2017-06-05T10:50:18Z HPO:probinson owl:Class HP:0030981 biolink:NamedThing Abnormal CSF/serum albumin ratio A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF. hp0009lx5z HPO:probinson owl:Class HP:0100719 biolink:NamedThing Lens coloboma A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. hp0009lx5z doelkens 2011-06-06T02:16:53Z SNOMEDCT_US:204134008|UMLS:C0344516 human_phenotype owl:Class HP:0000589 biolink:NamedThing Coloboma A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. hp0009lx5z Ocular colobomas|Ocular coloboma|Notched pupil HP:0007767|HP:0007995 MSH:D003103|SNOMEDCT_US:92828000|Fyler:4311|UMLS:C0009363|SNOMEDCT_US:93390002 human_phenotype owl:Class HP:0007220 biolink:NamedThing Demyelinating motor neuropathy Demyelination of peripheral motor nerves. hp0009lx5z Demyelinating motor neuropathy demonstrates slow motor nerve conduction velocities with reduced amplitudes of motor nerve conduction and prolonged distal latencies. UMLS:C1969462 human_phenotype owl:Class HP:0007108 biolink:NamedThing Demyelinating peripheral neuropathy Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. hp0009lx5z HP:0007205 SNOMEDCT_US:23414001|UMLS:C0270922 human_phenotype owl:Class HP:0002091 biolink:NamedThing Restrictive ventilatory defect A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. hp0009lx5z Restrictive respiratory insufficiency|Restrictive respiratory syndrome|Spirometric restriction|Stiff lung or chest wall causing decreased lung volume|Restrictive respiratory disease|Restrictive deficit on pulmonary function testing|Restrictive lung disease|Restrictive deficit on pulmonary function tests The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity. HP:0002111 SNOMEDCT_US:36485005|UMLS:C0085581|UMLS:C3277226 owl:Class HP:0002795 biolink:NamedThing Abnormal respiratory system physiology hp0009lx5z Abnormal respiration|Functional respiratory abnormality|Respiratory problem Fyler:4200|UMLS:C4025677 owl:Class HP:0008846 biolink:NamedThing Severe intrauterine growth retardation Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. hp0009lx5z Intrauterine growth retardation, severe|Severe prenatal growth deficiency HP:0008906|HP:0008899 UMLS:C1855843 human_phenotype owl:Class HP:0001511 biolink:NamedThing Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. hp0009lx5z Prenatal growth failure|Prenatal onset growth retardation|IUGR|Intrauterine growth retardation, IUGR|Prenatal growth retardation|In utero growth retardation|Prenatal-onset growth retardation|Small for gestational age infant|Intrauterine retardation|Intrauterine growth failure|Intrauterine growth restriction|Prenatal growth deficiency Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. HP:0001515|HP:0008931|HP:0008862|HP:0008892 UMLS:C0015934|UMLS:C0021296|MSH:D005317|SNOMEDCT_US:22033007|UMLS:C1386048|SNOMEDCT_US:199612005|MSH:D007236 human_phenotype owl:Class HP:0008209 biolink:NamedThing Premature ovarian insufficiency Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. hp0009lx5z Premature menopause|Premature ovarian failure|Menopause praecox|Climacterium praecox|Early menopause|Primary ovarian insufficiency|Hypergonadotropic amenorrhea The causes of primary ovarian insuficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years). HP:0100805|HP:0001587 MSH:D008594|MSH:D016649|SNOMEDCT_US:373717006|UMLS:C0025322|UMLS:C0085215 owl:Class HP:0009396 biolink:NamedThing Enlarged epiphyses of the 4th finger Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the ring finger bones doelkens 2009-01-13T01:59:12Z UMLS:C4024394 human_phenotype owl:Class HP:0004915 biolink:NamedThing Impairment of galactose metabolism An impairment of galactose metabolism. hp0009lx5z Impaired galactose metabolism UMLS:C4021643 human_phenotype owl:Class HP:0032245 biolink:NamedThing Abnormal metabolism An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. hp0009lx5z 2019-01-27 12:48:52+00:00 peter owl:Class HP:0100302 biolink:NamedThing Muscle fiber tubuloreticular inclusions hp0009lx5z Muscle fibre tubuloreticular inclusions|Muscle fibre tubuloreticular aggregates|Muscle fiber tubuloreticular aggregates doelkens 2010-08-10T02:36:48Z UMLS:C4021023 human_phenotype owl:Class HP:0100303 biolink:NamedThing Muscle fiber cytoplasmatic inclusion bodies The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. hp0009lx5z Muscle fibre cytoplasmatic inclusion bodies|Muscle fibre cytoplasmic bodies|Muscle fiber cytoplasmic bodies doelkens 2010-08-10T02:39:22Z HP:0003790 UMLS:C4022157 human_phenotype owl:Class HP:0025426 biolink:NamedThing Abnormal bronchus morphology Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. hp0009lx5z Abnormality of the bronchi 2017-04-23 12:50:43+00:00 HPO:probinson HP:0002109 owl:Class HP:0005607 biolink:NamedThing Abnormal tracheobronchial morphology hp0009lx5z Tracheobronchial anomalies peter 2008-03-28T09:03:00Z HP:0005940 UMLS:C4021631|Fyler:4232 human_phenotype owl:Class HP:0007700 biolink:NamedThing Ocular anterior segment dysgenesis Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. hp0009lx5z Anterior segment developmental abnormality|Anterior chamber mesodermal anomalies|Anterior segment dysgenesis|Anterior chamber malformation|Anterior chamber cleavage disorder|Anterior segment mesencyhmal dysgenesis|Anterior chamber cleavage defect|Anterior segment ocular dysgenesis In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. HP:0007696|HP:0008040|HP:0007699 SNOMEDCT_US:65075004|UMLS:C0266525 human_phenotype owl:Class HP:0012785 biolink:NamedThing Flexion contracture of finger Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. hp0009lx5z Flexion deformity of finger Note that the term camptodactyly refers to a painless flexion contracture of the proximal interphalangeal (PIP) joint and not to a finger joint contracture in general. peter 2014-04-20T04:09:34Z UMLS:C1857304 human_phenotype owl:Class HP:0009473 biolink:NamedThing Joint contracture of the hand Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. hp0009lx5z Contractures involving the hands|Contractures of the hands doelkens 2009-01-15T09:59:59Z HP:0006096|HP:0006173|HP:0004094|HP:0001160|HP:0009409|HP:0005814|HP:0006255|HP:0010563|HP:0006215|HP:0006238|HP:0001237|HP:0009472 UMLS:C0158113|SNOMEDCT_US:86414002|MEDDRA:10010821 human_phenotype owl:Class HP:0010256 biolink:NamedThing Triangular epiphyses of the distal phalanges of the hand hp0009lx5z Triangular end part of the outermost hand bones doelkens 2009-07-06T04:23:06Z UMLS:C4023944 human_phenotype owl:Class HP:0006248 biolink:NamedThing Limited wrist movement An abnormal limitation of the mobility of the wrist. hp0009lx5z Limited wrist movement|Limited movement of the wrist UMLS:C1840088 human_phenotype owl:Class HP:0008743 biolink:NamedThing Coronal hypospadias A mild form of hypospadias in which the urethra opens just under the corona glandis. hp0009lx5z Subcoronal hypospadias UMLS:C4020787|SNOMEDCT_US:429641000124109|UMLS:C1394030 human_phenotype owl:Class HP:0011535 biolink:NamedThing Abnormal atrial arrangement Abnormality of the spatial relationship of the atria to other components of the heart. hp0009lx5z Abnormal location of heart atrium peter 2012-04-07T10:31:16Z SNOMEDCT_US:445898001|UMLS:C2959688 human_phenotype owl:Class HP:0009418 biolink:NamedThing Small epiphyses of the 3rd finger Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms. hp0009lx5z Small end part of middle finger bone doelkens 2009-01-14T02:01:59Z UMLS:C4024376 human_phenotype owl:Class HP:0010236 biolink:NamedThing Small epiphyses of the phalanges of the hand Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. hp0009lx5z Small epiphyses of the fingers|Small end part of finger bones doelkens 2009-07-06T03:31:52Z HP:0009367 UMLS:C4021305 human_phenotype owl:Class HP:0025108 biolink:NamedThing Angioma serpentinum Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis. hp0009lx5z 2016-10-29 00:31:03+00:00 Two different forms can be distinguished. Diffuse, non-segmental angioma serpiginosum occurs as a hereditary trait, and autosomal dominant transmission is presently assumed. HPO:probinson owl:Class HP:0025104 biolink:NamedThing Capillary malformation A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). hp0009lx5z 2016-10-28 23:39:18+00:00 There are many different classifications, and some authors treat the term capillary malformation as being synonymous with port wine stain (nevus flammeus). We refer to the detailed classification of Happle (PMID:25864701), which we do not completely follow. HPO:probinson owl:Class HP:4000059 biolink:NamedThing Abnormal lung development A structural defect associated with abnormal development of the lung. hp0009lx5z Developmental pulmonary anomaly 2021-06-09 12:13:11+00:00 robinp owl:Class HP:0002858 biolink:NamedThing Meningioma The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. hp0009lx5z Noncancerous growth of membranes covering brain HP:0006754 MSH:D008579|UMLS:C0025286|NCIT:C3230 human_phenotype owl:Class HP:0008940 biolink:NamedThing Generalized lymphadenopathy A generalized form of lymphadenopathy. hp0009lx5z Generalized swelling of lymph nodes|Generalised swelling of lymph nodes|Swollen lymph nodes affecting all regions of the body|Generalised lymphadenopathy UMLS:C0476486|SNOMEDCT_US:274741002 human_phenotype owl:Class HP:0002716 biolink:NamedThing Lymphadenopathy Enlargment (swelling) of a lymph node. hp0009lx5z Lymph node hyperplasia|Swollen lymph nodes HP:0002735 MSH:D000072281|UMLS:C0497156|SNOMEDCT_US:30746006 owl:Class HP:0006499 biolink:NamedThing Abnormality of femoral epiphysis An anomaly of a growth plate of a femur. hp0009lx5z Abnormality of thighbone end part peter 2008-03-28T06:28:00Z HP:0008811|HP:0006412 UMLS:C4025034 owl:Class HP:0006500 biolink:NamedThing Abnormality of lower limb epiphysis morphology An anomaly of one or more epiphyses of one or both legs. hp0009lx5z Abnormal shape of end part of lower limb end bone|Abnormality involving the epiphyses of the lower limbs peter 2008-03-28T06:31:00Z UMLS:C4021595 human_phenotype owl:Class HP:0010677 biolink:NamedThing Enuresis nocturna Enuresis occurring during sleeping hours. hp0009lx5z Nocturnal enuresis sandra1 2010-03-01T09:11:31Z MSH:D053206|SNOMEDCT_US:8009008|UMLS:C0270327 human_phenotype owl:Class HP:0000805 biolink:NamedThing Enuresis Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. hp0009lx5z MSH:D004775|UMLS:C0014394|SNOMEDCT_US:8009008 human_phenotype owl:Class HP:0000674 biolink:NamedThing Anodontia The absence of all teeth from the normal series by a failure to develop. hp0009lx5z Complete dental agenesis|Complete agenesis of all teeth|Total absence of all teeth|Total anodontia|Missing all teeth|Failure of development of all teeth|Anodontia vera|Complete anodontia Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth. HP:0006484 SNOMEDCT_US:16958000|UMLS:C4280622|MSH:D000848|SNOMEDCT_US:26624006|UMLS:C0399352 owl:Class HP:0009804 biolink:NamedThing Tooth agenesis The absence of one or more teeth from the normal series by a failure to develop hp0009lx5z Teeth, agenesis|Decreased tooth count|Decreased number of teeth|Reduced number of teeth|Tooth agenesis|Dental agenesis|Fewer teeth than normal|Missing some teeth|Failure of development of some teeth Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth. 2009-02-14T06:20:53Z UMLS:C4024202|UMLS:C4083050 owl:Class HP:0007862 biolink:NamedThing Retinal calcification Deposition of calcium salts in the retina. hp0009lx5z UMLS:C1867289 human_phenotype owl:Class HP:0010766 biolink:NamedThing Ectopic calcification Deposition of calcium salts in a tissue or location in which calcification does not normally occur. hp0009lx5z doelkens 2010-04-27T09:52:59Z UMLS:C3806226 human_phenotype owl:Class HP:0031167 biolink:NamedThing Triggered by ingestion of potassium-rich food Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium. hp0009lx5z Triggered by ingestion of K-rich food|Potassium-rich food triggered symptoms 2017-06-18 19:18:01+00:00 In contrast to paramyotonia congenita or hyperkalaemic periodic paralysis, potassium-aggravated myotonias (PAM) patients show no muscle weakness and hardly any cold sensitivity. However, they show an aggravation of their myotonia after ingestion of potassium, which distinguishes them from patients with chloride channelopathies. peter owl:Class HP:0041117 biolink:NamedThing Fractured lower limb segment A partial or complete breakage of the lower limb segment. hp0009lx5z bone lower limb segment owl:Class HP:0031375 biolink:NamedThing Refractory Applies to a sign or symptom that is difficult to treat or cure. hp0009lx5z 2017-09-02 01:54:32+00:00 peter owl:Class HP:0012823 biolink:NamedThing Clinical modifier This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. hp0009lx5z Phenotypic modifier Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term. peter 2014-06-06T06:34:24Z HP:0000004 UMLS:C4021064 human_phenotype owl:Class HP:0010022 biolink:NamedThing Pseudoepiphysis of the 1st metacarpal The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal. hp0009lx5z This feature can be seen for example in Holt-Oram Syndrome. doelkens 2009-05-27T04:02:50Z UMLS:C4024101 human_phenotype owl:Class HP:0009193 biolink:NamedThing Pseudoepiphyses of the metacarpals A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. hp0009lx5z Accessory proximal metacarpal ossification centres|Accessory proximal metacarpal ossification centers|Metacarpal pseudoepiphyses doelkens 2008-12-30T02:03:34Z HP:0006164|HP:0006091 UMLS:C1860253 human_phenotype owl:Class HP:0410378 biolink:NamedThing Decreased proportion of naive CD4 T cells An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells. hp0009lx5z Decreased proportion of CD4+CD45RA+ cells|Reduced proportion of naive CD4 T cells|Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells owl:Class HP:0410373 biolink:NamedThing Abnormal proportion of naive CD4 T cells Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells. hp0009lx5z Abnormal proportion of CD4+CD45RA+ cells|Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells owl:Class HP:0410352 biolink:NamedThing Increased complex N-glycan level An abnormal increase in the concentration of complex N-glycans on glycoproteins. hp0009lx5z Increased concentration of complex N-glycans on glycoproteins owl:Class HP:0410351 biolink:NamedThing Abnormal complex N-glycan level An abnormal concentration of complex N-glycans on glycoproteins. hp0009lx5z Abnormal concentration of complex N-glycans on glycoproteins owl:Class HP:0033004 biolink:NamedThing Palmar warts Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). hp0009lx5z peter owl:Class HP:0040211 biolink:NamedThing Abnormal skin morphology of the palm An abnormality of the skin of the palm, that is, the skin of the front of the hand. hp0009lx5z HPO:skoehler UMLS:C4073159 owl:Class HP:0008762 biolink:NamedThing Repetitive compulsive behavior hp0009lx5z Repetitive compulsive behavior|Repetitive compulsive behaviour UMLS:C1969697 human_phenotype owl:Class HP:0000733 biolink:NamedThing Stereotypy A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral. hp0009lx5z Stereotyped behavior|Stereotyped, repetitive behaviour|Stereotypical motor behaviors|Repetitive or self-injurious behaviour|Stereotyped behaviours|Repetitive or self-injurious behavior|Stereotypic behaviours|Stereotypical motor behavior|Stereotyped behaviors|Stereotypic behaviour|Stereotypic behavior|Stereotyped behaviour|Stereotypic behaviors|Repetitive movements|Stereotypical motor behaviours|Stereotyped, repetitive behavior An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. HP:0008759|HP:0008758 SNOMEDCT_US:5507002|UMLS:C0038273|MSH:D013239|SNOMEDCT_US:84328007|UMLS:C0038271|MSH:D019956 owl:Class HP:0007361 biolink:NamedThing Abnormal pons morphology A structural abnormality of the pons. hp0009lx5z Abnormality of the pons The pons is the portion of the brainstem superior to the medulla oblongata. peter 2008-03-31T05:32:00Z UMLS:C4024905 owl:Class HP:0100630 biolink:NamedThing Neoplasia of the nasopharynx hp0009lx5z Tumor of the nasopharynx|Tumour of the nasopharynx|Neoplasm of the nasopharynx|Nasopharyngeal neoplasm doelkens 2010-12-29T02:23:48Z MSH:D009303|NCIT:C3262|UMLS:C0027439|SNOMEDCT_US:126680004 human_phenotype owl:Class HP:0100606 biolink:NamedThing Neoplasm of the respiratory system A tumor (abnormal growth of tissue) of the respiratory system. hp0009lx5z Respiratory system tumour|Respiratory system tumor doelkens 2010-12-27T06:08:41Z MSH:D012142|SNOMEDCT_US:126667002|NCIT:C3262|UMLS:C0035244|SNOMEDCT_US:448708002 human_phenotype owl:Class HP:0000104 biolink:NamedThing Renal agenesis Agenesis, that is, failure of the kidney to develop during embryogenesis and development. hp0009lx5z Renal aplasia|Missing kidney|Absent kidney Renal agenesis can occur as a unilateral or bilateral trait. HP:0000785|HP:0004745|HP:0008680 UMLS:C0542519|SNOMEDCT_US:204942005|Fyler:4503 human_phenotype owl:Class HP:0008678 biolink:NamedThing Renal hypoplasia/aplasia Absence or underdevelopment of the kidney. hp0009lx5z Renal aplasia/hypoplasia|Renal agenesis/hypoplasia|Absent/underdeveloped kidney|Absent/small kidney HP:0008701|HP:0004744 UMLS:C1857453 human_phenotype owl:Class HP:0100133 biolink:NamedThing Abnormality of the pubic hair Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty. hp0009lx5z Abnormality of the pubic hair doelkens 2010-06-24T10:15:30Z UMLS:C4022288 owl:Class HP:0009888 biolink:NamedThing Abnormality of secondary sexual hair Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. hp0009lx5z Abnormality of secondary sexual hair peter 2009-04-30T06:18:33Z UMLS:C4024171 owl:Class HP:0009112 biolink:NamedThing Aplasia of the left hemidiaphragm Congenital absence of the left half of the diaphragm. hp0009lx5z Left diaphragmatic hernia|Absent left hemidiaphragm peter 2008-04-05T10:43:00Z HP:0040048 UMLS:C4024593 human_phenotype owl:Class HP:0000776 biolink:NamedThing Congenital diaphragmatic hernia The presence of a hernia of the diaphragm present at birth. hp0009lx5z Diaphragmatic hernia Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period. HP:0006604 UMLS:C0235833|MSH:D065630|SNOMEDCT_US:17190001 human_phenotype owl:Class HP:0100672 biolink:NamedThing Vaginal hernia The presence of a hernia of the vagina. hp0009lx5z doelkens 2010-12-30T01:35:05Z UMLS:C1442998|SNOMEDCT_US:397786004 human_phenotype owl:Class HP:0100823 biolink:NamedThing Genital hernia hp0009lx5z doelkens 2011-06-09T05:11:49Z UMLS:C4021962 human_phenotype owl:Class HP:0005464 biolink:NamedThing Craniofacial osteosclerosis Abnormally increased density of craniofacial bone tissue. hp0009lx5z Cranial sclerosis UMLS:C4025193|UMLS:C1845805 human_phenotype owl:Class HP:0011821 biolink:NamedThing Abnormality of facial skeleton An abnormality of one or more of the set of bones that make up the facial skeleton. hp0009lx5z Abnormality of facial skeleton|Anomaly of facial bones|Malformation of facial bones|Malformation of facial skeleton|Abnormality of facial bones|Anomaly of facial skeleton|Deformity of facial skeleton|Deformity of the facial bones The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. peter 2012-04-29T04:37:30Z SNOMEDCT_US:433096001|UMLS:C2315229 human_phenotype owl:Class HP:0009454 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 3rd finger Uneven (irregular) increase in bone density of the proximal phalanx of the third finger. hp0009lx5z Uneven increase in bone density in the innermost bone of the middle finger doelkens 2009-01-14T04:33:41Z UMLS:C4024351 human_phenotype owl:Class HP:0100909 biolink:NamedThing Sclerosis of the proximal phalanx of the 3rd finger hp0009lx5z Increased bone density in innermost bone of the middle finger UMLS:C4021933 human_phenotype owl:Class HP:0100192 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 4th toe hp0009lx5z Bracket shaped end part of the innermost bone of 4th toe doelkens 2010-06-24T04:54:59Z UMLS:C4022229 human_phenotype owl:Class HP:0100096 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 4th toe hp0009lx5z Abnormality of the end part of the innermost bone of the 4th toe doelkens 2010-06-24T10:02:24Z UMLS:C4022325 human_phenotype owl:Class HP:0005974 biolink:NamedThing Episodic ketoacidosis Intermittent episodes of ketoacidosis. hp0009lx5z Ketoacidosis, episodic HP:0005981|HP:0005983 UMLS:C1859860 human_phenotype owl:Class HP:0001993 biolink:NamedThing Ketoacidosis Acidosis resulting from accumulation of ketone bodies. hp0009lx5z Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism. UMLS:C0220982|SNOMEDCT_US:56051008 human_phenotype owl:Class HP:0100838 biolink:NamedThing Recurrent cutaneous abscess formation An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. hp0009lx5z doelkens 2011-06-09T06:35:07Z UMLS:C4021957 human_phenotype owl:Class HP:0031292 biolink:NamedThing Cutaneous abscess A circumscribed area of pus or necrotic debris in the skin. hp0009lx5z Skin abscess 2017-08-13 21:21:54+00:00 peter owl:Class HP:0008383 biolink:NamedThing Slow-growing nails Nails whose growth is slower than normal. hp0009lx5z Slow-growing nails HP:0008411 UMLS:C1835238 human_phenotype owl:Class HP:0030807 biolink:NamedThing Abnormal nail growth Nail whose growth pattern or speed deviates from normal. hp0009lx5z UMLS:C1610609 owl:Class HP:0012385 biolink:NamedThing Camptodactyly The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. hp0009lx5z Permanent flexion of the finger or toe hecht 2013-10-20T08:08:19Z UMLS:C0685409|SNOMEDCT_US:29271008 human_phenotype owl:Class HP:0030044 biolink:NamedThing Flexion contracture of digit A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. hp0009lx5z UMLS:C1839864 owl:Class HP:0030372 biolink:NamedThing Decreased proportion of naive B cells A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. hp0009lx5z UMLS:C4072911 owl:Class HP:0030370 biolink:NamedThing Abnormal proportion of naive B cells A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. hp0009lx5z UMLS:C4072909 owl:Class HP:0004993 biolink:NamedThing Slender long bones with narrow diaphyses Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. hp0009lx5z Slender long bones with narrow shaft UMLS:C2675547 human_phenotype owl:Class HP:0002048 biolink:NamedThing Renal cortical atrophy Atrophy of the cortex of the kidney. hp0009lx5z UMLS:C4025730 human_phenotype owl:Class HP:0012585 biolink:NamedThing Renal atrophy Atrophy of the kidney. hp0009lx5z Kidney degeneration peter 2014-01-16T03:21:19Z UMLS:C0341698|SNOMEDCT_US:197659005 human_phenotype owl:Class HP:0031529 biolink:NamedThing Focal subretinal deposits Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution. hp0009lx5z 2017-09-24 00:49:30+00:00 peter owl:Class HP:0031528 biolink:NamedThing Subretinal deposits Deposits accumulating between the outer retina and the retinal pigment epithelium. hp0009lx5z 2017-09-24 00:49:01+00:00 peter owl:Class HP:0000811 biolink:NamedThing Abnormal external genitalia hp0009lx5z Abnormal external genitalia UMLS:C4025825 human_phenotype owl:Class HP:0012243 biolink:NamedThing Abnormal reproductive system morphology A structural or developmental anomaly of any of the tissues involved in the genital system. hp0009lx5z Abnormal genital system morphology peter 2013-04-02T07:02:20Z UMLS:C4021096 human_phenotype owl:Class HP:0008695 biolink:NamedThing Transient nephrotic syndrome hp0009lx5z Transient nephrosis UMLS:C4024638 owl:Class HP:0000100 biolink:NamedThing Nephrotic syndrome Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. hp0009lx5z Nephrosis In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl. HP:0004718|HP:0008727|HP:0008638|HP:0000801 MSH:D009404|SNOMEDCT_US:52254009|UMLS:C0027726 owl:Class HP:0000196 biolink:NamedThing Lower lip pit Depression located on the vermilion of the lower lip, usually paramedian. hp0009lx5z A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). UMLS:C1861544 human_phenotype owl:Class HP:0000178 biolink:NamedThing Abnormality of lower lip An abnormality of the lower lip. hp0009lx5z Malformation of the lower lip|Anomaly of the lower lip|Deformity of the lower lip|Abnormality of lower lip UMLS:C4025883 human_phenotype owl:Class HP:0011168 biolink:NamedThing Focal seizure with eyelid myoclonia Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures. hp0009lx5z Eyelid myoclonias peter 2011-10-18T02:39:07Z UMLS:C4023500 owl:Class HP:0010383 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 5th toe hp0009lx5z Absent/small pinkie toe bones|Absent/small pinky toe bones|Absent/underdeveloped pinky toe bones|Absent/small little toe bones doelkens 2009-07-16T11:52:18Z UMLS:C4023867 human_phenotype owl:Class HP:0000791 biolink:NamedThing Uric acid nephrolithiasis The presence of uric acid-containing calculi (stones) in the kidneys. hp0009lx5z Uric acid urolithiasis|Uric acid stones UMLS:C0403719|SNOMEDCT_US:267441009 human_phenotype owl:Class HP:0000232 biolink:NamedThing Everted lower lip vermilion An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. hp0009lx5z Drooping lower lip|Eclabium of lower lip|Everted lower lip|Protruding lower lip|Everted prominent lower lip|Outward turned lower lip In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. HP:0004665|HP:0000184|HP:0009093|HP:0002264|HP:0009086|HP:0002712 UMLS:C1866234|UMLS:C1853246 human_phenotype owl:Class HP:0100164 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 3rd toe hp0009lx5z doelkens 2010-06-24T10:24:45Z UMLS:C4022257 human_phenotype owl:Class HP:0100062 biolink:NamedThing Pseudoepiphyses of the 3rd toe hp0009lx5z doelkens 2010-06-24T09:58:55Z UMLS:C4022359 human_phenotype owl:Class HP:0010765 biolink:NamedThing Palmar hyperkeratosis Abnormal thickening of the skin localized to the palm of the hand. hp0009lx5z peter 2010-04-24T03:53:19Z UMLS:C4023710 owl:Class HP:0100605 biolink:NamedThing Neoplasm of the larynx hp0009lx5z doelkens 2010-12-27T06:07:16Z NCIT:C3262|UMLS:C0023055|MSH:D007822|SNOMEDCT_US:126692004 human_phenotype owl:Class HP:0000269 biolink:NamedThing Prominent occiput Increased convexity of the occiput (posterior part of the skull). hp0009lx5z Prominent posterior head|Prominent back of the skull|Protruding occiput|Prominent posterior skull|Prominent back of the head|Prominent posterior cranium|Protruding back of the head Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately. HP:0004489 UMLS:C1853737|UMLS:C4280652 human_phenotype owl:Class HP:0011217 biolink:NamedThing Abnormal shape of the occiput An abnormal shape of occiput. hp0009lx5z Abnormal shape of posterior cranium|Abnormal shape of posterior head|Abnormal shape of posterior skull|Abnormal shape of the back of the skull|Abnormal shape of the back of the head peter 2011-12-03T10:14:06Z UMLS:C4023459 human_phenotype owl:Class HP:0012744 biolink:NamedThing Femoral aplasia Failure of the femur to develop. hp0009lx5z Absent thighbone|Aplasia of the femur|Absent femur peter 2014-03-23T05:14:34Z SNOMEDCT_US:47276000|UMLS:C0265629 human_phenotype owl:Class HP:0009050 biolink:NamedThing Quadriceps muscle atrophy Muscular atrophy involving the quadriceps muscle. hp0009lx5z Wasting of quad muscles UMLS:C4024603 human_phenotype owl:Class HP:0008956 biolink:NamedThing Proximal lower limb amyotrophy Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. hp0009lx5z Amyotrophy involving the thigh|Wasting of thigh muscle|Amyotrophy of the thigh musculature|Thigh muscle atrophy|Proximal lower limb muscle atrophy HP:0003748|HP:0008974 UMLS:C1836767 human_phenotype owl:Class HP:0033789 biolink:NamedThing Triggered by cheese ingestion Applies to a sign or symptom that is provoked or brought about by eating cheese. hp0009lx5z 2021-05-07 11:11:07+00:00 Cheese contains tyramine, which is thought to be responsible for tachycardia and hypertension that can be tirggered by eating cheese in persons with Trimethylaminuria. peter owl:Class HP:0006722 biolink:NamedThing Small intestine carcinoid hp0009lx5z UMLS:C1868072 human_phenotype owl:Class HP:0100833 biolink:NamedThing Neoplasm of the small intestine The presence of a neoplasm of the small intestine. hp0009lx5z Small intestine tumor|Small intestine tumour An estimated 40% of small bowel cancers are adenocarcinomas, 40% are carcinoids, 15% are sarcomas (GI stromal tumors), and less than 5% are lymphomas. doelkens 2011-06-09T06:03:02Z UMLS:C0345832|SNOMEDCT_US:126832004|NCIT:C3262 human_phenotype owl:Class HP:0000307 biolink:NamedThing Pointed chin A marked tapering of the lower face to the chin. hp0009lx5z Pointy chin|Witch's chin|Small pointed chin|Pointed mention region|Pointed chin The two rami of the mandible meet at an acute angle. HP:0005330 UMLS:C1844505 human_phenotype owl:Class HP:0000306 biolink:NamedThing Abnormality of the chin An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. hp0009lx5z Abnormality of the chin|Abnormality of the menton|Anomaly of the chin|Deformity of the chin|Malformation of the chin UMLS:C4025864 human_phenotype owl:Class HP:0012593 biolink:NamedThing Nephrotic range proteinuria Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children. hp0009lx5z peter 2014-01-16T05:50:21Z SNOMEDCT_US:264867001|UMLS:C0445118 owl:Class HP:0000093 biolink:NamedThing Proteinuria Increased levels of protein in the urine. hp0009lx5z Protein in urine|High urine protein levels UMLS:C0033687|MSH:D011507|SNOMEDCT_US:29738008 owl:Class HP:0004927 biolink:NamedThing Pulmonary artery dilatation An abnormal widening of the diameter of the pulmonary artery. hp0009lx5z SNOMEDCT_US:251047005|UMLS:C0428851 human_phenotype owl:Class HP:0030966 biolink:NamedThing Abnormal pulmonary artery morphology An abnormality of the structure of the pulmonary artery. hp0009lx5z 2017-04-18 13:29:12+00:00 robinp owl:Class HP:0009458 biolink:NamedThing Aplasia of the proximal phalanx of the 3rd finger Absence of the proximal phalanx of the 3rd finger. hp0009lx5z Absent innermost bone of middle finger doelkens 2009-01-14T04:35:28Z UMLS:C4024347 human_phenotype owl:Class HP:0002814 biolink:NamedThing Abnormality of the lower limb An abnormality of the leg. hp0009lx5z Abnormality of the leg|Abnormality of the lower limb|Lower limb deformities UMLS:C1096086|SNOMEDCT_US:449715001 human_phenotype owl:Class HP:0010834 biolink:NamedThing Trophic changes related to pain Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails. hp0009lx5z Trophic changes peter 2010-07-10T07:23:26Z UMLS:C4021220 human_phenotype owl:Class HP:0010832 biolink:NamedThing Abnormality of pain sensation Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. hp0009lx5z peter 2010-07-10T07:15:58Z UMLS:C4023691 human_phenotype owl:Class HP:0004792 biolink:NamedThing Rectoperineal fistula The presence of a fistula between the perineum and the rectum. hp0009lx5z UMLS:C0240880 human_phenotype owl:Class HP:0100590 biolink:NamedThing Rectal fistula The presence of a fistula affecting the rectum. hp0009lx5z doelkens 2010-12-27T04:11:26Z SNOMEDCT_US:80736008|MSH:D012003|UMLS:C0034884 owl:Class HP:0032221 biolink:NamedThing Periportal emperipolesis The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area. hp0009lx5z 2019-01-21 01:20:50+00:00 Emperipolesis is derived from the Greek (em-inside; peri-around; polemai-wander about) and is as the active penetration of one cell by another which remains intact. It differs from phagocytosis in that an engulfed cell exists temporarily within another cell and with an intact normal structure while in phagocytosis, the engulfed cell is destroyed by the protective action of lysosomal enzymes. peter owl:Class HP:0030146 biolink:NamedThing Abnormal liver parenchyma morphology A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. hp0009lx5z UMLS:C4022605 owl:Class HP:0009615 biolink:NamedThing Complete duplication of the first metacarpal Complete duplication of the first metacarpal bone. hp0009lx5z Complete duplication of the first long bone of hand In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated. doelkens 2009-01-29T04:06:17Z UMLS:C4024271 human_phenotype owl:Class HP:0009609 biolink:NamedThing Duplication of the 1st metacarpal Partail or complete duplication of the first metacarpal bone. hp0009lx5z Partial/complete duplication of the 1st metacarpal|Partial/complete duplication of the 1st long bone of hand In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side. doelkens 2009-01-29T03:33:31Z UMLS:C4021426 human_phenotype owl:Class HP:0005214 biolink:NamedThing Intestinal obstruction Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. hp0009lx5z Intestinal blockage|Bowel obstruction|Intestinal obstruction HP:0005239 MSH:D007415|UMLS:C0021843|SNOMEDCT_US:81060008 human_phenotype owl:Class HP:0012469 biolink:NamedThing Infantile spasms Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). hp0009lx5z peter 2013-11-26T05:36:45Z UMLS:C3887898 human_phenotype owl:Class HP:0011097 biolink:NamedThing Epileptic spasm A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages hp0009lx5z Salaam seizures|Epileptic spasms|Salaam convulsion|Salaam seizure|West syndrome|Salaam convulsions The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography). peter 2011-05-04T01:56:31Z MSH:D013036|UMLS:C1527366|SNOMEDCT_US:28055006|UMLS:C0037769 human_phenotype owl:Class HP:0000052 biolink:NamedThing Urethral atresia, male Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males. hp0009lx5z UMLS:C4025894 human_phenotype owl:Class HP:0000068 biolink:NamedThing Urethral atresia Congenital anomaly characterized by closure or failure to develop an opening in the urethra. hp0009lx5z Urethral opening absent|Absent urethral opening UMLS:C1610065 human_phenotype owl:Class HP:0041196 biolink:NamedThing Fractured distal epiphysis of radius A partial or complete breakage of the distal epiphysis of radius. hp0009lx5z bone distal epiphysis of radius owl:Class HP:0003841 biolink:NamedThing Fragmented epiphyses of the upper limbs hp0009lx5z Fragmented end part of upper limb bones UMLS:C4025559 human_phenotype owl:Class HP:0032414 biolink:NamedThing Hydroxylysinuria The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. hp0009lx5z 2019-02-24 21:34:45+00:00 peter owl:Class HP:0001838 biolink:NamedThing Rocker bottom foot The presence of both a prominent heel and a convex contour of the sole. hp0009lx5z Rocker-bottom feet|Rocker bottom foot|Congenital vertical talus|Rocker bottom feet|Rockerbottom feet Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis. HP:0001835|HP:0010218|HP:0004693 UMLS:C0240912|MEDDRA:10066242|SNOMEDCT_US:205359003|MSH:D005413|MSH:C536345|SNOMEDCT_US:205082007 human_phenotype owl:Class HP:0041143 biolink:NamedThing Fractured tibia A partial or complete breakage of the tibia. hp0009lx5z bone tibia|Fracture of the tibia|Tibial fracture|Broken tibia owl:Class HP:0003939 biolink:NamedThing Humeroulnar synostosis An abnormal osseous union (fusion) between the ulna and the humerus. hp0009lx5z Humeral ulnar synostosis UMLS:C0431799|SNOMEDCT_US:205330003 human_phenotype owl:Class HP:0003938 biolink:NamedThing Synostosis involving the elbow hp0009lx5z Bone fusion involving the elbow UMLS:C4025494 human_phenotype owl:Class HP:0045034 biolink:NamedThing Elevated urinary aminoisobutyric acid An increased amount of 3-aminoisobutyric acid in the urine. hp0009lx5z HPO:skoehler UMLS:C4022393 owl:Class HP:0011124 biolink:NamedThing Abnormal epidermal morphology An abnormality of the morphology of the epidermis. hp0009lx5z Abnormality of epidermal morphology peter 2011-06-12T10:11:28Z UMLS:C4023526 owl:Class HP:0033137 biolink:NamedThing Abnormal pulmonary alveolar system morphology A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli. hp0009lx5z 2020-09-09 13:40:22+00:00 peter owl:Class HP:0040222 biolink:NamedThing Maternal thrombophilia An increased tendency towards thrombosis in the mother during a pregnancy. hp0009lx5z Maternal thrombophilia has been linked to an increased incidence of placental abruption, as well as other adverse pregnancy outcomes. It is believed that the increased obstetrical risk is mediated through placental vascular dysfunction. Placental thrombosis can then result in subsequent ischemic complications, such as fetal loss, preeclampsia, and fetal growth restriction. Placental abruption has been identified as being part of the spectrum of ischemic placental disease and is postulated to be a chronic disease process (PMID:25401392). UMLS:C4280721 owl:Class HP:0002686 biolink:NamedThing Prenatal maternal abnormality hp0009lx5z Maternal health problem UMLS:C4025690 human_phenotype owl:Class HP:0000732 biolink:NamedThing Inflexible adherence to routines or rituals hp0009lx5z UMLS:C1837653 human_phenotype owl:Class HP:0000708 biolink:NamedThing Behavioral abnormality An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. hp0009lx5z Behavioral changes|Behavioural disturbances|Behavioural abnormality|Behavioural symptoms|Behavioural/Psychiatric abnormality|Psychiatric disorders|Psychiatric disturbances|Behavioural changes|Behavioral problems|Behavioural disorders|Behavioral disturbances|Behavioral symptoms|Behavioural problems|Behavioral abnormality|Behavioral/psychiatric abnormalities|Behavioral disorders HP:0000715|HP:0002456|HP:0002368 UMLS:C0233514|MSH:D000066553|MSH:D001526|SNOMEDCT_US:277843001|SNOMEDCT_US:25786006|UMLS:C0004941 human_phenotype owl:Class HP:0025173 biolink:NamedThing Nodular septal thickening on pulmonary HRCT Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa. hp0009lx5z 2016-12-04 19:30:08+00:00 HPO:probinson owl:Class HP:0030879 biolink:NamedThing Interlobular septal thickening Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. hp0009lx5z Interlobular septal thickening on pulmonary HRCT|Septal lines (pulmonary CT finding)|Peripheral lines (pulmonary CT finding)|Short lines (pumonary CT finding)|Interlobular lines (pulmonary CT finding)|Septal thickening (pulmonary CT finding) Interlobular septa are 10-20nm long structures at the border of the secondary pulmonary lobules and which are usually perpendicular to the pleura in the periphery of the lung. Interlobular septa are composed of connective tissue and contain pulmonary venules and lymphatics. Diseases that affect one of the components of the interlobular septa may lead to thickening of the septa, which makes the visible on computed tomography (CT) scans. Some of the diseases that may be associated with this phenotypic feature are pulmonary edema, pulmonary lymphangitis carcinomatosis, leukemic or lymphomic involvement of the lung, diffuse alveolar hemorrhage, Nieman-Pick disease, and pneumonia. UMLS:C4280727 owl:Class HP:0100617 biolink:NamedThing Testicular seminoma The presence of a seminoma, an undifferentiated germ cell tumor of the testis. hp0009lx5z doelkens 2010-12-28T11:42:18Z SNOMEDCT_US:255107005|UMLS:C0036631|SNOMEDCT_US:36741007|NCIT:C9309|SNOMEDCT_US:443675005|MSH:D018239 human_phenotype owl:Class HP:0009997 biolink:NamedThing Duplication of phalanx of hand This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. hp0009lx5z Duplication of finger bones doelkens 2009-05-26T02:28:25Z HP:0009143 UMLS:C4021349 human_phenotype owl:Class HP:0032516 biolink:NamedThing Invasive dermatophyte infection Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails. hp0009lx5z 2019-05-26 10:24:20+00:00 The most common presentation of dermatophytosis in clinical practice is the appearance of scaly, cutaneous lesions found on the trunk in tinea coporis (ringworm), the feet or toes in tinea pedis (athlete's foot), the crural fold in tinea cruris (jock itch), the scalp in tinea capitis (cradle cap), or a discoloration of the fingernails or toenails in tinea unguium (onychomycosis). Dermatophytosis is a typically noninvasive infection but can evolve into a more aggressive disease in the immunocompromised host. peter owl:Class HP:0032162 biolink:NamedThing Unusual skin infection A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection. hp0009lx5z 2018-12-09 12:47:37+00:00 peter owl:Class HP:0001022 biolink:NamedThing Albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). hp0009lx5z Achromasia|Albinism MSH:D000417|UMLS:C0001916|UMLS:C0333913|SNOMEDCT_US:15890002|SNOMEDCT_US:18064000 human_phenotype owl:Class HP:0005599 biolink:NamedThing Hypopigmentation of hair hp0009lx5z Loss of hair colour|Loss of hair color|Hair hypopigmentation UMLS:C3278401 owl:Class HP:0009711 biolink:NamedThing Retinal capillary hemangioma A benign vascular tumor of the retina without any neoplastic characteristics. hp0009lx5z Retinal hemangioblastoma peter 2009-01-30T11:08:05Z NCIT:C3801|UMLS:C0730303|SNOMEDCT_US:312935003|UMLS:C1514915 human_phenotype owl:Class HP:0007988 biolink:NamedThing Macular hypopigmentation Decreased amount of pigmentation in the macula lutea. hp0009lx5z UMLS:C4024759 human_phenotype owl:Class HP:0008002 biolink:NamedThing Abnormality of macular pigmentation Abnormality of macular or foveal pigmentation. hp0009lx5z Macular pigmentary changes UMLS:C1837087|UMLS:C4024756 human_phenotype owl:Class HP:0002280 biolink:NamedThing Enlarged cisterna magna Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. hp0009lx5z Large cisterna magna|Mega cisterna magna Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture. UMLS:C1853377 owl:Class HP:0005445 biolink:NamedThing Enlarged posterior fossa Abnormal increased size of the posterior cranial fossa. hp0009lx5z Widened posterior fossa UMLS:C1855889 owl:Class HP:0031240 biolink:NamedThing Juxtafoveal choroidal neovascularization A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea. hp0009lx5z 2017-07-02 21:26:56+00:00 peter owl:Class HP:0011506 biolink:NamedThing Choroidal neovascularization Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye. hp0009lx5z This is a common symptom of the degenerative maculopathy wet age-related macular degeneration. peter 2012-04-06T09:28:46Z UMLS:C4023323 human_phenotype owl:Class HP:0000966 biolink:NamedThing Hypohidrosis Abnormally diminished capacity to sweat. hp0009lx5z Inadequate sweating|Decreased ability to sweat|Oligohidrosis|Sweating, decreased|Decreased sweating HP:0007551|HP:0007571 MEDDRA:10021013|UMLS:C0020620|MSH:D007007|SNOMEDCT_US:45004005 human_phenotype owl:Class HP:0007550 biolink:NamedThing Hypohidrosis or hyperhidrosis hp0009lx5z Lack of sweating or excessive sweating UMLS:C4021831 human_phenotype owl:Class HP:0009676 biolink:NamedThing Bracket epiphysis of the distal phalanx of the thumb An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of thumb outermost long bone doelkens 2009-01-30T09:18:09Z UMLS:C4024241 human_phenotype owl:Class HP:0009687 biolink:NamedThing Bracket epiphyses of the thumb An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the thumb bone doelkens 2009-01-30T09:20:16Z UMLS:C4024232 human_phenotype owl:Class HP:0001750 biolink:NamedThing Single ventricle The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. hp0009lx5z Common ventricle Fyler:0200|UMLS:C0152424|SNOMEDCT_US:45503006|Fyler:200 human_phenotype owl:Class HP:0025538 biolink:NamedThing Palmar edema An abnormal accumulation of fluid beneath the skin on the palm of the hand. hp0009lx5z Palmar oedema 2017-05-18 01:30:09+00:00 HPO:probinson owl:Class HP:0002202 biolink:NamedThing Pleural effusion The presence of an excessive amount of fluid in the pleural cavity. hp0009lx5z Fluid around lungs MSH:D010996|SNOMEDCT_US:60046008|UMLS:C0032227 human_phenotype owl:Class HP:0010024 biolink:NamedThing Epiphyseal stippling of the first metacarpal The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone. hp0009lx5z Speckled calcifications in the end part of the first long bone of hand|Stippling of the epiphysis of the 1st metacarpal doelkens 2009-05-27T04:02:50Z UMLS:C4021345 human_phenotype owl:Class HP:0009195 biolink:NamedThing Epiphyseal stippling of the metacarpals The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals. hp0009lx5z Speckled calcifications in end part of the long bone of hand|Stippling of the epiphyses of the metacarpals doelkens 2008-12-30T02:03:34Z UMLS:C4021514 human_phenotype owl:Class HP:0001115 biolink:NamedThing Posterior polar cataract A polar cataract that affects the posterior pole of the lens. hp0009lx5z Polar cataract, posterior UMLS:C1850191 human_phenotype owl:Class HP:0010696 biolink:NamedThing Polar cataract A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. hp0009lx5z peter 2010-03-20T02:36:22Z UMLS:C2025392 human_phenotype owl:Class HP:0003111 biolink:NamedThing Abnormal blood ion concentration Abnormality of the homeostasis (concentration) of a monoatomic ion. hp0009lx5z Electrolyte disorders|Abnormality of ion homeostasis HP:0003253 UMLS:C4025654|SNOMEDCT_US:237840007|UMLS:C1704431 human_phenotype owl:Class HP:0032180 biolink:NamedThing Abnormal circulating metabolite concentration An abnormal level of an analyte measured in the blood. hp0009lx5z 2019-01-12 13:45:59+00:00 peter owl:Class HP:0001595 biolink:NamedThing Abnormal hair morphology An abnormality of the hair. hp0009lx5z Abnormality of the hair shaft|Abnormality of the hair|Hair abnormality UMLS:C0157733|UMLS:C2677869 owl:Class HP:0004099 biolink:NamedThing Macrodactyly Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. hp0009lx5z Finger overgrowth|Megalodactyly There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width. MEDDRA:10025386|UMLS:C0265552|SNOMEDCT_US:48449000|MSH:C562546 human_phenotype owl:Class HP:0006665 biolink:NamedThing Coat hanger sign of ribs An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). hp0009lx5z Coat hanger sign of ribs The coat hanger abnormality of the ribs is said to be a useful diagnostic marker of paternal uniparental disomy of chromosome 14. UMLS:C4025010 human_phenotype owl:Class HP:0000772 biolink:NamedThing Abnormality of the ribs An anomaly of the rib. hp0009lx5z Rib anomalies|Rib abnormalities|Abnormality of the ribs HP:0006618 UMLS:C1842083 human_phenotype owl:Class HP:0011267 biolink:NamedThing Microtia, third degree Presence of some auricular structures, but none of these structures conform to recognized ear components. hp0009lx5z Third-degree microtia|Abnormal shape/structure of ear This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia. peter 2011-12-18T07:49:49Z UMLS:C4280331|UMLS:C4021174 human_phenotype owl:Class HP:0008551 biolink:NamedThing Microtia Underdevelopment of the external ear. hp0009lx5z Hypoplasia of the external ear|Bilateral microtia|Underdeveloped ears|Small pinnae|Hypoplastic ears|Small ears|Hypoplastic pinna The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established. HP:0000393|HP:0008618|HP:0008550|HP:0008621|HP:0000409 SNOMEDCT_US:35045004|MSH:D065817|UMLS:C0152423 human_phenotype owl:Class HP:0001338 biolink:NamedThing Partial agenesis of the corpus callosum A partial failure of the development of the corpus callosum. hp0009lx5z Partial corpus callosum agenesis|Partial agenesis of corpus callosum|Partial or complete agenesis of corpus callosum|Partial to complete agenesis of corpus callosum|Partial or complete agenesis of the corpus callosum|Corpus callosum agenesis, partial|Partial-total agenesis of corpus callosum HP:0006982|HP:0007128|HP:0007090 MSH:C536111|UMLS:C1857278|SNOMEDCT_US:253140003|UMLS:C0431368 human_phenotype owl:Class HP:0001274 biolink:NamedThing Agenesis of corpus callosum Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. hp0009lx5z Absent corpus callosum|Absence of corpus callosum|Dysplastic or absent corpus callosum|Agenesis of the corpus callosum|Corpus callosum agenesis|Callosal agenesis HP:0006800 MSH:D061085|UMLS:C0175754|SNOMEDCT_US:5102002|Fyler:4321 human_phenotype owl:Class HP:0430024 biolink:NamedThing Abnormality of external jugular vein An abnormality of an external jugular vein of the neck. hp0009lx5z UMLS:C4073206 owl:Class HP:3000042 biolink:NamedThing Abnormal jugular vein morphology Any structural abnormality of a jugular vein. hp0009lx5z Abnormality of jugular vein vasilevs 2015-08-07T01:04:39Z UMLS:C4073250 human_phenotype owl:Class HP:0005430 biolink:NamedThing Recurrent Neisserial infections Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). hp0009lx5z Recurrent neisseria infections|Episodes of neisserial infection HP:0005377|HP:0005378 UMLS:C3151083 human_phenotype owl:Class HP:0005420 biolink:NamedThing Recurrent gram-negative bacterial infections Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. hp0009lx5z Gram-negative bacteria have a unique outer membrane, a thinner layer of peptidoglycan compared to gram-positive bacteria, and a periplasmic space between the cell wall and the membrane. HP:0005395 UMLS:C4025198 human_phenotype owl:Class HP:0000825 biolink:NamedThing Hyperinsulinemic hypoglycemia An increased concentration of insulin combined with a decreased concentration of glucose in the blood. hp0009lx5z Hyperinsulinemia hypoglycemia|Hyperinsulinaemic hypoglycaemia Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar. UMLS:C1864903 human_phenotype owl:Class HP:0000842 biolink:NamedThing Hyperinsulinemia An increased concentration of insulin in the blood. hp0009lx5z Elevated insulin level UMLS:C0020459|MSH:D006946|SNOMEDCT_US:83469008 human_phenotype owl:Class HP:0002866 biolink:NamedThing Hypoplastic iliac wing Underdevelopment of the ilium ala. hp0009lx5z Small iliac wings|Hypoplastic iliac alae|Hypoplastic iliac wings HP:0003169|HP:0003181|HP:0008837 UMLS:C1865027 owl:Class HP:0000946 biolink:NamedThing Hypoplastic ilia Underdevelopment of the ilium. hp0009lx5z Small iliac bones|Short and small iliac bones|Small wings of the pelvic girdle HP:0003178|HP:0003176 UMLS:C1861218|UMLS:C4280607 human_phenotype owl:Class HP:0500046 biolink:NamedThing Seborrhoeic blepharitis Inflamation of the eyelid due to overactivity of the sebaceous gland. hp0009lx5z 2018-02-05 17:03:04+00:00 There is some suggestion that yeast bacterial strain called Malassezia furfur may cause seborrhoeic dermatitis. This yeast bacterial strain thrives in the oil of human skin especially in adults. ORCID:0000-0001-7941-2961 owl:Class HP:0025610 biolink:NamedThing Posterior blepharitis A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. hp0009lx5z Meibomian gland dysfunction|Meibomian gland disease 2018-01-13 22:53:43+00:00 HPO:probinson owl:Class HP:0000913 biolink:NamedThing Posterior rib fusion Complete or partial merging of the posterior part of adjacent ribs. hp0009lx5z UMLS:C1842084 human_phenotype owl:Class HP:0000902 biolink:NamedThing Rib fusion Complete or partial merging of adjacent ribs. hp0009lx5z Fused ribs|Rib fusion HP:0000880 UMLS:C1844749 human_phenotype owl:Class HP:0012123 biolink:NamedThing Posterior uveitis Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid. hp0009lx5z Choroiditis hecht 2012-09-16T06:25:06Z SNOMEDCT_US:43363007|UMLS:C0008526|SNOMEDCT_US:16553002|UMLS:C0042167|MSH:D015866|MSH:D002833 human_phenotype owl:Class HP:0000554 biolink:NamedThing Uveitis Inflammation of one or all portions of the uveal tract. hp0009lx5z The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. SNOMEDCT_US:128473001|MSH:D014605|UMLS:C0042164 human_phenotype owl:Class HP:0007610 biolink:NamedThing Blotching pigmentation of the skin hp0009lx5z UMLS:C4024831 human_phenotype owl:Class HP:0003927 biolink:NamedThing Cortical irregularity of humeral diaphysis An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus. hp0009lx5z UMLS:C4025501 human_phenotype owl:Class HP:0003926 biolink:NamedThing Abnormality of the humeral diaphysis An anomaly of the humeral diaphysis. hp0009lx5z Abnormality of shaft of long bone in upper arm UMLS:C4025502 human_phenotype owl:Class HP:0009612 biolink:NamedThing Duplication of the distal phalanx of the thumb Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. hp0009lx5z Double thumb distal phalanges|Duplication of terminal thumb phalanx|Partial/complete duplication of the distal phalanx of the thumb|Duplication of distal thumb phalanx|Duplicated terminal phalanx of thumb|Duplication of the outermost bone of the thumb doelkens 2009-01-29T03:51:43Z UMLS:C4021425 human_phenotype owl:Class HP:0009942 biolink:NamedThing Duplication of thumb phalanx Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Complete/partial duplication of phalanges of the thumb|Duplication of phalanx of thumb|Duplicated thumbs|Duplicated thumb doelkens 2009-05-15T12:51:02Z HP:0009661 UMLS:C4021370 human_phenotype owl:Class HP:0041074 biolink:NamedThing Chronic (near) absent circulating IgG3 A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured. hp0009lx5z Chronic (near) absent IgG3 in blood owl:Class HP:0041072 biolink:NamedThing Chronic decreased circulating IgG3 A lasting decrease of immunoglobulin G3 (IgG3) in the blood. hp0009lx5z Chronic decreased IgG3 in blood owl:Class HP:0040302 biolink:NamedThing Hyperglycerolemia Increased concentration of glycerol in the blood. hp0009lx5z Pseudohypertriglyceridemia In glycerol kinase deficiency, the increased glycerol concentration has been noted to cause false-positive results of hypertriglyceridemia, a phenomenon called pseudohypertriglyceridemia. owl:Class HP:0031795 biolink:NamedThing Abnormal circulating glycerol level Any deviation from the normal concentration of glycerol in the blood. hp0009lx5z 2018-02-25 14:28:46+00:00 peter owl:Class HP:0009968 biolink:NamedThing Partial duplication of the distal phalanx of the 3rd finger Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Bifid terminal phalanx of the 3rd finger|Notched outermost bone of the middle finger|Partial duplication of the outermost bone of the middle finger doelkens 2009-05-26T12:49:59Z UMLS:C4021360 human_phenotype owl:Class HP:0003973 biolink:NamedThing Wide radioulnar joints hp0009lx5z Broad radioulnar joints UMLS:C4021699 human_phenotype owl:Class HP:0003037 biolink:NamedThing Enlarged joints Increase in size of one or more joints. hp0009lx5z Enlarged joints|Prominent joints UMLS:C1859111 human_phenotype owl:Class HP:0100684 biolink:NamedThing Salivary gland neoplasm A tumor (abnormal growth of tissue) of a salivary gland. hp0009lx5z Tumor of salivary gland|Tumour of salivary gland|Salivary gland neoplasia|Cancer of salivary gland doelkens 2010-12-30T02:20:38Z SNOMEDCT_US:235132004|UMLS:C0036095|NCIT:C3262|MSH:D012468|SNOMEDCT_US:255072001|UMLS:C0220636 human_phenotype owl:Class HP:0010286 biolink:NamedThing Abnormal salivary gland morphology Any abnormality of the salivary glands, the exocrine glands that produce saliva. hp0009lx5z Abnormality of the salivary glands|Salivary gland disease peter 2009-07-12T10:38:51Z SNOMEDCT_US:10890000|UMLS:C0036093|UMLS:C0149772|MSH:D012466 human_phenotype owl:Class HP:0025115 biolink:NamedThing Civatte bodies Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant hp0009lx5z Colloid bodies of Civatte|Cytoid bodies|Colloid bodies|Hyaline bodies 2016-11-01 01:58:56+00:00 The presence of numerous civatte bodies (CBs) in biopsies is a characteristic finding in skin lesions of patients with various dermatoses, particularly lichen planus (LP) and discoid lupus erythematosus (DLE). Achille Civatte (1877-1956) was a French dermatologist. HPO:probinson owl:Class HP:0009879 biolink:NamedThing Simplified gyral pattern An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. hp0009lx5z Cortical gyral simplification 2009-03-28T06:23:59Z UMLS:C2749675 human_phenotype owl:Class HP:0002536 biolink:NamedThing Abnormal cortical gyration An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. hp0009lx5z Cerebral gyral anomalies|Abnormal gyration HP:0006900 UMLS:C1856019 human_phenotype owl:Class HP:0030420 biolink:NamedThing Vulvar adenocarcinoma An adenocarcinoma arising in the vulva. hp0009lx5z UMLS:C1336975 owl:Class HP:0030416 biolink:NamedThing Vulvar neoplasm A tumor (abnormal growth of tissue) of the female external genital tract (vulva). hp0009lx5z Tumor of the vulva|Tumour of the vulva|Neoplasm of the vulva NCIT:C3262|SNOMEDCT_US:126922007|MSH:D014846|UMLS:C0042995 owl:Class HP:0010018 biolink:NamedThing Enlarged epiphysis of the 1st metacarpal Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms. hp0009lx5z Enlarged end part of the 1st long bone of hand doelkens 2009-05-27T04:02:50Z UMLS:C4024105 human_phenotype owl:Class HP:0010271 biolink:NamedThing Enlarged epiphyses of the proximal phalanges of the hand hp0009lx5z Enlarged end part of the innermost hand bones doelkens 2009-07-06T04:25:12Z UMLS:C4023930 human_phenotype owl:Class HP:0006386 biolink:NamedThing Hypoplastic distal radial epiphyses Underdevelopment of the distal epiphysis of the radius. hp0009lx5z UMLS:C1969286 human_phenotype owl:Class HP:0010597 biolink:NamedThing Abnormality of the distal radial epiphysis Any abnormality of the distal epiphysis of the radius. hp0009lx5z sandra1 2009-10-22T03:06:29Z UMLS:C4023776 human_phenotype owl:Class HP:0004255 biolink:NamedThing Small trapezium Underdevelopment of the trapezium. hp0009lx5z UMLS:C4025389 human_phenotype owl:Class HP:0004252 biolink:NamedThing Abnormality of the trapezium An anomaly of trapezium. hp0009lx5z UMLS:C4025390 human_phenotype owl:Class HP:0025481 biolink:NamedThing Cervical hemivertebrae Absence of one half of the vertebral body in the cervical spine. hp0009lx5z 2017-05-14 13:58:48+00:00 HPO:probinson owl:Class HP:0002937 biolink:NamedThing Hemivertebrae Absence of one half of the vertebral body. hp0009lx5z Hemivertebra|Hemi-vertebrae|Missing part of vertebrae Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect. UMLS:C0265677|SNOMEDCT_US:68359008 human_phenotype owl:Class HP:0012866 biolink:NamedThing Abnormal sperm neck morphology A structural abnormality of the sperm neck. hp0009lx5z Sperm neck anomaly The neck of spermatozoa is the site of articulation between the head and tail, and comprises the sperm centriole and connecting piece. hecht 2014-06-09T10:50:20Z UMLS:C4022701 owl:Class HP:0005458 biolink:NamedThing Premature closure of fontanelles Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. hp0009lx5z Obliterated fontanelles|Premature closure of the cranial sutures|Early closure of the cranial sutures|Early closure of the bregma sutures|Premature closure of the bregma sutures|Early closure of the fontanelles UMLS:C0277827|UMLS:C4072853|MSH:D003398|UMLS:C0010278|SNOMEDCT_US:1667003|SNOMEDCT_US:57219006 human_phenotype owl:Class HP:0011328 biolink:NamedThing Abnormality of fontanelles An abnormality of the fontanelle. hp0009lx5z Anomaly of the fontanelles The fontanelles are the regions in an infant's calvaria that are covered by a thick membrane that normally ossify in the first two years of life. peter 2012-02-25T02:34:36Z UMLS:C4020755 human_phenotype owl:Class HP:0010869 biolink:NamedThing Asynergia A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. hp0009lx5z peter 2010-08-18T01:39:38Z UMLS:C0234355|SNOMEDCT_US:77743009 human_phenotype owl:Class HP:0010867 biolink:NamedThing Dyssynergia A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. hp0009lx5z peter 2010-08-18T01:17:10Z UMLS:C0004134|SNOMEDCT_US:39384006|MSH:D001259|SNOMEDCT_US:20262006 human_phenotype owl:Class HP:0041220 biolink:NamedThing Fractured facial bone A partial or complete breakage of the facial bone. hp0009lx5z bone facial bone owl:Class HP:0032692 biolink:NamedThing Focal cognitive seizure with forced thinking A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation. hp0009lx5z Forced thinking is the presence of intrusive thoughts, ideas or crowding of thoughts. This is a rare seizure type, seen in mesial parietal, posterior parahippocampal and frontal lobe seizures. peter owl:Class HP:0032680 biolink:NamedThing Focal cognitive seizure A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure. hp0009lx5z Partial cognitive seizure|Cognitive seizure|Cognitive aura In order to characterize focal cognitive seizures, specific testing may be required early during the seizure. peter HP:0011162 owl:Class HP:0031258 biolink:NamedThing Delirium A state of sudden and severe confusion. hp0009lx5z 2017-08-12 16:00:36+00:00 peter owl:Class HP:0001289 biolink:NamedThing Confusion Lack of clarity and coherence of thought, perception, understanding, or action. hp0009lx5z Confusion|Mental disorientation|Disorientation|Easily confused HP:0000731 SNOMEDCT_US:286933003|MSH:D003221|UMLS:C0009676 human_phenotype owl:Class HP:0032352 biolink:NamedThing Methioninuria Increased level of methionine in urine. hp0009lx5z 2019-02-23 16:48:53+00:00 peter owl:Class HP:0033095 biolink:NamedThing Increased sulfur amino acid level in urine An elevated level of a sulfur-containing amino acid in the urine. hp0009lx5z Increased sulphur amino acid level in urine|Increased sulfur-containing amino acid level in urine peter owl:Class HP:0100855 biolink:NamedThing Triceps hypoplasia Hypoplasia of the triceps muscle. hp0009lx5z Small triceps|Underdeveloped triceps doelkens 2011-11-30T09:56:14Z UMLS:C4021954 human_phenotype owl:Class HP:0030239 biolink:NamedThing Hypoplasia of the upper arm musculature Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis. hp0009lx5z Underdeveloped upper arm muscles UMLS:C4022562 owl:Class HP:0100657 biolink:NamedThing Thoracoabdominal eventration Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls. hp0009lx5z Kelosomia|Celosomia doelkens 2010-12-30T10:07:54Z SNOMEDCT_US:44518003|UMLS:C0266682 human_phenotype owl:Class HP:0100656 biolink:NamedThing Thoracoabdominal wall defect Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development. hp0009lx5z Thoracoabdominal schisis May be accompanied by thoracic ectopia cordis and gastroschisis. doelkens 2010-12-30T10:04:18Z UMLS:C4022002 human_phenotype owl:Class HP:0100472 biolink:NamedThing Symphalangism affecting the middle phalanx of the 5th toe hp0009lx5z Fused middle bones of 5th toe UMLS:C4022055 human_phenotype owl:Class HP:0010389 biolink:NamedThing Symphalangism affecting the phalanges of the 5th toe hp0009lx5z Fused bones in the pinky toe|Fused bones in the little toe|Fused bones in the pinkie toe doelkens 2009-07-16T11:52:18Z UMLS:C4023864 human_phenotype owl:Class HP:0010128 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the hallux The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. hp0009lx5z Bracket shaped end part of the innermost bone of big toe doelkens 2009-05-29T01:22:23Z UMLS:C4024031 human_phenotype owl:Class HP:0010114 biolink:NamedThing Bracket epiphyses of the hallux hp0009lx5z Bracket shaped end part of big toe bone doelkens 2009-05-29T01:16:38Z UMLS:C4024045 human_phenotype owl:Class HP:0009666 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the thumb A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Cone-shaped end part of thumb innermost long bone doelkens 2009-01-30T09:17:13Z UMLS:C4024251 human_phenotype owl:Class HP:0009663 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the thumb This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Abnormality of end part of thumb innermost long bone doelkens 2009-01-29T05:49:31Z UMLS:C4024254 human_phenotype owl:Class HP:0009715 biolink:NamedThing Papillary cystadenoma of the epididymis A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. hp0009lx5z Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis. peter 2009-01-30T11:46:33Z HP:0030422 NCIT:C2974|UMLS:C4024221 owl:Class HP:0030421 biolink:NamedThing Epididymal neoplasm A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens. hp0009lx5z NCIT:C3262|UMLS:C0346239|SNOMEDCT_US:126902008 owl:Class HP:0012452 biolink:NamedThing Restless legs A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia). hp0009lx5z Willis-Ekbom disease|Restless legs syndrome|Wittmaack-Ekbom syndrome Restless legs syndrome is a disorder characterized by aching or burning sensations in the legs that occur prior to sleep or may awaken the affected persons. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. peter 2013-11-23T07:42:59Z UMLS:C0035258|SNOMEDCT_US:32914008|MSH:D012148 human_phenotype owl:Class HP:0010880 biolink:NamedThing Increased nuchal translucency The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination). hp0009lx5z Increased nuchal translucency may be related to a cystic hygroma or to mesenchymal edema. Increased nuchal translucency can be classified into three categories: 1) cardiac abnormalities, combined with abnormal ductus venosus flow velocities, is found, leading to the theory that cardiac failure causes nuchal translucency enlargement; 2) various types of abnormalities are found in the extracellular matrix of the nuchal skin of fetuses with increased nuchal translucency; 3) abnormal lymphatic development is demonstrated in fetuses with increased nuchal translucency. peter 2010-09-13T08:15:19Z UMLS:C4023676 human_phenotype owl:Class HP:0002100 biolink:NamedThing Recurrent aspiration pneumonia Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. hp0009lx5z HP:0002106 SNOMEDCT_US:430969000|UMLS:C0747651 human_phenotype owl:Class HP:0011951 biolink:NamedThing Aspiration pneumonia Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. hp0009lx5z peter 2012-06-21T08:40:03Z UMLS:C0032290|MSH:D011015|SNOMEDCT_US:422588002 human_phenotype owl:Class HP:0033704 biolink:NamedThing Elevated urinary homogentisic acid An increased amount of homogentisic acid in the urine. hp0009lx5z 2021-03-12 12:47:05+00:00 This finding is characteristic for alkaptonuria. peter owl:Class HP:0033303 biolink:NamedThing Elevated urinary monocarboxylic acid level Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group. hp0009lx5z 2020-11-28 22:06:48+00:00 peter owl:Class HP:0001986 biolink:NamedThing Hypertonic dehydration hp0009lx5z Hyperosmolar dehydration UMLS:C1112601 human_phenotype owl:Class HP:0001944 biolink:NamedThing Dehydration hp0009lx5z Exsiccosis|Dehydration UMLS:C0011175|MSH:D003681|SNOMEDCT_US:34095006 owl:Class HP:0007166 biolink:NamedThing Paroxysmal dyskinesia Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. hp0009lx5z Involuntary dystonic or choreiform movements UMLS:C1836174|MSH:D002819|UMLS:C0752210 owl:Class HP:0004305 biolink:NamedThing Involuntary movements Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. hp0009lx5z Involuntary movements|Involuntary muscle contractions peter 2008-02-20T12:18:00Z HP:0007120 SNOMEDCT_US:102542000|UMLS:C0235086 human_phenotype owl:Class HP:0041200 biolink:NamedThing Fractured sternal end of clavicle A partial or complete breakage of the sternal end of clavicle. hp0009lx5z bone sternal end of clavicle owl:Class HP:0000889 biolink:NamedThing Abnormal clavicle morphology Any abnormality of the clavicles (collar bones). hp0009lx5z Abnormality of the clavicle|Abnormal clavicles|Abnormal collarbone UMLS:C4021792 owl:Class HP:0410074 biolink:NamedThing Increased level of xylitol in urine An increase in the level of xylitol in the urine. hp0009lx5z 2018-01-30 00:49:41+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0031979 biolink:NamedThing Abnormal urine carbohydrate level Any deviation from the normal concentration of a carbohydrate in the urine. hp0009lx5z 2018-07-08 12:53:24+00:00 Carbohydrates, also known as saccharides, comprise mono-, d-, and oligosaccharides (substances from endogenous metabolism or from exogenous sources such as diet). Most saccharides except glucose are readily excreted in the urine, reflecting dieteray consuption. Increased sacchardie levels may indicate an enzyme defect or other disease if a certain type of saccharide or a certain profile is found. peter owl:Class HP:0031286 biolink:NamedThing Perifollicular erythema Redness surrounding the hair follicles. hp0009lx5z 2017-08-13 20:27:06+00:00 peter owl:Class HP:0031285 biolink:NamedThing Abnormal perifollicular morphology Any structural anomaly in the areas surrounding the hair follicles. hp0009lx5z 2017-08-13 20:25:47+00:00 peter owl:Class HP:0004180 biolink:NamedThing Short distal phalanx of the 3rd finger Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. hp0009lx5z Short terminal phalanx of middle finger|Short outermost bone of the middle finger|Hypoplastic/small distal phalanx of the 3rd finger|Short distal phalanx of the third finger HP:0004182 UMLS:C4021681 human_phenotype owl:Class HP:0009421 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 3rd finger hp0009lx5z Absent/small outermost middle finger bone|Absent/underdeveloped outermost middle finger bone doelkens 2009-01-14T03:16:46Z UMLS:C4024374 human_phenotype owl:Class HP:0009373 biolink:NamedThing Type C brachydactyly hp0009lx5z doelkens 2009-01-13T10:50:19Z MSH:C537093|UMLS:C1862103 human_phenotype owl:Class HP:0001156 biolink:NamedThing Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. hp0009lx5z Brachydactyly syndrome|Short fingers or toes HP:0005657|HP:0001189|HP:0006017|HP:0100667|HP:0005630|HP:0005727|HP:0006128|HP:0001201 UMLS:C0221357|SNOMEDCT_US:43476002|MSH:D059327 human_phenotype owl:Class HP:0100531 biolink:NamedThing Wind-swept deformity of the knees The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. hp0009lx5z Wind-swept deformity of the knees doelkens 2010-12-20T12:43:09Z UMLS:C4022030 human_phenotype owl:Class HP:0002970 biolink:NamedThing Genu varum A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. hp0009lx5z Genua vara|Outward bow-leggedness|Outward bowing at knees|Genu vara HP:0003052 UMLS:C0544755|MSH:D056305|SNOMEDCT_US:299331007 human_phenotype owl:Class HP:0010990 biolink:NamedThing Abnormality of the common coagulation pathway An abnormality of blood coagulation, common pathway. hp0009lx5z The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex. peter 2011-02-08T04:31:53Z UMLS:C4023609 human_phenotype owl:Class HP:0003256 biolink:NamedThing Abnormality of the coagulation cascade An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. hp0009lx5z Coagulopathy HP:0001925 SNOMEDCT_US:64779008|UMLS:C0005779|MSH:D001778|SNOMEDCT_US:362970003 human_phenotype owl:Class HP:0003298 biolink:NamedThing Spina bifida occulta The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. hp0009lx5z May be asymptomatic. UMLS:C0080174|SNOMEDCT_US:76916001|MSH:D016136 human_phenotype owl:Class HP:0002414 biolink:NamedThing Spina bifida Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. hp0009lx5z Split spine Fyler:4157|SNOMEDCT_US:67531005|UMLS:C0080178|MSH:D016135 human_phenotype owl:Class HP:0001074 biolink:NamedThing Atypical nevi in non-sun exposed areas hp0009lx5z UMLS:C4021837 human_phenotype owl:Class HP:0007603 biolink:NamedThing Freckles in sun-exposed areas hp0009lx5z Freckles in sun-exposed areas UMLS:C1859923 human_phenotype owl:Class HP:0005586 biolink:NamedThing Hyperpigmentation in sun-exposed areas hp0009lx5z Hyperpigmentation of exposed areas|Increased pigmentation in sun-exposed areas UMLS:C3805877 human_phenotype owl:Class HP:0008598 biolink:NamedThing Mild conductive hearing impairment A mild form of conductive hearing impairment. hp0009lx5z Conductive hearing loss, mild Conductive hearing impairment with 21-40 dB deficit. UMLS:C4021536 human_phenotype owl:Class HP:0000405 biolink:NamedThing Conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. hp0009lx5z Hearing loss, conductive|Conductive hearing loss|Conduction deafness|Conductive deafness A conductive hearing impariment with greater than 90 dB loss. HP:0000367|HP:0008581 MSH:D006314|SNOMEDCT_US:44057004|UMLS:C0018777 human_phenotype owl:Class HP:0032897 biolink:NamedThing Focal impaired awareness sensory seizure with gustatory features A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0011160 biolink:NamedThing Focal sensory seizure with gustatory features A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation. hp0009lx5z Focal sensory gustatory seizure|Gustatory auras|Focal gustatory seizure|Partial gustatory seizure|Taste hallucinations|Gustatory aura These seizures involve the parietal operculum and the insula. peter 2011-10-18T02:28:36Z UMLS:C0233766|MSH:D006212|SNOMEDCT_US:29139005 human_phenotype owl:Class HP:0002667 biolink:NamedThing Nephroblastoma The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. hp0009lx5z Wilms tumor|Wilm's tumour|Wilms tumour|Wilm's tumor Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever. HP:0000115 UMLS:C0027708|NCIT:C40407|SNOMEDCT_US:302849000|SNOMEDCT_US:25081006|MSH:D009396 human_phenotype owl:Class HP:0011794 biolink:NamedThing Embryonal renal neoplasm The presence of an embryonal neoplasm of the kidney that primarily affects children. hp0009lx5z peter 2012-04-22T07:44:34Z UMLS:C4023184 human_phenotype owl:Class HP:0031049 biolink:NamedThing Heavy-chain paraproteinemia An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp0009lx5z 2017-05-27 14:29:55+00:00 The heavy chain diseases (HCDs) are rare B-cell malignancies that are distinguished by the production of a monoclonal immunoglobulin heavy chain (HC) without an associated light chain by the malignant B-cells. There are three types of HCD defined by the class of immunoglobulin (Ig) HC produced: IgA (alpha-HCD), IgG (gamma-HCD), and IgM (mu-HCD). peter owl:Class HP:0031047 biolink:NamedThing Paraproteinemia An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. hp0009lx5z Monoclonal hypergammaglobulinemia 2017-05-27 14:25:46+00:00 A paraprotein is a monoclonal immunoglobulin or light chain present in the blood or urine; it is produced by a clonal population of mature B cells, most commonly plasma cells. Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. The frequency of paraprotein-associated heavy chains is IgG, IgA, IgM, IgD (in that order). Light chains may be kappa or lambda. Paraproteins are associated with both malignant and nonmalignant conditions and may lead to complications including neuropathy and nephropathy. peter owl:Class HP:0004269 biolink:NamedThing Subluxation of the small joints of the hand A partial dislocation of some or all of the small joints of the hand. hp0009lx5z Partial dislocation of small joints of hand UMLS:C4025380 human_phenotype owl:Class HP:0032153 biolink:NamedThing Joint subluxation A partial dislocation of a joint. hp0009lx5z 2018-12-02 13:55:17+00:00 peter owl:Class HP:0001790 biolink:NamedThing Nonimmune hydrops fetalis A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . hp0009lx5z Non-immune fetal hydrops|Hydrops fetalis, nonimmune|Nonimmune hydrops|Hydrops fetalis, non-immune|Non-immune foetal hydrops SNOMEDCT_US:276509008|SNOMEDCT_US:206538000|UMLS:C0455988|MSH:D015160 human_phenotype owl:Class HP:0001789 biolink:NamedThing Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. hp0009lx5z The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. UMLS:C0020305|SNOMEDCT_US:276508000|MSH:D015160 human_phenotype owl:Class HP:0003886 biolink:NamedThing Wide humerus hp0009lx5z Broad humerus|Wide long bone of upper arm UMLS:C4021715 owl:Class HP:0031095 biolink:NamedThing Abnormal humerus morphology Any anomaly of the structure of the humerus. hp0009lx5z 2017-05-30 01:22:39+00:00 peter owl:Class HP:0005107 biolink:NamedThing Abnormal sacrum morphology An abnormality of the sacral bone. hp0009lx5z Abnormality of the sacrum The sacrum is the large, roughly triangular bone at the base of the verterbal column that is formed by fusion of the five sacral vertebrae S1 to S5. peter 2008-03-25T06:03:00Z UMLS:C4025250 human_phenotype owl:Class HP:0000925 biolink:NamedThing Abnormality of the vertebral column Any abnormality of the vertebral column. hp0009lx5z Abnormality of the spine|Abnormal spine|Abnormality of the backbone|Abnormality of the vertebral column|Abnormal vertebral column UMLS:C4020882|UMLS:C4021789 owl:Class HP:0030408 biolink:NamedThing Pineoblastoma Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells. hp0009lx5z Pinealoblastoma Pineoblastomas are rare, malignant, pineal region lesions that account for <0.1% of all intracranial tumors. Pineoblastomas harbor a poor prognosis and can metastasize along the neuroaxis. Although they typically appear radiographically as a focal enhancing mass, pineoblastomas can be locally invasive and spread outside the pineal region through the subarachnoid space. Pineoblastomas are more common in children than in adults, and adults account for <10% of patients. HP:0040193 SNOMEDCT_US:31671006|MSH:D010871|UMLS:C0205898 owl:Class HP:0003142 biolink:NamedThing Excessive purine production hp0009lx5z UMLS:C4025645 human_phenotype owl:Class HP:0012337 biolink:NamedThing Abnormal homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. hp0009lx5z peter 2013-09-13T09:23:23Z UMLS:C4022950|MP:0001764 human_phenotype owl:Class HP:0012028 biolink:NamedThing Hepatocellular adenoma A benign tumor of the liver of presumably epithelial origin. hp0009lx5z Liver cell adenoma|Hepatic adenoma peter 2012-07-27T01:24:44Z UMLS:C0206669|MSH:D018248|SNOMEDCT_US:78058005|SNOMEDCT_US:424263008|MPATH:353 human_phenotype owl:Class HP:0009296 biolink:NamedThing Bullet-shaped middle phalanx of the 4th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected. hp0009lx5z Bullet-shaped middle bone of the 4th finger doelkens 2009-01-08T04:59:22Z UMLS:C4024462 human_phenotype owl:Class HP:0009845 biolink:NamedThing Bullet-shaped middle phalanges of the hand Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z doelkens 2009-03-11T12:15:55Z HP:0006038 UMLS:C4024187 human_phenotype owl:Class HP:0032848 biolink:NamedThing Focal aware cognitive seizure with neglect A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0000265 biolink:NamedThing Mastoiditis hp0009lx5z MSH:D008417|SNOMEDCT_US:52404001|UMLS:C0024904 human_phenotype owl:Class HP:0000264 biolink:NamedThing Abnormality of the mastoid An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. hp0009lx5z Abnormality of mastoid process of temporal bone UMLS:C4025872 owl:Class HP:0001172 biolink:NamedThing Abnormal thumb morphology An abnormal structure of the first digit of the hand. hp0009lx5z Abnormality of the thumb|Abnormality of the thumbs|Thumb deformity SNOMEDCT_US:299130003|MSH:C536903|UMLS:C0575897 human_phenotype owl:Class HP:0033747 biolink:NamedThing Abnormal exteroceptive sensation A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. hp0009lx5z 2021-04-21 10:58:44+00:00 peter owl:Class HP:0031638 biolink:NamedThing Anomalous origin of the left anterior descending artery from the pulmonary artery The left anterior descending artery (LAD) branches off from the pulmonary artery. hp0009lx5z 2017-12-17 12:50:50+00:00 Normally the left main coronary artery bifurcates into the left circumflex artery and the LAD. peter owl:Class HP:0003207 biolink:NamedThing Arterial calcification Pathological deposition of calcium salts in one or more arteries. hp0009lx5z Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861). peter 2008-03-26T04:05:00Z HP:0012455 UMLS:C1168153 owl:Class HP:0002345 biolink:NamedThing Action tremor A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. hp0009lx5z Ataxic tremor Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors UMLS:C4020853|SNOMEDCT_US:30721006|UMLS:C0234376|MSH:D014202 human_phenotype owl:Class HP:0001337 biolink:NamedThing Tremor An unintentional, oscillating to-and-fro muscle movement about a joint axis. hp0009lx5z Tremors|Tremor Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. HP:0001309|HP:0001295 MSH:D014202|UMLS:C0040822|SNOMEDCT_US:26079004 human_phenotype owl:Class HP:0012613 biolink:NamedThing Increased urinary sulfate Elevated concentration of SO4(2-), i.e., sulfate, in the urine. hp0009lx5z Increased urinary sulphate peter 2014-01-17T11:58:51Z UMLS:C4022820 human_phenotype owl:Class HP:0012612 biolink:NamedThing Abnormal urinary sulfate concentration Abnormal concentration of sulfate in the urine. hp0009lx5z Abnormal urinary sulphate concentration peter 2014-01-17T11:58:23Z UMLS:C4022821 human_phenotype owl:Class HP:0011811 biolink:NamedThing Impaired touch localization A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip. hp0009lx5z Impaired touch localisation|Impaired topognosis peter 2012-04-28T02:54:44Z UMLS:C4021120 human_phenotype owl:Class HP:0011730 biolink:NamedThing Abnormal central sensory function An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. hp0009lx5z Abnormality of central sensory function peter 2012-04-19T07:44:18Z UMLS:C4023215 owl:Class HP:0033133 biolink:NamedThing Renal cortical hypoechogeneity hp0009lx5z Hypoechogenic renal cortex 2020-09-09 13:03:25+00:00 peter owl:Class HP:0033130 biolink:NamedThing Abnormal renal echogenicity Anomalous echogenicity of the kidney on ultrasound examination. hp0009lx5z 2020-09-09 12:48:13+00:00 For diagnostic ultrasonography, high-frequency sound waves are generated and received by the ultrasonography transducer, which is placed on the skin. Returning sound waves (echoes) are processed by a computer and displayed on a computer screen. A gray-scale image is produced when the ultrasonography machine operates in B-mode, or brightness mode, in which returning echoes are represented as bright dots; the brightness of the dots represents the strength of the reflected echoes. Echogenicity, therefore, refers to how bright or dark something appears in the gray-scale image; the brighter something appears, the more echogenic it is. With regard to the kidney, echogenicity generally refers to how bright or dark the kidney parenchyma appears in comparison to the liver. peter owl:Class HP:0010056 biolink:NamedThing Abnormality of the epiphyses of the hallux hp0009lx5z Abnormality of the end part of the big toe bone doelkens 2009-05-29T12:00:08Z UMLS:C4024081 human_phenotype owl:Class HP:0006450 biolink:NamedThing Multicentric ossification of proximal femoral epiphyses hp0009lx5z UMLS:C1857193 human_phenotype owl:Class HP:0010574 biolink:NamedThing Abnormality of the epiphysis of the femoral head Any abnormality of the proximal epiphysis of the femur. hp0009lx5z Abnormality of the end part of the innermost thighbone|Abnormality of the proximal femoral epiphysis Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head. sandra1 2009-10-21T01:28:23Z HP:0010589 UMLS:C4021252 human_phenotype owl:Class HP:0031838 biolink:NamedThing Presence of xenobiotic Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids. hp0009lx5z 2018-05-05 13:07:24+00:00 The presence of a xenobiotic in body tissues or fluids can be the result of ingestion of or exposure to substances such as drugs, environmental pollutants, food additives, hydrocarbons, and pesticides. peter owl:Class HP:0002982 biolink:NamedThing Tibial bowing A bending or abnormal curvature of the tibia. hp0009lx5z Bowed shinbone|Bowed tibia|Bowed shankbone|Bowing of the tibia A developmental defect with posteromedial tibial angulation. HP:0006363 UMLS:C1837081 human_phenotype owl:Class HP:0005579 biolink:NamedThing Impaired reabsorption of chloride Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine. hp0009lx5z Impaired reabsorption of Cl-|Impaired reabsorption of Cl UMLS:C1846349 human_phenotype owl:Class HP:0011038 biolink:NamedThing Abnormal renal resorption An abnormality of renal absorption. hp0009lx5z Abnormality of renal resorption peter 2011-03-06T12:38:04Z UMLS:C4023578 owl:Class HP:0000060 biolink:NamedThing Clitoral hypoplasia Developmental hypoplasia of the clitoris. hp0009lx5z Small clitoris|Hypoplastic clitoris|Underdeveloped clit UMLS:C1844527 human_phenotype owl:Class HP:0012815 biolink:NamedThing Hypoplastic female external genitalia Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). hp0009lx5z Underdeveloped female external genitalia peter 2014-05-27T08:14:55Z UMLS:C4022715 human_phenotype owl:Class HP:0007396 biolink:NamedThing Early cutaneous photosensitivity Photosensitivity of the skin occurring early in life. hp0009lx5z Sun sensitivity occurring early in life UMLS:C4024889 human_phenotype owl:Class HP:0000992 biolink:NamedThing Cutaneous photosensitivity An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. hp0009lx5z Sensitivity to sunlight|Sun sensitivity|Photosensitive skin|Photosensitivity|Photosensitive skin rashes|Skin photosensitivity HP:0005594|HP:0007538|HP:0006831 SNOMEDCT_US:90128006|UMLS:C0349506|MSH:D010787 human_phenotype owl:Class HP:0004408 biolink:NamedThing Abnormality of the sense of smell An anomaly in the ability to perceive and distinguish scents (odors). hp0009lx5z Smell defect|Abnormality of the sense of smell|Abnormality of olfaction|Abnormal sense of smell peter 2008-03-18T09:21:00Z HP:0004410 UMLS:C4021655 owl:Class HP:0030196 biolink:NamedThing Fatigable weakness of respiratory muscles A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. hp0009lx5z UMLS:C4022587 owl:Class HP:0003473 biolink:NamedThing Fatigable weakness A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. hp0009lx5z Fatigable weakness of limb muscles|Proximal muscle weakness due to defect at the neuromuscular junction|Myasthenia|Myasthenic weakness|Generalised muscle weakness due to defect at the neuromuscular junction|Generalized muscle weakness due to defect at the neuromuscular junction This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering. HP:0003428|HP:0003399|HP:0100794 UMLS:C0947912 human_phenotype owl:Class HP:0011958 biolink:NamedThing Retinal perforation A small hole through the whole thickness of the retina. hp0009lx5z Retinal tear|Torn retina Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes. hecht 2012-07-07T11:24:39Z SNOMEDCT_US:302888003|UMLS:C0035321|SNOMEDCT_US:95690009|SNOMEDCT_US:232003005|MSH:D012167|SNOMEDCT_US:40024006 human_phenotype owl:Class HP:0008041 biolink:NamedThing Late onset congenital glaucoma hp0009lx5z UMLS:C1856441 human_phenotype owl:Class HP:0031396 biolink:NamedThing Abnormal proportion of naive T cells Any abnormality in the proportion of naive T cells relative to the total number of T cells. hp0009lx5z Abnormal naive T cell proportion|Abnormal proportion of naive thymus-derived, alpha-beta T cells 2017-09-03 12:46:29+00:00 Following the development of T cells in the thymus, they enter the blood stream and recirculate between the blood and peripheral lymphatic tissues. Mature recirculating T cells that have not yet encountered their specific antigen are known as naive T cells. Mature T cell not yet exposed to antigen with the phenotype CCR7-positive, CD45RA-positive, and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. Human mature CD4+ T cells are functionally heterogeneous and can be divided into naive and memory/effector populations based on the expression of cell surface markers. Although the most significant differences between these two populations are functional, the leukocyte common Ag (CD45) was promoted as a potential marker of memory T cells. CD45 Ag may be found in various isoforms depending on alternative splicing of three extracellularly expressed exons. The expression of the highest molecular weight isoform, referred to as CD45RA, defines the population of CD4+ unprimed lymphocytes. Activation of naive lymphocytes through TCR engagement is followed by loss of CD45RA Ag and transition to the expression of the smallest molecular weight isoform CD45RO. These primed cells express high levels of activation Ags, acquire effector functions, and need less costimuli requirements for further activation. peter owl:Class HP:0100169 biolink:NamedThing Absent epiphysis of the distal phalanx of the 4th toe hp0009lx5z Absent end part of the outermost bone of the 4th toe doelkens 2010-06-24T04:53:36Z UMLS:C4022252 human_phenotype owl:Class HP:0100094 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 4th toe hp0009lx5z Abnormality of the end part of the outermost bone of the 4th toe doelkens 2010-06-24T10:02:24Z UMLS:C4022327 human_phenotype owl:Class HP:0030891 biolink:NamedThing Periventricular white matter hyperdensities Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. hp0009lx5z Periventricular white matter hyperintensities|PVWMH|Periventricular cerebral white matter hyperdensities See also defintion for "Deep cerebral white matter hyperdensities". These two entities are in contra-distinction to each other. ORCID:0000-0002-5316-1399 owl:Class HP:0030890 biolink:NamedThing Hyperintensity of cerebral white matter on MRI A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. hp0009lx5z White matter hyperintensity ORCID:0000-0002-5316-1399 owl:Class HP:0025482 biolink:NamedThing Positive perchlorate discharge test An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. hp0009lx5z 2017-05-14 16:04:53+00:00 Individuals with Pendred syndrome may show a positive perchlorate discharge test. HPO:probinson owl:Class HP:0002926 biolink:NamedThing Abnormality of thyroid physiology An abnormal functionality of the thyroid gland. hp0009lx5z Abnormal thyroid function UMLS:C0857576 human_phenotype owl:Class HP:0033330 biolink:NamedThing Impaired neck-righting reflex Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years. hp0009lx5z 2020-11-29 16:23:48+00:00 peter owl:Class HP:0033329 biolink:NamedThing Abnormal postural reflex Anomaly of the physiological response to maintain the body's posture when movement and position is altered. hp0009lx5z Abnormal postural reaction 2020-11-29 16:11:38+00:00 The primitive reflexes and the postural reactions comprise one of the earliest, simplest, and most frequently used tools among child neurologists to assess the central nervous system integrity of infants and young children. Infants with cerebral palsy have been known to manifest persistence or delay in the disappearance of primitive reflexes and pathologic or absent postural reactions. Primitive reflexes develop prenatally, are present at birth in the full-term neonate. Postural reflexes emerge after birth and take up to three and a half years to be fully developed. peter owl:Class HP:0000193 biolink:NamedThing Bifid uvula Uvula separated into two parts most easily seen at the tip. hp0009lx5z Forked uvula|Cleft of uvula|Bifid palatine uvula|Cleft uvula|Uvula bifida|Split uvula HP:0410032|HP:0000173 SNOMEDCT_US:18910001|UMLS:C0266122 owl:Class HP:0000172 biolink:NamedThing Abnormal uvula morphology Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. hp0009lx5z Abnormality of palatine uvula|Abnormality of the uvula UMLS:C4025885 owl:Class HP:0041246 biolink:NamedThing Fractured sternum A partial or complete breakage of the sternum. hp0009lx5z bone sternum owl:Class HP:0000766 biolink:NamedThing Abnormal sternum morphology An anomaly of the sternum, also known as the breastbone. hp0009lx5z Pectus carinatum or pectus excavatum|Pectus deformities|Pectus excavatum or pectus carinatum|Sternal anomalies|Pectus excavatum/carinatum|Pectus excavatum or carinatum|Abnormality of the sternum|Pectus deformity HP:0006708|HP:0006630|HP:0006605|HP:0006586|HP:0006594|HP:0000780 UMLS:C1860493 human_phenotype owl:Class HP:0009462 biolink:NamedThing Radial deviation of the 3rd finger Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). hp0009lx5z Inward turned middle finger doelkens 2009-01-15T09:35:10Z UMLS:C4024345 human_phenotype owl:Class HP:0011729 biolink:NamedThing Abnormality of joint mobility An abnormality in the range and ease of motion of joints across their normal range. hp0009lx5z peter 2012-04-18T07:09:28Z UMLS:C4023216 human_phenotype owl:Class HP:0011843 biolink:NamedThing Abnormality of musculoskeletal physiology An abnormality of the function of the skeletal system. hp0009lx5z peter 2012-05-07T08:09:43Z UMLS:C4023164 human_phenotype owl:Class HP:0010090 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the hallux hp0009lx5z Uneven increase in bone density in the innermost bone of the big toe doelkens 2009-05-29T12:17:16Z UMLS:C4024057 human_phenotype owl:Class HP:0010063 biolink:NamedThing Patchy sclerosis of hallux phalanx Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Patchy sclerosis of the phalanges of the hallux|Uneven increase in bone density in big toe bone doelkens 2009-05-29T12:10:46Z UMLS:C4021340 human_phenotype owl:Class HP:0410049 biolink:NamedThing Abnormality of radial ray hp0009lx5z Radial ray abnormality|Deformity of radial ray|Radial ray anomaly|Radial ray deformity 2017-10-16 20:21:52+00:00 An abnormality of the radial ray; the thumb bones and 1st meta carpel. ORCID:0000-0001-5208-3432 owl:Class HP:0005009 biolink:NamedThing Dumbbell-shaped humerus The humerus is shortened and displays flaring (widening) of the metaphyses. hp0009lx5z Dumbbell-shaped long bone in upper arm UMLS:C4025259 human_phenotype owl:Class HP:0000947 biolink:NamedThing Dumbbell-shaped long bone An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. hp0009lx5z Dumbbell-shaped long bone|Dumbbell widening of long bone metaphyses HP:0005075|HP:0005071|HP:0005061 UMLS:C2749582 human_phenotype owl:Class HP:0008352 biolink:NamedThing Impaired platelet adhesion An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation. hp0009lx5z Impaired thrombocytes adhesion UMLS:C4024694 human_phenotype owl:Class HP:0011869 biolink:NamedThing Abnormal platelet function Any anomaly in the function of thrombocytes. hp0009lx5z peter 2012-05-30T05:32:11Z UMLS:C0855740 human_phenotype owl:Class HP:0500008 biolink:NamedThing Cornea verticillata Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. hp0009lx5z Vortex keratopathy Cornea verticillata can be a feature of Fabry disease and can occur as an adverse effect of mediciations including amiodarone. owl:Class HP:0000481 biolink:NamedThing Abnormal cornea morphology Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. hp0009lx5z Corneal abnormality|Cornela disease|Abnormality of the cornea|Corneal abnormalities HP:0007771|HP:0007972 UMLS:C1855670|UMLS:C4020889 human_phenotype owl:Class HP:0009386 biolink:NamedThing Fragmentation of the epiphyses of the 5th finger Fragmented appearance of the epiphyses of the 5th finger. hp0009lx5z Fragmentation of the end part of the pinky finger bones|Fragmentation of the end part of the little finger bones|Fragmentation of the end part of the pinkie finger bones doelkens 2009-01-13T01:19:03Z UMLS:C4024403 human_phenotype owl:Class HP:0430002 biolink:NamedThing Abnormality of the lacrimal bone An abnormality of the lacrimal bone. hp0009lx5z Malformation of the lacrimal bone|Deformity of the lacrimal bone|Anomaly of the lacrimal bone UMLS:C4021872 owl:Class HP:0000625 biolink:NamedThing Eyelid coloboma A short discontinuity of the margin of the lower or upper eyelid. hp0009lx5z Cleft eyelid|Notched eyelid|Eyelid coloboma|Full thickness defect of the eyelid The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. SNOMEDCT_US:95202004|UMLS:C0521573 human_phenotype owl:Class HP:0011226 biolink:NamedThing Aplasia/Hypoplasia of the eyelid Absence or underdevelopment of the eyelid. hp0009lx5z Failure of development of eyelid|Hypotrophic eyelid peter 2011-12-13T08:38:23Z UMLS:C4023453 human_phenotype owl:Class HP:0001171 biolink:NamedThing Split hand A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands. hp0009lx5z Claw hands|Claw-hand deformities|Claw hand deformities|Ectrodactyly of the hand|Hand ectrodactyly|Claw hand|Split-hand|Split hand HP:0001247|HP:0003050 SNOMEDCT_US:299034005|UMLS:C0221373 human_phenotype owl:Class HP:0430028 biolink:NamedThing Hyperplasia of the maxilla Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. hp0009lx5z Large upper jaw|Increased projection of upper jaw|Maxillary hyperplasia|Maxillary prominence|Maxillary excess|Increased size of upper jaw|Prominent maxilla|Hypertrophy of maxilla|Hypertrophy of upper jaw|Prominent upper jaw|Increased size of maxilla|Big maxilla|Upper jaw bone excess|Maxillary macrognathia|Upper jaw excess|Large maxilla|Maxillary prognathia|Prognathia of the upper jaw|Big upper jaw|Hyperplasia of upper jaw|Increased projection of maxilla SNOMEDCT_US:28070007|UMLS:C4280273|UMLS:C0266081|UMLS:C2227090|UMLS:C4073209|UMLS:C4280272 owl:Class HP:0000326 biolink:NamedThing Abnormality of the maxilla An abnormality of the Maxilla (upper jaw bone). hp0009lx5z Anomaly of the maxilla|Deformity of the maxilla|Abnormality of the upper jaw bone|Abnormality of the upper jaw bones|Deformity of the upper jaw bones|Malformation of the maxilla|Malformation of the upper jaw bones UMLS:C4025862 human_phenotype owl:Class HP:0010493 biolink:NamedThing Long metacarpals An abnormally increased length of the metacarpal bones. hp0009lx5z Elongated long bone of hand|Increased length of metacarpals peter 2009-09-17T10:25:37Z UMLS:C4021260 human_phenotype owl:Class HP:0005916 biolink:NamedThing Abnormal metacarpal morphology Irregularly shaped metacarpal bones of varying degree. hp0009lx5z Abnormal shape of long bones of hand|Abnormal shape of metacarpal bones peter 2008-03-27T02:17:00Z HP:0010556 UMLS:C4021615 human_phenotype owl:Class HP:0040087 biolink:NamedThing Abnormal blood folate concentration Any deviation from the normal concentration of folate in the blood circulation. hp0009lx5z Abnormal serum folate|Abnormality of folate in blood Folate is an essential water-soluble vitamin (vitamin B9) that is found in green leafy vegetables, cereals, legumes, and fruit. As a major methyl group donor, it plays an important role in one-carbon metabolism and is involved in DNA, RNA, and protein synthesis, in addition to its significant role in energy production and normal cell division. Low blood folate concentration is associated with an increased risk for neural tube defects during pregnancy. HPO:skoehler UMLS:C4021037 owl:Class HP:0012335 biolink:NamedThing Abnormality of folate metabolism An abnormality of the metabolism of folic acid, which is also known as vitamin B9. hp0009lx5z peter 2013-09-13T08:38:06Z UMLS:C4022951 human_phenotype owl:Class HP:0100003 biolink:NamedThing Peritoneal mesothelioma A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma. hp0009lx5z doelkens 2010-05-11T04:16:23Z NCIT:C3234|UMLS:C0346109|SNOMEDCT_US:109853004 human_phenotype owl:Class HP:0010989 biolink:NamedThing Abnormality of the intrinsic pathway An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. hp0009lx5z The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets. peter 2011-02-08T04:26:55Z UMLS:C4023610 human_phenotype owl:Class HP:0033029 biolink:NamedThing Anti-Jo-1 antibody positivity The presence of autoantibodies in the serum that react to the histidyl-tRNA-synthetase. hp0009lx5z Histidyl-tRNA synthetase (HRS = Jo-1) represents a key autoantibody target in the anti-synthetase syndrome that is marked by myositis as well as extra-muscular organ complications including interstitial lung disease (ILD). peter owl:Class HP:0033476 biolink:NamedThing Extractable nuclear antigen positivity The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution. hp0009lx5z 2021-01-09 22:51:15+00:00 This is a group of autoantibodies against autoantigens that can be extracted from the cell nucleus with saline. The ENAs consist of ribonucleoproteins and non-histone proteins, named by either the name of the donor who provided the prototype serum (Sm, Ro, La, Jo), or the name of the disease setting in which the antibodies were found (SS-A, SS-B, Scl-70). peter owl:Class HP:0000612 biolink:NamedThing Iris coloboma A coloboma of the iris. hp0009lx5z Coloboma of iris|Cat eye|Keyhole iris|Coloboma of the iris HP:0007748|HP:0007744 UMLS:C0240063 human_phenotype owl:Class HP:0004195 biolink:NamedThing Osteolytic defects of the phalanges of the 4th finger Osteolytic defects of the phalanges of the 4th (ring) finger. hp0009lx5z Lytic defects of the phalanges of the ring finger UMLS:C4025409|UMLS:C4020832 human_phenotype owl:Class HP:0002516 biolink:NamedThing Increased intracranial pressure An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. hp0009lx5z Intracranial hypertension|Rise in pressure inside skull|Intracranial pressure elevation Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain. SNOMEDCT_US:271719001|UMLS:C0151740|MSH:D019586 human_phenotype owl:Class HP:0012640 biolink:NamedThing Abnormality of intracranial pressure A deviation from the norm of the intracranial pressure. hp0009lx5z Intracranial pressure (i.e., the pressure inside the skull) represents the pressue in the brain tissue and in the cerebrospinal fluid (CSF). Deviations from normal are generally identified by measuring the pressure of the CSF. peter 2014-01-19T08:06:51Z UMLS:C4022809 owl:Class HP:0031887 biolink:NamedThing Abnormal chylomicron concentration Any deviation from the normal circulating concentration of chylomicrons. hp0009lx5z 2018-05-13 14:32:44+00:00 Chylomicrons are one of the major classes of lipoproteins. Like VLDL, they function to transport triacylglycerol (TAG) in the circulation. Chylomicrons are synthesized in the small intestine by enterocytes from absorbed lipids. Endothelial cells in the circulation can process TAG from chylomicrons by means of the cell-surface enzyme lipoprotein lipase, which digests the TAG to fatty acids and monoglycerides. peter owl:Class HP:0010979 biolink:NamedThing Abnormality of lipoprotein cholesterol concentration An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. hp0009lx5z Abnormality of the level of lipoprotein cholesterol Lipoproteins transport fats (lipids) in the blood circulation. Lipids are insoluble in water, meaning that they could not be transported in the blood circulation on their own. There are five major types of lipoproteins: (i) chylomicrons; VLDL (very low-density lipoprotein); (iii) IDL (intermediate-density lipoprotein); (iv) LDL (low-density lipoprotein); and (v) HDL (high-density lipoprotein). Clinical measures assess the amount of cholesterol carried by different lipoproteins. For instance, LDL-cholesterol (LDL-C) is the maount of cholesterol carried by LDL. peter 2011-02-07T09:47:29Z UMLS:C4023615 human_phenotype owl:Class HP:0031755 biolink:NamedThing Abnormal rectus muscle physiology A functional anomaly of a vertical or horizontal rectus muscle. hp0009lx5z 2018-01-21 14:27:36+00:00 peter owl:Class HP:0025590 biolink:NamedThing Abnormal extraocular muscle physiology A functional anomaly of the muscles of the eye. hp0009lx5z 2018-01-13 20:11:20+00:00 HPO:probinson owl:Class HP:0020137 biolink:NamedThing Anticardiolipin IgM antibody positivity The presence of circulating IgM autoantibodies to cardiolipin. hp0009lx5z robinp 2019-07-05 17:41:28+00:00 owl:Class HP:0003613 biolink:NamedThing Antiphospholipid antibody positivity The presence of circulating autoantibodies to phospholipids. hp0009lx5z Antiphospholipid antibodies|Phospholipid antibody positivity|Antiphospholipid antibody This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies. UMLS:C4019436 human_phenotype owl:Class HP:0000471 biolink:NamedThing Gastrointestinal angiodysplasia Dysplasia affecting the vasculature of the gastrointestinal tract. hp0009lx5z GI angiodysplasia UMLS:C0854242 human_phenotype owl:Class HP:0004296 biolink:NamedThing Abnormality of gastrointestinal vasculature hp0009lx5z Abnormality of GI blood vessels|Abnormality of GI vasculature peter 2008-02-20T11:24:00Z UMLS:C4025361 human_phenotype owl:Class HP:0012623 biolink:NamedThing Stage 1 chronic kidney disease A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). hp0009lx5z Proteinuria is commonly seen in stage 1 chronic kidney disease. peter 2014-01-17T01:20:48Z UMLS:C2316401|SNOMEDCT_US:431855005 human_phenotype owl:Class HP:0012622 biolink:NamedThing Chronic kidney disease Functional anomaly of the kidney persisting for at least three months. hp0009lx5z Renal failure, progressive|Loss of renal function|Renal insufficiency, progressive|Progressive renal insufficiency|Progressive renal failure|Chronic kidney disease peter 2014-01-17T01:14:52Z HP:0008671|HP:0001918|HP:0000106 SNOMEDCT_US:709044004|MSH:D051436|UMLS:C1561643|UMLS:C0748318 human_phenotype owl:Class HP:0100831 biolink:NamedThing Abnormality of vitamin K metabolism Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. hp0009lx5z Abnormality of vitamin K metabolism doelkens 2011-06-09T05:46:50Z UMLS:C4021958 human_phenotype owl:Class HP:0100508 biolink:NamedThing Abnormality of vitamin metabolism An anomaly in the metabolism of a vitamin. hp0009lx5z Abnormality of vitamin metabolism Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. doelkens 2010-12-17T06:17:22Z UMLS:C4022036 human_phenotype owl:Class HP:0009985 biolink:NamedThing Duplication of phalanx of 5th finger This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. hp0009lx5z Partial/complete duplication of phalanges of the 5th finger|Partial/complete duplication of pinky finger bone|Partial/complete duplication of little finger bone|Partial/complete duplication of pinkie finger bone doelkens 2009-05-26T02:23:38Z UMLS:C4021354 human_phenotype owl:Class HP:0008507 biolink:NamedThing Static ophthalmoparesis hp0009lx5z UMLS:C4024663 human_phenotype owl:Class HP:0100513 biolink:NamedThing Low levels of vitamin E A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. hp0009lx5z Alpha-tocopherol deficiency|Vitamin E deficiency doelkens 2010-12-17T06:20:12Z SNOMEDCT_US:54137008|UMLS:C0042875|MSH:D014811 human_phenotype owl:Class HP:0100514 biolink:NamedThing Abnormality of vitamin E metabolism hp0009lx5z Abnormality of vitamin E metabolism doelkens 2010-12-17T06:20:30Z UMLS:C4022034 human_phenotype owl:Class HP:0008857 biolink:NamedThing Neonatal short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. hp0009lx5z Short-trunk dwarfism identifiable at birth UMLS:C3149908 human_phenotype owl:Class HP:0003521 biolink:NamedThing Disproportionate short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. hp0009lx5z Short-trunked dwarfism|Disproportionate short-trunked dwarfism|Disproportionate short-trunked short stature HP:0001524|HP:0008923|HP:0003500 UMLS:C1846435 owl:Class HP:0003623 biolink:NamedThing Neonatal onset Onset of signs or symptoms of disease within the first 28 days of life. hp0009lx5z Neonatal onset|Onset in neonatal period|Onset in first weeks of life HP:0003622 UMLS:C1855106 human_phenotype owl:Class HP:0003674 biolink:NamedThing Onset The age group in which disease manifestations appear. hp0009lx5z Age of onset|Age symptoms begin Adolescent is defined by WHO as a person between 10-19 years of age. HP:0003630|HP:0003618|HP:0003603|HP:0003602|HP:0003626|HP:0003590|HP:0003663|HP:0003597|HP:0003628|HP:0003668|HP:0011007|HP:0003664|HP:0003588 UMLS:C0206132|MSH:D017668 human_phenotype owl:Class HP:0001698 biolink:NamedThing Pericardial effusion Accumulation of fluid within the pericardium. hp0009lx5z Fluid around heart|Pericardial effusions UMLS:C0031039|Fyler:1940|SNOMEDCT_US:373945007|MSH:D010490 owl:Class HP:0001697 biolink:NamedThing Abnormal pericardium morphology An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. hp0009lx5z Abnormality of the pericardium Fyler:1900|UMLS:C4025754 owl:Class HP:0032493 biolink:NamedThing Increased circulating trypsinogen An abnormally high concentration of trypsinogen in the blood circulation. hp0009lx5z Increased immunoreactive trypsinogen 2019-04-12 10:39:08+00:00 An elevated immunoreactive trypsinogen test can be observed in infants with cystic fibrosis. peter owl:Class HP:0010876 biolink:NamedThing Abnormal circulating protein concentration An abnormal level of a circulating protein in the blood. hp0009lx5z Serum protein abnormality|Abnormality of circulating protein level|Abnormal circulating protein level|Blood protein disease peter 2010-09-07T01:51:12Z UMLS:C4023679|UMLS:C4020764|UMLS:C4020763 owl:Class HP:0100720 biolink:NamedThing Hypoplasia of the ear cartilage hp0009lx5z Underdeveloped ear cartilage doelkens 2011-06-06T02:17:54Z UMLS:C4021986 human_phenotype owl:Class HP:0100205 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 5th toe hp0009lx5z Enlarged end part of the outermost bone of the little toe|Enlarged end part of the outermost bone of the pinky toe|Enlarged end part of the outermost bone of the pinkie toe doelkens 2010-06-24T05:03:31Z UMLS:C4022216 human_phenotype owl:Class HP:0100097 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 5th toe hp0009lx5z Abnormality of the end part of the outermost bone of the pinky toe|Abnormality of the end part of the outermost bone of the little toe|Abnormality of the end part of the outermost bone of the pinkie toe doelkens 2010-06-24T10:02:41Z UMLS:C4022324 human_phenotype owl:Class HP:0100377 biolink:NamedThing Aplasia/hypoplasia of the proximal phalanx of the 5th toe Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe. hp0009lx5z Absent/small innermost pinky toe bone|Absent/small innermost pinkie toe bone|Absent/small innermost little toe bone|Absent/underdeveloped innermost 5th toe bone UMLS:C4022114 human_phenotype owl:Class HP:0002093 biolink:NamedThing Respiratory insufficiency hp0009lx5z Respiratory function loss|Respiratory impairment|progressive respiratory failure HP:0004893|HP:0005937|HP:0006542 UMLS:C0035229|SNOMEDCT_US:409623005|MSH:D012131|UMLS:C4020855 human_phenotype owl:Class HP:0100546 biolink:NamedThing Carotid artery stenosis Narrowing of the carotid arteries. hp0009lx5z Narrowing of carotid artery|Carotid stenosis Carotid artery stenosis is usually caused by caused by atherosclerosis. doelkens 2010-12-21T01:31:46Z SNOMEDCT_US:64586002|MSH:D016893|UMLS:C0007282 human_phenotype owl:Class HP:0100545 biolink:NamedThing Arterial stenosis Narrowing or constriction of the inner surface (lumen) of an artery. hp0009lx5z Narrowing of an artery doelkens 2010-12-21T01:30:07Z SNOMEDCT_US:68109007|UMLS:C0038449 human_phenotype owl:Class HP:0006438 biolink:NamedThing Enlargement of the distal femoral epiphysis An abnormal enlargement of the distal epiphysis of the femur. hp0009lx5z Enlargement of the outermost thighbone end part|Large distal femoral epiphyses UMLS:C1843105 human_phenotype owl:Class HP:0010590 biolink:NamedThing Abnormality of the distal femoral epiphysis Any abnormality of the distal epiphysis of the femur. hp0009lx5z Abnormality of the end part of the outermost thighbone sandra1 2009-10-22T03:00:23Z UMLS:C4023783 human_phenotype owl:Class HP:0004248 biolink:NamedThing Abnormality of the lunate bone hp0009lx5z UMLS:C4025393 human_phenotype owl:Class HP:0001191 biolink:NamedThing Abnormality of the carpal bones An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). hp0009lx5z Abnormal carpal bones|Anomalous carpal bones|Carpal bone anomalies|Abnormal wrist bones UMLS:C1840535 human_phenotype owl:Class HP:0004925 biolink:NamedThing Chronic lactic acidosis A chronic form of lactic acidemia. hp0009lx5z HP:0004899 UMLS:C1839437 human_phenotype owl:Class HP:0003128 biolink:NamedThing Lactic acidosis An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. hp0009lx5z Lacticacidosis|Lactic acidemia|Hyperlacticacidemia|Increased lactate in body|Lacticacidemia Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably. HP:0005960|HP:0003255 UMLS:C0347959|UMLS:C0001125|SNOMEDCT_US:91273001|SNOMEDCT_US:190882007|MSH:D000140 human_phenotype owl:Class HP:0012264 biolink:NamedThing Absent central microtubular pair morphology of respiratory motile cilia Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. hp0009lx5z peter 2013-04-07T10:12:06Z UMLS:C4022982 human_phenotype owl:Class HP:0005938 biolink:NamedThing Abnormal respiratory motile cilium morphology Abnormal arrangement of the structures of the motile cilium. hp0009lx5z UMLS:C4025100 human_phenotype owl:Class HP:0031607 biolink:NamedThing Pelvic organ prolapse Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position. hp0009lx5z 2017-12-09 14:09:47+00:00 peter owl:Class HP:0001438 biolink:NamedThing Abnormal abdomen morphology A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. hp0009lx5z Abnormality of abdomen structure|Abnormality of the abdomen|Abdomen abnormality|Abnormality of abdomen morphology UMLS:C4020869 human_phenotype owl:Class HP:0000099 biolink:NamedThing Glomerulonephritis Inflammation of the renal glomeruli. hp0009lx5z Glomerular nephritis UMLS:C0017658|MSH:D005921|SNOMEDCT_US:36171008 owl:Class HP:0000123 biolink:NamedThing Nephritis The presence of inflammation affecting the kidney. hp0009lx5z Kidney inflammation HP:0008634 UMLS:C0027697|SNOMEDCT_US:52845002|MSH:D009393 human_phenotype owl:Class HP:0100904 biolink:NamedThing Sclerosis of the middle phalanx of the 2nd finger hp0009lx5z Increased bone density in the middle bone of the index finger UMLS:C4021938 human_phenotype owl:Class HP:0010160 biolink:NamedThing Abnormality of the epiphyses of the toes hp0009lx5z Abnormality of the end part of the toe bones doelkens 2009-05-29T01:30:42Z UMLS:C4023999 human_phenotype owl:Class HP:0100426 biolink:NamedThing Broad middle phalanx of the 4th toe hp0009lx5z Broad middle 4th toe bone UMLS:C4022101 human_phenotype owl:Class HP:0010195 biolink:NamedThing Broad middle phalanges of the toes hp0009lx5z Broad middle bones of the toes doelkens 2009-05-29T01:53:35Z UMLS:C4023975 human_phenotype owl:Class HP:0001430 biolink:NamedThing Abnormality of the calf musculature hp0009lx5z Abnormal calf muscles|Abnormality of calf musculature peter 2008-04-07T10:18:00Z HP:0004300 UMLS:C4021779 human_phenotype owl:Class HP:0007980 biolink:NamedThing Absent retinal pigment epithelium hp0009lx5z UMLS:C1852548 human_phenotype owl:Class HP:0007894 biolink:NamedThing Hypopigmentation of the fundus Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). hp0009lx5z Fundus hypopigmentation|Decreased fundus pigmentation HP:0001111|HP:0007746|HP:0007752|HP:0001487 UMLS:C0151891|SNOMEDCT_US:95694000 human_phenotype owl:Class HP:0002980 biolink:NamedThing Femoral bowing Bowing (abnormal curvature) of the femur. hp0009lx5z Bowed femura|Bowed thighbone|Bowed femurs|Bowed femur HP:0004998 UMLS:C1859461 owl:Class HP:0012070 biolink:NamedThing Chondroitin sulfate excretion in urine An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. hp0009lx5z Chondroitin sulphate excretion in urine Chondroitin sulfate refers to a class of 10-60 kDa glycosaminoglycan sulfates, which are widely distributed in cartilage. hecht 2012-08-04T03:22:36Z UMLS:C4023059 human_phenotype owl:Class HP:0008155 biolink:NamedThing Mucopolysacchariduria Excessive amounts of mucopolysaccharide in the urine. hp0009lx5z This finding is suggestive of the diagnosis of a mucopolysaccharidosis. HP:0003567 UMLS:C4024726 human_phenotype owl:Class HP:0100392 biolink:NamedThing Short middle phalanx of the 3rd toe Developmental hypoplasia of the middle phalanx of third toe. hp0009lx5z Hypoplastic/small middle phalanx of the 3rd toe|Short middle phalanx of the third toe UMLS:C4021005 human_phenotype owl:Class HP:0005739 biolink:NamedThing Posterior subluxation of radial head Partial dislocation of the head of the radius in the posterior direction. hp0009lx5z UMLS:C3149878 human_phenotype owl:Class HP:0003048 biolink:NamedThing Radial head subluxation Partial dislocation of the head of the radius. hp0009lx5z Radial-head subluxation|Radial subluxation UMLS:C0149977|SNOMEDCT_US:417109008|SNOMEDCT_US:95854004 human_phenotype owl:Class HP:0031972 biolink:NamedThing Presyncope Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. hp0009lx5z 2018-07-08 00:03:46+00:00 peter owl:Class HP:0032326 biolink:NamedThing Methicillin-resistant Staphylococcus aureus infection Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection. hp0009lx5z MRSA infection 2019-02-14 12:04:53+00:00 peter owl:Class HP:0032260 biolink:NamedThing Opportunistic bacterial infection An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system. hp0009lx5z 2019-01-27 18:37:49+00:00 peter owl:Class HP:0002200 biolink:NamedThing Pseudobulbar signs Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. hp0009lx5z Pseudobulbar symptoms UMLS:C1838579 human_phenotype owl:Class HP:0009179 biolink:NamedThing Deviation of the 5th finger Displacement of the 5th finger from its normal position. hp0009lx5z Displaced pinkie finger|Laterally displaced fifth finger|Displaced pinky finger|Displaced little finger peter 2008-12-29T03:29:20Z HP:0006036 UMLS:C4021515 human_phenotype owl:Class HP:0500195 biolink:NamedThing Abnormal CSF glutamine family amino acid concentration Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid. hp0009lx5z Abnormal glutamine family amino acid levels in cerebrospinal fluid 2019-02-25 16:41:53+00:00 owl:Class HP:0500184 biolink:NamedThing Abnormal CSF amino acid concentration Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. hp0009lx5z Abnormal amino acid levels in cerebrospinal fluid|Abnormal CSF amino acid level|Abnormal cerebrospinal fluid amino acid level 2019-02-25 15:20:22+00:00 HP:0032364 owl:Class HP:0031780 biolink:NamedThing Eosinophilic ascites A type of ascites in which there are large numbers of eosinophils in the ascitis fluid. hp0009lx5z 2018-01-27 12:22:52+00:00 peter owl:Class HP:0032064 biolink:NamedThing Gastrointestinal eosinophilia Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them. hp0009lx5z Eosinophilic gastrointestinal disorders|Eosinophilic gastroenteritis|Eosinophilic gastrointestinal disease|GI eosinophilia|Eosinophilic enteritis 2018-09-16 12:23:19+00:00 peter owl:Class HP:0100108 biolink:NamedThing Small epiphysis of the distal phalanx of the 2nd toe hp0009lx5z Small end part of the outermost bone of the 2nd toe doelkens 2010-06-24T10:04:20Z UMLS:C4022313 human_phenotype owl:Class HP:0100052 biolink:NamedThing Small epiphyses of the 2nd toe hp0009lx5z Small end part of the 2nd toe bone doelkens 2010-06-24T09:58:18Z UMLS:C4022369 human_phenotype owl:Class HP:0004991 biolink:NamedThing Rhizomelic arm shortening Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). hp0009lx5z UMLS:C1969532 human_phenotype owl:Class HP:0008905 biolink:NamedThing Rhizomelia Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). hp0009lx5z Symmetrical rhizomelic limb shortening|Short stature, rhizomelic|Rhizomelic dwarfism|Rhizomelic short stature|Rhizomelic shortening|Disproportionately short upper portion of limb|Rhizomelic short limbs|Rhizomelic limb shortening HP:0008877|HP:0003520|HP:0008852|HP:0002968 UMLS:C1866730 human_phenotype owl:Class HP:0011292 biolink:NamedThing EEG with occipital sharp waves EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec. hp0009lx5z peter 2012-02-11T12:31:29Z UMLS:C2206521 human_phenotype owl:Class HP:0033720 biolink:NamedThing EEG with occipital epileptiform discharges Focal epileptiform EEG discharges recorded in the occipital region. hp0009lx5z 2021-04-07 13:02:17+00:00 peter owl:Class HP:0000364 biolink:NamedThing Hearing abnormality An abnormality of the sensory perception of sound. hp0009lx5z Abnormal hearing|Hearing abnormality According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. UMLS:C4025860 human_phenotype owl:Class HP:0031704 biolink:NamedThing Abnormal ear physiology Any functional anomaly of the ear. hp0009lx5z 2017-12-18 00:20:24+00:00 peter owl:Class HP:0011024 biolink:NamedThing Abnormality of the gastrointestinal tract An abnormality of the gastrointestinal tract. hp0009lx5z Gastrointestinal disease|Digestive system disease|Abnormality of the gastrointestinal tract|Abnormality of the GI tract peter 2011-03-01T07:52:06Z MSH:D004066|MSH:D005767|UMLS:C0012242|SNOMEDCT_US:53619000|SNOMEDCT_US:25374005|UMLS:C4023588|UMLS:C0017178|SNOMEDCT_US:119292006 human_phenotype owl:Class HP:0032677 biolink:NamedThing Generalized-onset motor seizure A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. hp0009lx5z Generalised-onset motor seizure|Generalized onset motor seizure|Generalised onset motor seizure peter owl:Class HP:0020219 biolink:NamedThing Motor seizure A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. hp0009lx5z This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. robinp 2020-02-24 14:20:36+00:00 owl:Class HP:0010367 biolink:NamedThing Duplication of phalanx of the 3rd toe Partial or complete duplication of phalanx of third toe. hp0009lx5z Partial/complete duplication of the phalanges of the 3rd toe|Duplication of 3rd toe bone|Duplication of phalanx of the third toe doelkens 2009-07-16T11:51:17Z UMLS:C4021282 human_phenotype owl:Class HP:0010181 biolink:NamedThing Duplication of phalanx of toe Partial/complete duplication of one or more phalanx of toe. hp0009lx5z Partial/complete duplication of the phalanges of the toes|Duplicated toe bone doelkens 2009-05-29T01:39:26Z UMLS:C4021328 human_phenotype owl:Class HP:0500039 biolink:NamedThing Conjunctival cicatrization An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring. hp0009lx5z Cicatricial conjunctivitis|Cicatrizating conjunctivitis|Conjunctival cicatricial conjunctivitis 2018-02-02 14:47:58+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0030947 biolink:NamedThing Conjunctival follicles Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells. hp0009lx5z 2017-01-13 20:23:46+00:00 The follicles in follicular conjunctivitis are usually most prominent in the inferior palpebral and forniceal conjunctiva. As compared to conjunctival papillae, conjunctival follicles appear more pale on the surface and redder at the base. robinp owl:Class HP:0009951 biolink:NamedThing Partial duplication of the distal phalanx of the 2nd finger Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Partial duplication of the outermost bone of the 2nd finger|Bifid terminal phalanx of the 2nd finger|Notched outermost bone of the index finger doelkens 2009-05-15T02:03:28Z UMLS:C4021365 human_phenotype owl:Class HP:0009956 biolink:NamedThing Partial duplication of the phalanges of the 2nd finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. hp0009lx5z Partial duplication of the bones of the index finger doelkens 2009-05-15T02:07:41Z UMLS:C4024146 human_phenotype owl:Class HP:0004558 biolink:NamedThing Cervical platyspondyly A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. hp0009lx5z Flattened cervical vertebral bodies HP:0005641 UMLS:C1856641 human_phenotype owl:Class HP:0046508 biolink:NamedThing Abnormal cervical spine morphology Any morphological abnormality of the cervical vertebral column. hp0009lx5z SNOMED_CT:298391004 owl:Class HP:0009162 biolink:NamedThing Absent middle phalanx of 5th finger Absence of the middle phalanx of the little (5th) finger. hp0009lx5z Absent middle bone of little finger|Absent middle bone of pinkie finger|Aplasia of the middle phalanx of the 5th finger|Absent middle bone of pinky finger peter 2008-12-22T06:08:40Z HP:0005774 UMLS:C3277750 human_phenotype owl:Class HP:0009161 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 5th finger Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. hp0009lx5z Absent/small middle bone of pinky finger|Absent/underdeveloped middle bone of pinkie finger|Absent/underdeveloped middle bone of pinky finger|Absent/underdeveloped middle bone of little finger|Absent/hypoplastic middle phalanx of 5th finger peter 2008-12-22T05:55:56Z HP:0006242 UMLS:C1834034 human_phenotype owl:Class HP:0033086 biolink:NamedThing Increased antral follicle count A count of antral follicles that is higher than normal for age. hp0009lx5z peter owl:Class HP:0010675 biolink:NamedThing Abnormal foot bone ossification An abnormality of the formation and mineralization of any bone of the skeleton of foot. hp0009lx5z Abnormal maturation of foot bones|Abnormality of the mineralisation and ossification of bones of the feet|Abnormal ossification involving bones of the feet sandra1 2010-02-28T05:27:47Z HP:0009133|HP:0008370 UMLS:C4020768|UMLS:C4021241|UMLS:C4280367 human_phenotype owl:Class HP:0003336 biolink:NamedThing Abnormal enchondral ossification An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. hp0009lx5z This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy. HP:0003331 UMLS:C4025628 human_phenotype owl:Class HP:0003311 biolink:NamedThing Hypoplasia of the odontoid process Developmental hypoplasia of the dens of the axis. hp0009lx5z Small odontoid process|Hypoplastic odontoid process|Odontoid hypoplasia|Small odontoid peg HP:0004613|HP:0008481|HP:0003299 UMLS:C1846439 human_phenotype owl:Class HP:0008518 biolink:NamedThing Aplasia/Hypoplasia involving the vertebral column hp0009lx5z Absent/underdeveloped spine|Absent/underdeveloped vertebral column|Absent/small spine|Absent/small backbone|Absent/underdeveloped backbone|Absent/small vertebral column peter 2008-04-04T02:33:00Z UMLS:C4024659 human_phenotype owl:Class HP:0031720 biolink:NamedThing Simulated distance exotropia Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation. hp0009lx5z 2018-01-13 13:40:55+00:00 peter owl:Class HP:0031714 biolink:NamedThing Distance exotropia A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent. hp0009lx5z 2018-01-13 13:25:53+00:00 peter owl:Class HP:0001791 biolink:NamedThing Fetal ascites Accumulation of fluid in the peritoneal cavity during the fetal period. hp0009lx5z Foetal ascites SNOMEDCT_US:363125002|UMLS:C1285291 human_phenotype owl:Class HP:0001197 biolink:NamedThing Abnormality of prenatal development or birth An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. hp0009lx5z Abnormality of prenatal development or birth Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. UMLS:C4025797 human_phenotype owl:Class HP:0004241 biolink:NamedThing Stippled calcification in carpal bones Point-shaped (punctate) calcifications affecting the carpal bones. hp0009lx5z Punctate calcifications of carpals HP:0006177 UMLS:C1844846 human_phenotype owl:Class HP:0009164 biolink:NamedThing Abnormal calcification of the carpal bones hp0009lx5z Carpal calcifications|Abnormal calcification of the wrist bones peter 2008-12-22T06:53:39Z HP:0006154 UMLS:C1968592 human_phenotype owl:Class HP:0100593 biolink:NamedThing Calcification of cartilage hp0009lx5z doelkens 2010-12-27T04:35:28Z UMLS:C4022015 human_phenotype owl:Class HP:0200011 biolink:NamedThing Abnormal length of corpus callosum hp0009lx5z sebastiankohler 2010-06-09T11:52:00Z UMLS:C4021903 human_phenotype owl:Class HP:0009770 biolink:NamedThing Curved phalanges of the hand hp0009lx5z Curved hand bones doelkens 2009-02-02T11:38:04Z UMLS:C4024211 human_phenotype owl:Class HP:0003791 biolink:NamedThing Deposits immunoreactive to beta-amyloid protein hp0009lx5z UMLS:C1853934 owl:Class HP:0004303 biolink:NamedThing Abnormal muscle fiber morphology Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. hp0009lx5z Abnormality of muscle fibres|Abnormal skeletal muscle fibre morphology|Abnormal muscle fibre morphology|Abnormality of muscle fibers|Abnormal skeletal muscle fiber morphology Normal human muscle is composed of many individual muscle fibers bundled together by layers of connective tissue that are arranged in a nesting-doll like fashion. The inner most structure, the single muscle fiber, is covered by a thin layer of primarily reticular fibers called the endomysium. The endomysium is quite inconspicuous and muscle fibers appear to be in direct contact with each other. The finest capillaries, nerve twigs and lymphatic capillaries are found within the endomysium. Groups of muscle fibers are bound together by the thicker perimysium, forming structures called fascicles. Capillaries, nerve fibers and lymphatic vessels also track in the perimyseum. Bundles of fascicles are encased within the dense irregular connective tissue of the epimysium. These connective tissue layers provide mechanical protection for the muscle fibers and increase the tensile strength of the muscle. The layers are continuous with the tendon, which provides attachment to bone. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Each nucleus provides a segment of the cell with needed translated protein products. peter 2008-02-20T12:04:00Z HP:0003706|HP:0011806 UMLS:C4021663 owl:Class HP:0033653 biolink:NamedThing Bronchocele A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion. hp0009lx5z 2021-02-24 13:34:13+00:00 See Figure 13 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0011359 biolink:NamedThing Dry hair Hair that lacks the lustre (shine or gleam) of normal hair. hp0009lx5z Dry hair peter 2012-03-01T04:24:09Z HP:0200077|HP:0200080|HP:0200079 UMLS:C0277960|SNOMEDCT_US:79395009 human_phenotype owl:Class HP:0010719 biolink:NamedThing Abnormality of hair texture An abnormality of the texture of the hair. hp0009lx5z Abnormality of hair curl pattern|Abnormality of hair texture|Abnormality of hair volume|Abnormality of hair consistency sdoelken 2010-04-20T09:41:53Z HP:0002295|HP:0003776 UMLS:C4072881|UMLS:C4023722|UMLS:C4072880|UMLS:C4073290 owl:Class HP:0002511 biolink:NamedThing Alzheimer disease A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. hp0009lx5z Late-onset form of familial Alzheimer disease|Alzheimer disease Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features. HP:0007213|HP:0006878 MSH:D000544|MSH:C536595|SNOMEDCT_US:26929004|UMLS:C0002395|MONDO:0004975|UMLS:C1863051|SNOMEDCT_US:230267005|DOID:10652 owl:Class HP:0002011 biolink:NamedThing Morphological central nervous system abnormality A structural abnormality of the central nervous system. hp0009lx5z Morphological abnormality of the central nervous system|Central nervous system disease|Abnormality of the central nervous system|Morphological abnormality of the CNS HP:0002405|HP:0002413|HP:0002481|HP:0007319 UMLS:C0007682|MSH:D002493|SNOMEDCT_US:23853001|UMLS:C4021765 owl:Class HP:0004632 biolink:NamedThing Cervical segmentation defect An abnormality related to a defect of vertebral separation of cervical vertebrae during development. hp0009lx5z Cervical spine segmentation defect HP:0004612 UMLS:C1862415 human_phenotype owl:Class HP:0003422 biolink:NamedThing Vertebral segmentation defect An abnormality related to a defect of vertebral separation during development. hp0009lx5z Abnormal spinal segmentation The vertebral column derives from somites, transient paired segments of mesoderm that surround the neural tube in the early embryo. The formation of the vertebrar involves many processes including resegmentation of the rostral and caudal regions of adjacent somites that then fuse to form vertebral elements. Disruption of these processes can a cause of severe segmentation defects of the vetebrae. The frequency of segmentation defects of the vetebra has been estimated at 0.5 of 1000 births. The range of segmentation defects includes left-right uneven formation of somites that results in hemivertebrae or wedge vertebrae. Incomplete segmentation can result in fused segments such as block vertebrae. A failure of the process of resegmentation and migration of the sclerotomal compartment can result in a failure of midline fusion, such as butterlfy vertebrae. HP:0005705 UMLS:C0432163|SNOMEDCT_US:205455005 human_phenotype owl:Class HP:0030567 biolink:NamedThing Best corrected visual acuity 2.0 LogMAR hp0009lx5z UMLS:C4073040 owl:Class HP:0030534 biolink:NamedThing Abnormal best corrected visual acuity test hp0009lx5z UMLS:C4073008 owl:Class HP:0041144 biolink:NamedThing Fractured clavicle bone A partial or complete breakage of the clavicle bone. hp0009lx5z bone clavicle bone owl:Class HP:0003084 biolink:NamedThing Fractures of the long bones An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). hp0009lx5z Increased long bone fracture rate HP:0005847 UMLS:C0240231 human_phenotype owl:Class HP:0011927 biolink:NamedThing Short digit One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. hp0009lx5z Very short digits|Short digit Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156. peter 2012-06-10T09:18:42Z UMLS:C4023124|UMLS:C1860176 human_phenotype owl:Class HP:0010376 biolink:NamedThing Patchy sclerosis of 4th toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Uneven increase in bone density in 4th toe bone|Patchy sclerosis of the phalanges of the 4th toe doelkens 2009-07-16T11:51:46Z UMLS:C4021279 human_phenotype owl:Class HP:0100928 biolink:NamedThing Sclerosis of 4th toe phalanx An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in 4th toe bone|Sclerosis of the phalanges of the 4th toe UMLS:C4020928 human_phenotype owl:Class HP:0032684 biolink:NamedThing Focal aware cognitive seizure with auditory agnosia A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0032685 biolink:NamedThing Focal cognitive seizure with auditory agnosia A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing. hp0009lx5z Auditory agnosia is the inability to recognize or differentiate between sounds / words or to relate them to their meaning despite being able to hear them. peter owl:Class HP:0010641 biolink:NamedThing Abnormality of the midnasal cavity Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. hp0009lx5z doelkens 2009-12-17T04:58:21Z UMLS:C4021861 human_phenotype owl:Class HP:0010640 biolink:NamedThing Abnormality of the nasal cavity Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). hp0009lx5z doelkens 2009-12-17T04:56:17Z UMLS:C4023763 human_phenotype owl:Class HP:0033103 biolink:NamedThing Elevated circulating CHI3L1 level Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation. hp0009lx5z Elevated circulating chitinase 3-like 1 level|Elevated circulating YKL40 level Chitinase 3-like 1 (CHI3L1; previously known as YKL-40) is a glycoprotein with homology to the chitinase protein family, but without chitinase activity. Elevations of serum CHI3L1 can be measured by ELISA and are related to some kinds of bone disease. peter owl:Class HP:0010010 biolink:NamedThing Abnormality of the 2nd metacarpal Any abnormality of the second metacarpal bone. hp0009lx5z Abnormality of the 2nd long bone of hand doelkens 2009-05-27T03:35:21Z UMLS:C4024113 human_phenotype owl:Class HP:0007302 biolink:NamedThing Bipolar affective disorder hp0009lx5z Bipolar disorder HP:0000755 UMLS:C0005586|SNOMEDCT_US:13746004|MSH:D001714 owl:Class HP:0100754 biolink:NamedThing Mania A state of abnormally elevated or irritable mood, arousal, and or energy levels. hp0009lx5z Manic doelkens 2011-06-07T09:54:05Z MSH:D001714|SNOMEDCT_US:231494001|UMLS:C0338831 human_phenotype owl:Class HP:0002318 biolink:NamedThing Cervical myelopathy hp0009lx5z SNOMEDCT_US:202664003|UMLS:C0149645 human_phenotype owl:Class HP:0002196 biolink:NamedThing Myelopathy hp0009lx5z UMLS:C0037928|MSH:D013118|SNOMEDCT_US:48522003 human_phenotype owl:Class HP:0003053 biolink:NamedThing Epiphyseal deformities of tubular bones hp0009lx5z UMLS:C1854786 human_phenotype owl:Class HP:0005930 biolink:NamedThing Abnormality of epiphysis morphology An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. hp0009lx5z Epiphyseal abnormality|Anomaly of the epiphyses|Abnormality of the epiphyses|Abnormal shape of end part of bone peter 2008-03-27T03:00:00Z HP:0000936 UMLS:C4021611 human_phenotype owl:Class HP:0012541 biolink:NamedThing Cephalohematoma Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum. hp0009lx5z Cephalohaematoma Cephalohematoma is generally caused by trauma during labor. peter 2013-12-15T10:37:57Z SNOMEDCT_US:206200000|UMLS:C0007722|SNOMEDCT_US:83095000 human_phenotype owl:Class HP:0033490 biolink:NamedThing Glomerular endocapillary foam-cell hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. hp0009lx5z 2021-01-10 12:59:28+00:00 peter owl:Class HP:0033488 biolink:NamedThing Glomerular endocapillary leukocyte hypercellularity Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. hp0009lx5z Glomerular endocapillary hypercellularity consisting of leukocytes 2021-01-10 12:54:45+00:00 The optimal demonstration of leukocytes may require immunohistochemistry. peter owl:Class HP:0100681 biolink:NamedThing Esophageal duplication A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication. hp0009lx5z Esophageal duplication is a rare cause of mediastinal mass. An esophageal duplication may be a simple epithelial cyst or duplication that contains muscle and submucosa but not epithelium. In most cases, the duplication is located in the lower thrid of the esophagus, and the most common associated symptom is difficulty in swallowing. Esophageal duplication occurs because of maldevelopment of the posterior division of embryonic foregut. doelkens 2010-12-30T02:08:38Z UMLS:C0266135|SNOMEDCT_US:66865009 human_phenotype owl:Class HP:0011140 biolink:NamedThing Gastrointestinal duplication A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus. hp0009lx5z GI duplication peter 2011-06-25T09:02:50Z UMLS:C0266019|SNOMEDCT_US:33257003 human_phenotype owl:Class HP:0005021 biolink:NamedThing Bilateral elbow dislocations hp0009lx5z Dislocated elbows on both sides UMLS:C3278429 human_phenotype owl:Class HP:0003042 biolink:NamedThing Elbow dislocation Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. hp0009lx5z Dislocations of the elbows|Radiocapitellar dislocation|Ulnohumeral dislocation|Elbow dislocation|Elbow dislocations|Radiohumeral dislocation HP:0006411 UMLS:C1403299|SNOMEDCT_US:125617002|SNOMEDCT_US:417558002|UMLS:C2720437|UMLS:C1403321 human_phenotype owl:Class HP:0010797 biolink:NamedThing Hemangioblastoma A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter. hp0009lx5z Haemangioblastoma peter 2010-06-25T09:18:32Z MSH:D018325|NCIT:C3801|SNOMEDCT_US:81201000|UMLS:C0206734 human_phenotype owl:Class HP:0010464 biolink:NamedThing Streak ovary A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. hp0009lx5z peter 2009-09-15T08:42:35Z UMLS:C0266371|SNOMEDCT_US:70550008 human_phenotype owl:Class HP:0006228 biolink:NamedThing Valgus hand deformity hp0009lx5z UMLS:C1860179 human_phenotype owl:Class HP:0100284 biolink:NamedThing EMG: myotonic discharges High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. hp0009lx5z doelkens 2010-08-10T01:02:13Z UMLS:C4022169 human_phenotype owl:Class HP:0010289 biolink:NamedThing Cleft of alveolar ridge of maxilla A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. hp0009lx5z Cleft of gum ridge|Alveolar ridge cleft|Cleft of alveolar process|Notch of gum ridge|Notch of alveolar ridge|Notch of alveolar process peter 2009-07-12T10:47:29Z UMLS:C1398533|UMLS:C2919907|UMLS:C4280386|SNOMEDCT_US:445306000 human_phenotype owl:Class HP:0410005 biolink:NamedThing Cleft hard palate hp0009lx5z Cleft bony palate|Cleft of hard palate UMLS:C0432090|SNOMEDCT_US:448915004 owl:Class HP:0032804 biolink:NamedThing Focal impaired awareness sensory seizure with olfactory features A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0032811 biolink:NamedThing Neonatal electrographic only seizure Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation. hp0009lx5z The duration of the seizures has to be sufficient to demonstrate evolution in frequency and morphology of the discharges on electroencephalography, which will depend on the frequency of the discharge. The duration is arbitrary but needs to be sufficient to allow recognition of onset, evolution and resolution of an abnormal discharge. This type of seizure is particular to the neonatal period; beyond this electrographic appearance of a seizure must be associated with a clinical correlate to be classed as a seizure. peter owl:Class HP:0032808 biolink:NamedThing Neonatal seizure with electrographic correlate Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation. hp0009lx5z Neonatal seizures need to be considered as a special category because of biological peculiarities, such as the immaturity of the neonatal central nervous system. Therefore, seizures are defined first as an electrographic event, that can be associated or not with clinical manifestations. Seizure types are further classified following ILAE 2017 seizure classification, however awarness is not assessable in neonates. The distinction motor vs. non motor seizure is kept, but here it reflects the predominant clinical manifestation, rather than the onset of the seizure as in adult classification. peter owl:Class HP:0008460 biolink:NamedThing Hypoplastic spinal processes hp0009lx5z Underdeveloped spinal processes UMLS:C4024674 human_phenotype owl:Class HP:0011804 biolink:NamedThing Abnormal muscle physiology A functional abnormality of a skeletal muscle. hp0009lx5z Abnormality of muscle physiology|Issue with muscle function peter 2012-04-25T02:00:15Z UMLS:C4023182 human_phenotype owl:Class HP:0010034 biolink:NamedThing Short 1st metacarpal A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. hp0009lx5z First metacarpals hypoplastic|Short first metacarpals|Shortened 1st long bone of hand|First metacarpal hypoplasia|Short first metacarpal|Hypoplastic 1st metacarpal In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. doelkens 2009-05-27T04:24:50Z HP:0001190|HP:0006141|HP:0005898|HP:0001499 UMLS:C1849311 human_phenotype owl:Class HP:0009660 biolink:NamedThing Short phalanx of the thumb Hypoplastic (short) thumb phalanx. hp0009lx5z Hypoplastic thumb phalanges|Short thumb bone|Hypoplastic/small phalanges of the thumb|Short thumb phalanges doelkens 2009-01-29T05:35:50Z HP:0004071|HP:0004069 UMLS:C4021411 human_phenotype owl:Class HP:0001879 biolink:NamedThing Abnormal eosinophil morphology An abnormal count or structure of eosinophils. hp0009lx5z Abnormality of eosinophils Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged. UMLS:C4025738 human_phenotype owl:Class HP:0001911 biolink:NamedThing Abnormal granulocyte morphology Any structural abnormality or abnormal count of granulocytes. hp0009lx5z Abnormality of granulocytes HP:0005438 SNOMEDCT_US:250274006|UMLS:C0427515 human_phenotype owl:Class HP:0009944 biolink:NamedThing Partial duplication of thumb phalanx A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. hp0009lx5z Notching of thumb phalanges|Partial duplication of the thumb bones|Bifid thumb|Partial duplication of the phalanges of the thumb doelkens 2009-05-15T12:51:57Z HP:0001244|HP:0004070 UMLS:C4082168 human_phenotype owl:Class HP:0011063 biolink:NamedThing Abnormal incisor morphology An abnormality of morphology of the incisor tooth. hp0009lx5z Abnormality of incisor morphology|Abnormality of shape of incisor peter 2011-03-10T02:06:54Z UMLS:C4023555 owl:Class HP:0000676 biolink:NamedThing Abnormality of the incisor An abnormality of the Incisor tooth. hp0009lx5z HP:0006340 UMLS:C4025833 human_phenotype owl:Class HP:0012441 biolink:NamedThing Sphincter of Oddi dyskinesia Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum. hp0009lx5z Sphincter of Oddi dysfunction The sphincter of Oddi (also known as sphincter of ampulla) is a muscular valve that controls the flow of bile and pancreatic juice through the ampulla of Vater into the second part of the duodenum. Increased tone of the sphincter or disturbance in the coordination of contraction of the biliary ducts prevents normal emptying of the biliary tree. This may result in biliary pain, common bile duct dilation and episodes of pancreatitis. peter 2013-11-23T02:21:59Z UMLS:C0878588|SNOMEDCT_US:430887001|UMLS:C4048750|MSH:D046628 human_phenotype owl:Class HP:0012396 biolink:NamedThing Biliary dyskinesia A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction. hp0009lx5z peter 2013-11-07T07:56:55Z UMLS:C0005416|SNOMEDCT_US:197432008|MSH:D001657 human_phenotype owl:Class HP:0003161 biolink:NamedThing 4-Hydroxyphenylpyruvic aciduria Increased concentration of pyruvic acid in the urine. hp0009lx5z Hydroxyphenylpyruvic aciduria UMLS:C1848678 human_phenotype owl:Class HP:0040156 biolink:NamedThing Elevated urinary carboxylic acid An increased amount of carboxylic acid in the urine. hp0009lx5z HPO:skoehler UMLS:C4022413 owl:Class HP:0430016 biolink:NamedThing Abnormality of tensor veli palatini muscle An abnormality of the tensor veli palatini muscle hp0009lx5z UMLS:C4073198 owl:Class HP:0430014 biolink:NamedThing Abnormality of musculature of soft palate An abnormality of one or more of the five muscles of the soft palate. hp0009lx5z Abnormality of soft palate muscles UMLS:C4073196 owl:Class HP:0006308 biolink:NamedThing Atrophy of alveolar ridges hp0009lx5z Flattening of alveolar processes of jaw|Atrophy of alveolar processes of jaw|Flattening of gum ridges|Alveolar bone loss|Shrinking of gum ridges|Resorption of alveolar ridges|Resorption of alveolar processes of jaw|Atrophy of alveolar margins|Flattening of alveolar ridges|Resorption of alveolar margins|Flattening of alveolar margin|Shrinking of alveolar ridges UMLS:C1855642|UMLS:C4280455|UMLS:C4280454 human_phenotype owl:Class HP:0033120 biolink:NamedThing Nummular eczema A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet hp0009lx5z Discoid eczema|Nummular dermatitis 2020-09-03 12:14:32+00:00 peter owl:Class HP:0000964 biolink:NamedThing Eczema Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. hp0009lx5z Eczema Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. HP:0001481 MSH:D004485|SNOMEDCT_US:281104002|UMLS:C0013595|SNOMEDCT_US:43116000 owl:Class HP:0010138 biolink:NamedThing Absent epiphysis of the distal phalanx of the hallux Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux. hp0009lx5z Absent end part of the outermost bone of the big toe doelkens 2009-05-29T01:22:47Z UMLS:C4024021 human_phenotype owl:Class HP:0006549 biolink:NamedThing Unilateral primary pulmonary dysgenesis hp0009lx5z Primary pulmonary dysgenesis, unilateral UMLS:C4021592 owl:Class HP:0033392 biolink:NamedThing Perivascular pre-capillary pulmonary artery inflammation Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer). hp0009lx5z Perivascular inflammation of pre-capillary pulmonary arteries|Perivascular inflammation of arterioles in the pulmonary circulation 2021-01-06 12:33:56+00:00 peter owl:Class HP:0009645 biolink:NamedThing Osteolytic defect of the distal phalanx of the thumb Dissolution or degeneration of bone tissue of the distal phalanx of the thumb. hp0009lx5z Osteolytic defects of the distal phalanx of the thumb|Osteolytic defects of the outermost bone of the thumb doelkens 2009-01-29T05:19:33Z UMLS:C4021417 human_phenotype owl:Class HP:0009839 biolink:NamedThing Osteolytic defects of the distal phalanges of the hand hp0009lx5z Acroosteolysis of distal phalanges|Acro-osteolysis of distal phalanges|Osteolytic defects of the outermost finger bone of the hand doelkens 2009-03-11T12:10:11Z HP:0001219|HP:0009865 UMLS:C1849547 human_phenotype owl:Class HP:0001106 biolink:NamedThing Periorbital hyperpigmentation Increased pigmentation of the skin in the region surrounding the orbit of the eye. hp0009lx5z Pigmentation around the eyes|Dark circles under the eyes|Dark circles around the eyes|Infraorbital pigmentation|Darkening around the eyes|Periorbital melanosis|Idiopathic cutaneous hyperchromia at the orbital region UMLS:C1844606 human_phenotype owl:Class HP:0003493 biolink:NamedThing Antinuclear antibody positivity The presence of autoantibodies in the serum that react against nuclei or nuclear components. hp0009lx5z Antinuclear antibody positive|Elevated antinuclear antibody|Antinuclear antibodies|Serum antinuclear antibody Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim. SNOMEDCT_US:165850001|UMLS:C0151480 human_phenotype owl:Class HP:0012014 biolink:NamedThing EEG with central focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the central region. hp0009lx5z hecht 2012-07-20T12:01:29Z UMLS:C4023077 human_phenotype owl:Class HP:0033718 biolink:NamedThing EEG with central epileptiform discharges Focal epileptiform EEG discharges recorded in the central region. hp0009lx5z 2021-04-07 12:58:21+00:00 peter owl:Class HP:0033475 biolink:NamedThing Limited shoulder abduction Decreased ability to move the arm away from the midline of the body. hp0009lx5z 2021-01-09 22:47:42+00:00 peter owl:Class HP:0006467 biolink:NamedThing Limited shoulder movement A limitation of the range of movement of the shoulder joint. hp0009lx5z Limited shoulder movement UMLS:C1851313 owl:Class HP:0004938 biolink:NamedThing Tortuous cerebral arteries Excessive bending, twisting, and winding of a cerebral artery. hp0009lx5z Twisted cerebral arteries UMLS:C1836791 human_phenotype owl:Class HP:0005116 biolink:NamedThing Arterial tortuosity Abnormal tortuous (i.e., twisted) form of arteries. hp0009lx5z peter 2008-03-25T06:39:00Z UMLS:C3279191 owl:Class HP:0003140 biolink:NamedThing T-wave inversion in the right precordial leads hp0009lx5z UMLS:C4025646 human_phenotype owl:Class HP:0010872 biolink:NamedThing T-wave inversion An inversion of the T-wave (which is normally positive). hp0009lx5z EKG: T-wave inversion peter 2010-08-25T03:29:13Z SNOMEDCT_US:59931005|UMLS:C0520888 human_phenotype owl:Class HP:0008362 biolink:NamedThing Aplasia/Hypoplasia of the hallux Absence or underdevelopment of the big toe. hp0009lx5z Absent/small big toe|Aplastic/hypoplastic halluces|Absent/underdeveloped big toe peter 2008-04-04T11:33:00Z HP:0008126|HP:0008118|HP:0004694 UMLS:C1836213 human_phenotype owl:Class HP:0001844 biolink:NamedThing Abnormality of the hallux This term applies for all abnormalities of the big toe, also called hallux. hp0009lx5z Abnormalities of the hallux|Abnormality of the big toe UMLS:C4021773 human_phenotype owl:Class HP:0010384 biolink:NamedThing Broad phalanges of the 5th toe hp0009lx5z Broad bones of the pinkie toe|Broad bones of the little toe|Broad bones of the pinky toe doelkens 2009-07-16T11:52:18Z UMLS:C4023866 human_phenotype owl:Class HP:0007707 biolink:NamedThing Congenital aphakia Absence of the crystalline lens of the eye as a result of a developmental defect. hp0009lx5z Lens agenesis MSH:C537786|UMLS:C1853230 human_phenotype owl:Class HP:0008063 biolink:NamedThing Aplasia/Hypoplasia of the lens Absence or underdevelopment of the lens. hp0009lx5z Absent/underdeveloped lens|Absent/small lens peter 2008-04-02T03:33:00Z UMLS:C4024738 human_phenotype owl:Class HP:0033082 biolink:NamedThing Reduced TSH response to thyrotrophin-releasing hormone stimulation test A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test. hp0009lx5z peter owl:Class HP:0033080 biolink:NamedThing Abnormal TSH response to thyrotrophin-releasing hormone stimulation test Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test. hp0009lx5z Abnormal TSH response to TRH stimulation test peter owl:Class HP:0009751 biolink:NamedThing Aplasia of the pectoralis major muscle Absence of the pectoralis major muscle. hp0009lx5z Absent pectoralis major muscle peter 2009-01-31T05:18:55Z UMLS:C4024213 human_phenotype owl:Class HP:0100854 biolink:NamedThing Aplasia of the musculature Absence of the musculature. hp0009lx5z Absent musculature doelkens 2011-11-30T09:51:08Z UMLS:C4021955 human_phenotype owl:Class HP:0033005 biolink:NamedThing Plantar warts Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). hp0009lx5z peter owl:Class HP:0100872 biolink:NamedThing Abnormality of the plantar skin of foot An abnormality of the plantar part of foot, that is of the soles of the feet. hp0009lx5z Minor feet anomalies doelkens 2011-11-30T11:23:05Z HP:0010613 UMLS:C4020946 human_phenotype owl:Class HP:0030099 biolink:NamedThing Reduced muscle fiber alpha dystroglycan Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. hp0009lx5z Reduced muscle fibre alpha dystroglycan UMLS:C4022646 owl:Class HP:0030112 biolink:NamedThing Abnormal muscle fiber alpha dystroglycan A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. hp0009lx5z Abnormal muscle fibre alpha dystroglycan UMLS:C4022633 owl:Class HP:0025291 biolink:NamedThing Lower-body predominance Applies to an abnormality that affects the legs more than the arms, trunk, head. hp0009lx5z 2016-12-18 16:12:27+00:00 HPO:probinson owl:Class HP:0100119 biolink:NamedThing Small epiphysis of the middle phalanx of the 2nd toe hp0009lx5z Small end part of the middle bone of the 2nd toe doelkens 2010-06-24T10:05:37Z UMLS:C4022302 human_phenotype owl:Class HP:0025394 biolink:NamedThing Cystic pattern on pulmonary HRCT On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. hp0009lx5z 2017-04-22 13:03:59+00:00 HPO:probinson owl:Class HP:0025389 biolink:NamedThing Pulmonary interstitial high-resolution computed tomography abnormality High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. hp0009lx5z Pulmonary interstitiatial HRCT abnormality 2017-04-22 12:46:42+00:00 HPO:probinson owl:Class HP:4000045 biolink:NamedThing Spiral fracture A type of fracture in which the break spirals around the bone. hp0009lx5z 2021-05-02 20:50:42+00:00 robinp owl:Class HP:0009398 biolink:NamedThing Irregular epiphyses of the 4th finger Irregular radiographic opacity of the epiphyses of the 4th finger. hp0009lx5z Irregular end part of the ring finger bones doelkens 2009-01-13T01:59:12Z UMLS:C4024392 human_phenotype owl:Class HP:0005655 biolink:NamedThing Multiple digital exostoses Multiple exostoses originating in the fingers and toes. hp0009lx5z This feature is characteristic of metachondromatosis (MIM:156250). UMLS:C4025162 human_phenotype owl:Class HP:0002762 biolink:NamedThing Multiple exostoses Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. hp0009lx5z UMLS:C0015306|SNOMEDCT_US:254044004|MSH:D005097 human_phenotype owl:Class HP:0000463 biolink:NamedThing Anteverted nares Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). hp0009lx5z Nostrils anteverted|Upturned nasal tips|Upturned nose|Anteverted nostrils|Upturned nares|Upturned nostrils|Upturned nasal tip|Anteverted nose|Nasal tip, upturned The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. HP:0000441|HP:0000427|HP:0000435 UMLS:C1840077|SNOMEDCT_US:708670007 human_phenotype owl:Class HP:0007446 biolink:NamedThing Palmoplantar blistering A type of blistering that affects the skin of the palms of the hands and the soles of the feet. hp0009lx5z UMLS:C4024876 owl:Class HP:0008441 biolink:NamedThing Herniation of intervertebral nuclei The presence of one or more herniated nucleus pulposus of intervertebral disk. hp0009lx5z Herniated disk|Herniated disc|Herniated intervertebral nuclei MSH:D007405|UMLS:C1832597|SNOMEDCT_US:73589001|UMLS:C0021818 human_phenotype owl:Class HP:0005108 biolink:NamedThing Abnormality of the intervertebral disk An abnormality of the intervertebral disk. hp0009lx5z Abnormality of the intervertebral disc Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies. peter 2008-03-25T06:05:00Z UMLS:C4025249 human_phenotype owl:Class HP:0009437 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 3rd finger hp0009lx5z Absent/underdeveloped middle bone of the middle finger|Absent/small middle bone of the middle finger doelkens 2009-01-14T03:41:31Z UMLS:C4024361 human_phenotype owl:Class HP:0031378 biolink:NamedThing Abnormal lymphocyte proliferation Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population. hp0009lx5z 2017-09-02 15:55:37+00:00 peter owl:Class HP:0031409 biolink:NamedThing Abnormal lymphocyte physiology Any anomaly of lymphocyte function. hp0009lx5z 2017-09-04 12:08:45+00:00 peter owl:Class HP:0006598 biolink:NamedThing Irregular ossification at anterior rib ends hp0009lx5z UMLS:C1850083 human_phenotype owl:Class HP:0012306 biolink:NamedThing Abnormal rib ossification An anomaly of the process of rib bone formation. hp0009lx5z Abnormal maturation of rib bones peter 2013-08-10T09:31:03Z UMLS:C4022957 human_phenotype owl:Class HP:0100742 biolink:NamedThing Vascular neoplasm A benign or malignant neoplasm (tumour) originating in the vascular system. hp0009lx5z Blood vessel tumour|Blood vessel tumor doelkens 2011-06-06T06:08:26Z SNOMEDCT_US:115235003|SNOMEDCT_US:126736007|UMLS:C0282607|SNOMEDCT_US:699605009|MSH:D009383|MSH:D019043|UMLS:C0027668|NCIT:C3262 human_phenotype owl:Class HP:0000933 biolink:NamedThing Posterior fossa cyst at the fourth ventricle hp0009lx5z UMLS:C4025816 human_phenotype owl:Class HP:0007109 biolink:NamedThing Periventricular cysts hp0009lx5z UMLS:C1839858 human_phenotype owl:Class HP:0500036 biolink:NamedThing Nasolacrimal sac papilloma Benign tumor of the nasolacrimal sac. hp0009lx5z 2018-01-31 16:58:13+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0500035 biolink:NamedThing Nasolacrimal sac granuloma A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac. hp0009lx5z 2018-01-31 16:48:25+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0032208 biolink:NamedThing Increased urinary type 1 collagen N-terminal telopeptide level An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours. hp0009lx5z Increased urine NTx level|Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine 2019-01-20 16:17:52+00:00 Telopeptides are tiny protein particles found particularly in type I collagen that include 15-20 amino acids. Telopeptides bound to the ends of these amino acids are removed from the body through the urine as a result of collagen metabolism. During resorption, amino and carboxyl terminal fragments, called telopeptides, are bound to collagens with cross links and can be released into the circulation and excreted in the urine. Some recent studies have demonstrated that the type 1 collagen N-terminal telopeptide (NTx) level is more specific to bone tissue than any other resorption markers. peter owl:Class HP:0033384 biolink:NamedThing Elevated urinary collagen degradation products Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. hp0009lx5z 2021-01-02 13:26:26+00:00 Bone undergoes continuous remodeling because of the activity of osteoblasts (bone formation) and osteoclasts (bone resorption). Collagen degradation products may be considered as biochemical markers of bone resorption. peter owl:Class HP:0001162 biolink:NamedThing Postaxial hand polydactyly Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). hp0009lx5z Extra pinkie finger|Extra pinky finger|Postaxial polydactyly of fingers|Postaxial polydactyly of hands|Extra little finger|Postaxial polydactyly of hand|Polydactyly affecting the 5th finger HP:0009984|HP:0004698|HP:0005763 SNOMEDCT_US:205131007|UMLS:C0431904 human_phenotype owl:Class HP:0001161 biolink:NamedThing Hand polydactyly A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. hp0009lx5z Supernumerary finger|Extra finger|Polydactyly of the hand|Finger polydactyly MEDDRA:10036064|SNOMEDCT_US:81793007|UMLS:C0158733 human_phenotype owl:Class HP:0040030 biolink:NamedThing Chorioretinal hypopigmentation hp0009lx5z HPO:skoehler UMLS:C4022483 owl:Class HP:0007661 biolink:NamedThing Abnormality of chorioretinal pigmentation hp0009lx5z UMLS:C4024819 human_phenotype owl:Class HP:0010575 biolink:NamedThing Dysplasia of the femoral head The presence of developmental dysplasia of the femoral head. hp0009lx5z Abnormality of femoral head development|Dysplastic femoral head sandra1 2009-10-21T01:30:40Z UMLS:C4280377|UMLS:C4021251 human_phenotype owl:Class HP:0003368 biolink:NamedThing Abnormal femoral head morphology An abnormality of the femoral head. hp0009lx5z Abnormality of the femoral head|Abnormal head of thigh bone UMLS:C4025620 human_phenotype owl:Class HP:0003730 biolink:NamedThing EMG: myotonic runs Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). hp0009lx5z EMG: spontaneous, repetitive electrical activity This is a characteristic abnormality seen in the myotonias and periodic paralyses. UMLS:C4020837|UMLS:C4025576 owl:Class HP:0012799 biolink:NamedThing Unilateral facial palsy One-sided weakness of the muscles of facial expression and eye closure. hp0009lx5z Unilateral facial weakness|Paralysis of one side of the face|Facial droop|Unilateral facial paralysis|Weakness of one side of the face|Unilateral facial muscle paralysis|Unilateral facial muscle weakness hecht 2014-05-25T10:35:53Z UMLS:C0239516|UMLS:C4022719 owl:Class HP:0010628 biolink:NamedThing Facial palsy Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. hp0009lx5z Facial nerve paralysis|Cranial nerve VII palsy|Bell's palsy|Facial palsy, unilateral or bilateral|VII th cranial nerve palsy|Facial nerve palsy|Facial muscle weakness of muscles innervated by CN VII|Seventh cranial nerve palsy Several conditions can cause a facial paralysis, e.g. brain tumor, stroke, and Lyme disease. However, if no specific cause can be identified, the condition is known as Bell's palsy. Named after Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve) and is the most common cause of acute facial nerve paralysis. peter 2009-12-06T05:08:30Z HP:0000344|HP:0007212|HP:0200004|HP:0002259|HP:0000353|HP:0000296|HP:0002517|HP:0002008|HP:0000302|HP:0004670 MSH:D020330|SNOMEDCT_US:193093009|MSH:D005158|UMLS:C0376175|UMLS:C1858719|UMLS:C0427055|SNOMEDCT_US:95666008 human_phenotype owl:Class HP:0030175 biolink:NamedThing Myelin tomacula The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage). hp0009lx5z Tomacula Several mechanisms that may lead to the formation of a tomaculum-for example, hypermyelination, redundant loop formation, the presence of a second mesaxon, transnodal myelination, two Schwann cells forming one myelin sheath, and disruption of the myelin sheath. Sural nerve biopsies typically show regions of myelin thickening as well as features of demyelination and remyelination. UMLS:C4020904 owl:Class HP:0030173 biolink:NamedThing Peripheral hypermyelination Increased amount of peripheral myelination. hp0009lx5z Increased peripheral myelination UMLS:C4021049 owl:Class HP:0002218 biolink:NamedThing Silver-gray hair Hypopigmented hair that appears silver-gray. hp0009lx5z Silver-gray hair colour|Silver-gray hair|Silver-gray hair color|Silvery-gray hair UMLS:C1836576 human_phenotype owl:Class HP:0011358 biolink:NamedThing Generalized hypopigmentation of hair Reduced pigmentation of hair diffusely. hp0009lx5z Generalised hypopigmentation of hair peter 2012-03-01T03:32:59Z UMLS:C4023400 human_phenotype owl:Class HP:0010153 biolink:NamedThing Fragmentation of the epiphysis of the 1st metatarsal hp0009lx5z Fragmentation of the end part of the 1st long bone of foot doelkens 2009-05-29T01:24:17Z UMLS:C4024006 human_phenotype owl:Class HP:0003508 biolink:NamedThing Proportionate short stature A kind of short stature in which different regions of the body are shortened to a comparable extent. hp0009lx5z Short stature, proportionate|Proportionate small stature HP:0003499 UMLS:C0878660 human_phenotype owl:Class HP:0004322 biolink:NamedThing Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). hp0009lx5z Decreased body height|Small stature|Stature below 3rd percentile|Short stature|Height less than 3rd percentile peter 2008-02-27T03:19:00Z HP:0001509|HP:0008888|HP:0003519|HP:0003518|HP:0003501|HP:0008871|HP:0008882|HP:0003512|HP:0008913|HP:0003507 UMLS:C0349588|SNOMEDCT_US:237836003 human_phenotype owl:Class HP:0025429 biolink:NamedThing Abnormal cry Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation. hp0009lx5z 2017-04-23 12:56:52+00:00 HPO:probinson owl:Class HP:0001608 biolink:NamedThing Abnormality of the voice hp0009lx5z Voice abnormality|Abnormality of the voice This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. UMLS:C4021776 human_phenotype owl:Class HP:0030008 biolink:NamedThing Cervical agenesis Congenital absence of the cervix. hp0009lx5z Absent cervix|Cervical aplasia|Aplasia of the cervix UMLS:C0266404|SNOMEDCT_US:37687000 owl:Class HP:0012888 biolink:NamedThing Abnormality of the uterine cervix An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. hp0009lx5z hecht 2014-06-11T09:40:02Z UMLS:C4022694 human_phenotype owl:Class HP:0002446 biolink:NamedThing Astrocytosis Proliferation of astrocytes in the area of a lesion of the central nervous system. hp0009lx5z Increase in astrocyte number UMLS:C3887640|SNOMEDCT_US:81415000|MSH:D005911 human_phenotype owl:Class HP:0100707 biolink:NamedThing Abnormal astrocyte morphology An abnormality of astrocytes. hp0009lx5z Abnormality of the astrocytes Astrocytes represent a class of large neuroglial (macroglial) cells in the central nervous system. doelkens 2011-04-03T02:36:46Z UMLS:C4021991 human_phenotype owl:Class HP:0009836 biolink:NamedThing Broad distal phalanx of finger Abnormally wide (broad) distal phalanx of finger. hp0009lx5z Broad distal phalanx|Spatulate terminal phalanges|Broad outermost finger bone|Broad distal phalanges|Broad distal phalanges of the hand|Broad terminal phalanges|Broad, square ends of distal phalanges This term should be reserved for a radiological finding of increased width of the distal finger phalanx (bone). The term Broad fingertip should be used to denote a clinical impression of increased side to side width of the distance part of the finger. doelkens 2009-03-11T12:10:11Z HP:0006113|HP:0006241|HP:0009859|HP:0003120|HP:0006197 UMLS:C1850630 owl:Class HP:0003839 biolink:NamedThing Abnormality of upper limb epiphysis morphology hp0009lx5z Abnormality involving the epiphyses of the upper limbs|Epihyseal plate abnormality of the upper limbs|Abnormal shape of end part of upper limb long bones HP:0003845 UMLS:C4021722 human_phenotype owl:Class HP:0004047 biolink:NamedThing Wide ulnar metaphysis Increase in width (breadth) of the ulnar metaphysis. hp0009lx5z Broad ulnar metaphysis UMLS:C4021687 human_phenotype owl:Class HP:0004039 biolink:NamedThing Abnormality of ulnar metaphysis hp0009lx5z UMLS:C4025424 human_phenotype owl:Class HP:0003895 biolink:NamedThing Flattened humeral epiphyses hp0009lx5z Flattened end part of long bone in upper arm UMLS:C4025525 human_phenotype owl:Class HP:0011230 biolink:NamedThing Laterally extended eyebrow An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location. hp0009lx5z Increased lateral length of eyebrow|Laterally extended eyebrows|Laterally elongated eyebrow The degree of extension beyond the obital rim that is considered abnormal has not been established. peter 2011-12-14T08:27:22Z UMLS:C4023451 human_phenotype owl:Class HP:0008770 biolink:NamedThing Obsessive-compulsive trait The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. hp0009lx5z Obsessive-compulsive trait|Obsessive-compulsive traits HP:0008761 UMLS:C1834433 human_phenotype owl:Class HP:0000722 biolink:NamedThing Obsessive-compulsive behavior Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV). hp0009lx5z Obsessive-compulsive behavior|Obsessive-compulsive disorder|Obsessive compulsive disorder|OCD|Obsessive compulsive behavior|Obsessive compulsive behaviour|Obsessive-compulsive behaviour SNOMEDCT_US:12479006|MSH:D009771|UMLS:C0028768|SNOMEDCT_US:191736004|UMLS:C0600104|MSH:D003192 human_phenotype owl:Class HP:0030724 biolink:NamedThing Central nervous system cyst A fluid-filled sac (cyst) located within the central nervous system. hp0009lx5z CNS cyst|Cyst of the central nervous system Cysts of CNS are usually maldevelopmental in nature, but in some cases are acquired. The recognition of these cysts radiologically and confirmation by pathology is essential for prognostic purposes. MSH:D020863|UMLS:C0349606|SNOMEDCT_US:277333006 owl:Class HP:0005619 biolink:NamedThing Thoracolumbar kyphosis Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. hp0009lx5z Thoracolumbar gibbus|Thoracolumbar gibbus deformity HP:0003439 UMLS:C1855418 human_phenotype owl:Class HP:0100712 biolink:NamedThing Abnormal lumbar spine morphology Any structural abnormality of the lumbar vertebral column. hp0009lx5z Abnormality of the lumbar spine doelkens 2011-05-05T09:37:33Z UMLS:C4021988 owl:Class HP:0410249 biolink:NamedThing Increased anti-alpha-gal IgE antibody level Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat. hp0009lx5z Increased anti-galactose-alpha-1, 3 galactose IgE antibody level 2018-10-15 17:54:02+00:00 owl:Class HP:0032336 biolink:NamedThing Increased circulating specific IgE antibody hp0009lx5z 2019-02-18 14:13:53+00:00 peter owl:Class HP:0007963 biolink:NamedThing Pattern dystrophy of the retina A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation). hp0009lx5z UMLS:C4024762 human_phenotype owl:Class HP:0000556 biolink:NamedThing Retinal dystrophy Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. hp0009lx5z Breakdown of light-sensitive cells in back of eye HP:0007982|HP:0007910|HP:0007974|HP:0007736 MSH:D058499|UMLS:C0854723|SNOMEDCT_US:314407005 owl:Class HP:0009166 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 5th finger Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger. hp0009lx5z Fragmentation of end part of the outermost bone of pinky finger|Fragmentation of end part of the outermost bone of little finger|Fragmentation of end part of the outermost bone of pinkie finger peter 2008-12-29T02:14:33Z UMLS:C4024562 human_phenotype owl:Class HP:0010712 biolink:NamedThing 1-4 toe syndactyly Syndactyly with fusion of toes one to four. hp0009lx5z Webbed first through fourth toes sdoelken 2010-03-26T05:22:26Z UMLS:C4023725 human_phenotype owl:Class HP:0002853 biolink:NamedThing Increased proportion of HLA DR+ T cells An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation. hp0009lx5z UMLS:C1858974 human_phenotype owl:Class HP:0033565 biolink:NamedThing Anti-epidermal transglutaminase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase. hp0009lx5z Anti-TG3 antibody|Anti-keratinocyte transglutaminase|Anti-eTG antibody positivity|Anti-epidermal transglutaminase (anti-eTG) antibody 2021-01-23 13:00:15+00:00 peter owl:Class HP:0033563 biolink:NamedThing Anti-tissue transglutaminase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase. hp0009lx5z Anti-tTG antibody positivity 2021-01-23 12:45:46+00:00 peter owl:Class HP:0010140 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the hallux hp0009lx5z Cone-shaped end part of the outermost bone of the big toe doelkens 2009-05-29T01:22:47Z UMLS:C4024019 human_phenotype owl:Class HP:0010898 biolink:NamedThing Abnormal circulating sarcosine concentration An deviation from the normal concentration of sarcosine in the blood circulation. hp0009lx5z Sarcosine, which is also known as N-methylglycine, is an intermediate and byproduct in glycine synthesis and degradation. peter 2010-11-30T05:44:10Z UMLS:C4023668 human_phenotype owl:Class HP:0010894 biolink:NamedThing Abnormal circulating serine family amino acid concentration Any deviation from the normal concentration of a serine family amino acid in the blood circulation. hp0009lx5z Abnormality of serine family amino acid metabolism peter 2010-11-30T05:21:41Z UMLS:C4023671 human_phenotype owl:Class HP:0033447 biolink:NamedThing Elevated circulating isovalerylcarnitine concentration Increased concentration of O-isovalerylcarnitine in the blood circulation. hp0009lx5z Elevated circulating O-isovalerylcarnitine concentration 2021-01-09 19:03:03+00:00 peter owl:Class HP:0007063 biolink:NamedThing Aplasia of the inferior half of the cerebellar vermis hp0009lx5z Absent inferior half of the cerebellar vermis UMLS:C1857787 human_phenotype owl:Class HP:0006817 biolink:NamedThing Aplasia/Hypoplasia of the cerebellar vermis Absence or underdevelopment of the vermis of cerebellum. hp0009lx5z Cerebellar vermis aplasia/hypoplasia|Hypo/aplastic vermis|Cerebellar vermis aplasia or hypoplasia HP:0007080|HP:0005690 UMLS:C3280770|UMLS:C1855676 owl:Class HP:0007727 biolink:NamedThing Opacification of the corneal epithelium Lack of transparency of the corneal epithelium. hp0009lx5z Superficial corneal opacities UMLS:C1849198 human_phenotype owl:Class HP:0007957 biolink:NamedThing Corneal opacity A reduction of corneal clarity. hp0009lx5z Scarring or clouding of the cornea of the eye|Reduction of corneal clarity|Corneal opacities|Corneal clouding HP:0008502|HP:0007844|HP:0007883 SNOMEDCT_US:64634000|UMLS:C0010038|SNOMEDCT_US:413921009|UMLS:C0521719|MSH:D003318|SNOMEDCT_US:95735008 human_phenotype owl:Class HP:0031173 biolink:NamedThing Tibial spur A bony projection (spur, osteophyte) originating from the tibia. hp0009lx5z Spurring of tibiae 2017-06-18 20:06:57+00:00 peter owl:Class HP:0009232 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 5th finger Fusion of the proximal phalanx of the 5th finger with another bone. hp0009lx5z Fused innermost bone of pinkie finger|Fused innermost bone of little finger|Fused innermost bone of pinky finger doelkens 2009-01-05T06:11:33Z UMLS:C4024512 human_phenotype owl:Class HP:0004218 biolink:NamedThing Symphalangism of the 5th finger Fusion of two or more bones of the 5th finger. hp0009lx5z Fifth finger symphalangism|Fused little finger bones|Fused pinky finger bones|Fused pinkie finger bones|Symphalagism of the little finger UMLS:C4021676 human_phenotype owl:Class HP:0009948 biolink:NamedThing Duplication of the distal phalanx of the 2nd finger Partial or complete duplication of the distal phalanx of index finger. hp0009lx5z Partial/complete duplication of the distal phalanx of the 2nd finger|Partial/complete duplication of the outermost bone of the index finger doelkens 2009-05-15T01:58:58Z HP:0004144 UMLS:C4021367 human_phenotype owl:Class HP:0002788 biolink:NamedThing Recurrent upper respiratory tract infections An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). hp0009lx5z Recurrent URI|Upper respiratory tract infections, recurrent|Frequent upper respiratory tract infections|Frequent upper respiratory infections|Recurrent upper respiratory infections|Upper respiratory tract infections|Recurrent upper respiratory and lower respiratory infections|Recurrent upper respiratory infection|Recurrent colds HP:0001740|HP:0002784 UMLS:C0581381|SNOMEDCT_US:195708003 human_phenotype owl:Class HP:0001739 biolink:NamedThing Abnormal nasopharynx morphology A structural anomaly of the nasopharynx. hp0009lx5z Abnormality of the nasopharynx The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. UMLS:C4025750 owl:Class HP:0010419 biolink:NamedThing Symphalangism affecting the distal phalanx of the 2nd toe hp0009lx5z Fused outermost bone of the 2nd toe doelkens 2009-07-16T12:44:41Z UMLS:C4023837 human_phenotype owl:Class HP:0010410 biolink:NamedThing Symphalangism affecting the middle phalanx of the 2nd toe hp0009lx5z Fused middle bone of 2nd toe doelkens 2009-07-16T12:43:52Z UMLS:C4023845 human_phenotype owl:Class HP:0010525 biolink:NamedThing Finger agnosia An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. hp0009lx5z peter 2009-09-20T11:37:33Z MSH:D000377|SNOMEDCT_US:3449007|UMLS:C0234509 human_phenotype owl:Class HP:0410392 biolink:NamedThing Increased proportion of CD8-positive, alpha-beta memory T cells An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp0009lx5z owl:Class HP:0410380 biolink:NamedThing Abnormal proportion of CD8-positive, alpha-beta memory T cells An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp0009lx5z Human CD8+T cells are commonly classified into four subsets based on the surface expression of the leukocyte common antigen isoform CD45RA and the lymph node addressin CCR7. Thereby, naive TN cells (CD45RA+/CCR7+) are separated from central memory TCM (CD45RA-/CCR7+), effector memory TEM (CD45RA-/CCR7-) and TEMRA (CD45RA+/CCR7-) T cells. owl:Class HP:0000613 biolink:NamedThing Photophobia Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. hp0009lx5z Photodysphoria|Extreme sensitivity of the eyes to light|Light hypersensitivity Note that the term photodysphoria is used to describe extreme photophobia. UMLS:C0085636|UMLS:C4020887|MSH:D020795|SNOMEDCT_US:246622003|SNOMEDCT_US:409668002 owl:Class HP:0006712 biolink:NamedThing Aplasia/Hypoplasia of the ribs hp0009lx5z Hypoplastic or missing ribs|Absent/small ribs|Absent/underdeveloped ribs peter 2008-03-29T03:54:00Z HP:0006636 UMLS:C1847363 human_phenotype owl:Class HP:0033853 biolink:NamedThing Abnormal arcuate vein morphology Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). hp0009lx5z 2021-06-02 18:55:40+00:00 peter owl:Class HP:0033852 biolink:NamedThing Abnormal intrarenal vein morphology Abnormal structure of a vein located inside the kidney parenchyma. hp0009lx5z 2021-06-02 18:53:31+00:00 peter owl:Class HP:0000044 biolink:NamedThing Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). hp0009lx5z Low gonadotropins (secondary hypogonadism)|Hypogonadotrophic hypogonadism|Isolated hypogonadotropic hypogonadism HP:0008224|HP:0003335 UMLS:C0271623|MSH:D007006|SNOMEDCT_US:33927004|UMLS:C3489396 human_phenotype owl:Class HP:0000135 biolink:NamedThing Hypogonadism A decreased functionality of the gonad. hp0009lx5z Decreased activity of gonads Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. SNOMEDCT_US:48130008|MSH:D007006|UMLS:C0020619 owl:Class HP:0002641 biolink:NamedThing Peripheral thrombosis hp0009lx5z Peripheral blood clot UMLS:C1849749 human_phenotype owl:Class HP:0000602 biolink:NamedThing Ophthalmoplegia Paralysis of one or more extraocular muscles that are responsible for eye movements. hp0009lx5z Eye muscle paralysis|Paralysis of extraocular eye movement SNOMEDCT_US:16110005|MSH:D009886|UMLS:C0029089 human_phenotype owl:Class HP:0030665 biolink:NamedThing Rubral tremor Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. hp0009lx5z Holmes' tremor Rubral tremor can be observed with midbrain injury and probably results from combined lesions of the superior cerebellar peduncle, substantia nigra, and red nucleus with interruption of the outflow pathway from the cerebellum to the motor thalamus. This tremor is present at rest but tends to be slower (3 to 5 Hz) than typical Parkinson tremor (5 to 7 Hz). It also persists unchanged or even increases with postural changes or goal-directed activity. Phenotips:chum UMLS:C0750940|MSH:D001259 owl:Class HP:0009854 biolink:NamedThing Curved proximal phalanges of the hand hp0009lx5z Curved innermost finger bones of the hand doelkens 2009-03-11T12:16:33Z HP:0009864 UMLS:C4024179 human_phenotype owl:Class HP:0010836 biolink:NamedThing Abnormal circulating copper concentration An abnormal concentration of copper. hp0009lx5z Abnormal copper levels An abnormality in the concentration of copper, which normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins. peter 2010-07-10T07:39:09Z UMLS:C4023689|UMLS:C4020766 human_phenotype owl:Class HP:0011030 biolink:NamedThing Abnormal blood transition element cation concentration An abnormality of the homeostasis (concentration) of transition element cation. hp0009lx5z Abnormality of transition element cation homeostasis peter 2011-03-04T07:59:31Z UMLS:C4023584 human_phenotype owl:Class HP:0008711 biolink:NamedThing Benign prostatic hyperplasia The presence of non-malignant hyperplasia of the prostate. hp0009lx5z Benign prostatic hypertrophy MSH:D011470|UMLS:C1704272|SNOMEDCT_US:266569009|UMLS:C0005001 human_phenotype owl:Class HP:0008775 biolink:NamedThing Abnormal prostate morphology An abnormality of the prostate. hp0009lx5z Abnormality of the prostate peter 2008-04-04T06:01:00Z UMLS:C0747987 human_phenotype owl:Class HP:0025059 biolink:NamedThing Splenic abscess A circumscribed area of pus or necrotic debris in the parenchyma of the spleen. hp0009lx5z 2016-09-26 09:11:25+00:00 Splenic abscesses generally occur in patients with neoplasia, immunodeficiency, trauma, metastatic infection, splenic infarct or diabetes. HPO:probinson owl:Class HP:0025408 biolink:NamedThing Abnormal spleen morphology Any anomaly of the structure of the spleen. hp0009lx5z Splenic lesion 2017-04-23 10:55:52+00:00 HPO:probinson owl:Class HP:0012005 biolink:NamedThing Deja vu aura A subjective feeling that an experience which is occurring for the first time has been experienced before. hp0009lx5z Deja vu hecht 2012-07-20T11:54:16Z MSH:D003690|SNOMEDCT_US:313005|UMLS:C0011194 owl:Class HP:0012004 biolink:NamedThing Focal cognitive seizure with deja vu/jamais vu A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. hp0009lx5z Mnemonic aura|Mnemonic auras See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. hecht 2012-07-20T11:53:39Z HP:0032697 UMLS:C4023085 owl:Class HP:0011748 biolink:NamedThing Adrenocorticotropic hormone deficiency A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. hp0009lx5z ACTH deficiency|Corticotropin deficiency peter 2012-04-22T11:27:04Z MSH:C535668|SNOMEDCT_US:237692001|UMLS:C0342388 human_phenotype owl:Class HP:0010134 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the hallux hp0009lx5z doelkens 2009-05-29T01:22:23Z UMLS:C4024025 human_phenotype owl:Class HP:0010120 biolink:NamedThing Pseudoepiphyses of the hallux hp0009lx5z doelkens 2009-05-29T01:16:38Z UMLS:C4024039 human_phenotype owl:Class HP:0500056 biolink:NamedThing Retinopathy of prematurity stage 5 Funnel detachment from the retina with generally traction in all four quadrants. hp0009lx5z ROP stage 5 2018-02-19 19:11:28+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0500049 biolink:NamedThing Retinopathy of prematurity An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. hp0009lx5z 2018-02-19 18:14:43+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0032295 biolink:NamedThing Monoclonal elevation of IgG lambda chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain. hp0009lx5z 2019-02-12 22:43:13+00:00 peter owl:Class HP:0032292 biolink:NamedThing Monoclonal elevation of IgG light chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain. hp0009lx5z 2019-02-12 22:41:08+00:00 Each monomeric IgG antibody consists of four chains: two heavy chains, providing class specificity, and two light chains, kappa or lambda. peter owl:Class HP:0010078 biolink:NamedThing Bullet-shaped distal phalanx of the hallux An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped outermost bone of big toe doelkens 2009-05-29T12:16:28Z UMLS:C4024067 human_phenotype owl:Class HP:0010187 biolink:NamedThing Bullet-shaped distal toe phalanx An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped outermost bone of the toe|Bullet-shaped distal phalanges of the toes doelkens 2009-05-29T01:52:41Z UMLS:C4021325 human_phenotype owl:Class HP:0500143 biolink:NamedThing Hypoleucinemia Decreased amount of leucine in the blood. hp0009lx5z Decreased blood concentration of leucine|Low blood leucine levels 2018-10-04 13:17:00+00:00 owl:Class HP:0004357 biolink:NamedThing Abnormal circulating leucine concentration Any deviation from the normal circulation of leucine in the blood circulation. hp0009lx5z peter 2008-03-17T03:02:00Z UMLS:C4025341 human_phenotype owl:Class HP:0009180 biolink:NamedThing Ulnar deviation of the 5th finger Displacement of the 5th finger towards the ulnar side. hp0009lx5z peter 2008-12-29T03:30:05Z UMLS:C4024553 human_phenotype owl:Class HP:0009465 biolink:NamedThing Ulnar deviation of finger Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. hp0009lx5z Finger bends toward pinky|Ulnar Drift doelkens 2009-01-15T09:39:43Z HP:0001200|HP:0004096 SNOMEDCT_US:367510009|UMLS:C0231679|SNOMEDCT_US:276662009 human_phenotype owl:Class HP:0003865 biolink:NamedThing Bowed humerus A bending or abnormal curvature of the humerus. hp0009lx5z Bowing of the humerus|Bowed long bone in upper arm|Humeral bowing UMLS:C1859460 human_phenotype owl:Class HP:0006488 biolink:NamedThing Bowing of the arm A bending or abnormal curvature affecting a long bone of the arm. hp0009lx5z Bending of the arm|Bowing of the arm peter 2008-03-28T05:57:00Z UMLS:C0426863 human_phenotype owl:Class HP:0030525 biolink:NamedThing Moderate constriction of peripheral visual field Peripheral visual field constriction with 20-49 degrees binocular visual field preserved. hp0009lx5z Moderate peripheral visual field loss HP:0030524|HP:0030523 UMLS:C4073002 owl:Class HP:0001133 biolink:NamedThing Constriction of peripheral visual field An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. hp0009lx5z Constricted visual fields|Limited peripheral vision|Constricted visual field|Concentric narrowing of visual field|Visual field constriction HP:0007887|HP:0007981 UMLS:C0235095|SNOMEDCT_US:1151008|SNOMEDCT_US:267628004 human_phenotype owl:Class HP:0010448 biolink:NamedThing Colonic atresia A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon. hp0009lx5z Atresia of the large intestine|Large intestinal atresia peter 2009-09-14T10:23:09Z SNOMEDCT_US:37054000|MSH:C562562|UMLS:C0266190 human_phenotype owl:Class HP:0011100 biolink:NamedThing Intestinal atresia An abnormal closure, or atresia of the tubular structure of the intestine. hp0009lx5z Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen. peter 2011-06-04T09:16:25Z UMLS:C0021828|MSH:D007409 human_phenotype owl:Class HP:0006711 biolink:NamedThing Aplasia/Hypoplasia involving bones of the thorax hp0009lx5z Absent/underdeveloped thorax bone|Absent/small outermost thorax bone peter 2008-03-29T03:53:00Z UMLS:C4024992 human_phenotype owl:Class HP:0009122 biolink:NamedThing Aplasia/hypoplasia affecting bones of the axial skeleton Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. hp0009lx5z peter 2008-04-05T11:29:00Z UMLS:C4024585 human_phenotype owl:Class HP:0011805 biolink:NamedThing Abnormal skeletal muscle morphology A structural abnormality of a skeletal muscle. hp0009lx5z Abnormality of muscle morphology|Issue with muscle structure|Abnormally shaped muscle|Abnormal muscle morphology peter 2012-04-25T02:00:34Z HP:0003735 UMLS:C4023181 human_phenotype owl:Class HP:0003855 biolink:NamedThing Spurred metaphyses of the upper limbs hp0009lx5z Spurred wide portion of upper limb bone UMLS:C4025550 human_phenotype owl:Class HP:0005054 biolink:NamedThing Metaphyseal spurs Bony outgrowths that extend laterally from the margin of the metaphysis. hp0009lx5z HP:0005088 UMLS:C1832988 human_phenotype owl:Class HP:3000012 biolink:NamedThing Abnormality of palatopharyngeus muscle An abnormality of a palatopharyngeus muscle. hp0009lx5z vasilevs 2015-02-26T03:56:09Z UMLS:C4073221 human_phenotype owl:Class HP:0430015 biolink:NamedThing Abnormal morphology of musculature of pharynx An abnormality of any of the muscles of the pharynx. hp0009lx5z Abnormality of muscles of the pharynx|Abnormality of musculature of pharynx|Abnormality of pharynx musculature|Abnormality of pharyngeal musculature UMLS:C4073197 owl:Class HP:0002923 biolink:NamedThing Rheumatoid factor positive The presence in the serum of an autoantibody directed against the Fc portion of IgG. hp0009lx5z SNOMEDCT_US:165839004|UMLS:C0151379 human_phenotype owl:Class HP:0032004 biolink:NamedThing Pruritus vulvae A sensation of itching in the vulvar region. hp0009lx5z 2018-07-15 22:20:09+00:00 peter owl:Class HP:0000989 biolink:NamedThing Pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. hp0009lx5z Itching|Skin itching|Itchy skin|pruritis SNOMEDCT_US:424492005|MSH:D011537|SNOMEDCT_US:418290006|UMLS:C0033774|SNOMEDCT_US:418363000|SNOMEDCT_US:279333002 human_phenotype owl:Class HP:0011153 biolink:NamedThing Focal motor seizure A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. hp0009lx5z Localised motor seizures|Segmental motor seizure|Partial motor seizure|Focal motor seizures|Localized motor seizure|Localized motor seizures|Localised motor seizure|Partial motor seizures A motor onset seizure involves motor activity (movement) and may be due to either an increase or decrease in contraction in a muscle or group of muscles. Depending on the muscle groups involved and the way they are affected, the movement features of a motor onset seizure may be simple or more complex. peter 2011-10-18T02:33:17Z UMLS:C0016399|SNOMEDCT_US:128612007|MSH:D020938|SNOMEDCT_US:82401000 human_phenotype owl:Class HP:0012827 biolink:NamedThing Borderline Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean. hp0009lx5z Borderline PATO:0000394, mild. peter 2014-06-06T06:52:16Z UMLS:C0205189 human_phenotype owl:Class HP:0012824 biolink:NamedThing Severity The intensity or degree of a manifestation. hp0009lx5z Intensity Synonymous with PATO:0000049, intensity. peter 2014-06-06T06:39:22Z UMLS:C0522510|SNOMEDCT_US:103370009 human_phenotype owl:Class HP:0030962 biolink:NamedThing Abnormal morphology of the great vessels A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. hp0009lx5z 2017-04-18 13:00:44+00:00 robinp owl:Class HP:0003828 biolink:NamedThing Variable expressivity A variable severity of phenotypic features. hp0009lx5z Variable severity|Highly variable severity This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. HP:0003814|HP:0003825 UMLS:C1861403|UMLS:C1866862 human_phenotype owl:Class HP:0003812 biolink:NamedThing Phenotypic variability A variability of phenotypic features. hp0009lx5z Highly variable phenotype|Clinical heterogeneity|Variable phenotypic severity|Highly variable phenotype, even within families|Highly variable clinical phenotype|Variable phenotype|Highly variable phenotype and severity This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. HP:0003815|HP:0003822|HP:0003821|HP:0003813 UMLS:C1850667|UMLS:C1839039|UMLS:C1837514|UMLS:C1866210 human_phenotype owl:Class HP:0031603 biolink:NamedThing Impaired nasal mucociliary clearance An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes. hp0009lx5z Abnormal saccharine test 2017-10-22 12:44:48+00:00 peter owl:Class HP:0031602 biolink:NamedThing Abnormal mucociliary clearance An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating. hp0009lx5z Abnormal mucociliary transport 2017-10-22 12:41:51+00:00 peter owl:Class HP:0009540 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 2nd finger Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. hp0009lx5z Camptodactyly of index finger|Camptodactyly of second finger|Camptodactyly of 2nd finger doelkens 2009-01-21T10:11:49Z UMLS:C4021451 human_phenotype owl:Class HP:0009537 biolink:NamedThing Flexion contracture of the 2nd finger Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected. hp0009lx5z Joint contractures of the 2nd finger doelkens 2009-01-21T10:10:27Z UMLS:C4021452 human_phenotype owl:Class HP:0001988 biolink:NamedThing Recurrent hypoglycemia Recurrent episodes of decreased concentration of glucose in the blood. hp0009lx5z Recurrent hypoglycaemia|hypoglycaemia, recurrent|Hypoglycemic episodes|Recurrent low blood sugar levels|hypoglycemia, recurrent|Recurrent hypoglycemic episodes UMLS:C1846288 human_phenotype owl:Class HP:0001943 biolink:NamedThing Hypoglycemia A decreased concentration of glucose in the blood. hp0009lx5z Low blood sugar|Hypoglycaemia HP:0003356 UMLS:C0020615|SNOMEDCT_US:302866003|SNOMEDCT_US:237630007|SNOMEDCT_US:271327008|MSH:D007003 human_phenotype owl:Class HP:0009188 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 5th finger A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2008-12-30T12:28:19Z UMLS:C4024548 human_phenotype owl:Class HP:0009389 biolink:NamedThing Pseudoepiphyses of the 5th finger A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-01-13T01:19:03Z UMLS:C4024400 human_phenotype owl:Class HP:0025511 biolink:NamedThing Nevus sebaceus A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood. hp0009lx5z 2017-05-15 00:51:20+00:00 HPO:probinson owl:Class HP:0025312 biolink:NamedThing Esophoria A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. hp0009lx5z 2016-12-21 01:43:27+00:00 HPO:probinson owl:Class HP:0020045 biolink:NamedThing Esodeviation A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. hp0009lx5z Convergent strabismus 2017-12-20 17:20:06+00:00 robinp owl:Class HP:0000996 biolink:NamedThing Facial capillary hemangioma Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. hp0009lx5z UMLS:C1858545 human_phenotype owl:Class HP:0040221 biolink:NamedThing Hypoplasia of the dental root hp0009lx5z UMLS:C4280722 owl:Class HP:0040220 biolink:NamedThing Abnormal size of the dental root hp0009lx5z UMLS:C4280723 owl:Class HP:0009385 biolink:NamedThing Enlarged epiphyses of the 5th finger Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the little finger bones|Enlarged end part of the pinky finger bones|Enlarged end part of the pinkie finger bones doelkens 2009-01-13T01:19:03Z UMLS:C4024404 human_phenotype owl:Class HP:0010231 biolink:NamedThing Enlarged epiphyses of the phalanges of the hand Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. hp0009lx5z Enlarged end part of finger bones|Enlarged epiphyses of the fingers|Enlarged phalangeal epiphyses doelkens 2009-07-06T03:31:52Z HP:0006023|HP:0009362 UMLS:C1865036 human_phenotype owl:Class HP:0033907 biolink:NamedThing Renal arteriole intima/media arteriolosclerosis Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. hp0009lx5z 2021-06-23 22:52:55+00:00 peter owl:Class HP:0100382 biolink:NamedThing Aplasia of the middle phalanx of the 4th toe hp0009lx5z Absent middle bone of 4th toe UMLS:C4022111 human_phenotype owl:Class HP:0100373 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 4th toe hp0009lx5z Absent/small middle bone of the 4th toe|Absent/underdeveloped middle bone of the 4th toe UMLS:C4022118 human_phenotype owl:Class HP:0006426 biolink:NamedThing Rudimentary to absent tibiae hp0009lx5z UMLS:C1968943 human_phenotype owl:Class HP:0005995 biolink:NamedThing Decreased adipose tissue around neck Reduced amount of adipose tissue in the region of the neck. hp0009lx5z Loss of adipose tissue around the neck|Loss of fat around neck UMLS:C1837763 human_phenotype owl:Class HP:0003758 biolink:NamedThing Reduced subcutaneous adipose tissue A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. hp0009lx5z Scanty adipose tissue|Decreased subcutaneous adipose tissue|Reduced fat tissue below the skin|Decreased subcutaneous fat|Reduced subcutaneous fat HP:0007409|HP:0001002 SNOMEDCT_US:248316006|UMLS:C1857657|UMLS:C0424631 human_phenotype owl:Class HP:0011666 biolink:NamedThing Absent right superior vena cava Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium. hp0009lx5z The superior vena cava is formed by the left and right brachiocephalic (innominate) veins, which receive blood from the arms, head and neck. peter 2012-04-09T11:43:46Z SNOMEDCT_US:253308005|UMLS:C0344656 owl:Class HP:0005301 biolink:NamedThing Persistent left superior vena cava A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. hp0009lx5z PLSVC SNOMEDCT_US:77978002|UMLS:C0265931 owl:Class HP:0004288 biolink:NamedThing Pseudoepiphyses of hand bones hp0009lx5z UMLS:C4025368 human_phenotype owl:Class HP:0010199 biolink:NamedThing Patchy sclerosis of middle toe phalanx Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Patchy sclerosis of the middle phalanges of the toes|Uneven increase in bone density in middle toe bone doelkens 2009-05-29T01:53:35Z UMLS:C4021319 human_phenotype owl:Class HP:0010178 biolink:NamedThing Patchy sclerosis of toe phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the foot. hp0009lx5z Patchy sclerosis of the phalanges of the toes|Uneven increase in bone density in toe bone doelkens 2009-05-29T01:39:26Z UMLS:C4021329 human_phenotype owl:Class HP:0033489 biolink:NamedThing Glomerular endocapillary neutrophil hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. hp0009lx5z 2021-01-10 12:57:48+00:00 peter owl:Class HP:0100061 biolink:NamedThing Ivory epiphyses of the 3rd toe Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. hp0009lx5z Increased bone density of end part of the 3rd toe bone doelkens 2010-06-24T09:58:55Z UMLS:C4022360 human_phenotype owl:Class HP:0100935 biolink:NamedThing Sclerosis of the middle phalanx of the 2nd toe hp0009lx5z Increased bone density in the middle bone of the 2nd toe UMLS:C4021923 human_phenotype owl:Class HP:0040277 biolink:NamedThing Neoplasm of the pituitary gland hp0009lx5z NCIT:C3262 owl:Class HP:0100568 biolink:NamedThing Neoplasm of the endocrine system A tumor (abnormal growth of tissue) of the endocrine system. hp0009lx5z Endocrine neoplasia doelkens 2010-12-21T04:55:15Z NCIT:C3262|SNOMEDCT_US:387927001|SNOMEDCT_US:387922007|UMLS:C0014132|MSH:D004701 owl:Class HP:0011549 biolink:NamedThing Univentricular heart with absent left sided atrioventricular connection hp0009lx5z Univentricular heart with absent left sided atrioventricular connexion peter 2012-04-07T11:31:18Z UMLS:C4023305 human_phenotype owl:Class HP:0011547 biolink:NamedThing Absent left sided atrioventricular connection A defect where there is no connection between the left atrium and left ventricle. hp0009lx5z Absent left sided atrioventricular connexion peter 2012-04-07T11:30:16Z UMLS:C0344629|SNOMEDCT_US:253290005 human_phenotype owl:Class HP:0031721 biolink:NamedThing Sensory exotropia A type of divergent strabismus (exotropia) that develops in a poorly seeing eye. hp0009lx5z Secondary exotropia 2018-01-13 14:03:40+00:00 peter owl:Class HP:0000577 biolink:NamedThing Exotropia A form of strabismus with one or both eyes deviated outward. hp0009lx5z Outward facing eye ball HP:0008033 SNOMEDCT_US:399054005|UMLS:C0015310|MSH:D005099|SNOMEDCT_US:399252000 human_phenotype owl:Class HP:0032457 biolink:NamedThing 2-3-layered lissencephaly Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity. hp0009lx5z 2019-03-08 11:53:39+00:00 peter owl:Class HP:0032318 biolink:NamedThing Family history of heart disease A close blood relative had heart disease. hp0009lx5z 2019-02-14 11:45:48+00:00 peter owl:Class HP:0004230 biolink:NamedThing Subluxation of the proximal interphalangeal joint of the little finger A partial dislocation of the proximal interphalangeal joint of the little finger. hp0009lx5z Partially dislocated innermost hinge joint of pinky finger|Partially dislocated innermost hinge joint of pinkie finger|Partially dislocated innermost hinge joint of little finger UMLS:C4025404 human_phenotype owl:Class HP:0012176 biolink:NamedThing Abnormal natural killer cell morphology An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. hp0009lx5z Abnormality of natural killer cells|Abnormal NK cells peter 2013-02-23T10:02:16Z UMLS:C4021098 human_phenotype owl:Class HP:0004332 biolink:NamedThing Abnormal lymphocyte morphology An abnormality of lymphocytes. hp0009lx5z Abnormal lymphocytes|Abnormality of cells of the lymphoid lineage A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage. peter 2008-02-28T06:46:00Z HP:0012140|HP:0001887 UMLS:C0427546|SNOMEDCT_US:250284007 human_phenotype owl:Class HP:0003191 biolink:NamedThing Cleft ala nasi The presence of a notch in the margin of the ala nasi. hp0009lx5z Cleft nasal alae|Ala nasi, cleft|Cleft nostril|Alar clefts|Nostril coloboma|Notched nasal alae The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity. HP:0004412 UMLS:C1844537 human_phenotype owl:Class HP:0000429 biolink:NamedThing Abnormality of the nasal alae An abnormality of the Ala of nose. hp0009lx5z Abnormality of the nasal ala|Deformity of the nasal alar cartilage|Malformation of the nasal alar cartilage|Abnormality of the nasal alar cartilage|Malformation of the nasal ala|Deformity of the nasal ala The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris. UMLS:C4280632|UMLS:C2227020|UMLS:C4021804|UMLS:C4280631 human_phenotype owl:Class HP:0001153 biolink:NamedThing Septate vagina The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. hp0009lx5z Double vagina UMLS:C0266411|SNOMEDCT_US:47054003 human_phenotype owl:Class HP:0000142 biolink:NamedThing Abnormal vagina morphology Any structural abnormality of the vagina. hp0009lx5z Vaginal malformation HP:0008650 UMLS:C1856023 human_phenotype owl:Class HP:0100867 biolink:NamedThing Duodenal stenosis The narrowing or partial blockage of a portion of the duodenum. hp0009lx5z Duodenal stenosis/atresia doelkens 2011-11-30T11:13:27Z HP:0010449|HP:0005205 UMLS:C0238093|SNOMEDCT_US:73120006|MSH:C535720|MEDDRA:10050094|UMLS:C1860791 human_phenotype owl:Class HP:0002246 biolink:NamedThing Abnormal duodenum morphology An abnormality of the duodenum, i.e., the first section of the small intestine. hp0009lx5z Abnormality of the duodenum UMLS:C4025716 owl:Class HP:0010645 biolink:NamedThing Aplasia of the distal phalanges of the toes Absence of the distal phalanges of the toes. hp0009lx5z Absent outermost bone of the toes peter 2010-02-17T02:41:47Z UMLS:C4023761 human_phenotype owl:Class HP:0010185 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanges of the toes Absence or underdevelopment of the distal phalanges of the toes. hp0009lx5z Absent/small outermost bones of toe|Absent/hypoplastic terminal phalanges of toes|Hypoplasia/agenesis of distal phalanges of toes|Absent/underdeveloped outermost bones of toe doelkens 2009-05-29T01:52:41Z HP:0005818|HP:0005735 UMLS:C4021326|UMLS:C4020773 human_phenotype owl:Class HP:0005224 biolink:NamedThing Rectal abscess A collection of pus in the area of the rectum. hp0009lx5z Perirectal abscess HP:0002567 SNOMEDCT_US:197166005|SNOMEDCT_US:91669008|UMLS:C0267566|UMLS:C0149770 owl:Class HP:0002034 biolink:NamedThing Abnormal rectum morphology An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. hp0009lx5z Abnormality of the rectum|Anomaly of the rectum SNOMEDCT_US:86993003|UMLS:C0266210 owl:Class HP:0031133 biolink:NamedThing Increased annexin V binding to platelet phosphatidylserine Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. hp0009lx5z 2017-06-10 12:54:03+00:00 peter owl:Class HP:0031132 biolink:NamedThing Impaired annexin V binding to platelet phosphatidylserine Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. hp0009lx5z 2017-06-10 12:39:22+00:00 peter owl:Class HP:0004283 biolink:NamedThing Narrow palm For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. hp0009lx5z Narrow palm|Narrow hands|Narrow hand Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces "narrow hands" as that term may leave the impression that it includes the thumb, which it does not. UMLS:C1857632 human_phenotype owl:Class HP:0100871 biolink:NamedThing Abnormality of the palm An abnormality of the palm, that is, of the front of the hand. hp0009lx5z Abnormality of the palm doelkens 2011-11-30T11:21:16Z UMLS:C4021948 human_phenotype owl:Class HP:0006135 biolink:NamedThing Decreased finger mobility hp0009lx5z Decreased finger movement|Decreased finger mobility UMLS:C1862133 human_phenotype owl:Class HP:0030500 biolink:NamedThing Yellow/white lesions of the macula hp0009lx5z UMLS:C4072987 owl:Class HP:0033307 biolink:NamedThing Increased circulating fetuin A concentration An elevation above normal of fetuin A in the blood circulation. hp0009lx5z 2020-11-28 22:12:34+00:00 peter owl:Class HP:0006045 biolink:NamedThing Short pointed phalanges hp0009lx5z Short pointed digital bones UMLS:C1849740 human_phenotype owl:Class HP:0009803 biolink:NamedThing Short phalanx of finger Short (hypoplastic) phalanx of finger, affecting one or more phalanges. hp0009lx5z Short phalanges|Shortened phalanges|Rudimentary phalanges|Hypoplastic phalanges|Hypoplastic/small phalanges of the hand|Short finger bones|Hypoplastic phalanges of hands|Phalangeal hypoplasia doelkens 2009-02-12T05:57:11Z HP:0006126|HP:0006087|HP:0005771|HP:0001168 UMLS:C0877165 human_phenotype owl:Class HP:0005592 biolink:NamedThing Giant melanosomes in melanocytes The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. hp0009lx5z Macromelanosomes Giant melanosomes can be seen in cafe-au-lait spots and other melanocytic disorders. Giant melanosome and giant melanosome are synonymous. Macromelanosomes can be detected by electron microscopy of the skin. HP:0003342 UMLS:C3806221 human_phenotype owl:Class HP:0011125 biolink:NamedThing Abnormality of dermal melanosomes An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis). hp0009lx5z peter 2011-06-12T10:19:27Z UMLS:C4023525 human_phenotype owl:Class HP:0012322 biolink:NamedThing Perifolliculitis Inflammation surrounding hair follicles. hp0009lx5z Perifollicular inflammation peter 2013-08-11T09:25:58Z SNOMEDCT_US:83341004|UMLS:C0263006 human_phenotype owl:Class HP:0011123 biolink:NamedThing Inflammatory abnormality of the skin The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. hp0009lx5z Inflammatory skin disease|Skin inflammation|Inflammatory abnormality of the skin|Dermatitis|Abnormal tendency to infections of the skin peter 2011-06-12T10:06:04Z HP:0002727|HP:0007423 MSH:D003872|UMLS:C0011603|MP:0004947|UMLS:C3875321|SNOMEDCT_US:703938007 owl:Class HP:0003044 biolink:NamedThing Shoulder flexion contracture Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. hp0009lx5z UMLS:C0409336|SNOMEDCT_US:202265005 human_phenotype owl:Class HP:0003043 biolink:NamedThing Abnormal shoulder morphology An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. hp0009lx5z Abnormality of the shoulder UMLS:C4025659 owl:Class HP:0009197 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 5th finger An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the innermost bone of the pinky finger|Bracket shaped end part of the innermost bone of the pinkie finger|Bracket shaped end part of the innermost bone of the little finger doelkens 2009-01-05T05:05:01Z UMLS:C4024542 human_phenotype owl:Class HP:0010269 biolink:NamedThing Bracket epiphyses of the proximal phalanges of the hand An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the innermost hand bones doelkens 2009-07-06T04:25:12Z UMLS:C4023932 human_phenotype owl:Class HP:0001657 biolink:NamedThing Prolonged QT interval Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). hp0009lx5z Prolong qt interval on ekg|Long Q-T syndrome|Long QT syndrome The QT interval represents electrical depolarization and repolarization of the left and right ventricles. SNOMEDCT_US:111975006|UMLS:C0151878 human_phenotype owl:Class HP:0031547 biolink:NamedThing Abnormal QT interval Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). hp0009lx5z 2017-09-24 22:39:38+00:00 peter owl:Class HP:0006498 biolink:NamedThing Aplasia/Hypoplasia of the patella Absence or underdevelopment of the patella. hp0009lx5z Absent/small kneecap|Absent/hypoplastic patella|Aplastic or hypoplastic patellae|Absent or hypoplastic patellae|Absent/underdeveloped kneecap|Hypoplastic or absent patella|Patellar aplasia/hypoplasia|Small to absent patellae peter 2008-03-28T06:25:00Z HP:0005027|HP:0006374|HP:0005006|HP:0005729|HP:0005702 MSH:C535568|UMLS:C1868577 human_phenotype owl:Class HP:0010343 biolink:NamedThing Aplasia/Hypoplasia of the 5th toe hp0009lx5z Absent/underdeveloped pinky toe|Absent/small little toe|Absent/small pinkie toe|Absent/small pinky toe doelkens 2009-07-16T11:41:49Z UMLS:C4023891 human_phenotype owl:Class HP:0007374 biolink:NamedThing Atrophy/Degeneration involving the caudate nucleus hp0009lx5z peter 2008-04-01T10:47:00Z UMLS:C4024895 human_phenotype owl:Class HP:0002339 biolink:NamedThing Abnormal caudate nucleus morphology Any structural abnormality of the caudate nucleus. hp0009lx5z Abnormality of the caudate nucleus The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent. UMLS:C4025711 human_phenotype owl:Class HP:0004016 biolink:NamedThing Cupped radial metaphyses hp0009lx5z UMLS:C4025443 human_phenotype owl:Class HP:0004015 biolink:NamedThing Abnormality of radial metaphyses hp0009lx5z UMLS:C4025444 human_phenotype owl:Class HP:0006409 biolink:NamedThing Progressive leg bowing Progressive bending or abnormal curvature of the leg. hp0009lx5z UMLS:C1855191 human_phenotype owl:Class HP:0006383 biolink:NamedThing Progressive bowing of long bones Progressive bending or abnormal curvature of a long bone. hp0009lx5z UMLS:C1857137 human_phenotype owl:Class HP:0010408 biolink:NamedThing Osteolytic defects of the middle phalanx of the 2nd toe hp0009lx5z doelkens 2009-07-16T12:43:52Z UMLS:C4023847 human_phenotype owl:Class HP:0010351 biolink:NamedThing Osteolytic defects of the phalanges of the 2nd toe hp0009lx5z doelkens 2009-07-16T11:45:34Z UMLS:C4023888 human_phenotype owl:Class HP:0005025 biolink:NamedThing Hypoplastic distal humeri Underdevelopment of the distal portion of the humerus. hp0009lx5z UMLS:C1968607 human_phenotype owl:Class HP:0006507 biolink:NamedThing Aplasia/hypoplasia of the humerus Absence (due to failure to form) or underdevelopment of the humerus. hp0009lx5z Absent/underdeveloped long bone in upper arm|Absent/small long bone in upper arm peter 2008-03-29T09:15:00Z UMLS:C4025031 human_phenotype owl:Class HP:0025440 biolink:NamedThing Warm reactive autoantibody positivity Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C. hp0009lx5z 2017-04-24 00:16:58+00:00 Warm reactive antibodies react with the patients own RBCs and typically bind to all reagent or donor RBCs against which they are tested. However, they sometimes have specificity (absolute or relative) for a blood group antigen, most commonly a member of the Rh blood group system. Warm reactive autoantibodies are usually polyclonal IgG antibodies, although IgA or monomeric IgM antibodies are seen occasionally. HPO:probinson owl:Class HP:0011285 biolink:NamedThing Long-segment aganglionic megacolon A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. hp0009lx5z peter 2012-01-01T03:02:49Z UMLS:C4023430 human_phenotype owl:Class HP:0002251 biolink:NamedThing Aganglionic megacolon An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. hp0009lx5z Hirschsprung megacolon|Congenital megacolon|Enlarged colon lacking nerve cells|Hirschsprung disease|Megacolon Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. HP:0002030|HP:0002029|HP:0002606|HP:0004391 SNOMEDCT_US:204739008|MEDDRA:10027110|MSH:D008531|SNOMEDCT_US:367495003|UMLS:C0019569|MSH:D006627|UMLS:C0025160|SNOMEDCT_US:33995003 human_phenotype owl:Class HP:3000036 biolink:NamedThing Abnormality of head blood vessel An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. hp0009lx5z Abnormality of head blood vessel|Abnormality of vasculature of head|Abnormality of blood vessel of head vasilevs 2015-08-07T00:36:02Z UMLS:C4073244 human_phenotype owl:Class HP:0025204 biolink:NamedThing Triggered by A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation. hp0009lx5z 2016-12-10 13:33:36+00:00 HPO:probinson owl:Class HP:0010756 biolink:NamedThing Aplasia/Hypoplasia of the premaxilla Absence or underdevelopment of the premaxilla. hp0009lx5z Aplasia/hypoplasia of the primary palate bone|Aplasia/hypoplasia of the intermaxillary bone sdoelken 2010-04-23T10:40:40Z UMLS:C4023713 human_phenotype owl:Class HP:0010758 biolink:NamedThing Abnormality of the premaxilla An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate. hp0009lx5z Abnormality of the intermaxillary bone|Abnormality of the premaxillary bone|Abnormality of the intermaxillary segment of the maxilla|Abnormality of the primary palate bone sdoelken 2010-04-23T10:59:07Z UMLS:C4023711 human_phenotype owl:Class HP:0002754 biolink:NamedThing Osteomyelitis Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. hp0009lx5z Bone infection Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. HP:0002755|HP:0005901 SNOMEDCT_US:60168000|UMLS:C0029443|UMLS:C2242472|SNOMEDCT_US:111253001|MSH:D010019 human_phenotype owl:Class HP:0004603 biolink:NamedThing Hyperconvex vertebral body endplates hp0009lx5z UMLS:C4025307 human_phenotype owl:Class HP:0005106 biolink:NamedThing Abnormality of the vertebral endplates Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. hp0009lx5z peter 2008-03-25T06:01:00Z UMLS:C4025251 human_phenotype owl:Class HP:0012471 biolink:NamedThing Thick vermilion border Increased width of the skin of vermilion border region of upper lip. hp0009lx5z Prominent lips|Plump lips|Full lips|Increased volume of lip|Thick lips|Increased volume of lip vermillion peter 2013-11-26T09:07:51Z UMLS:C1836543 human_phenotype owl:Class HP:0000159 biolink:NamedThing Abnormal lip morphology An abnormality of the lip. hp0009lx5z Deformity of lip|Malformation of lip|Anomaly of lip|Abnormal lip|Lip abnormality|Abnormality of the lip UMLS:C2183966 human_phenotype owl:Class HP:0010475 biolink:NamedThing Cloacal exstrophy Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. hp0009lx5z peter 2009-09-15T10:08:32Z SNOMEDCT_US:20815007|UMLS:C0345217 human_phenotype owl:Class HP:0000877 biolink:NamedThing Insulin-resistant diabetes mellitus at puberty hp0009lx5z Insulin-resistant diabetes mellitus at puberty UMLS:C1837792 human_phenotype owl:Class HP:0000831 biolink:NamedThing Insulin-resistant diabetes mellitus A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels. hp0009lx5z Insulin-resistant diabetes|Insulin resistant diabetes mellitus|Insulin resistant diabetes UMLS:C0854110 human_phenotype owl:Class HP:0011273 biolink:NamedThing Anisocytosis Abnormally increased variability in the size of erythrocytes. hp0009lx5z Unequal size of red blood cells peter 2011-12-28T11:58:24Z UMLS:C0221278|SNOMEDCT_US:57241006|SNOMEDCT_US:165475005 human_phenotype owl:Class HP:0001877 biolink:NamedThing Abnormal erythrocyte morphology Any structural abnormality of erythrocytes (red-blood cells). hp0009lx5z Abnormality of erythrocytes|Abnormality of red blood cells|Abnormality of erythroid lineage cell HP:0010973 UMLS:C4020862|SNOMEDCT_US:12222001|UMLS:C0391870 human_phenotype owl:Class HP:0032740 biolink:NamedThing Focal aware autonomic seizure A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout. hp0009lx5z Focal autonomic seizures without altered responsiveness|Localized autonomic seizures without altered responsiveness|Partial autonomic seizures without altered responsiveness|Localised autonomic seizures without altered responsiveness peter HP:0011156 owl:Class HP:0009589 biolink:NamedThing Bilateral vestibular Schwannoma A bilateral vestibular Schwannoma (acoustic neurinoma). hp0009lx5z Bilateral acoustic neuromas peter 2009-01-28T10:39:14Z MSH:D016518|UMLS:C1136042 human_phenotype owl:Class HP:0010334 biolink:NamedThing Polydactyly affecting the 3rd toe hp0009lx5z doelkens 2009-07-16T11:40:52Z UMLS:C4023898 human_phenotype owl:Class HP:0010112 biolink:NamedThing Mesoaxial foot polydactyly The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. hp0009lx5z Central polydactyly of feet doelkens 2009-05-29T01:11:06Z UMLS:C4021333 human_phenotype owl:Class HP:0031253 biolink:NamedThing Anomalous origin of left subclavian artery Origin of the left subclavian artery from an anomalous anatomical location. hp0009lx5z 2017-08-12 15:41:19+00:00 peter owl:Class HP:0031251 biolink:NamedThing Abnormal subclavian artery morphology Any anomaly of a subclavian artery. hp0009lx5z 2017-08-12 15:35:44+00:00 The left and right subclavian arteries supply blood to the posterior cerebral circulation, cerebellum, posterior neck, upper limbs and the superior and anterior chest wall. The right subclavian artery is a terminal branch of the brachiocephalic artery,and the left subclavian artery is the third branch of the aortic arch (following the left common carotid artery). peter owl:Class HP:0007333 biolink:NamedThing Hypoplasia of the frontal lobes Underdevelopment of the frontal lobe of the cerebrum. hp0009lx5z Hypoplastic frontal lobes|Frontal lobe hypoplasia|Underdeveloped frontal lobe HP:0002424 UMLS:C1849172 human_phenotype owl:Class HP:0006872 biolink:NamedThing Cerebral hypoplasia Underdevelopment of the cerebrum. hp0009lx5z Underdeveloped cerebrum|Small cerebrum HP:0001322 UMLS:C1855330 human_phenotype owl:Class HP:0025530 biolink:NamedThing Xanthomas of the palmar creases The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. hp0009lx5z Xanthoma palmare striatum|Xanthoma striatum palmare 2017-05-18 00:34:15+00:00 HPO:probinson owl:Class HP:0020046 biolink:NamedThing Accommodative esotropia A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. hp0009lx5z 2017-12-20 17:25:43+00:00 Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes. robinp owl:Class HP:0000565 biolink:NamedThing Esotropia A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. hp0009lx5z Inward turning cross eyed Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. SNOMEDCT_US:16596007|UMLS:C0014877|MSH:D004948 human_phenotype owl:Class HP:0033064 biolink:NamedThing Renal interstitial globotriaosylceramide inclusions Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). hp0009lx5z Fabry disease is a rare, progressive lysosomal disorder caused by mutations in the GLA gene. GLA encodes the homodimeric glycoprotein, alpha-galactosidase A, which acts in lysosomes to degrade globotriaosylceramide (GL-3) and its deacylated form, globotriaosylsphingosine (lyso-Gb3). In Fabry disease, the activity of alpha-galactosidase A is deficient or absent, leading to progressive accumulation of glycolipids, primarily GL-3 and lyso-Gb3, in the plasma and numerous cell types throughout the body. peter owl:Class HP:0032581 biolink:NamedThing Abnormal renal insterstitial morphology Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. hp0009lx5z peter owl:Class HP:0033886 biolink:NamedThing Abnormal arcuate artery intima/media morphology Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. hp0009lx5z Abnormalities of the arcuate arterial intima/media 2021-06-23 20:15:22+00:00 peter owl:Class HP:0033837 biolink:NamedThing Abnormal arcuate artery morphology Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla. hp0009lx5z Abnormalities of arcuate arteries 2021-05-16 17:30:06+00:00 peter owl:Class HP:0011777 biolink:NamedThing Thyroid papillary adenoma hp0009lx5z peter 2012-04-22T06:02:12Z UMLS:C4023192 human_phenotype owl:Class HP:0000854 biolink:NamedThing Thyroid adenoma The presence of a adenoma of the thyroid gland. hp0009lx5z MSH:D013964|UMLS:C0151468|NCIT:C2855|SNOMEDCT_US:255033000|SNOMEDCT_US:255034006 human_phenotype owl:Class HP:0011354 biolink:NamedThing Generalized abnormality of skin An abnormality of the skin that is not localized to any one particular region. hp0009lx5z Generalized abnormality of skin|Generalised abnormality of skin peter 2012-03-01T01:55:07Z UMLS:C4021157 human_phenotype owl:Class HP:0006463 biolink:NamedThing Rickets of the lower limbs hp0009lx5z UMLS:C1833323 human_phenotype owl:Class HP:0009231 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 5th finger Patchy increase in bone density of the proximal phalanx of the 5th finger. hp0009lx5z Uneven increase in bone density in the innermost bone of little finger|Uneven increase in bone density in the innermost bone of pinky finger|Uneven increase in bone density in the innermost bone of pinkie finger doelkens 2009-01-05T06:11:33Z UMLS:C4024513 human_phenotype owl:Class HP:0009856 biolink:NamedThing Patchy sclerosis of proximal phalanx of finger Uneven increase in bone density of the proximal phalanges of the hand. hp0009lx5z Uneven increase in bone density in innermost finger bone|Patchy sclerosis of the proximal phalanges of the hand doelkens 2009-03-11T12:16:33Z HP:0009869 UMLS:C4021381 human_phenotype owl:Class HP:0002696 biolink:NamedThing Abnormal parietal bone morphology Any abnormality of the parietal bone of the skull. hp0009lx5z Abnormality of the parietal bone of skull|Abnormality of the parietal bone UMLS:C4021834 human_phenotype owl:Class HP:0002371 biolink:NamedThing Loss of speech hp0009lx5z Loss of speech UMLS:C0542223 owl:Class HP:0002167 biolink:NamedThing Neurological speech impairment hp0009lx5z Speech disorder|Speech impairment|Speech impediment UMLS:C0037822|MSH:D013064 human_phenotype owl:Class HP:0025301 biolink:NamedThing Nocturnal Applies to an abnormality that occurs in or is exacerbated during the night. hp0009lx5z 2016-12-20 12:30:06+00:00 HPO:probinson owl:Class HP:0011008 biolink:NamedThing Temporal pattern The speed at which disease manifestations appear and develop. hp0009lx5z Speed of onset peter 2011-02-20T10:22:32Z UMLS:C4021204 owl:Class HP:0009745 biolink:NamedThing Spinal arachnoid cyst Presence of arachnoid cysts of the spinal canal extradurally in the epidural space. hp0009lx5z Epidural arachnoid cysts of the spinal canal peter 2009-01-31T02:22:38Z UMLS:C4021393 owl:Class HP:0100702 biolink:NamedThing Arachnoid cyst An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. hp0009lx5z Arachnoid cysts|Fluid-filled sac located in membrane surrounding brain or spinal cord Arachnoid cysts can be found on the brain, or on the spine. Intracranial arachnoid cysts usually occur adjacent to the arachnoidal cistern. Spinal arachnoid cysts may be extradural, intradural, or perineural. doelkens 2011-03-31T12:46:59Z MSH:D016080|SNOMEDCT_US:33595009|UMLS:C0078981 human_phenotype owl:Class HP:0033352 biolink:NamedThing Pulmonary hypertensive crisis Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output. hp0009lx5z Pulmonary arterial hypertension crisis 2020-11-30 22:31:06+00:00 peter owl:Class HP:0004890 biolink:NamedThing Elevated pulmonary artery pressure An abnormally elevated blood pressure in the circulation of the pulmonary artery. hp0009lx5z Elevated lung artery pressure|increased pulmonary artery pressure HP:0004958 UMLS:C3805917 owl:Class HP:0000144 biolink:NamedThing Decreased fertility hp0009lx5z Decreased fertility|Abnormal fertility UMLS:C0520927|SNOMEDCT_US:17276009 human_phenotype owl:Class HP:0000080 biolink:NamedThing Abnormality of reproductive system physiology An abnormal functionality of the genital system. hp0009lx5z Abnormality of reproductive system physiology|Genital functional abnormality|Abnormality of genital physiology UMLS:C4021820|UMLS:C4020896 human_phenotype owl:Class HP:0040305 biolink:NamedThing Increased male libido Increased desire for sexual activity on the part of a male. hp0009lx5z owl:Class HP:0040307 biolink:NamedThing Male sexual dysfunction A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity hp0009lx5z owl:Class HP:0001600 biolink:NamedThing Abnormality of the larynx An abnormality of the larynx. hp0009lx5z Laryngeal anomalies|Laryngeal abnormalities UMLS:C4021777 human_phenotype owl:Class HP:0011209 biolink:NamedThing EEG with generalized slow activity grade 4 EEG without electrical activity. hp0009lx5z EEG with generalised slow activity grade 4|Flat line EEG peter 2011-11-19T12:46:05Z UMLS:C4021198 human_phenotype owl:Class HP:0010845 biolink:NamedThing EEG with generalized slow activity Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). hp0009lx5z EEG with generalised slow activity|EEG: generalized slow activity|EEG: generalised slow activity Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain. peter 2010-07-10T08:15:05Z UMLS:C4021217 human_phenotype owl:Class HP:0006515 biolink:NamedThing Interstitial pneumonitis hp0009lx5z UMLS:C0206061|MSH:D017563|SNOMEDCT_US:64667001 owl:Class HP:0040224 biolink:NamedThing Abnormality of fibrinolysis Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) hp0009lx5z Abnormality of the fibrinolytic system requested and created by members of the BRIDGE consortium UMLS:C4280719 owl:Class HP:0001928 biolink:NamedThing Abnormality of coagulation An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. hp0009lx5z Blood coagulation disorder|Abnormal blood coagulation studies|Haemorrhagic disorders|Coagulation abnormalities|Coagulation abnormality SNOMEDCT_US:362970003|UMLS:C0019087|MSH:D006474|UMLS:C1846821|SNOMEDCT_US:64779008|UMLS:C0005779|MSH:D001778 human_phenotype owl:Class HP:0100565 biolink:NamedThing Hydromyelia Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo. hp0009lx5z doelkens 2010-12-21T04:35:22Z SNOMEDCT_US:74740003|UMLS:C0152444|SNOMEDCT_US:11197005 human_phenotype owl:Class HP:0100561 biolink:NamedThing Spinal cord lesion hp0009lx5z doelkens 2010-12-21T04:34:03Z UMLS:C0241224 human_phenotype owl:Class HP:0010254 biolink:NamedThing Small epiphyses of the distal phalanges of the hand hp0009lx5z Small end part of the outermost hand bones doelkens 2009-07-06T04:23:06Z UMLS:C4023946 human_phenotype owl:Class HP:0100877 biolink:NamedThing Renal diverticulum Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. hp0009lx5z Pelvic diverticulum|Caliceal diverticulum|Renal pelvic diverticulum doelkens 2011-12-01T02:29:09Z UMLS:C2315541|SNOMEDCT_US:433036004 human_phenotype owl:Class HP:0004742 biolink:NamedThing Abnormal renal collecting system morphology An abnormality of the renal collecting system. hp0009lx5z Abnormality of the renal collecting system|Abnormal collecting system|Renal collecting system anomalies HP:0004731 UMLS:C1851303 human_phenotype owl:Class HP:0010261 biolink:NamedThing Fragmentation of the epiphyses of the middle phalanges of the hand Fragmented appearance of the epiphyses of the middle phalanges of the hand. hp0009lx5z Fragmentation of the end part of the middle hand bones doelkens 2009-07-06T04:24:15Z UMLS:C4023940 human_phenotype owl:Class HP:0100464 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 3rd toe hp0009lx5z Uneven increase in bone density in the innermost bone of the 3rd toe UMLS:C4022063 human_phenotype owl:Class HP:0010208 biolink:NamedThing Patchy sclerosis of proximal toe phalanx Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Patchy sclerosis of the proximal phalanges of the toes|Uneven increase in bone density in innermost toe bone doelkens 2009-05-29T01:54:18Z UMLS:C4021313 human_phenotype owl:Class HP:0003235 biolink:NamedThing Hypermethioninemia An increased concentration of methionine in the blood. hp0009lx5z Methioninemia|Increased methionine in blood Elevated blood methionine levels in the range of 500-2000 micromolar. UMLS:C0268621|SNOMEDCT_US:43123004|MSH:C564683|SNOMEDCT_US:124283007|SNOMEDCT_US:57835009 human_phenotype owl:Class HP:0010901 biolink:NamedThing Abnormal circulating methionine concentration Any deviation from the normal concentration of methionine in the blood circulation. hp0009lx5z Abnormality of methionine metabolism peter 2010-12-02T05:15:22Z UMLS:C4023665 human_phenotype owl:Class HP:0012646 biolink:NamedThing Retractile testis A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex. hp0009lx5z Retractile testicle peter 2014-02-01T12:57:41Z UMLS:C0520578|SNOMEDCT_US:21779006 human_phenotype owl:Class HP:0000035 biolink:NamedThing Abnormal testis morphology An anomaly of the testicle (the male gonad). hp0009lx5z Anomaly of the testes|Abnormality of the testis UMLS:C0266423|SNOMEDCT_US:55631001 human_phenotype owl:Class HP:0012280 biolink:NamedThing Hepatic amyloidosis A form of amyloidosis that affects the liver. hp0009lx5z peter 2013-04-07T03:59:46Z UMLS:C0267839|SNOMEDCT_US:9551004 owl:Class HP:0000930 biolink:NamedThing Elevated imprint of the transverse sinuses hp0009lx5z Thinning and bulging of occipital bone over the transverse sinuses|Thinning and bulging of posterior skull bones over the transverse sinuses|Elevated imprint of occipital bone over the transverse sinuses|Elevated imprint of posterior skull bones over the transverse sinuses UMLS:C4025817 human_phenotype owl:Class HP:0002693 biolink:NamedThing Abnormality of the skull base An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. hp0009lx5z Abnormality of cranial base|Abnormality of the skull base UMLS:C4025688 human_phenotype owl:Class HP:0003097 biolink:NamedThing Short femur An abnormal shortening of the femur. hp0009lx5z Hypoplasia of the femora|Femoral hypoplasia|Short thighbone|Short femurs HP:0009749 UMLS:C0345375|SNOMEDCT_US:93255008 human_phenotype owl:Class HP:0003026 biolink:NamedThing Short long bone One or more abnormally short long bone. hp0009lx5z shortened long tubular bones|Short long bone|Long bone shortening|Short tubular bones Long bones are also known as tubular bones. HP:0005647|HP:0006382|HP:0005822|HP:0005052|HP:0004988|HP:0005029|HP:0005044|HP:0000949|HP:0005000|HP:0004983|HP:0005083|HP:0005077|HP:0006472|HP:0006457 UMLS:C1854912 human_phenotype owl:Class HP:0010915 biolink:NamedThing Abnormal circulating pyruvate family amino acid concentration An abnormality of a pyruvate family amino acid metabolic process. hp0009lx5z Abnormality of pyruvate family amino acid metabolism peter 2010-12-08T08:55:53Z UMLS:C4023655 human_phenotype owl:Class HP:0033108 biolink:NamedThing Abnormal circulating proteinogenic amino acid derivative concentration Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid. hp0009lx5z 2020-08-29 12:01:40+00:00 peter owl:Class HP:0010402 biolink:NamedThing Triangular shaped proximal phalanx of the 2nd toe hp0009lx5z Triangular shaped innermost 2nd toe bone doelkens 2009-07-16T11:58:15Z UMLS:C4023852 human_phenotype owl:Class HP:0010354 biolink:NamedThing Triangular shaped phalanges of the 2nd toe hp0009lx5z Triangular shaped bone of 2nd toe|Triangular shaped bone of second toe doelkens 2009-07-16T11:45:34Z UMLS:C4023886 human_phenotype owl:Class HP:0033644 biolink:NamedThing Elevated circulating erythropoietin concentration Increased amount of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. hp0009lx5z Elevated circulating erythropoietin 2021-02-24 12:41:03+00:00 peter owl:Class HP:0003117 biolink:NamedThing Abnormal circulating hormone concentration An abnormal concentration of a hormone in the blood. hp0009lx5z Abnormal circulating hormone level|Abnormality of circulating hormone level UMLS:C4025652 owl:Class HP:0040303 biolink:NamedThing Decreased serum iron hp0009lx5z Low serum iron owl:Class HP:0040130 biolink:NamedThing Abnormal serum iron concentration hp0009lx5z HPO:skoehler UMLS:C0235760 owl:Class HP:0033617 biolink:NamedThing Supernumerary tracheal bronchus Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus. hp0009lx5z 2021-01-30 22:34:18+00:00 peter owl:Class HP:0033614 biolink:NamedThing Tracheal bronchus Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced. hp0009lx5z 2021-01-30 22:30:23+00:00 peter owl:Class HP:0010338 biolink:NamedThing Deviation of the 4th toe hp0009lx5z Displacement of the 4th toe doelkens 2009-07-16T11:41:21Z UMLS:C4021293 human_phenotype owl:Class HP:0002744 biolink:NamedThing Bilateral cleft lip and palate Cleft lip and cleft palate affecting both sides of the face. hp0009lx5z Bilateral cleft lip and cleft palate|Right and left cleft lip and palate SNOMEDCT_US:1085331000119107|UMLS:C1398522 human_phenotype owl:Class HP:0100337 biolink:NamedThing Bilateral cleft palate Nonmidline cleft palate on the left and right sides. hp0009lx5z Right and left cleft palate|Bilateral palatoschisis doelkens 2010-10-13T04:16:32Z UMLS:C3553084 human_phenotype owl:Class HP:0025212 biolink:NamedThing Triggered by fasting Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting). hp0009lx5z Fasting triggered symptoms|Triggered by fasting|Fasting triggered attacks 2016-12-10 13:50:53+00:00 HPO:probinson owl:Class HP:0430017 biolink:NamedThing Abnormality of uvular muscle An abnormality of the uvular muscle hp0009lx5z Abnormality of musculus uvulae UMLS:C4073199 owl:Class HP:0032991 biolink:NamedThing Abnormal pulmonary fissure morphology An abnormal form or number of the pulmonary fissures. hp0009lx5z A fissure is the infolding of visceral pleura that separates one lobe or part of a lobe from another; thus, the interlobar fissures are produced by two layers of visceral pleura. The azygos fissure, unlike the other fissures, is formed by two layers each of visceral and parietal pleura. Supernumerary fissures usually separate segments rather than lobes. Supernumerary fissures usually separate segments rather than lobes. peter owl:Class HP:0003720 biolink:NamedThing Generalized muscle hypertrophy Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution. hp0009lx5z Generalised increase in muscle cell size|Generalised muscle hypertrophy|Generalized increase in muscle cell size UMLS:C3805639 human_phenotype owl:Class HP:0003712 biolink:NamedThing Skeletal muscle hypertrophy Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells). hp0009lx5z Increased skeletal muscle cells|Hypertrophic muscles|Muscular hypertrophy|Muscle hypertrophy Increased muscle bulk based on clinical observation. UMLS:C2265792 human_phenotype owl:Class HP:0033477 biolink:NamedThing Abnormal circulating lipoprotein lipase concentration A deviation from the normal concentration of lipoprotein lipase in the blood circulation. hp0009lx5z 2021-01-09 22:55:35+00:00 Lipoprotein lipase (LPL) is an extracellular enzyme on the vascular endothelial surface that degrades circulating triglycerides in the bloodstream. These triglycerides are embedded in very low-density lipoproteins (VLDL) and in chylomicrons that travel through the bloodstream. peter owl:Class HP:0410354 biolink:NamedThing Increased sialylated N-glycan level An abnormal increase in the concentration of sialylated N-glycans on glycoproteins. hp0009lx5z Increased concentration of sialylated N-glycans on glycoproteins owl:Class HP:0000834 biolink:NamedThing Abnormality of the adrenal glands Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. hp0009lx5z Adrenal abnormalities|Adrenal gland disease SNOMEDCT_US:30171000|UMLS:C0001621|MSH:D000307|UMLS:C4021794 human_phenotype owl:Class HP:0000818 biolink:NamedThing Abnormality of the endocrine system An abnormality of the endocrine system. hp0009lx5z Endocrine system disease The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. MSH:D004700|SNOMEDCT_US:362969004|UMLS:C4025823|UMLS:C0014130 human_phenotype owl:Class HP:0040328 biolink:NamedThing Focal hyperintensity of cerebral white matter on MRI An abnormal area of increased brightness (hyperintensity) that is limited to one particular area. hp0009lx5z ORCID:0000-0002-5316-1399 owl:Class HP:0007042 biolink:NamedThing Focal white matter lesions hp0009lx5z ORCID:0000-0002-5316-1399 UMLS:C4024946 human_phenotype owl:Class HP:0003265 biolink:NamedThing Neonatal hyperbilirubinemia A type of hyperbilirubinemia with neonatal onset. hp0009lx5z High blood bilirubin levels in neonate|Hyperbilirubinemia, neonatal HP:0008152 MSH:D051556|UMLS:C0857007|SNOMEDCT_US:281610001 human_phenotype owl:Class HP:0002904 biolink:NamedThing Hyperbilirubinemia An increased amount of bilirubin in the blood. hp0009lx5z High blood bilirubin levels UMLS:C0311468|SNOMEDCT_US:26165005 owl:Class HP:0001691 biolink:NamedThing Muscular subvalvular aortic stenosis A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract. hp0009lx5z Muscular subaortic stenosis UMLS:C3887554 human_phenotype owl:Class HP:0001682 biolink:NamedThing Subvalvular aortic stenosis A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. hp0009lx5z Subaortic stenosis|Narrowing of blood vessel below aortic heart valve Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta. UMLS:C0340375|MSH:D001020|SNOMEDCT_US:204368006 human_phenotype owl:Class HP:0030681 biolink:NamedThing Abnormal morphology of myocardial trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). hp0009lx5z UMLS:C4073289 owl:Class HP:0001637 biolink:NamedThing Abnormal myocardium morphology A structural anomaly of the muscle layer of the heart wall. hp0009lx5z Abnormality of the myocardium UMLS:C4025758 owl:Class HP:0100453 biolink:NamedThing Osteolytic defects of the middle phalanx of the 4th toe hp0009lx5z UMLS:C4022074 human_phenotype owl:Class HP:0010375 biolink:NamedThing Osteolytic defects of the phalanges of the 4th toe hp0009lx5z doelkens 2009-07-16T11:51:46Z UMLS:C4023873 human_phenotype owl:Class HP:0010877 biolink:NamedThing Monocular strabismus A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times. hp0009lx5z Unilateral strabismus peter 2010-09-08T10:47:57Z UMLS:C4023678 human_phenotype owl:Class HP:0000486 biolink:NamedThing Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. hp0009lx5z Cross-eyed|Squint|Squint eyes HP:0000487 MSH:D013285|SNOMEDCT_US:22066006|SNOMEDCT_US:128602000|UMLS:C0038379 human_phenotype owl:Class HP:0007979 biolink:NamedThing Gaze-evoked horizontal nystagmus Horizontal nystagmus made apparent by looking to the right or to the left. hp0009lx5z Nystagmus, horizontal, gaze-evoked|Nystagmus, horizontal gaze-evoked HP:0007639 UMLS:C1853394 human_phenotype owl:Class HP:0000640 biolink:NamedThing Gaze-evoked nystagmus Nystagmus made apparent by looking to the right or to the left. hp0009lx5z SNOMEDCT_US:29356006|MSH:D009760|UMLS:C0271390 human_phenotype owl:Class HP:0040275 biolink:NamedThing Adenocarcinoma of the large intestine A malignant epithelial tumor with a glandular organization that originates in the large intestine. hp0009lx5z ORCID:0000-0002-5316-1399 NCIT:C2852|SNOMEDCT_US:408645001|UMLS:C1319315 owl:Class HP:0100834 biolink:NamedThing Neoplasm of the large intestine The presence of a neoplasm of the large intestine. hp0009lx5z Large intestine tumour|Large intestine tumor doelkens 2011-06-09T06:03:45Z MSH:D015179|UMLS:C0009404|SNOMEDCT_US:126837005|NCIT:C3262 human_phenotype owl:Class HP:0000366 biolink:NamedThing Abnormality of the nose An abnormality of the nose. hp0009lx5z Anomaly of the nose|Nasal malformation|Abnormality of the nose|Nasal deformity|Nasal anomaly|Nasal abnormality|Malformation of the nose|Deformity of the nose UMLS:C0265736|SNOMEDCT_US:72089000|SNOMEDCT_US:128274005|UMLS:C0240547|UMLS:C2235909 human_phenotype owl:Class HP:0000467 biolink:NamedThing Neck muscle weakness Decreased strength of the neck musculature. hp0009lx5z Neck muscle weakness|Flaccid neck|Floppy neck UMLS:C0240479 human_phenotype owl:Class HP:0003237 biolink:NamedThing Increased circulating IgG level An abnormally increased level of immunoglobulin G in blood. hp0009lx5z Increased total IgG in blood|Increased IgG level|Increased levels of IgG UMLS:C1858977 human_phenotype owl:Class HP:0410242 biolink:NamedThing Abnormal circulating IgG level An abnormal deviation from normal levels of IgG immunoglobulin in blood. hp0009lx5z Abnormal IgG level in blood 2018-10-12 20:32:38+00:00 owl:Class HP:0100089 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 2nd toe hp0009lx5z Abnormality of the end part of the middle bone of the 2nd toe doelkens 2010-06-24T10:01:42Z UMLS:C4022332 human_phenotype owl:Class HP:0010126 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the hallux In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux. hp0009lx5z Abnormality of the end part of the innermost bone of the big toe doelkens 2009-05-29T01:17:54Z UMLS:C4024033 human_phenotype owl:Class HP:0011664 biolink:NamedThing Left ventricular noncompaction cardiomyopathy Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. hp0009lx5z Left ventricular non-compaction cardiomyopathy Left ventricular noncompaction cardiomyopathy (LVNC), also known as spongy myocardium, is a distinct form of cardiomyopathy occurring in-utero when segments of spongy myocardium fail to transform into compact, mature musculature resulting in prominent myocardial trabeculae, deep intra-trabecular recesses, and decreased cardiac function. It has been proposed that LVNC results from arrest of the compaction process during the second month of embryological development. peter 2012-04-09T11:31:40Z UMLS:C4021133 human_phenotype owl:Class HP:0012817 biolink:NamedThing Noncompaction cardiomyopathy A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. hp0009lx5z Spongiform cardiomyopathy|Noncompaction of the ventricular myocardium Noncompaction of the ventricular myocardium is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects, but it is also seen in the absence of other cardiac anomalies. During early embryonic development, the myocardium is a loose network of interwoven fibers separated by deep recesses that link the myocardium with the left ventricular cavity. Gradual compaction of this spongy meshwork of fibers and intertrabecular recesses, or sinusoids, occurs between weeks 5 and 8 of embryonic life, proceeding from the epicardium to endocardium and from the base of the heart to the apex. Noncompaction of the ventricular myocardium (NVM) is an uncommon finding. It is thought to be caused by arrest of the normal process of endomyocardial morphogenesis. The left ventricle is uniformly affected, but biventricular noncompaction has been reported, with right ventricular noncompaction described in less than one-half of patients. Because of difficulty in distinguishing normal variants in the highly trabeculated right ventricle from the pathological noncompacted ventricle, several authors dispute the existence of right ventricular noncompaction [PMID:15210614]. hecht 2014-05-28T08:37:34Z UMLS:C1839832 human_phenotype owl:Class HP:0006288 biolink:NamedThing Advanced eruption of teeth Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. hp0009lx5z Advanced tooth eruption|Early dental eruption|Premature dental eruption|Advanced dental eruption|Premature tooth eruption|Eruption, advanced|Premature eruption of teeth|Early eruption of teeth There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum. HP:0006317 UMLS:C0266054|SNOMEDCT_US:16000003 owl:Class HP:0006292 biolink:NamedThing Abnormality of dental eruption An abnormality of tooth eruption. hp0009lx5z Disorder of tooth eruption|Disturbance of tooth eruption|Disturbance of dental eruption|Anomaly of dental eruption|Abnormality of tooth eruption|Anomaly of tooth eruption|Abnormal dental eruption|Disorder of dental eruption The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars. UMLS:C3874458|UMLS:C1859363|SNOMEDCT_US:1086101000119107|UMLS:C0012767|SNOMEDCT_US:234949000 owl:Class HP:0000839 biolink:NamedThing Pituitary dwarfism A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. hp0009lx5z MSH:D004393|SNOMEDCT_US:7530009|SNOMEDCT_US:367460001|UMLS:C0013338 owl:Class HP:0012574 biolink:NamedThing Mesangial hypercellularity Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. hp0009lx5z Mesangial proliferation See Figure 3a of PMID:32866505. peter 2014-01-16T12:43:25Z UMLS:C0545017|SNOMEDCT_US:125510009 owl:Class HP:0033231 biolink:NamedThing Abnormal glomerular mesangial cellularity Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. hp0009lx5z 2020-10-31 12:41:42+00:00 peter owl:Class HP:0100076 biolink:NamedThing Triangular epiphyses of the 4th toe hp0009lx5z Triangular end part of the 4th toe bone doelkens 2010-06-24T09:59:30Z UMLS:C4022345 human_phenotype owl:Class HP:0031479 biolink:NamedThing Dilatation of the mitral annulus An increase in the diameter of the ring (annulus) of the mitral valve. hp0009lx5z 2017-09-17 22:28:40+00:00 peter owl:Class HP:0100628 biolink:NamedThing Esophageal diverticulum The presence of a diverticulum of the esophagus. hp0009lx5z Esophageal pouch A diverticulum is a blind ended outpouching through the wall of a tubular organ or bounded cavity. doelkens 2010-12-29T02:22:08Z MSH:D004936|UMLS:C0014854|SNOMEDCT_US:414133009|SNOMEDCT_US:204667006 human_phenotype owl:Class HP:0032806 biolink:NamedThing Focal impaired awareness sensory seizure with visual features A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0000968 biolink:NamedThing Ectodermal dysplasia Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. hp0009lx5z This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future. HP:0007615 SNOMEDCT_US:8654005|UMLS:C0013575|MSH:D004476|SNOMEDCT_US:254154003 human_phenotype owl:Class HP:0100153 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 3rd toe hp0009lx5z doelkens 2010-06-24T10:24:13Z UMLS:C4022268 human_phenotype owl:Class HP:4000041 biolink:NamedThing AA amyloidosis Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant. hp0009lx5z 2021-05-02 20:38:51+00:00 robinp owl:Class HP:0011034 biolink:NamedThing Amyloidosis The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. hp0009lx5z Amyloid disease The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy. peter 2011-03-06T10:56:39Z MSH:D000686|UMLS:C0002726|SNOMEDCT_US:17602002 owl:Class HP:0004354 biolink:NamedThing Abnormal circulating carboxylic acid concentration Any deviation from the normal concentration of a carboxylic acid in the blood circulation. hp0009lx5z Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). peter 2008-03-17T01:11:00Z UMLS:C4025344 human_phenotype owl:Class HP:0200018 biolink:NamedThing Protanomaly A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. hp0009lx5z Colorblindness, partial, protan series|Red-weak Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. sebastiankohler 2010-06-16T12:55:24Z HP:0200019 SNOMEDCT_US:51445007|UMLS:C3887980|MSH:D003117|UMLS:C0155015 human_phenotype owl:Class HP:0011519 biolink:NamedThing Anomalous trichromacy Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones. hp0009lx5z Because the spectral sensitivities of individuals with anomalous trichromacy are shifted compared to normal, they mix the primary colors in different proportions. peter 2012-04-06T06:57:10Z UMLS:C4023316 human_phenotype owl:Class HP:0004493 biolink:NamedThing Craniofacial hyperostosis Excessive growth of the craniofacial bones. hp0009lx5z Excessive bone growth of the skull and face|Enlargement of craniofacial bones|Hypertrophy of craniofacial bones|Thick craniofacial bones|Overgrowth of craniofacial bones|Increased ossification of craniofacial bones|Excessive growth of craniofacial bones|Hyperostosis of craniofacial bones UMLS:C4280517|UMLS:C1868085|UMLS:C4280516|UMLS:C4280518 human_phenotype owl:Class HP:0012101 biolink:NamedThing Decreased serum creatinine An abnormally reduced amount of creatinine in the blood. hp0009lx5z Low blood creatinine level|Decreased serum creatinine|Reduced creatinine levels hecht 2012-08-22T08:42:16Z SNOMEDCT_US:166715006|UMLS:C0428282 human_phenotype owl:Class HP:0012100 biolink:NamedThing Abnormal circulating creatinine concentration An abnormal concentration of creatinine in the blood. hp0009lx5z Creatinine levels abnormal|Abnormal blood creatinine level|Abnormal circulating creatinine level hecht 2012-08-22T08:40:14Z UMLS:C4021101 owl:Class HP:0011014 biolink:NamedThing Abnormal glucose homeostasis Abnormality of glucose homeostasis. hp0009lx5z An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. peter 2011-02-21T10:37:21Z UMLS:C4023598 human_phenotype owl:Class HP:0410058 biolink:NamedThing Increased level of D-threitol in CSF An increase in the level of D-threitol in the cerebrospinal fluid. hp0009lx5z Increased level of D-threitol in cerebrospinal fluid 2018-01-27 02:34:44+00:00 D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. ORCID:0000-0001-5208-3432 owl:Class HP:0033116 biolink:NamedThing Duodenal gastric metaplasia Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border. hp0009lx5z 2020-09-03 11:59:20+00:00 Despite structural analogy, the epithelium in the duodenal gastric metaplasia (DGM) differs from true gastric epithelium with respect to lectin composition. DGM is considered to be an acquired condition related to gastric acid injury and H pylori may also be associated in its pathogenesis peter owl:Class HP:0030501 biolink:NamedThing Macular crystals Crystalline deposits in the macula. hp0009lx5z UMLS:C4072988 owl:Class HP:0000525 biolink:NamedThing Abnormality iris morphology An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. hp0009lx5z Abnormality of the iris UMLS:C4025845 human_phenotype owl:Class HP:0007238 biolink:NamedThing Nonarteriosclerotic cerebral calcification hp0009lx5z Cerebral calcification, nonarteriosclerotic UMLS:C4021579 human_phenotype owl:Class HP:0003145 biolink:NamedThing Decreased adenosylcobalamin Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. hp0009lx5z Decreased ADOCBL UMLS:C1848556 human_phenotype owl:Class HP:0040126 biolink:NamedThing Abnormal vitamin B12 level A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. hp0009lx5z Abnormal serum cobalamin level HPO:skoehler UMLS:C4021032 owl:Class HP:0010097 biolink:NamedThing Partial duplication of the distal phalanx of the hallux hp0009lx5z Partial duplication of the outermost bone of big toe|Notched outermost bone of big toe|Bifid distal phalanx of hallux doelkens 2009-05-29T12:19:30Z HP:0008091 UMLS:C4021337 human_phenotype owl:Class HP:0010101 biolink:NamedThing Partial duplication of the phalanges of the hallux hp0009lx5z partial duplication of hallux|Partial duplication of big toe doelkens 2009-05-29T12:22:12Z HP:0004678 UMLS:C1855005 human_phenotype owl:Class HP:0009527 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 2nd finger hp0009lx5z Enlarged end part of innermost long bone of index finger|Large epiphysis of proximal index finger phalanx doelkens 2009-01-16T01:12:34Z HP:0004129 UMLS:C4021455 human_phenotype owl:Class HP:0008316 biolink:NamedThing Abnormal mitochondria in muscle tissue An abnormality of the mitochondria in muscle tissue. hp0009lx5z Abnormal mitochondria in muscle This finding is typically demonstrated by muscle biopsy. UMLS:C4021546 human_phenotype owl:Class HP:0009343 biolink:NamedThing Small epiphysis of the distal phalanx of the 3rd finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. hp0009lx5z Small end part of the outermost long bone of the middle finger doelkens 2009-01-12T11:18:33Z UMLS:C4024424 human_phenotype owl:Class HP:0032508 biolink:NamedThing Polyembolokoilamania Habitual insertion of foreign bodies into bodily orifices. hp0009lx5z 2019-05-23 23:11:22+00:00 peter owl:Class HP:0033698 biolink:NamedThing Monomorphic vesicular eruption A type of vesicular eruption in which the vesicles are at same stages. hp0009lx5z 2021-03-07 23:07:55+00:00 Monomorphic vesicular eruptions should be differentiated from polymorphic vesicular eruptions such as those seem in chickenpox. peter owl:Class HP:0033697 biolink:NamedThing Vesicular eruption A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic. hp0009lx5z 2021-03-07 23:06:54+00:00 peter owl:Class HP:0008432 biolink:NamedThing Anterior wedging of L1 An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). hp0009lx5z UMLS:C4024677 human_phenotype owl:Class HP:0008422 biolink:NamedThing Vertebral wedging An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. hp0009lx5z Wedged vertebrae|Wedge-shaped vertebrae|anterior wedging UMLS:C1695776 human_phenotype owl:Class HP:3000059 biolink:NamedThing Abnormal inferior thyroid vein morphology An abnormality of an inferior thyroid vein. hp0009lx5z Abnormality of inferior thyroid vein vasilevs 2015-08-07T03:18:48Z UMLS:C4073267 human_phenotype owl:Class HP:0002624 biolink:NamedThing Abnormal venous morphology An anomaly of vein. hp0009lx5z Venous abnormality|Abnormal vein UMLS:C0241665 human_phenotype owl:Class HP:0005899 biolink:NamedThing Metaphyseal dysostosis Abnormal mineralization of the metaphyseal area of bones. hp0009lx5z UMLS:C0265290|SNOMEDCT_US:28681006 human_phenotype owl:Class HP:0033733 biolink:NamedThing Low-grade vesicoureteral reflux Vesicoureteral reflux without dilation of the renal calyces (Grade I-II). hp0009lx5z 2021-04-16 13:55:32+00:00 peter owl:Class HP:0000076 biolink:NamedThing Vesicoureteral reflux Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. hp0009lx5z Vesico-ureteral reflux|Ureteric reflux|Ureteral reflux|Vesicoureteric reflux HP:0006002|HP:0008667|HP:0005998 MSH:D014718|UMLS:C0042580|SNOMEDCT_US:197811007|Fyler:4510 owl:Class HP:0008726 biolink:NamedThing Hypoplasia of the vagina Developmental hypoplasia of the vagina. hp0009lx5z Underdeveloped vagina|Hypoplastic vagina|Rudimentary vagina HP:0011938 SNOMEDCT_US:253836009|UMLS:C0345309|UMLS:C1442988 human_phenotype owl:Class HP:0011026 biolink:NamedThing Aplasia/Hypoplasia of the vagina Aplasia or developmental hypoplasia of the vagina. hp0009lx5z Absent/small vagina|Absent/underdeveloped vagina peter 2011-03-02T06:17:46Z UMLS:C4023586 human_phenotype owl:Class HP:0008636 biolink:NamedThing Lobular glomerulopathy hp0009lx5z UMLS:C4024651 human_phenotype owl:Class HP:0000095 biolink:NamedThing Abnormal renal glomerulus morphology A structural anomaly of the glomerulus. hp0009lx5z Abnormality of renal glomerulus morphology|Morphologic abnormality of the renal glomerulus Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation. UMLS:C4025889 owl:Class HP:0033824 biolink:NamedThing Pleural mass A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). hp0009lx5z 2021-05-09 12:26:15+00:00 peter owl:Class HP:0033822 biolink:NamedThing Mass on thoracic imaging A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features. hp0009lx5z 2021-05-09 12:24:00+00:00 peter owl:Class HP:0005829 biolink:NamedThing Maldevelopment of radioulnar joint hp0009lx5z UMLS:C3149879 human_phenotype owl:Class HP:0003059 biolink:NamedThing Abnormality of the radioulnar joints hp0009lx5z UMLS:C4025658 human_phenotype owl:Class HP:0005653 biolink:NamedThing Moderate generalized osteoporosis Moderate osteoporosis. hp0009lx5z Moderate generalised osteoporosis UMLS:C4025163 human_phenotype owl:Class HP:0040160 biolink:NamedThing Generalized osteoporosis hp0009lx5z Generalised osteoporosis with pathologic fractures|Generalized osteoporosis with pathologic fractures|Generalised osteoporosis HP:0005744 UMLS:C3805887|SNOMEDCT_US:64859006|MSH:D010024|UMLS:C0029456 owl:Class HP:0009269 biolink:NamedThing Small epiphysis of the proximal phalanx of the 4th finger Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. hp0009lx5z Small end part of the innermost bone of the ring finger doelkens 2009-01-07T12:12:59Z UMLS:C4024480 human_phenotype owl:Class HP:0010276 biolink:NamedThing Small epiphyses of the proximal phalanges of the hand hp0009lx5z Small end part of the innermost hand bones doelkens 2009-07-06T04:25:12Z UMLS:C4023925 human_phenotype owl:Class HP:0011497 biolink:NamedThing Iris neovascularization New growth of vessels on the surface of the iris. hp0009lx5z Neovascularization of the iris|New blood vessel formation in iris peter 2012-04-03T07:32:43Z UMLS:C0154916|SNOMEDCT_US:51995000 human_phenotype owl:Class HP:0007905 biolink:NamedThing Abnormal iris vasculature hp0009lx5z Abnormality of iris blood vessels UMLS:C3275963 human_phenotype owl:Class HP:0007410 biolink:NamedThing Palmoplantar hyperhidrosis An abnormally increased perspiration on palms and soles. hp0009lx5z Hyperhidrosis of palms and soles|Excessive sweating of palms and soles HP:0007624 SNOMEDCT_US:403375001|UMLS:C1274743|MSH:C563185 human_phenotype owl:Class HP:0006089 biolink:NamedThing Palmar hyperhidrosis hp0009lx5z Excessive sweating of hands UMLS:C1856953 human_phenotype owl:Class HP:0009954 biolink:NamedThing Complete duplication of the proximal phalanx of the 2nd finger Complete duplication of the second proximal phalanx of hand. hp0009lx5z Complete duplication of the proximal bone of the index finger doelkens 2009-05-15T02:06:11Z UMLS:C4024148 human_phenotype owl:Class HP:0100026 biolink:NamedThing Arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. hp0009lx5z doelkens 2010-05-31T05:32:31Z UMLS:C0003857|SNOMEDCT_US:234141001|SNOMEDCT_US:24551003|MSH:D001165 human_phenotype owl:Class HP:0025629 biolink:NamedThing Anti-myelin-associated glycoprotein antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG). hp0009lx5z 2019-04-09 00:48:21+00:00 The anti-myelin-associated glycoprotein (MAG) neuropathy is an antibody-mediated demyelinating neuropathy. The clinical picture is characterized by a distal and symmetric, mostly sensory neuropathy. Monoclonal immunoglobulin M anti-MAG antibodies are uniquely found in this condition and are believed to be pathogenic. HPO:probinson owl:Class HP:0002715 biolink:NamedThing Abnormality of the immune system An abnormality of the immune system. hp0009lx5z Immunological abnormality|Abnormality of the immune system The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. HP:0003346|HP:0010986|HP:0003257 UMLS:C4021753 owl:Class HP:0002099 biolink:NamedThing Asthma Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. hp0009lx5z Reactive airway disease|Bronchial asthma|Asthma HP:0002112 SNOMEDCT_US:195967001|MSH:D001249|UMLS:C3714497|UMLS:C0004096|SNOMEDCT_US:991000119106 owl:Class HP:0033273 biolink:NamedThing Loss of glomerular endothelial cell fenestration Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. hp0009lx5z 2020-11-28 16:22:34+00:00 peter owl:Class HP:0100182 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 4th toe hp0009lx5z Cone-shaped end part of the middle bone of the 4th toe doelkens 2010-06-24T04:54:13Z UMLS:C4022239 human_phenotype owl:Class HP:0100095 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 4th toe hp0009lx5z Abnormality of the end part of the middle bone of the 4th toe doelkens 2010-06-24T10:02:24Z UMLS:C4022326 human_phenotype owl:Class HP:0006267 biolink:NamedThing Large placenta Increased size of the placenta. hp0009lx5z Large placenta|Placental enlargement UMLS:C0566693|SNOMEDCT_US:289263000 human_phenotype owl:Class HP:0012767 biolink:NamedThing Abnormal placental size A deviation from normal size of the placenta. hp0009lx5z peter 2014-04-07T12:11:29Z UMLS:C4022732 human_phenotype owl:Class HP:0002020 biolink:NamedThing Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. hp0009lx5z GERD|Gastro-oesophageal reflux|Acid reflux disease|Acid reflux|Gastroesophageal reflux disease|Heartburn HP:0004793 SNOMEDCT_US:235595009|SNOMEDCT_US:16331000|MSH:D006356|MSH:D005764|UMLS:C0018834|UMLS:C0017168|SNOMEDCT_US:698065002 owl:Class HP:0032359 biolink:NamedThing Decreased forced expiratory flow 25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. hp0009lx5z Decreased FEF25-75% 2019-02-23 17:12:34+00:00 peter owl:Class HP:0030878 biolink:NamedThing Abnormality on pulmonary function testing Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. hp0009lx5z Abnormal pulmonary function test|Abnormal spirometry test HP:0032340 UMLS:C4280728 owl:Class HP:0100394 biolink:NamedThing Short middle phalanx of the 5th toe Developmental hypoplasia of the middle phalanx of the 5th toe. hp0009lx5z Short middle bone of pinky toe|Short middle phalanx of the fifth toe|Short middle bone of pinkie toe|Short middle bone of little toe|Hypoplastic/small middle phalanx of the 5th toe UMLS:C4021003 human_phenotype owl:Class HP:0100368 biolink:NamedThing Short phalanx of the 5th toe Developmental hypoplasia of one or more phalanx of little toe. hp0009lx5z Short pinky toe bone|Short little toe bone|Short pinkie toe bone|Short phalanx of the fifth toe|Hypoplastic/small phalanges of the 5th toe UMLS:C4021012 human_phenotype owl:Class HP:0100063 biolink:NamedThing Small epiphyses of the 3rd toe hp0009lx5z Small end part of the 3rd toe bone doelkens 2010-06-24T09:58:55Z UMLS:C4022358 human_phenotype owl:Class HP:0011462 biolink:NamedThing Young adult onset Onset of disease at the age of between 16 and 40 years. hp0009lx5z peter 2012-03-25T07:01:15Z UMLS:C3554568 owl:Class HP:0003581 biolink:NamedThing Adult onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. hp0009lx5z Onset in adulthood|Symptoms begin in adulthood|Onset in early adulthood HP:0003627|HP:0003585|HP:0003669|HP:0003662|HP:0003598 UMLS:C1853562 owl:Class HP:0033070 biolink:NamedThing Impaired self monitoring Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior. hp0009lx5z peter owl:Class HP:0033051 biolink:NamedThing Impaired executive functioning A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia. hp0009lx5z peter owl:Class HP:0009203 biolink:NamedThing Absent epiphysis of the middle phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger. hp0009lx5z Absent end part of the middle bone of the little finger|Absent end part of the middle bone of the pinky finger|Absent end part of the middle bone of the pinkie finger doelkens 2009-01-05T05:22:18Z UMLS:C4024537 human_phenotype owl:Class HP:0009382 biolink:NamedThing Absent epiphyses of the 5th finger Absence of one or more epiphyses of the 5th finger. hp0009lx5z Absent end part of pinky finger bone|Absent end part of pinkie finger bone|Absent end part of little finger bone doelkens 2009-01-13T01:19:03Z UMLS:C4024407 human_phenotype owl:Class HP:0000056 biolink:NamedThing Abnormality of the clitoris An abnormality of the clitoris. hp0009lx5z Abnormality of the clit UMLS:C4025893 human_phenotype owl:Class HP:0000055 biolink:NamedThing Abnormality of female external genitalia An abnormality of the female external genitalia. hp0009lx5z Abnormal female external genitalia UMLS:C4021822 human_phenotype owl:Class HP:0030270 biolink:NamedThing Elevated red cell adenosine deaminase level Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. hp0009lx5z UMLS:C4022547 owl:Class HP:0030272 biolink:NamedThing Abnormal erythrocyte enzyme level An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. hp0009lx5z UMLS:C4022545 owl:Class HP:0041149 biolink:NamedThing Fractured navicular bone of pes A partial or complete breakage of the navicular bone of pes. hp0009lx5z bone navicular bone of pes owl:Class HP:0041247 biolink:NamedThing Fractured tarsal bone A partial or complete breakage of the tarsal bone. hp0009lx5z bone tarsal bone owl:Class HP:0100906 biolink:NamedThing Sclerosis of the middle phalanx of the 4th finger hp0009lx5z Increased bone density in the middle bone of the ring finger UMLS:C4021936 human_phenotype owl:Class HP:0100916 biolink:NamedThing Sclerosis of middle finger phalanx An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Sclerosis of the middle phalanges of the hand|Increased bone density in middle finger bone of hand UMLS:C4020939 human_phenotype owl:Class HP:0012139 biolink:NamedThing Granulocytic hypoplasia Decreased number of granulocyte precursors in the bone marrow. hp0009lx5z peter 2012-09-16T08:09:56Z SNOMEDCT_US:416627004|UMLS:C1534864 human_phenotype owl:Class HP:0012137 biolink:NamedThing Abnormal number of granulocyte precursors hp0009lx5z peter 2012-09-16T08:09:13Z UMLS:C4023029 human_phenotype owl:Class HP:0031864 biolink:NamedThing Bacteremia Presence of viable bacteria in the blood. hp0009lx5z 2018-05-05 21:13:44+00:00 peter owl:Class HP:0031863 biolink:NamedThing Bloodstream infectious agent The presence of an infectious agent in the blood circulation. hp0009lx5z 2018-05-05 21:12:23+00:00 Infectious agents can be classified into five groups: viruses, bacteria, fungi, protozoa, and helminths (worms). peter owl:Class HP:0032091 biolink:NamedThing Translamellar aortic medial fibrosis A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units. hp0009lx5z 2018-10-14 15:08:22+00:00 peter owl:Class HP:0032089 biolink:NamedThing Aortic medial fibrosis An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units). hp0009lx5z 2018-10-14 15:05:54+00:00 peter owl:Class HP:0012128 biolink:NamedThing Basal ganglia necrosis Death of cells in the basal ganglia. hp0009lx5z hecht 2012-09-16T07:00:22Z UMLS:C4023035 human_phenotype owl:Class HP:0002134 biolink:NamedThing Abnormality of the basal ganglia Abnormality of the basal ganglia. hp0009lx5z Basal ganglia disease|Anomaly of the basal ganglia The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. HP:0006952|HP:0007257 MSH:D001480|SNOMEDCT_US:70835005|UMLS:C0004782 human_phenotype owl:Class HP:0003275 biolink:NamedThing Narrow pelvis bone Reduced side to side width of the pelvis. hp0009lx5z Narrow pelvis|Narrow pelvis bone UMLS:C1848103 human_phenotype owl:Class HP:0040163 biolink:NamedThing Abnormal pelvis bone morphology hp0009lx5z Abnormal shape of pelvis bone UMLS:C4073132 owl:Class HP:0030194 biolink:NamedThing Fatigable weakness of speech muscles A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. hp0009lx5z UMLS:C4022589 owl:Class HP:0030192 biolink:NamedThing Fatigable weakness of bulbar muscles A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. hp0009lx5z UMLS:C4022591 owl:Class HP:0100250 biolink:NamedThing Meningeal calcification Calcium deposition affecting the Meninges. hp0009lx5z In general, meningeal calcifications are plaque-like and bilateral as seen on CT-scans. doelkens 2010-07-14T03:41:34Z UMLS:C4022181 human_phenotype owl:Class HP:0410401 biolink:NamedThing Worse in evening Applies to a sign or symptom that is exacerbated in the evening as compared to the day. hp0009lx5z owl:Class HP:0010023 biolink:NamedThing Small epiphysis of the 1st metacarpal Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms. hp0009lx5z Small end part of the 1st long bone of hand doelkens 2009-05-27T04:02:50Z UMLS:C4024100 human_phenotype owl:Class HP:0040080 biolink:NamedThing Anteverted ears hp0009lx5z HPO:skoehler UMLS:C1857055 owl:Class HP:0000357 biolink:NamedThing Abnormal location of ears Abnormal location of the ear. hp0009lx5z Abnormal location of ears|External ear position defect UMLS:C4021810 human_phenotype owl:Class HP:0040310 biolink:NamedThing Sterile arthritis An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures. hp0009lx5z This form of arthritis is termed 'sterile' because bacetriology returns negative results even though the clinical presentation resembles that of infectious arthritis. ORCID:0000-0002-5316-1399 owl:Class HP:0001369 biolink:NamedThing Arthritis Inflammation of a joint. hp0009lx5z Arthritis|Joint inflammation SNOMEDCT_US:3723001|MSH:D001168|UMLS:C0003864 human_phenotype owl:Class HP:0000391 biolink:NamedThing Thickened helices Increased thickness of the helix of the ear. hp0009lx5z Thick helix UMLS:C1837732 human_phenotype owl:Class HP:0032509 biolink:NamedThing Onychotillomania Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails. hp0009lx5z 2019-05-23 23:17:34+00:00 Onychotillomania is not to be confused with onychophagia which is self-induced damage to nails caused by nail biting. peter owl:Class HP:0032864 biolink:NamedThing Focal aware sensory seizure with auditory features A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure. hp0009lx5z This type of seizure is characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones. More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe. peter owl:Class HP:0011158 biolink:NamedThing Focal sensory seizure with auditory features A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. hp0009lx5z Auditory aura|Partial auditory seizure|Focal sensory auditory seizure|Focal auditory seizure More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe. peter 2011-10-18T02:26:59Z UMLS:C1838063 human_phenotype owl:Class HP:0011647 biolink:NamedThing Postductal coarctation of the aorta Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch. hp0009lx5z Postductal aortic coarctation Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. peter 2012-04-09T09:49:36Z UMLS:C0265879|SNOMEDCT_US:72242008 human_phenotype owl:Class HP:0012305 biolink:NamedThing Coarctation of the descending aortic arch Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta. hp0009lx5z peter 2013-08-06T10:34:15Z UMLS:C4022958 human_phenotype owl:Class HP:0100554 biolink:NamedThing Hemihypertrophy of upper limb Overgrowth of only one arm. hp0009lx5z Overgrowth of one arm doelkens 2010-12-21T03:58:55Z UMLS:C0431810|SNOMEDCT_US:253920006 human_phenotype owl:Class HP:0100560 biolink:NamedThing Upper limb asymmetry Difference in length or size between the right and left arm. hp0009lx5z Unequal size of arms doelkens 2010-12-21T04:04:56Z UMLS:C4022024 human_phenotype owl:Class HP:0002524 biolink:NamedThing Cataplexy A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. hp0009lx5z Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. HP:0002525|HP:0002428 MSH:D002385|UMLS:C0007384|SNOMEDCT_US:46263000 owl:Class HP:0030686 biolink:NamedThing Increased adiponectin level An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. hp0009lx5z UMLS:C4073128 owl:Class HP:0030684 biolink:NamedThing Abnormal adiponectin level A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism. hp0009lx5z Lower circulating adiponectin levels is associated with obesity and negatively correlated with insulin resistance. Adiponectin may exert antidiabetic, anti-atherogenic and anti-inflammatory activities in metabolic diseases. UMLS:C4073126 owl:Class HP:0012564 biolink:NamedThing Premature epimetaphyseal fusion in tibia Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. hp0009lx5z peter 2014-01-04T02:07:34Z UMLS:C4022842 human_phenotype owl:Class HP:0010588 biolink:NamedThing Premature epimetaphyseal fusion Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. hp0009lx5z Premature closure of epiphyses The epiphysis is the rounded end of a long bone, at its joint with adjacent bone. sandra1 2009-10-22T02:53:19Z UMLS:C0151628|SNOMEDCT_US:89493005 human_phenotype owl:Class HP:0008271 biolink:NamedThing Abnormal cartilage collagen Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. hp0009lx5z Abnormal type II collagen|Abnormal hyaline collagen UMLS:C4020803|UMLS:C4020804|UMLS:C4021847 human_phenotype owl:Class HP:0002763 biolink:NamedThing Abnormal cartilage morphology Any morphological abnormality of cartilage. hp0009lx5z Abnormality of cartilage morphology|Abnormal shape of cartilage HP:0410007 UMLS:C4025680 human_phenotype owl:Class HP:0000988 biolink:NamedThing Skin rash A red eruption of the skin. hp0009lx5z Skin rash|Rash SNOMEDCT_US:112625008|UMLS:C0015230|SNOMEDCT_US:271807003|MSH:D005076|MEDDRA:10037844 owl:Class HP:0030163 biolink:NamedThing Abnormal vascular physiology Abnormality of vascular function. hp0009lx5z UMLS:C4022603 owl:Class HP:0031535 biolink:NamedThing Increased theta frequency activity in EEG Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution. hp0009lx5z 2017-09-24 01:03:08+00:00 peter owl:Class HP:0033419 biolink:NamedThing Elevated circulating 3-hydroxybutyric acid concentration Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range. hp0009lx5z 2021-01-09 17:23:23+00:00 peter owl:Class HP:0033417 biolink:NamedThing Elevated circulating hydroxybutyric acid concentration An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent. hp0009lx5z 2021-01-09 17:19:59+00:00 peter owl:Class HP:0012347 biolink:NamedThing Abnormal protein N-linked glycosylation An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. hp0009lx5z Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signalling. peter 2013-09-15T09:29:59Z UMLS:C4022944 human_phenotype owl:Class HP:0000871 biolink:NamedThing Panhypopituitarism A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). hp0009lx5z SNOMEDCT_US:32390006|UMLS:C0242343|MSH:C580003 human_phenotype owl:Class HP:0010118 biolink:NamedThing Irregular epiphyses of the hallux hp0009lx5z Irregular end part of big toe bone doelkens 2009-05-29T01:16:38Z UMLS:C4024041 human_phenotype owl:Class HP:0031351 biolink:NamedThing Calcified amorphous tumor of the heart A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue. hp0009lx5z Calcified amorphous tumour of the heart 2017-08-27 14:28:56+00:00 peter owl:Class HP:0100544 biolink:NamedThing Neoplasm of the heart A tumor (abnormal growth of tissue) of the heart. hp0009lx5z Cardiac neoplasm|Heart tumour|Cardiac neoplasia|Heart tumor doelkens 2010-12-20T07:00:31Z NCIT:C3262|SNOMEDCT_US:387842002|MSH:D006338|UMLS:C0018809 owl:Class HP:0009536 biolink:NamedThing Short 2nd finger Hypoplasia of the second finger, also known as the index finger. hp0009lx5z Hypoplastic/small index finger|Short index finger phalanges|Short index finger|Hypoplastic index finger phalanges|Short index fingers doelkens 2009-01-19T04:18:22Z HP:0004104|HP:0004113|HP:0004115|HP:0005796 UMLS:C1862142 human_phenotype owl:Class HP:0006264 biolink:NamedThing Aplasia/Hypoplasia of the 2nd finger A small/hypoplastic or absent/aplastic 2nd finger. hp0009lx5z Absent/small index finger|Absent/underdeveloped index finger peter 2008-03-28T03:06:00Z UMLS:C4025072 human_phenotype owl:Class HP:0006261 biolink:NamedThing Abnormal phalangeal joint morphology of the hand hp0009lx5z Abnormality of phalangeal joints of the hand|Abnormality of the small joints of the hand peter 2008-03-28T02:55:00Z HP:0004266 UMLS:C4021604 human_phenotype owl:Class HP:0033094 biolink:NamedThing Increased urine glutamate level An increased concentration of glutamate in the urine. hp0009lx5z Increased glutamic acid in urine peter owl:Class HP:0033093 biolink:NamedThing Increased glutamine family amino acid level in urine An elevated level of an glutamine family amino acid in the urine. hp0009lx5z peter owl:Class HP:0200098 biolink:NamedThing Absent skin pigmentation Lack of skin pigmentation (coloring). hp0009lx5z Lack of skin coloration|Absent skin pigmentation sebastiankohler 2013-06-05T10:22:18Z UMLS:C2673954 human_phenotype owl:Class HP:0001010 biolink:NamedThing Hypopigmentation of the skin A reduction of skin color related to a decrease in melanin production and deposition. hp0009lx5z Patchy lightened skin|Hypopigmentation|Hypopigmented skin|Skin hypopigmentation HP:0007622|HP:0007604|HP:0005589 SNOMEDCT_US:89031001|MSH:D017496|SNOMEDCT_US:201284005|SNOMEDCT_US:18655006|SNOMEDCT_US:23006000|UMLS:C0162835 human_phenotype owl:Class HP:0030737 biolink:NamedThing Altman type I sacrococcygeal teratoma A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks. hp0009lx5z UMLS:C4280795 owl:Class HP:0100468 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 4th toe Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Uneven increase in bone density in the outermost bone of the 4th toe UMLS:C4022059 human_phenotype owl:Class HP:0100941 biolink:NamedThing Sclerosis of the distal phalanx of the 4th toe hp0009lx5z Increased bone density in the outermost bone of the 4th toe UMLS:C4021917 human_phenotype owl:Class HP:0006466 biolink:NamedThing Ankle flexion contracture A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. hp0009lx5z Ankle contracture|Contractures of the ankles|Ankle contractures HP:0006403|HP:0004985 UMLS:C1837407 human_phenotype owl:Class HP:0005750 biolink:NamedThing Contractures of the joints of the lower limbs hp0009lx5z Contractures, lower limbs UMLS:C1859523 human_phenotype owl:Class HP:0002292 biolink:NamedThing Frontal balding Absence of hair in the anterior midline and/or parietal areas. hp0009lx5z Frontal balding|Male pattern baldness UMLS:C4083212|UMLS:C1864584|SNOMEDCT_US:87872006|MSH:D000505 human_phenotype owl:Class HP:0033037 biolink:NamedThing Migratory arthritis hp0009lx5z Migratory polyarthritis A form of arthritis characterized by gradual involvement of several joints, with involvement of some joints occurring following partial or full resolution of arthritis in joints with an earlier onset. peter owl:Class HP:0031385 biolink:NamedThing Megakaryocyte nucleus hypolobulation The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. hp0009lx5z 2017-09-02 16:33:22+00:00 Megakaryocytes with a hypolobulated nucleus can be seen in normal bone marrow but numbers are increased in some patients with myelodysplastic syndrome. peter owl:Class HP:0040031 biolink:NamedThing Chorioretinal hyperpigmentation hp0009lx5z HPO:skoehler UMLS:C4022482 owl:Class HP:0041042 biolink:NamedThing Absent neutrophil lactoferrin The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production. hp0009lx5z owl:Class HP:0012551 biolink:NamedThing Absent neutrophil specific granules Lack of specific granules in neutrophils. hp0009lx5z Neutrophil polymorphonuclear leukocytes (PMNs) contain two principal types of granules. Azurophil granules appear early in neutrophil development and contain lysosomal enzymes, lysozyme, and myeloperoxidase (MPO). Specific granules are formed later, lack MPO and hydrolases, but contain lactoferrin and the remainder of the cell's complement of lysozyme. Consequently, specific granules may be conveniently detected at the electron-microscopic (EM) level by the cytochemical demonstration of their lack of MPO, while at the optical level their presence can be inferred from their positive immunocytochemical staining for lactoferrin with the use of specific antiserums. peter 2014-01-01T03:32:09Z UMLS:C4022852 human_phenotype owl:Class HP:0000274 biolink:NamedThing Small face A face that is short (HP:0011219) and narrow (HP:0000275). hp0009lx5z Microface|Facial hypoplasia|Small face|Small facies|Microfacies|Short and narrow face|Hypoplasia of face This term represents a combination of two terms, short face and narrow face. UMLS:C1855538 human_phenotype owl:Class HP:0008240 biolink:NamedThing Secondary growth hormone deficiency hp0009lx5z UMLS:C4024716 owl:Class HP:0000824 biolink:NamedThing Decreased response to growth hormone stimuation test Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. hp0009lx5z Somatotropin deficiency|Growth hormone deficiency GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. HP:0000861|HP:0008195|HP:0008206 UMLS:C3714796|SNOMEDCT_US:2109003 owl:Class HP:0100642 biolink:NamedThing Neoplasm of the adrenal medulla The presence of a neoplasm of the adrenal medulla. hp0009lx5z Medullar adrenal neoplasia doelkens 2010-12-29T05:54:15Z UMLS:C0596046|NCIT:C3262|SNOMEDCT_US:127023007 human_phenotype owl:Class HP:0100631 biolink:NamedThing Neoplasm of the adrenal gland A tumor (abnormal growth of tissue) of the adrenal gland. hp0009lx5z Adrenal neoplasia doelkens 2010-12-29T02:27:47Z SNOMEDCT_US:127021009|NCIT:C3262|UMLS:C0001624|MSH:D000310 owl:Class HP:0100405 biolink:NamedThing Duplication of the proximal phalanx of the 4th toe Partial or complete duplication of the proximal phalanx of fourth toe. hp0009lx5z Duplication of the innermost 4th toe bone|Duplication of the proximal phalanx of the fourth toe|Partial/complete duplication of the proximal phalanx of the 4th toe UMLS:C4020992 human_phenotype owl:Class HP:0010379 biolink:NamedThing Duplication of phalanx of the 4th toe Partial or complete duplication of phalanx of fourth toe. hp0009lx5z Duplication of phalanx of the fourth toe|Partial/complete duplication of the phalanges of the 4th toe|Duplication of 4th toe bone doelkens 2009-07-16T11:51:46Z UMLS:C4021278 human_phenotype owl:Class HP:0009270 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger. hp0009lx5z Speckled calcifications in end part of the innermost bone of ring finger doelkens 2009-01-07T12:12:59Z UMLS:C4024479 human_phenotype owl:Class HP:0009248 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 4th finger hp0009lx5z Abnormality of the end part of the innermost bone of the ring finger doelkens 2009-01-07T12:04:09Z UMLS:C4024499 human_phenotype owl:Class HP:0003358 biolink:NamedThing Elevated intracellular cystine An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. hp0009lx5z Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond. UMLS:C4025623 human_phenotype owl:Class HP:0041089 biolink:NamedThing Avulsion fractured tibia A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma. hp0009lx5z owl:Class HP:0011631 biolink:NamedThing Complete right sided absence of pericardium No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy. hp0009lx5z peter 2012-04-08T10:08:42Z UMLS:C4023258 human_phenotype owl:Class HP:0011628 biolink:NamedThing Congenital defect of the pericardium A developmental defect of the pericardium with congenital onset. hp0009lx5z peter 2012-04-08T10:05:20Z UMLS:C4023261 owl:Class HP:0002263 biolink:NamedThing Exaggerated cupid's bow More pronounced paramedian peaks and median notch of the Cupid's bow. hp0009lx5z Prominent cupid-bow of upper lip|Cupid's bow, accentuated|Cupid-bow shaped upper lip|Cupid bow upper lip|Exaggerated cupid's bow This may be associated with a Deep philtrum, but that finding should be coded separately. UMLS:C1850629 human_phenotype owl:Class HP:0007873 biolink:NamedThing Abnormally prominent line of Schwalbe hp0009lx5z Prominent Schwalbe lines HP:0007940 UMLS:C1862376 human_phenotype owl:Class HP:0008048 biolink:NamedThing Abnormality of the line of Schwalbe An abnormality of the line of Schwalbe. hp0009lx5z Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer. peter 2008-04-02T12:12:00Z UMLS:C4021856 human_phenotype owl:Class HP:0031122 biolink:NamedThing Two-raphe bicuspid aortic valve A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis. hp0009lx5z 2017-06-10 12:06:51+00:00 peter owl:Class HP:0001647 biolink:NamedThing Bicuspid aortic valve The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). hp0009lx5z Aortic valve has two leaflets rather than three A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036]. UMLS:C0149630|MSH:C562388|SNOMEDCT_US:72352009 human_phenotype owl:Class HP:0008371 biolink:NamedThing Abnormal metatarsal ossification Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years. hp0009lx5z Abnormal ossification involving metatarsal bones|Abnormal maturation of long bone of foot peter 2008-04-04T11:59:00Z UMLS:C4021543 human_phenotype owl:Class HP:0011194 biolink:NamedThing EEG with series of focal spikes Focal spikes occurring for several seconds. hp0009lx5z hecht 2011-11-19T10:51:41Z UMLS:C4023480 human_phenotype owl:Class HP:4000003 biolink:NamedThing Elevated myocardial native T2 Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema. hp0009lx5z 2021-04-24 14:32:56+00:00 robinp owl:Class HP:4000001 biolink:NamedThing Abnormal cardiac magnetic resonance imaging finding Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately. hp0009lx5z 2021-04-24 14:23:59+00:00 robinp owl:Class HP:0010892 biolink:NamedThing Abnormal circulating branched chain amino acid concentration Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. hp0009lx5z peter 2010-11-11T02:53:04Z UMLS:C4023673 human_phenotype owl:Class HP:0032320 biolink:NamedThing Affected This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband). hp0009lx5z 2019-02-14 11:47:51+00:00 peter owl:Class HP:0032319 biolink:NamedThing Health status Health status of a family member with respect to the disease being investigated in a proband. hp0009lx5z 2019-02-14 11:46:18+00:00 peter owl:Class HP:0032745 biolink:NamedThing Focal aware emotional seizure with laughing Focal emotional seizure with laughing in which awareness is retained throughout. hp0009lx5z peter owl:Class HP:0010821 biolink:NamedThing Focal emotional seizure with laughing Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. hp0009lx5z Gelastic seizures|Gelastic seizure This seizure type is characteristic of seizures arising in the hypothalamus (see hypothalamic hamartoma), but can occur in seizures arising in the frontal or temporal lobes. peter 2010-07-10T03:27:12Z MSH:D004828|UMLS:C0270820|SNOMEDCT_US:89525009 human_phenotype owl:Class HP:0041198 biolink:NamedThing Fractured proximal epiphysis of middle phalanx of manual digit 3 A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3. hp0009lx5z bone proximal epiphysis of middle phalanx of manual digit 3 owl:Class HP:0009325 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 3rd finger Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger. hp0009lx5z Fragmentation of end part of the middle bone of the middle finger doelkens 2009-01-12T11:15:44Z UMLS:C4024440 human_phenotype owl:Class HP:0003740 biolink:NamedThing Myotonia with warm-up phenomenon Myotonia that occurs after a period of rest and decreases with continuing exercise. hp0009lx5z UMLS:C4025575 human_phenotype owl:Class HP:0010314 biolink:NamedThing Premature thelarche Premature development of the breasts. hp0009lx5z Premature breast development peter 2009-07-12T02:36:24Z SNOMEDCT_US:102889008|UMLS:C0425772 human_phenotype owl:Class HP:0000826 biolink:NamedThing Precocious puberty The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. hp0009lx5z Early puberty|Early onset of puberty MSH:D011629|SNOMEDCT_US:123527003|UMLS:C0034013|SNOMEDCT_US:400179000 human_phenotype owl:Class HP:0008765 biolink:NamedThing Auditory hallucinations The false perception of sound. hp0009lx5z Hallucinations of sound|Hearing sounds HP:0000714 UMLS:C0233762|MSH:D006212|SNOMEDCT_US:45150006 owl:Class HP:0041192 biolink:NamedThing Fractured epiphysis of fourth metacarpal bone A partial or complete breakage of the epiphysis of fourth metacarpal bone. hp0009lx5z bone epiphysis of fourth metacarpal bone owl:Class HP:0010224 biolink:NamedThing Abnormality of the epiphysis of the 4th metacarpal Any abnormality of the epiphysis of the 4th metacarpal bone. hp0009lx5z Abnormality of the end part of the 4th long bone of hand doelkens 2009-07-02T04:11:46Z UMLS:C4023960 human_phenotype owl:Class HP:0002728 biolink:NamedThing Chronic mucocutaneous candidiasis Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. hp0009lx5z Chronic candidiasis of mucosa, skin and nails|Mucocutaneous candidiasis The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders. HP:0005392 UMLS:C0006845|MSH:D002178|SNOMEDCT_US:234568006 human_phenotype owl:Class HP:0011370 biolink:NamedThing Recurrent cutaneous fungal infections Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections. hp0009lx5z peter 2012-03-03T10:34:52Z UMLS:C4023394 human_phenotype owl:Class HP:0100592 biolink:NamedThing Peritoneal abscess The presence of an abscess of the peritoneum. hp0009lx5z doelkens 2010-12-27T04:30:53Z UMLS:C0267756|SNOMEDCT_US:73962000 human_phenotype owl:Class HP:0002585 biolink:NamedThing Abnormality of the peritoneum An abnormality of the peritoneum. hp0009lx5z The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs. UMLS:C4025698 human_phenotype owl:Class HP:0001042 biolink:NamedThing High axial triradius hp0009lx5z UMLS:C4025806 human_phenotype owl:Class HP:0001018 biolink:NamedThing Abnormal palmar dermatoglyphics An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. hp0009lx5z UMLS:C4025810 human_phenotype owl:Class HP:0006339 biolink:NamedThing Conical mandibular incisor An abnormal conical morphology of the primary or permanent mandibular incisors. hp0009lx5z Cone shaped lower front tooth|Peg shaped mandibular incisor|Conoid mandibular incisor|Lower front shark tooth|Pointed mandibular incisors|Pointed mandibular incisor|Peg shaped lower front tooth UMLS:C4020818|UMLS:C4280449|UMLS:C4280450 human_phenotype owl:Class HP:0011065 biolink:NamedThing Conical incisor An abnormal conical morphology of the incisor tooth. hp0009lx5z Shark tooth incisor|Peg-shaped incisors|Peg shaped incisors|Cone shaped front tooth|Pointed incisor|Peg shaped front tooth|Conoid incisor|Pointed front tooth Conical incisors are incisors that are round in cross-sectional views of the crown or that have a rounded appearance. Conical incisors may have a pointed shape that tapers to a point at the tip of the tooth. One speaks of conical incisor for a conical shaped tooth that is located in the region where incisors normally are. peter 2011-03-10T02:14:34Z HP:0006345|HP:0011066|HP:0000673 UMLS:C4020759|UMLS:C4280341|UMLS:C1856136|UMLS:C4280342 owl:Class HP:0030061 biolink:NamedThing Neuroectodermal neoplasm A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. hp0009lx5z UMLS:C0206093|SNOMEDCT_US:253096008|MSH:D017599|SNOMEDCT_US:73676002 owl:Class HP:0030060 biolink:NamedThing Nervous tissue neoplasm A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system). hp0009lx5z UMLS:C0027665|MSH:D009380 owl:Class HP:0032996 biolink:NamedThing Abnormal cystatin C level Any deviation from the normal concentration of cystatin C in serum or plasma. hp0009lx5z The cysteine protease inhibitor cystatin C is thought to be secreted by most cells and eliminated in the kidneys, so its concentration in plasma is diagnostic of kidney function. peter owl:Class HP:0032431 biolink:NamedThing Decreased HDL3b concentration A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. hp0009lx5z 2019-03-02 13:51:15+00:00 peter owl:Class HP:0032426 biolink:NamedThing Abnormal HDL3b concentration Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. hp0009lx5z 2019-03-02 13:49:05+00:00 peter owl:Class HP:0009602 biolink:NamedThing Abnormality of thumb phalanx A structural anomaly of one or more phalanges of the thumb. hp0009lx5z Abnormality of thumb phalanges|Abnormality of the thumb bones doelkens 2009-01-29T01:10:39Z HP:0004063|HP:0004064 UMLS:C4021428 human_phenotype owl:Class HP:0009737 biolink:NamedThing Lisch nodules The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. hp0009lx5z Iris hamartomas peter 2009-01-31T11:45:04Z UMLS:C1860334 human_phenotype owl:Class HP:0010568 biolink:NamedThing Hamartoma of the eye A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye. hp0009lx5z sandra1 2009-10-17T12:57:24Z UMLS:C4023788 human_phenotype owl:Class HP:0000998 biolink:NamedThing Hypertrichosis Hypertrichosis is increased hair growth that is abnormal in quantity or location. hp0009lx5z Increased hair growth on body|Excessive hair growth SNOMEDCT_US:29966009|MSH:D006983|SNOMEDCT_US:271607001|UMLS:C0020555 human_phenotype owl:Class HP:0033254 biolink:NamedThing Anorectal stricture Narrowing of the anorectum associated with inflammation or scar tissue. hp0009lx5z Stricture of the anorectum 2020-11-27 19:30:05+00:00 peter owl:Class HP:0012732 biolink:NamedThing Anorectal anomaly An abnormality of the anus or rectum. hp0009lx5z peter 2014-03-23T02:48:00Z MSH:D000071056|UMLS:C3495676|SNOMEDCT_US:33225004 human_phenotype owl:Class HP:0009625 biolink:NamedThing Contractures of the metacarpophalangeal joint of the thumb Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis. hp0009lx5z doelkens 2009-01-29T04:52:18Z UMLS:C2108151 human_phenotype owl:Class HP:0012098 biolink:NamedThing Edema of the dorsum of feet An abnormal accumulation of fluid beneath the skin on the back of the feet. hp0009lx5z Oedema of dorsum of feet|Edema of dorsum of feet|Oedema of the dorsum of feet peter 2012-08-20T09:33:33Z UMLS:C2919341|SNOMEDCT_US:445124008 human_phenotype owl:Class HP:0100862 biolink:NamedThing Aplasia of the femoral head hp0009lx5z Absent femoral head doelkens 2011-11-30T10:47:46Z UMLS:C4021950 human_phenotype owl:Class HP:0040052 biolink:NamedThing Abnormality of lower eyelashes hp0009lx5z Abnormality of lower eyelashes HPO:skoehler UMLS:C4022466 owl:Class HP:0032990 biolink:NamedThing Localized pulmonary hemorrhage Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder. hp0009lx5z Localised pulmonary haemorrhage peter owl:Class HP:0000292 biolink:NamedThing Loss of facial adipose tissue Loss of normal subcutaneous fat tissue in the face. hp0009lx5z Decreased volume of facial adipose tissue|Decreased amount of facial adipose tissue|Decreased amount of facial fat|Loss of subcutaneous adipose tissue from face|Loss of facial fat|Loss of facial subcutaneous adipose tissue UMLS:C1837767 human_phenotype owl:Class HP:0008887 biolink:NamedThing Adipose tissue loss A loss of adipose tissue. hp0009lx5z Loss of fat tissue HP:0008938 UMLS:C4024615 human_phenotype owl:Class HP:0011452 biolink:NamedThing Functional abnormality of the middle ear An abnormality of the function of the middle ear. hp0009lx5z Functional abnormality of the middle ear The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube. peter 2012-03-19T09:33:03Z UMLS:C4021846 human_phenotype owl:Class HP:0000370 biolink:NamedThing Abnormality of the middle ear An abnormality of the middle ear. hp0009lx5z Middle ear abnormality|Middle ear abnormalities UMLS:C1861141 human_phenotype owl:Class HP:0008730 biolink:NamedThing Female external genitalia in individual with 46,XY karyotype The presence of female external genitalia in a person with a male karyotype. hp0009lx5z Males with female external genitalia HP:0008719 UMLS:C1848178 human_phenotype owl:Class HP:0000032 biolink:NamedThing Abnormality of male external genitalia An abnormality of male external genitalia. hp0009lx5z UMLS:C4025897 owl:Class HP:0000765 biolink:NamedThing Abnormal thorax morphology Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). hp0009lx5z Abnormality of the thorax|Abnormality of the chest|Structural abnormality of the chest wall HP:0100655 UMLS:C4021797 owl:Class HP:0009121 biolink:NamedThing Abnormal axial skeleton morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. hp0009lx5z Abnormality of the axial skeleton peter 2008-04-05T11:16:00Z UMLS:C4020785|UMLS:C4024586 human_phenotype owl:Class HP:0006456 biolink:NamedThing Irregular proximal tibial epiphyses Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. hp0009lx5z Irregular innermost shinbone end part|Irregular innermost shankbone end part UMLS:C4025045 human_phenotype owl:Class HP:0010591 biolink:NamedThing Abnormality of the proximal tibial epiphysis Any abnormality of the proximal epiphysis of the tibia. hp0009lx5z Abnormality of the end part of innermost shankbone|Abnormality of the end part of innermost shinbone sandra1 2009-10-22T03:03:04Z UMLS:C4023782 human_phenotype owl:Class HP:0100912 biolink:NamedThing Sclerosis of the distal phalanx of the thumb An elevation of bone density in the distal phalanx of the thumb. hp0009lx5z Increased bone density in the outermost bone of the thumb Sclerosis can be identified on a radiograph as an area of increased opacity. UMLS:C4021930 human_phenotype owl:Class HP:0100922 biolink:NamedThing Sclerosis of thumb phalanx hp0009lx5z Sclerosis of the phalanges of the thumb|Increased bone density in thumb bone UMLS:C4020933 human_phenotype owl:Class HP:0006494 biolink:NamedThing Aplasia/Hypoplasia involving bones of the feet hp0009lx5z Absent/underdeveloped foot bones|Absent/small foot bones peter 2008-03-28T06:08:00Z UMLS:C4025036 human_phenotype owl:Class HP:0041083 biolink:NamedThing Fractured phalanx A partial or complete breakage of the phalanx. hp0009lx5z bone phalanx owl:Class HP:0031948 biolink:NamedThing Snowball lesion of corpus callosum Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome. hp0009lx5z 2018-07-06 12:16:20+00:00 peter owl:Class HP:4000036 biolink:NamedThing Encysted hydrocele of the cord A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it. hp0009lx5z 2021-05-02 20:07:50+00:00 robinp owl:Class HP:0000034 biolink:NamedThing Hydrocele testis Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. hp0009lx5z Testicular hydrocele|Hydrocele UMLS:C1720771|SNOMEDCT_US:386152007|MSH:D006848|SNOMEDCT_US:26614003|SNOMEDCT_US:55434001 owl:Class HP:0025416 biolink:NamedThing Vaginal stricture A narrowing of the vagina owing to scar formation. hp0009lx5z 2017-04-23 11:24:25+00:00 HPO:probinson owl:Class HP:0033864 biolink:NamedThing Abnormal medullary peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the medulla of the kidney. hp0009lx5z 2021-06-23 17:46:31+00:00 peter owl:Class HP:0025439 biolink:NamedThing Pharyngitis Inflammation (due to infection or irritation) of the pharynx. hp0009lx5z 2017-04-24 00:03:24+00:00 HPO:probinson owl:Class HP:0033151 biolink:NamedThing Abnormal pharynx morphology A structural anomaly of the pharynx. hp0009lx5z 2020-09-20 11:17:40+00:00 peter owl:Class HP:0009513 biolink:NamedThing Absent epiphysis of the middle phalanx of the 2nd finger hp0009lx5z Absent epiphyses of middle phalanx of index finger|Missing end part of the middle long bone of the index finger doelkens 2009-01-16T01:12:17Z HP:0004136 UMLS:C4021459 human_phenotype owl:Class HP:0009488 biolink:NamedThing Absent epiphyses of the 2nd finger Absence of the epiphyses of the 2nd finger. hp0009lx5z Absent end part of index finger doelkens 2009-01-16T01:07:16Z UMLS:C4024336 human_phenotype owl:Class HP:0003130 biolink:NamedThing Abnormal peripheral myelination An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. hp0009lx5z This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011). HP:0003408 UMLS:C4025648 human_phenotype owl:Class HP:0032693 biolink:NamedThing Focal cognitive seizure with neglect A focal cognitive seizure characterized by neglect as the initial semiological manifestation. hp0009lx5z Neglect is unilateral failure to report or respond to stimuli presented contralaterally. peter owl:Class HP:0009576 biolink:NamedThing Absent middle phalanx of 2nd finger Absence of the middle phalanx of the index (2nd) finger. hp0009lx5z Aplasia of the middle phalanx of the 2nd finger|Absent middle phalanx of index finger|Absent middle bone of index finger doelkens 2009-01-28T05:15:55Z HP:0005760 UMLS:C4021436 human_phenotype owl:Class HP:0009568 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 2nd finger hp0009lx5z Absent/small middle index finger bone|Absent/hypoplastic middle phalanx of 2nd finger|Absent/underdeveloped middle index finger bone|Hypoplastic/aplastic middle phalanx of index finger doelkens 2009-01-28T05:10:24Z HP:0006221 UMLS:C1862144 human_phenotype owl:Class HP:0100600 biolink:NamedThing Penoscrotal transposition A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis. hp0009lx5z Prepenile scrotum doelkens 2010-12-27T05:19:57Z SNOMEDCT_US:312005008|MSH:C536650|UMLS:C1868854 owl:Class HP:0000036 biolink:NamedThing Abnormal penis morphology Abnormality of the male external sex organ. hp0009lx5z Abnormality of the penis UMLS:C4025896 owl:Class HP:0010583 biolink:NamedThing Ivory epiphyses Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density in end part of bone|Epiphyseal sclerosis sandra1 2009-10-22T02:53:19Z UMLS:C1856911 human_phenotype owl:Class HP:0025632 biolink:NamedThing Reduced reactive oxygen species production in neutrophils An abnormal reduction in the amount of reactive oxygen produced by neutrophils in the respiratory burst. hp0009lx5z 2019-04-09 01:36:43+00:00 Polymorphonuclear neutrophils comprise more than 60% ofthe circulating white blood cells in humans. They have a central role in innate immunity and they regulate adaptive immunity. In healthy individuals, circulating neutrophils are freely flowing in a resting, dormant state. Upon infection, neutrophils are the first circulating cells to arrive at the infection and inflammatory site. Phagocytosis triggers the activation program of the neutrophils, leading to the intraphagosomal release of antibacterial peptides, proteases, myeloperoxidase, and superoxide anion (O2-), which is produced via the activation of the NADPH oxidase. Superoxide anion is the initiating spark leading to the generation of reactive oxygen species (ROS), i.e., hydrogen peroxide (H2O2), hydroxylradical and hypochlorous acid (HOCl), all contributing to the death and destruction of the bacteria within the phagosome. ROS production by the phagocytes was first referred as the respiratory burst or oxidative burst due to the rapid and cyanide-insensitive increase in oxygen uptake, increase in glucose consumption, andimmediate ROS release. The enzyme system dedicated to superoxide anion production, i.e., the phagocyte NADPH oxidase, a member of the NOX family of proteins also referred as NOX2, is composed of six proteins, two trans-membrane proteins (p22phox and gp91phox) that form theflavocytochrome b558, and four soluble proteins (p47phox,p67phox, and p40phox and the small G-proteins, Rac1/2). HPO:probinson owl:Class HP:0025463 biolink:NamedThing Abnormality of redox activity An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions. hp0009lx5z 2017-05-07 11:17:15+00:00 HPO:probinson owl:Class HP:0032871 biolink:NamedThing Focal aware cognitive seizure with hallucination A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0010229 biolink:NamedThing Bracket epiphyses of the phalanges of the hand Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of finger bones|Bracket epiphyses of the fingers doelkens 2009-07-06T03:31:52Z HP:0009360 UMLS:C4021309 human_phenotype owl:Class HP:0009978 biolink:NamedThing Complete duplication of the distal phalanx of the 4th finger Complete duplication of the distal phalanx of ring finger. hp0009lx5z Complete duplication of the outermost bone of the ring finger doelkens 2009-05-26T02:20:23Z UMLS:C4024133 human_phenotype owl:Class HP:0009975 biolink:NamedThing Duplication of the distal phalanx of the 4th finger Partial or complete duplication of the distal phalanx of ring finger. hp0009lx5z Partial/complete duplication of the distal phalanx of the 4th finger|Partial/complete duplication of the outermost bone of the ring finger doelkens 2009-05-26T02:20:08Z UMLS:C4021358 human_phenotype owl:Class HP:0002544 biolink:NamedThing Retrocollis A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. hp0009lx5z Retrocollis is a spasmodic form of torticollis in which the head is drawn back. UMLS:C3887667 human_phenotype owl:Class HP:0000473 biolink:NamedThing Torticollis Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. hp0009lx5z Spasmodic torticollis|Wry neck|Cervical dystonia|Loxia The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia. UMLS:C0949445|UMLS:C0040485|SNOMEDCT_US:74333002|SNOMEDCT_US:270476009|SNOMEDCT_US:70070008|UMLS:C0152116|MSH:D014103 owl:Class HP:0004485 biolink:NamedThing Cessation of head growth Stagnation of head growth seen as flattening of the head circumference curve. hp0009lx5z Cranium stopped growing|Head stopped growing|Skull stopped growing UMLS:C4025319 human_phenotype owl:Class HP:0005484 biolink:NamedThing Secondary microcephaly Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. hp0009lx5z Postnatal deceleration of head circumference|Acquired microcephaly|Development of small head that was not present at birth|Postnatal microcephaly|Deceleration of head growth|Microcephaly, postnatal|Microcephaly, acquired HP:0000259|HP:0000241|HP:0005499 UMLS:C1847514 owl:Class HP:0100724 biolink:NamedThing Hypercoagulability An abnormality of coagulation associated with an increased risk of thrombosis. hp0009lx5z Blood hyperviscosity|Thrombophilia doelkens 2011-06-06T04:04:38Z UMLS:C0398623|SNOMEDCT_US:234467004|MSH:D019851|SNOMEDCT_US:76612001 human_phenotype owl:Class HP:0004788 biolink:NamedThing Intestinal lymphedema Fluid retention and edema in the intestine caused by a compromised lymphatic system. hp0009lx5z UMLS:C4025292 human_phenotype owl:Class HP:0001004 biolink:NamedThing Lymphedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system. hp0009lx5z Lymphoedema|Lymphatic obstruction|Swelling caused by excess lymph fluid under skin|Onset of lymphedema around puberty HP:0003605 UMLS:C1835229|UMLS:C0240278|SNOMEDCT_US:30213001|MSH:D008209|UMLS:C0024236|SNOMEDCT_US:234097001 human_phenotype owl:Class HP:0012052 biolink:NamedThing Low serum calcitriol A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. hp0009lx5z Low serum 1,25-dihydroxyvitamin D3|Low serum 1,25-dihydroxycholecalciferol peter 2012-08-01T01:02:39Z UMLS:C4023065 human_phenotype owl:Class HP:0100511 biolink:NamedThing Abnormality of vitamin D metabolism hp0009lx5z Abnormality of vitamin D metabolism doelkens 2010-12-17T06:19:15Z UMLS:C4022035 human_phenotype owl:Class HP:0002313 biolink:NamedThing Spastic paraparesis hp0009lx5z HP:0007191 UMLS:C0037771|SNOMEDCT_US:312444006|MSH:D020336 human_phenotype owl:Class HP:0002061 biolink:NamedThing Lower limb spasticity Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis hp0009lx5z UMLS:C1271100|SNOMEDCT_US:394679006 human_phenotype owl:Class HP:0030894 biolink:NamedThing Insufficient response to short acting pulmonary vasodilator No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. hp0009lx5z owl:Class HP:0030688 biolink:NamedThing Increased glucagon level An elevated concentration of glucagon in the blood circulation. hp0009lx5z SNOMEDCT_US:131106002|UMLS:C1295677 owl:Class HP:0030898 biolink:NamedThing Pruritis on abdomen Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen. hp0009lx5z owl:Class HP:0033778 biolink:NamedThing Leung cusp An additional cusp located in the middle of the occlusal surface. hp0009lx5z 2021-05-07 09:59:19+00:00 A Leung cusp is present on premolars only. In radiographs, a pulp extension may be seen inside the cusp. peter owl:Class HP:0033777 biolink:NamedThing Supernumerary cusp Additional cusps of a dental crown. hp0009lx5z Extra cusp|Additional cusp 2021-05-07 09:52:32+00:00 The crown is the part of the tooth that is visible in the oral cavity. Supernumerary cusps can occur on any tooth with cusps. Canines possess a single cusp, premolars two (bicuspid), and molars three to five cusps. Supernumerary cusps are frequently seen in patients with other dental anomalies. Prevalence varies by geographical region. A tubercle on the lingual surface of the maxillary first permanent molar is sometimes referred to as a Carabelli cusp. A supernumerary cusp on the lingual or palatal side of anterior teeth is called Talon cusp, and an additional cusp on the occlusal surface of a premolar is called Leung cusp. peter owl:Class HP:0003354 biolink:NamedThing Hyperthreoninemia An increased concentration of threonine in the blood. hp0009lx5z Elevated circulating threonine|High blood threonine levels UMLS:C1848861 human_phenotype owl:Class HP:0010900 biolink:NamedThing Abnormal circulating threonine concentration Any deviation from the normal concentration of threonine in the blood circulation. hp0009lx5z Abnormality of threonine metabolism peter 2010-12-02T04:42:19Z UMLS:C4023666 human_phenotype owl:Class HP:0002013 biolink:NamedThing Vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. hp0009lx5z Vomiting|Throwing up|Emesis MSH:D014839|SNOMEDCT_US:422400008|MEDDRA:10047700|SNOMEDCT_US:300359004|UMLS:C0042963|SNOMEDCT_US:249497008 human_phenotype owl:Class HP:0002017 biolink:NamedThing Nausea and vomiting Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. hp0009lx5z Nausea and vomiting UMLS:C0027498|SNOMEDCT_US:16932000 owl:Class HP:0010584 biolink:NamedThing Pseudoepiphyses hp0009lx5z sandra1 2009-10-22T02:53:19Z UMLS:C1841685 human_phenotype owl:Class HP:0025250 biolink:NamedThing Closed comedo A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead. hp0009lx5z Whitehead 2016-12-17 13:57:50+00:00 HPO:probinson owl:Class HP:0025249 biolink:NamedThing Comedo A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle). hp0009lx5z 2016-12-17 13:56:03+00:00 HPO:probinson owl:Class HP:0009228 biolink:NamedThing Bullet-shaped proximal phalanx of the 5th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected. hp0009lx5z Bullet-shaped innermost pinky finger bone|Bullet-shaped innermost pinkie finger bone|Bullet-shaped innermost little finger bone doelkens 2009-01-05T06:11:33Z UMLS:C4024516 human_phenotype owl:Class HP:0009150 biolink:NamedThing Abnormality of the proximal phalanx of the 5th finger Abnormality of the proximal phalanx of the little (5th) finger. hp0009lx5z Abnormality of the innermost bone pinky finger|Abnormality of the innermost bone little finger|Abnormality of the innermost bone pinkie finger peter 2008-12-22T02:00:20Z UMLS:C4024570 human_phenotype owl:Class HP:0100366 biolink:NamedThing Short phalanx of the 3rd toe Developmental hypoplasia of the phalanx of third toe. hp0009lx5z Short 3rd toe bone|Hypoplastic/small phalanges of the 3rd toe|Short phalanx of the third toe UMLS:C4021014 human_phenotype owl:Class HP:0010746 biolink:NamedThing Hypoplasia of the phalanges of the toes hp0009lx5z Small toe bones doelkens 2010-04-22T04:33:06Z UMLS:C4023715 human_phenotype owl:Class HP:0002121 biolink:NamedThing Generalized non-motor (absence) seizure A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. hp0009lx5z Absence seizure|Generalised non-motor seizure|Petit mal seizure|Brief seizures with staring spells|Petit mal seizures|Petit mal|Generalised non-motor (absence) seizure|Absence seizures in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. HP:0011148|HP:0007143 SNOMEDCT_US:432241000124101|UMLS:C0014553|MSH:D004832|SNOMEDCT_US:79631006|SNOMEDCT_US:50866000|SNOMEDCT_US:230413002 human_phenotype owl:Class HP:0033259 biolink:NamedThing Non-motor seizure A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. hp0009lx5z 2020-11-28 14:43:08+00:00 This term may be used to code the non-motor seizures of a person who cannot confirm or exclude subjective seizure experiences that would aid more detailed classification as a generalized non-motor (absence) seizure or type of focal non-motor seizure. peter owl:Class HP:0000616 biolink:NamedThing Miosis Abnormal (non-physiological) constriction of the pupil. hp0009lx5z Constricted pupils|Pupillary constriction SNOMEDCT_US:63251006|UMLS:C0026205|MSH:D015877 human_phenotype owl:Class HP:0007686 biolink:NamedThing Abnormal pupillary function A functional abnormality of the pupil. hp0009lx5z It is preferable to describe the functional defect precisely. SNOMEDCT_US:72124005|MSH:D011681|UMLS:C0917967 human_phenotype owl:Class HP:0003276 biolink:NamedThing Pelvic bone exostoses A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage. hp0009lx5z Pelvic exostoses UMLS:C1844689 human_phenotype owl:Class HP:0100777 biolink:NamedThing Exostoses An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. hp0009lx5z Formation of new noncancerous bone on top of existing bone doelkens 2011-06-07T05:34:49Z UMLS:C1442903|MSH:D005096|SNOMEDCT_US:80400009|SNOMEDCT_US:416189003 human_phenotype owl:Class HP:0032460 biolink:NamedThing Decreased phosphoribosylpyrophosphate synthetase level Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. hp0009lx5z 2019-03-09 17:35:02+00:00 It is difficult to assay PRS1 enzyme activity separately from that of the other two isoforms (PRS2 and PRS3), a decrease in PRS enzyme activity may be assumed to reflect decreased activity of PRS1, not PRS2 or PRS3. peter owl:Class HP:0032459 biolink:NamedThing Abnormal phosphoribosylpyrophosphate synthetase level Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. hp0009lx5z 2019-03-09 17:34:47+00:00 Intracellular availability of the sugar phosphate, 5-phosphoribosyl 1-pyrophosphate (PP-ribose-P), is an important factor in regulation of the rate of purine synthesis de novo. PP-ribose- P synthetase (EC2.7.6.1) is an enzyme that catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. An increased activity of PP-ribose- P synthetase can be associated with increased PP-ribose-P concentrations and increased purine biosynthetic rates. Increased purine production in turn can be associated with gout. peter owl:Class HP:0005072 biolink:NamedThing Hyperextensibility at wrists The ability of the wrist joints to move beyond their normal range of motion. hp0009lx5z Increased laxity of wrists|Increased wrist mobility UMLS:C1850853 human_phenotype owl:Class HP:0001382 biolink:NamedThing Joint hypermobility The ability of a joint to move beyond its normal range of motion. hp0009lx5z Increased mobility of joints|Hyperextensible joints|Double-Jointed|Joint hyperextensibility|Flexible joints|Extensible joints|Increased joint mobility HP:0005034|HP:0001378 SNOMEDCT_US:298181000|UMLS:C1844820 human_phenotype owl:Class HP:0040115 biolink:NamedThing Abnormality of the Eustachian tube hp0009lx5z HPO:skoehler UMLS:C0262475|SNOMEDCT_US:204250005 owl:Class HP:0012745 biolink:NamedThing Short palpebral fissure Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. hp0009lx5z Short palpebral fissures|Short opening between the eyelids|Decreased height of palpebral fissure peter 2014-03-23T05:27:40Z UMLS:C0423112|SNOMEDCT_US:246802000 human_phenotype owl:Class HP:0200007 biolink:NamedThing Abnormal size of the palpebral fissures An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. hp0009lx5z Abnormal size of the eyes|Abnormal size of the opening between the eyelids sebastiankohler 2010-06-09T08:18:52Z UMLS:C4280286|UMLS:C4021904 human_phenotype owl:Class HP:0011835 biolink:NamedThing Absent scaphoid Congenital absence of the scaphoid.. hp0009lx5z Missing scaphoid bone|Absent scaphoid bone peter 2012-05-05T07:37:35Z UMLS:C1847189 human_phenotype owl:Class HP:0004231 biolink:NamedThing Carpal bone aplasia Congenital absence of a carpal bone. hp0009lx5z Missing wrist bone|Absent carpal ossification center|Absent carpal ossification centre|Absent carpal bone|Aplastic carpal bone|Absent wrist bone|Absent carpal bones Radiographically difficult to distinguish between absent ossification of a carpal bone. HP:0005056|HP:0006084|HP:0006020 UMLS:C1836219|UMLS:C4280537 human_phenotype owl:Class HP:0008357 biolink:NamedThing Reduced factor XIII activity Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. hp0009lx5z UMLS:C4024692 human_phenotype owl:Class HP:0001533 biolink:NamedThing Slender build Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. hp0009lx5z Slender build|Thin build|Thin body habitus|Asthenic habitus Slender, long-limbed habitus. HP:0001529 UMLS:C1850573 human_phenotype owl:Class HP:0004325 biolink:NamedThing Decreased body weight Abnormally low body weight. hp0009lx5z Low body weight|Decreased weight|Weight less than 3rd percentile|Decreased body weight|Low weight peter 2008-02-27T03:22:00Z HP:0001823|HP:0001826 UMLS:C1844806|UMLS:C0041667|SNOMEDCT_US:161832001|UMLS:C1262477|MSH:D013851|MSH:D015431|SNOMEDCT_US:262285001|SNOMEDCT_US:89362005|SNOMEDCT_US:248342006 human_phenotype owl:Class HP:0001975 biolink:NamedThing Decreased platelet glycoprotein IIb-IIIa Decreased cell membrane concentration of glycoprotein IIb-IIIa. hp0009lx5z Glanzmann thrombasthenia|Reduced level of platelet glycoprotein IIb/IIIa complex The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation. UMLS:C0040015|UMLS:C4021767|SNOMEDCT_US:32942005|MSH:D013915 human_phenotype owl:Class HP:0011878 biolink:NamedThing Abnormal platelet membrane protein expression Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. hp0009lx5z peter 2012-05-31T04:00:21Z UMLS:C4023151 human_phenotype owl:Class HP:0032869 biolink:NamedThing Focal non-convulsive status epilepticus without impairment of consciousness Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact. hp0009lx5z Focal non-convulsive status epilepticus with retained awareness|Focal non-convulsive status epilepticus without impairment of awareness|Aura continua Semiology may include autonomic, sensory, visual, olfactory, gustatory, emotional/psychic/experiential, or cognitive symptoms. In 2015, the ILAE Task Force on Classification of Status Epilepticus did not propose a specific time t1 (indicating the time that emergency treatment should be started because the seizure is unlikely to terminate spontaneously) or t2 (the time at which long-term consequences of the seizure may be expected) for focal status epilepticus without impaired consciousness. peter owl:Class HP:0032673 biolink:NamedThing Focal non-convulsive status epilepticus without coma Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure. hp0009lx5z Semiology may include autonomic, sensory, visual, olfactory, gustatory, emotional/psychic/experiential, or cognitive symptoms. Consciousness or awareness may be intact or impaired. peter owl:Class HP:0030298 biolink:NamedThing Metaphyseal chondromatosis of humerus hp0009lx5z UMLS:C4021860 owl:Class HP:0005868 biolink:NamedThing Metaphyseal enchondromatosis An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. hp0009lx5z UMLS:C4025121 human_phenotype owl:Class HP:0007141 biolink:NamedThing Sensorimotor neuropathy hp0009lx5z Nerve damage causing decreased feeling and movement|Sensorimotor peripheral neuropathy|Mixed polyneuropathy HP:0007055|HP:0007237 UMLS:C1112256 owl:Class HP:0010159 biolink:NamedThing Triangular epiphysis of the 1st metatarsal hp0009lx5z Triangular end part of the 1st long bone of foot doelkens 2009-05-29T01:24:17Z UMLS:C4024000 human_phenotype owl:Class HP:0001984 biolink:NamedThing Intolerance to protein hp0009lx5z UMLS:C1396243 human_phenotype owl:Class HP:0012537 biolink:NamedThing Food intolerance A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. hp0009lx5z Food intolerance|Non-allergic food hypersensitivity peter 2013-12-15T10:25:19Z UMLS:C0149696|SNOMEDCT_US:235719002 human_phenotype owl:Class HP:0009566 biolink:NamedThing Short distal phalanx of the 2nd finger Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. hp0009lx5z Short distal phalanx of the second finger|Hypoplastic/small distal phalanx of the 2nd finger|Short terminal index finger phalanx|Short outermost bone of the index finger|Hypoplastic terminal index finger phalanx doelkens 2009-01-28T04:20:22Z HP:0004145 UMLS:C4021438 human_phenotype owl:Class HP:0011449 biolink:NamedThing Knee clonus Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes. hp0009lx5z Patellar clonus peter 2012-03-18T05:11:32Z HP:0002325 UMLS:C0520823|SNOMEDCT_US:54360005 human_phenotype owl:Class HP:0002169 biolink:NamedThing Clonus A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. hp0009lx5z Involuntary rhythmic muscular contractions and relaxations Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. SNOMEDCT_US:36649002|UMLS:C0009024 owl:Class HP:0001760 biolink:NamedThing Abnormal foot morphology An abnormality of the skeleton of foot. hp0009lx5z Abnormal feet structure|Foot deformities|Abnormality of the feet|Foot deformity|Abnormality of the foot A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. HP:0010216|HP:0010611 MSH:D005530|UMLS:C0016506|SNOMEDCT_US:229844004 owl:Class HP:0040095 biolink:NamedThing Neoplasm of the outer ear A tumor (abnormal growth of tissue) of the outer ear. hp0009lx5z Outer ear tumor|Outer ear tumour HPO:skoehler UMLS:C4022443|NCIT:C3262 owl:Class HP:0009131 biolink:NamedThing Abnormality of the musculature of the thorax A disease or lesion affecting the muscles of the thorax. hp0009lx5z peter 2008-04-07T05:06:00Z UMLS:C4024580 human_phenotype owl:Class HP:0030948 biolink:NamedThing Elevated gamma-glutamyltransferase level Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. hp0009lx5z Elevated serum GGT 2017-01-13 21:20:27+00:00 Gamma-glutamyl transferase (GGT) is elevated with most liver diseases and with bile duct damage. Its main clinical use is in the evaluation of patients with isolated elevation in alkaline phosphatase (which can be of hepatic or bone origin). However, there are extrahepatic causes of GGT elevation including pancreatitis, prostate carcinoma, breast carcinoma, lung carcinoma, systemic lupus erythematosus, and congestive heart failure. robinp owl:Class HP:0008255 biolink:NamedThing Transient neonatal diabetes mellitus hp0009lx5z UMLS:C0342273|SNOMEDCT_US:237603002 human_phenotype owl:Class HP:0000857 biolink:NamedThing Neonatal insulin-dependent diabetes mellitus hp0009lx5z UMLS:C3278636 human_phenotype owl:Class HP:0011322 biolink:NamedThing Right unilambdoid synostosis Premature synostosis of only the right lambdoid suture. hp0009lx5z peter 2012-02-25T01:14:34Z UMLS:C4023414 human_phenotype owl:Class HP:0005174 biolink:NamedThing Membranous subvalvular aortic stenosis Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency. hp0009lx5z An important feature in the differential diagnosis between valvular and subvalvular aortic stenosis is the fact that no ejection sound is present in the latter. UMLS:C1848978 human_phenotype owl:Class HP:0009996 biolink:NamedThing Partial duplication of the proximal phalanx of the 5th finger Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Partial duplication of the innermost pinky finger bone|Partial duplication of the innermost little finger bone|Partial duplication of the innermost pinkie finger bone doelkens 2009-05-26T02:24:47Z UMLS:C4024122 human_phenotype owl:Class HP:0031761 biolink:NamedThing Infantile constant esotropia Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction. hp0009lx5z Infantile (constant) esotropia 2018-01-21 14:47:01+00:00 peter owl:Class HP:0100112 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 2nd toe hp0009lx5z Bracket shaped end part of the middle bone of the 2nd toe doelkens 2010-06-24T10:05:37Z UMLS:C4022309 human_phenotype owl:Class HP:0100852 biolink:NamedThing Abnormal fear/anxiety-related behavior An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. hp0009lx5z Abnormal fear/anxiety-related behaviour doelkens 2011-06-23T11:13:16Z HP:0001296 UMLS:C4018849 owl:Class HP:0031466 biolink:NamedThing Impairment in personality functioning A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. hp0009lx5z 2017-09-17 16:30:45+00:00 The emergence of the self in childhood and adolescence is based on experience and perception, which then becomes organized into identity, which organizes further experience and perception. Identity is related to the individual's selfsameness and continuity in time. peter owl:Class HP:0006473 biolink:NamedThing Anterior bowing of long bones An abnormal anterior curvature of a long bone. hp0009lx5z UMLS:C1850644 human_phenotype owl:Class HP:0006487 biolink:NamedThing Bowing of the long bones A bending or abnormal curvature of a long bone. hp0009lx5z Bowed long bones|Diaphyseal bowing of long bones|Camptomelia|Bowing of the long bones|Bowing of long bones|Diaphyseal bowing Curvatures of a long bone such as femur, tibia, or fibula. peter 2008-03-28T05:56:00Z HP:0002976|HP:0006452|HP:0006404|HP:0005087|HP:0005908|HP:0006451 UMLS:C1855340 human_phenotype owl:Class HP:0002612 biolink:NamedThing Congenital hepatic fibrosis The presence of fibrosis of that part of the liver with congenital onset. hp0009lx5z Excessive buildup of connective tissue and scarring of liver at birth|Congenital liver fibrosis Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis). UMLS:C0009714|SNOMEDCT_US:79607001|MSH:C562378 owl:Class HP:0001395 biolink:NamedThing Hepatic fibrosis The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. hp0009lx5z Liver fibrosis MSH:D008103|UMLS:C0239946|SNOMEDCT_US:62484002 owl:Class HP:0032952 biolink:NamedThing Usual-type tubular atrophy A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. hp0009lx5z Common-type renal tubular atrophy peter owl:Class HP:0000092 biolink:NamedThing Renal tubular atrophy The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. hp0009lx5z Renal tubular cell atrophy|Tubular atrophy Atrophic tubules must be distinguished from acute tubular injury as both can show extensive tubular epithelial changes. In acute tubular injury, tubules are often dilated and tubular basement membranes are smooth and maintain normal thickness, in contrast to the contracted tubules with thickened and wrinkled tubular basement membranes of tubular atrophy. Further, in acute tubular injury, tubules are usually back-to-back or mildly separated by interstitial edema, while in tubular atrophy tubules can be separated by interstitial fibrosis. Uniform thickening of tubular basement membranes without shrinkage and otherwise healthy epithelial cells can be seen in diabetic nephropathy. Duplication, or lamellation, thickening, and disruption of tubular basement membranes with tubular dilatation can be seen in medullary cystic kidney disease/nephronophthisis. HP:0005578 UMLS:C1858395 human_phenotype owl:Class HP:0033624 biolink:NamedThing History of congenital CMV infection A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits. hp0009lx5z History of congenital cytomegalovirus infection 2021-01-30 23:08:18+00:00 peter owl:Class HP:0033623 biolink:NamedThing Birth history Information about the delivery and health status at birth typically elicited as a part of the past medical history. hp0009lx5z 2021-01-30 23:06:26+00:00 peter owl:Class HP:0009340 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger. hp0009lx5z Irregular end part of the outermost long bone of the middle finger doelkens 2009-01-12T11:18:33Z UMLS:C4024427 human_phenotype owl:Class HP:0010251 biolink:NamedThing Irregular epiphyses of the distal phalanges of the hand hp0009lx5z Irregular end part of the outermost hand bones doelkens 2009-07-06T04:23:06Z UMLS:C4023948 human_phenotype owl:Class HP:0100437 biolink:NamedThing Bullet-shaped proximal phalanx of the 3rd toe An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped proximal bone of the 3rd toe UMLS:C4022090 human_phenotype owl:Class HP:0010205 biolink:NamedThing Bullet-shaped proximal toe phalanx An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped innermost toe bone|Bullet-shaped proximal phalanges of the toes|Bullet-shaped proximal phalanges of toe doelkens 2009-05-29T01:54:18Z UMLS:C4021316 human_phenotype owl:Class HP:0008687 biolink:NamedThing Hypoplasia of the prostate hp0009lx5z Underdeveloped prostate|Hypoplastic prostate UMLS:C1844923 human_phenotype owl:Class HP:0041078 biolink:NamedThing Decreased immunoglobulin level in body fluid An reduction from normal levels of immunoglobulins in body fluids, such as mucous. hp0009lx5z owl:Class HP:0041076 biolink:NamedThing Abnormal immunoglobulin level in body fluid An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous. hp0009lx5z owl:Class HP:0041244 biolink:NamedThing Fractured scapula A partial or complete breakage of the scapula. hp0009lx5z bone scapula owl:Class HP:0020110 biolink:NamedThing Bone fracture A partial or complete breakage of the continuity of a bone. hp0009lx5z 2019-04-08 20:45:29+00:00 robinp owl:Class HP:0002188 biolink:NamedThing Delayed CNS myelination Delayed myelination in the central nervous system. hp0009lx5z Delay in central nervous system myelination A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood. HP:0007300|HP:0006974|HP:0005770 UMLS:C4021758 human_phenotype owl:Class HP:0011400 biolink:NamedThing Abnormal CNS myelination An abnormality of myelination of nerves in the central nervous system. hp0009lx5z Abnormal formation of myelin sheaths In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality. peter 2012-03-12T07:24:42Z HP:0004335|HP:0002520 UMLS:C4021152 human_phenotype owl:Class HP:0003680 biolink:NamedThing Nonprogressive Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age. hp0009lx5z Nonprogressive disorder|Nonprogressive course|Stationary|Does not worsen|Non-progressive HP:0003685 UMLS:C3839460|SNOMEDCT_US:702322003 owl:Class HP:0003679 biolink:NamedThing Pace of progression hp0009lx5z UMLS:C4025580 human_phenotype owl:Class HP:0010161 biolink:NamedThing Abnormality of the phalanges of the toes hp0009lx5z Abnormality of the long bones of the toes doelkens 2009-05-29T01:31:17Z UMLS:C4023998 human_phenotype owl:Class HP:0009138 biolink:NamedThing Synostosis involving bones of the lower limbs An abnormal union between bones or parts of bones lower limbs. hp0009lx5z Fusion involving the bones of the lower limbs peter 2008-04-17T02:51:00Z UMLS:C4024577 human_phenotype owl:Class HP:0009772 biolink:NamedThing Patchy sclerosis of finger phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. hp0009lx5z Phalangeal sclerosis|Patchy sclerosis of the phalanges of the hand|Uneven increase in bone density in finger bone doelkens 2009-02-02T11:38:04Z HP:0006071 UMLS:C1857508 human_phenotype owl:Class HP:0004286 biolink:NamedThing Patchy sclerosis of hand bones hp0009lx5z Uneven increase in bone density in hand bones UMLS:C4025370 human_phenotype owl:Class HP:0000260 biolink:NamedThing Wide anterior fontanel Enlargement of the anterior fontanelle with respect to age-dependent norms. hp0009lx5z Large anterior fontanelle|Large anterior fontanel|Wide open anterior fontanelle|Large anterior fontanels|Wider-than-typical soft spot of skull|Large open anterior fontanel|Large open anterior fontanelle|Wide anterior fontanelle UMLS:C1866134 human_phenotype owl:Class HP:0000236 biolink:NamedThing Abnormality of the anterior fontanelle An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. hp0009lx5z Abnormality of the forehead soft spot UMLS:C4025875 human_phenotype owl:Class HP:0011738 biolink:NamedThing Corticotropin-releasing hormone receptor defect Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor. hp0009lx5z Corticotropin-releasing hormone receptor (CRHR) resistance|CRHR defect peter 2012-04-21T09:11:04Z UMLS:C4023210|UMLS:C4020745 human_phenotype owl:Class HP:0011734 biolink:NamedThing Central adrenal insufficiency A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. hp0009lx5z Secondary adrenal insufficiency peter 2012-04-21T08:26:19Z UMLS:C0948387 human_phenotype owl:Class HP:0010824 biolink:NamedThing Abnormal fifth cranial nerve morphology Any structural abormality of the fifth cranial nerve. hp0009lx5z Abnormality of the nervus trigeminus|Abnormality of the fifth cranial nerve|Abnormal trigeminal nerve morphology peter 2010-07-10T03:51:21Z UMLS:C4021226 human_phenotype owl:Class HP:0010257 biolink:NamedThing Absent epiphyses of the middle phalanges of the hand hp0009lx5z Absent end part of the middle hand bones doelkens 2009-07-06T04:24:15Z UMLS:C4023943 human_phenotype owl:Class HP:0012020 biolink:NamedThing Right aortic arch Aorta descends on right instead of on the left. hp0009lx5z Right-sided aortic arch The are several types of right aortic arch (RAA). RAA can recognized radiographically by leftward displacement of barium-filled esophagus or of an air-filled trachea. The aortic knob is absent from left side, and the para-aortic stripe returns to left side of spine just above diaphragm. peter 2012-07-26T09:25:32Z SNOMEDCT_US:244229003|Fyler:2720|SNOMEDCT_US:111321007|UMLS:C0035615 human_phenotype owl:Class HP:0011587 biolink:NamedThing Abnormal branching pattern of the aortic arch A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. hp0009lx5z The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and oesophagus by vascular structures is a vascular ring. peter 2012-04-08T01:34:42Z UMLS:C4023282 human_phenotype owl:Class HP:0001845 biolink:NamedThing Overlapping toe Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. hp0009lx5z Crossover toe|Overlapping toe|Overriding toes|Overlapping toes This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly. UMLS:C0920299|SNOMEDCT_US:203541003 human_phenotype owl:Class HP:0100482 biolink:NamedThing Proximal/middle symphalangism of 5th toe Bony fusion of the middle and proximal phalanges of the 5th toe. hp0009lx5z Fused innermost and middle pinky toe bones|Fused innermost and middle little toe bones|Symphalangism of the middle and proximal phalanges of the 5th toe|Fused innermost and middle pinkie toe bones UMLS:C4020973 human_phenotype owl:Class HP:0010366 biolink:NamedThing Triangular shaped phalanges of the 3rd toe hp0009lx5z Triangular shaped 3rd toe bones doelkens 2009-07-16T11:51:17Z UMLS:C4023879 human_phenotype owl:Class HP:0004307 biolink:NamedThing Abnormal anatomic location of the heart Developmental defect characterized by an anomalous anatomic location of the heart. hp0009lx5z peter 2008-02-20T01:23:00Z UMLS:C4025359 owl:Class HP:0010075 biolink:NamedThing Duplication of the 1st metatarsal A developmental defect consisting in the duplication of the first metatarsal bone. hp0009lx5z Duplicated 1st long bone of foot|Duplicated first metatarsals doelkens 2009-05-29T12:13:57Z UMLS:C1851855 human_phenotype owl:Class HP:0010054 biolink:NamedThing Abnormality of the first metatarsal bone An anomaly of the first metatarsal bone. hp0009lx5z Abnormality of the 1st long bone of foot In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal. doelkens 2009-05-29T11:49:54Z UMLS:C4024082 human_phenotype owl:Class HP:0002225 biolink:NamedThing Sparse pubic hair Reduced number or density of pubic hair. hp0009lx5z sparse to absent pubic hair|Sparse pubic hair|Decreased sexual hair HP:0004778 UMLS:C1858573 human_phenotype owl:Class HP:0008070 biolink:NamedThing Sparse hair Reduced density of hairs. hp0009lx5z Hypotrichosis|Sparse hair since birth|Sparse hair|Decreased hair growth on body|Thin, sparse hair|Marked hypotrichosis|Decreased hair growth This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. peter 2008-04-02T04:11:00Z HP:0004538|HP:0004874|HP:0002237|HP:0002291|HP:0004525|HP:0004522|HP:0001006|HP:0002551 SNOMEDCT_US:56558005|SNOMEDCT_US:53602002|MSH:D007039|UMLS:C1860844|UMLS:C0020678|MEDDRA:10021126|UMLS:C1837770 human_phenotype owl:Class HP:0011622 biolink:NamedThing Inlet ventricular septal defect A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. hp0009lx5z Type 3 ventricular septal defect|Atrioventricular canal type ventricular septal defect The muscular septum is a nonplanar structure that can be divided into inlet, trabecular, and infundibular components. The inlet portion is inferioposterior to the membranous septum. It begins at the level of the atrioventricular valves and ends at their chordal attachments apically. peter 2012-04-08T09:38:29Z Fyler:1340 owl:Class HP:0001629 biolink:NamedThing Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. hp0009lx5z VSD|Hole in heart wall separating two lower heart chambers|Ventriculoseptal defect|Ventricular septal defects HP:0001652 UMLS:C0018818|MSH:D006345|Fyler:1300|SNOMEDCT_US:253549006|SNOMEDCT_US:30288003 owl:Class HP:0007265 biolink:NamedThing Absent mesencephalon Agenesis of the midbrain. hp0009lx5z Midbrain and mesencephalon are synonymous. UMLS:C4024913 human_phenotype owl:Class HP:0002418 biolink:NamedThing Abnormal midbrain morphology An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. hp0009lx5z Abnormality of the mesencephalon|Abnormality of midbrain morphology|Abnormality of the midbrain|Abnormal shape of midbrain UMLS:C4021755 owl:Class HP:0003759 biolink:NamedThing Hypoplasia of lymphatic vessels Congenital underdevelopment of lymph vessels. hp0009lx5z Underdeveloped lymphatic vessels This feature can be demonstrated by lymphography. UMLS:C4025570 owl:Class HP:0100766 biolink:NamedThing Abnormal lymphatic vessel morphology A structural anomaly of the vessel that contains or conveys lymph fluid. hp0009lx5z Abnormality of the lymphatic vessels doelkens 2011-06-07T10:44:54Z UMLS:C4021974 owl:Class HP:0410363 biolink:NamedThing Increased monosialylated core 1 O-glycan level An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins. hp0009lx5z Increased sialyl T-antigen concentration owl:Class HP:0012362 biolink:NamedThing Abnormal sialylation of O-linked protein glycosylation An anomaly of the addition of sialic acids to O-linked glycans. hp0009lx5z peter 2013-09-15T10:36:12Z UMLS:C4022929 human_phenotype owl:Class HP:0032009 biolink:NamedThing Infantile constant exotropia Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities. hp0009lx5z Infantile (constant) exotropia 2018-07-22 15:37:33+00:00 Typically infantile constant exotropia suggests presentation at 6 months of age or younger, while basic constant exotropia suggests later presentation (older than 6-12 months). (OHO 745 & 750). peter owl:Class HP:0031713 biolink:NamedThing Constant exotropia A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times. hp0009lx5z 2018-01-13 13:23:11+00:00 peter owl:Class HP:0025409 biolink:NamedThing Abnormal spleen physiology Any anomaly of the function of the spleen. hp0009lx5z 2017-04-23 10:56:59+00:00 HPO:probinson owl:Class HP:0001743 biolink:NamedThing Abnormality of the spleen An abnormality of the spleen. hp0009lx5z Abnormality of the spleen The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. UMLS:C4025749 human_phenotype owl:Class HP:4000027 biolink:NamedThing anti-LAD-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180. hp0009lx5z 2021-05-02 14:48:27+00:00 Bullous pemphigoid (BP) is an autoimmune blistering skin disease characterized by an autoimmune response to type XVII collagen (BP180). The generation of anti-BP180-NC16A IgG autoantibodies is considered to be central to the pathogenesis of BP, in part due to the close correlation between serum concentration and disease activity. However, about 60% of BP patients also generate IgG autoantibodies against LAD-1. robinp owl:Class HP:0032736 biolink:NamedThing Focal emotional seizure with anger Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour. hp0009lx5z This seizure type localizes to prefrontal or mesial temporal regions of the brain. peter owl:Class HP:0032526 biolink:NamedThing Ameliorated by acetylcholinesterase inhibitor Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon. hp0009lx5z 2019-05-26 11:47:48+00:00 peter owl:Class HP:0100113 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 2nd toe hp0009lx5z Cone-shaped end part of the middle bone of the 2nd toe doelkens 2010-06-24T10:05:37Z UMLS:C4022308 human_phenotype owl:Class HP:0100046 biolink:NamedThing Cone-shaped epiphyses of the 2nd toe hp0009lx5z Cone-shaped end part of the 2nd toe bone doelkens 2010-06-24T09:58:18Z UMLS:C4022375 human_phenotype owl:Class HP:0009403 biolink:NamedThing Triangular epiphyses of the 4th finger A triangular appearance of the epiphyses of the 4th finger of the hand. hp0009lx5z Delta-shaped epiphyses of the 4th finger|Triangular end part of ring finger bone doelkens 2009-01-13T01:59:12Z UMLS:C4021482 human_phenotype owl:Class HP:0002877 biolink:NamedThing Nocturnal hypoventilation hp0009lx5z Nocturnal slow breathing|Nocturnal hypopnea|Nocturnal under breathing UMLS:C1843643 human_phenotype owl:Class HP:0002791 biolink:NamedThing Hypoventilation A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). hp0009lx5z Under breathing|Respiratory depression|Slow breathing|Alveolar hypoventilation Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal. HP:0004892 SNOMEDCT_US:80954004|UMLS:C0235063|SNOMEDCT_US:31515003|MSH:D012131|MSH:D007040|SNOMEDCT_US:15993004|UMLS:C3203358 owl:Class HP:0001401 biolink:NamedThing Intrahepatic biliary dysgenesis hp0009lx5z UMLS:C1859235 human_phenotype owl:Class HP:0011040 biolink:NamedThing Abnormality of the intrahepatic bile duct An abnormality of the intrahepatic bile duct. hp0009lx5z peter 2011-03-07T07:54:11Z UMLS:C4023577 human_phenotype owl:Class HP:0041193 biolink:NamedThing Fractured epiphysis of first metatarsal bone A partial or complete breakage of the epiphysis of first metatarsal bone. hp0009lx5z bone epiphysis of first metatarsal bone owl:Class HP:0011161 biolink:NamedThing Focal sensory seizure with olfactory features Seizures characterized by olfactory phenomena as its first clinical manifestation. hp0009lx5z Olfactory aura|Partial olfactory seizure|Focal olfactory seizure|Olfactory auras These seizures involve the mesial temporal or orbitofrontal regions. peter 2011-10-18T02:28:55Z UMLS:C4023504 owl:Class HP:0011157 biolink:NamedThing Focal sensory seizure A focal sensory seizure is a type seizure beginning with a subjective sensation. hp0009lx5z Sensory aura|Focal sensory seizures|Partial sensory seizure A focal sensory seizure involves a sensation being experienced at seizure onset, without objective clinical signs of a seizure evident to the observer. peter 2011-10-18T02:26:40Z SNOMEDCT_US:18618006|UMLS:C0236018|MSH:D004827 owl:Class HP:0012480 biolink:NamedThing Abnormal cerebral vein morphology An anomaly of cerebral veins. hp0009lx5z Abnormality of cerebral veins peter 2013-11-28T08:01:32Z UMLS:C4022888 owl:Class HP:0041168 biolink:NamedThing Fractured lumbar vertebra A partial or complete breakage of the lumbar vertebra. hp0009lx5z bone lumbar vertebra owl:Class HP:0003981 biolink:NamedThing Broad radius Increased width of the radius. hp0009lx5z Wide radius UMLS:C4021698 human_phenotype owl:Class HP:0005622 biolink:NamedThing Broad long bones Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. hp0009lx5z Wide long bones|Broad long bones|Widened long bones UMLS:C4021630 human_phenotype owl:Class HP:0009178 biolink:NamedThing Symphalangism of middle phalanx of 5th finger Fusion of the middle phalanx of the 5th finger with another bone. hp0009lx5z Fused middle bones of pinky finger|Fused middle bones of pinkie finger|Fused middle bones of little finger peter 2008-12-29T03:17:43Z UMLS:C4024554 human_phenotype owl:Class HP:0009849 biolink:NamedThing Symphalangism of middle phalanx of finger Fusion of a middle phalanx of a finger with another bone. hp0009lx5z Fused middle finger bone doelkens 2009-03-11T12:15:55Z HP:0009872 UMLS:C4024184 human_phenotype owl:Class HP:0005273 biolink:NamedThing Absent nasal septal cartilage Lack of the cartilage of the nasal septum. hp0009lx5z Ageneis of nasal septal cartilage|Absent nasal septal cartilage|Absent nasal septum|Failure of development of nasal septal cartilage UMLS:C4021638|UMLS:C4280501 owl:Class HP:0009935 biolink:NamedThing Aplasia/Hypoplasia of the nasal septum Absence or underdevelopment of the nasal septum. hp0009lx5z Underdevelopment of nasal septum|Ageneis of nasal septum|Failure of development of nasal septum peter 2009-05-10T10:40:21Z UMLS:C4024156 human_phenotype owl:Class HP:0100101 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 2nd toe hp0009lx5z Bracket shaped end part of the outermost bone of the 2nd toe doelkens 2010-06-24T10:04:20Z UMLS:C4022320 human_phenotype owl:Class HP:0100088 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 2nd toe hp0009lx5z Abnormality of the end part of the outermost bone of the 2nd toe doelkens 2010-06-24T10:01:42Z UMLS:C4022333 human_phenotype owl:Class HP:0100223 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 5th toe hp0009lx5z Triangular end part of the middle bone of the pinkie toe|Triangular end part of the middle bone of the pinky toe|Triangular end part of the middle bone of the little toe doelkens 2010-06-24T05:04:00Z UMLS:C4022198 human_phenotype owl:Class HP:0012351 biolink:NamedThing Increased sialylation of N-linked protein glycosylation Increased addition of sialic acids to N-linked glycans. hp0009lx5z peter 2013-09-15T10:15:28Z UMLS:C4022940 human_phenotype owl:Class HP:0025033 biolink:NamedThing Abnormality of digestive system morphology A structural anomaly of the digestive system. hp0009lx5z 2016-08-27 13:58:23+00:00 HPO:probinson owl:Class HP:0025031 biolink:NamedThing Abnormality of the digestive system hp0009lx5z 2016-08-27 13:44:32+00:00 Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. HPO:probinson owl:Class HP:0002108 biolink:NamedThing Spontaneous pneumothorax Pneumothorax occurring without traumatic injury to the chest or lung. hp0009lx5z Spontaneous collapsed lung MSH:D011030|SNOMEDCT_US:80423007|UMLS:C0149781 human_phenotype owl:Class HP:0010667 biolink:NamedThing Aplasia of the maxilla A congenital defect characterized by absence of the Maxilla. hp0009lx5z Failure of development of upper jaw bones|Absence of the maxilla|Aplasia of the upper jaw bones|Failure of development of maxilla|Absence of upper jaw bones|Missing upper jaw bones|Agenesis of the maxilla peter 2010-02-26T08:11:45Z UMLS:C4280371|UMLS:C4023750 human_phenotype owl:Class HP:0001405 biolink:NamedThing Periportal fibrosis The presence of fibrosis affecting the interlobular stroma of liver. hp0009lx5z Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells. UMLS:C1849766 human_phenotype owl:Class HP:0040124 biolink:NamedThing Patent tuba eustachii hp0009lx5z Open tuba eustachii HPO:skoehler UMLS:C4021033 owl:Class HP:0003960 biolink:NamedThing Exostoses of the forearm bones hp0009lx5z UMLS:C4025478 human_phenotype owl:Class HP:0005559 biolink:NamedThing Abnormality of the kinin-kallikrein system hp0009lx5z peter 2008-03-27T10:34:00Z UMLS:C4025178 human_phenotype owl:Class HP:0100050 biolink:NamedThing Ivory epiphyses of the 2nd toe Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. hp0009lx5z Increased bone density of end part of the 2nd toe doelkens 2010-06-24T09:58:18Z UMLS:C4022371 human_phenotype owl:Class HP:0032476 biolink:NamedThing Abnormal circulating vitamin B6 level An abnormal concentration of vitamin B6 in the blood circulation. hp0009lx5z 2019-04-09 12:06:29+00:00 peter owl:Class HP:0004340 biolink:NamedThing Abnormality of vitamin B metabolism hp0009lx5z Abnormality of B-vitamin metabolism peter 2008-03-08T08:08:00Z UMLS:C4021659 human_phenotype owl:Class HP:0001026 biolink:NamedThing Penetrating foot ulcers hp0009lx5z Penetrating foot ulcers UMLS:C4025809 human_phenotype owl:Class HP:0200042 biolink:NamedThing Skin ulcer A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. hp0009lx5z Open skin sore sebastiankohler 2010-06-18T02:17:00Z MSH:D012883|SNOMEDCT_US:46742003|MEDDRA:10040943|UMLS:C0037299 human_phenotype owl:Class HP:0040044 biolink:NamedThing Hypoplasia of the diaphragm hp0009lx5z Underdeveloped diaphragm HPO:skoehler UMLS:C4022473 owl:Class HP:0010315 biolink:NamedThing Aplasia/Hypoplasia of the diaphragm Absence or underdevelopment of the diaphragm. hp0009lx5z Absent/underdeveloped diaprhagm|Absent/small diaprhagm peter 2009-07-12T02:41:58Z UMLS:C4023910 human_phenotype owl:Class HP:0012618 biolink:NamedThing Urachal cyst A cyst located along the allantois canal. hp0009lx5z peter 2014-01-17T12:15:15Z SNOMEDCT_US:17234001|MSH:D014496|UMLS:C0041915 human_phenotype owl:Class HP:0010478 biolink:NamedThing Abnormality of the urachus Abnormality of the urachus. hp0009lx5z The urachus is a vestigial embryonic structure, a canal that connects the urinary bladder of the fetus with the allantois (a structure involved in the development of the umbilical cord). During embryonic development, the lumen of the urachus is normally obliterated, transforming the urachus into a solid cord. peter 2009-09-15T10:13:04Z UMLS:C4023811 human_phenotype owl:Class HP:0025589 biolink:NamedThing Cyclodeviation Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes. hp0009lx5z 2018-01-13 19:57:49+00:00 Patients with torsional deviations rarely complain of torsional diplopia and thus, cyclotropia has largely not been of significant clinical concern. HPO:probinson owl:Class HP:0410344 biolink:NamedThing Shortened O-fucosylated glycan on properdin Decreased length of O-fucosylated glycans present on properdin. hp0009lx5z Presence of terminal O-fucose glycans on properdin owl:Class HP:0005875 biolink:NamedThing Increased dermatoglyphic whorls hp0009lx5z UMLS:C4025120 human_phenotype owl:Class HP:0032400 biolink:NamedThing Dysgyria with thickened cortex An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria. hp0009lx5z 2019-02-24 17:06:39+00:00 peter owl:Class HP:0006891 biolink:NamedThing Thick cerebral cortex hp0009lx5z UMLS:C4024970 human_phenotype owl:Class HP:0007209 biolink:NamedThing Facial paralysis Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). hp0009lx5z Facial paralysis|Facial paresis Facial paralysis can be caused by compression of the facial nerve.The main difference between facial paralysis and Palsy is cause for the paralysis can be identified, be it a tumor, infection, or nerve damage. Facial paralysis, in most cases, also appears more permanent than Bell's Palsy, with cases lasting for years to life if a patient doesn't seek treatment. HP:0007358 SNOMEDCT_US:280816001|UMLS:C0015469|MSH:D005158|SNOMEDCT_US:95666008|UMLS:C0427055 human_phenotype owl:Class HP:0003470 biolink:NamedThing Paralysis Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. hp0009lx5z Paralysis|Inability to move MSH:D010243|UMLS:C0522224|SNOMEDCT_US:44695005 owl:Class HP:0007831 biolink:NamedThing Nonprogressive restrictive external ophthalmoplegia Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. hp0009lx5z HP:0007682 UMLS:C4024789 human_phenotype owl:Class HP:0009329 biolink:NamedThing Small epiphysis of the middle phalanx of the 3rd finger Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. hp0009lx5z Small end part of the middle bone of the middle finger doelkens 2009-01-12T11:15:44Z UMLS:C4024437 human_phenotype owl:Class HP:0009334 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 3rd finger hp0009lx5z Abnormality of the middle part of the middle bone of the middle finger doelkens 2009-01-12T11:16:44Z UMLS:C4024433 human_phenotype owl:Class HP:0010674 biolink:NamedThing Abnormality of the curvature of the vertebral column The presence of an abnormal curvature of the vertebral column. hp0009lx5z Curved spine|Curvature of spine|Abnormal curve of the spine|Abnormal curving of the spine|Abnormal curve of the backbone sandra1 2010-02-27T06:28:19Z UMLS:C4023747 human_phenotype owl:Class HP:0100780 biolink:NamedThing Conjunctival hamartoma A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. hp0009lx5z doelkens 2011-06-07T05:50:21Z UMLS:C4021849 human_phenotype owl:Class HP:0000502 biolink:NamedThing Abnormal conjunctiva morphology An abnormality of the conjunctiva. hp0009lx5z The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva). UMLS:C4025847 human_phenotype owl:Class HP:0009577 biolink:NamedThing Short middle phalanx of the 2nd finger Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. hp0009lx5z Brachymesophalangy II (finger)|Hypoplastic/small middle phalanx of the 2nd finger|Short middle bone of index finger|Hypoplastic middle index finger phalanx doelkens 2009-01-28T05:15:55Z HP:0004133 UMLS:C4021435 owl:Class HP:0004376 biolink:NamedThing Neuroblastic tumor A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. hp0009lx5z Neuroblastic tumour Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors. peter 2008-03-18T07:39:00Z UMLS:C1334953 human_phenotype owl:Class HP:0100836 biolink:NamedThing Malignant neoplasm of the central nervous system A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. hp0009lx5z Malignant neoplasm of the CNS doelkens 2011-06-09T06:09:10Z SNOMEDCT_US:372062007|UMLS:C0348374 human_phenotype owl:Class HP:0041240 biolink:NamedThing Fractured phalanx of pes A partial or complete breakage of the phalanx of pes. hp0009lx5z bone phalanx of pes owl:Class HP:0100471 biolink:NamedThing Symphalangism affecting the middle phalanx of the 4th toe hp0009lx5z Fused middle bones of 4th toe UMLS:C4022056 human_phenotype owl:Class HP:0010377 biolink:NamedThing Symphalangism affecting the phalanges of the 4th toe hp0009lx5z Fused bones of 4th toe doelkens 2009-07-16T11:51:46Z UMLS:C4023872 human_phenotype owl:Class HP:3000006 biolink:NamedThing Abnormality of medial pterygoid muscle An abnormality of a medial pterygoid muscle. hp0009lx5z vasilevs 2015-02-26T03:43:06Z UMLS:C4073215 human_phenotype owl:Class HP:0410011 biolink:NamedThing Abnormality of masticatory muscle Any abnormality of the masticatory muscle. hp0009lx5z Abnormality of muscles of mastication UMLS:C4073190 owl:Class HP:0006610 biolink:NamedThing Wide intermamillary distance A larger than usual distance between the left and right nipple. hp0009lx5z Widely spaced nipples|Wide-spaced nipples|Widely-spaced nipples HP:0000779|HP:0001554 UMLS:C1827524|SNOMEDCT_US:423230008 human_phenotype owl:Class HP:0040157 biolink:NamedThing Abnormal intermamillary distance hp0009lx5z HPO:skoehler UMLS:C4022412 owl:Class HP:0033232 biolink:NamedThing Abnormal glomerular mesangial matrix morphology Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. hp0009lx5z 2020-10-31 12:50:08+00:00 peter owl:Class HP:0001966 biolink:NamedThing Abnormal glomerular mesangium morphology An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. hp0009lx5z Abnormality of the glomerular mesangium|Mesangial abnormality|Abnormality glomerular mesangium morphology Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane. UMLS:C4025733 owl:Class HP:0001194 biolink:NamedThing Abnormalities of placenta or umbilical cord An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). hp0009lx5z Abnormalities of placenta or umbilical cord UMLS:C4025798 human_phenotype owl:Class HP:0030025 biolink:NamedThing Auricular pit Small indentation in the lower part of the ascending helix, concha, or in the crus helix. hp0009lx5z The location of the pits is the plane of fusion of the first branchial cleft. UMLS:C4022672 owl:Class HP:0011114 biolink:NamedThing Defective production of NFKB1-dependent cytokines An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. hp0009lx5z peter 2011-06-12T09:12:15Z UMLS:C4023533 human_phenotype owl:Class HP:0011113 biolink:NamedThing Abnormality of cytokine secretion An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). hp0009lx5z peter 2011-06-12T09:07:24Z MP:0003009|UMLS:C4023534 owl:Class HP:0011652 biolink:NamedThing Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. hp0009lx5z Double outlet right ventricle, doubly committed ventricular septal defect|DORV with doubly committed VSD peter 2012-04-09T10:05:46Z UMLS:C4023247|Fyler:0604|Fyler:604 human_phenotype owl:Class HP:0002786 biolink:NamedThing Tracheobronchomalacia Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. hp0009lx5z MSH:D055089|SNOMEDCT_US:233788001|UMLS:C0340231 human_phenotype owl:Class HP:0002779 biolink:NamedThing Tracheomalacia hp0009lx5z Floppy windpipe SNOMEDCT_US:95434006|UMLS:C0948187|MSH:D055090 human_phenotype owl:Class HP:0030428 biolink:NamedThing Cutaneous myxoma A myxoma originating in the skin. hp0009lx5z Cutaneous myxomas are sharply demarcated nodules of the dermis or subcutis that may occur as solitary lesions or in association with Carney complex. Microscopically, cutaneous myxomas in the Carney complex have sharp circumscription, hypocellularity, abundant myxoid stroma, prominent capillaries and an occasional epithelial component. UMLS:C1333178|NCIT:C6577 owl:Class HP:0009265 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 4th finger Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger. hp0009lx5z Fragmentation of end part of the innermost bone of the ring finger doelkens 2009-01-07T12:12:59Z UMLS:C4024484 human_phenotype owl:Class HP:0032183 biolink:NamedThing Decreased proportion of memory T cells An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood. hp0009lx5z Decreased proportion of CD4+CD29+ cells 2019-01-12 14:35:47+00:00 peter owl:Class HP:0032182 biolink:NamedThing Abnormal proportion of memory T cells An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response. hp0009lx5z Abnormal proportion of CD4+CD29+ cells 2019-01-12 14:32:15+00:00 peter owl:Class HP:0030758 biolink:NamedThing Periapical tooth abscess A tooth abscess that occurs at the tip of the root (apex) of a tooth. hp0009lx5z UMLS:C4280782 owl:Class HP:0030757 biolink:NamedThing Tooth abscess A pocket of pus located within a region of a tooth. hp0009lx5z Dental abscess|Dentoalveolar abscess SNOMEDCT_US:299709002|UMLS:C0518988 owl:Class HP:0002049 biolink:NamedThing Proximal renal tubular acidosis A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. hp0009lx5z Renal tubular acidosis, proximal|Renal tubular acidosis, type II|Proximal tubular acidosis SNOMEDCT_US:24790002|UMLS:C0268435|MSH:D000141 human_phenotype owl:Class HP:0001947 biolink:NamedThing Renal tubular acidosis Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. hp0009lx5z Accumulation of acid in body due to kidney problem MSH:D000141|UMLS:C0001126|SNOMEDCT_US:1776003 human_phenotype owl:Class HP:0002165 biolink:NamedThing Pterygium of nails Inward advance of skin over the nail plate. hp0009lx5z Nail pterygium SNOMEDCT_US:110987009|UMLS:C0406438 owl:Class HP:0001597 biolink:NamedThing Abnormality of the nail Abnormality of the nail. hp0009lx5z Abnormality of the nail|Nail disease Abnormality of the fingernails and/or toenails. MSH:D009260|MSH:D009264|SNOMEDCT_US:17790008|UMLS:C0853087|UMLS:C0027339 owl:Class HP:0045080 biolink:NamedThing Decreased proportion of CD3-positive T cells Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells. hp0009lx5z Decreased proportion of CD3+ T cells HP:0045072 owl:Class HP:0040237 biolink:NamedThing Impaired binding of factor VIII to VWF Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay. hp0009lx5z von Willebrand Disease Type II Normandy This term has been requested and created by members of the BRIDGE consortium UMLS:C4280710 owl:Class HP:0012146 biolink:NamedThing Abnormality of von Willebrand factor Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. hp0009lx5z peter 2012-09-16T08:25:58Z UMLS:C4023023 human_phenotype owl:Class HP:0020131 biolink:NamedThing Abnormal tubular basement membrane morphology Abnormal structure of the basement membrane of the renal tubulus. hp0009lx5z robinp 2019-07-05 16:55:32+00:00 owl:Class HP:0000091 biolink:NamedThing Abnormal renal tubule morphology An abnormality of the renal tubules. hp0009lx5z Abnormality of the renal tubule|Morphologic abnormality of the renal tubules The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. UMLS:C4021826 human_phenotype owl:Class HP:0100296 biolink:NamedThing Perifascicular muscle fiber atrophy hp0009lx5z Perifascicular muscle fibre atrophy doelkens 2010-08-10T01:59:54Z UMLS:C0333757|SNOMEDCT_US:87196003 human_phenotype owl:Class HP:0011473 biolink:NamedThing Villous atrophy The enteric villi are atrophic or absent. hp0009lx5z Duodenal villous atrophy|Villous degeneration|Variable degree of villous atrophy|Atrophy of small intestinal villi|Small intestine biopsy shows villous atrophy|Biopsy shows villous atrophy peter 2012-03-26T08:18:31Z SNOMEDCT_US:75581001|UMLS:C0554101|UMLS:C2677378|UMLS:C1833058|UMLS:C1859541|SNOMEDCT_US:275403002|UMLS:C4020747|UMLS:C0267456 human_phenotype owl:Class HP:0011472 biolink:NamedThing Abnormality of small intestinal villus morphology hp0009lx5z Abnormal shape of small intestinal villus peter 2012-03-26T08:16:03Z UMLS:C4023341 human_phenotype owl:Class HP:0009505 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 2nd finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the outermost bone of the index finger doelkens 2009-01-16T01:11:04Z UMLS:C4024325 human_phenotype owl:Class HP:0009632 biolink:NamedThing Curved proximal phalanx of the thumb A deviation from the normal straight shape of the proximal phalanx of the thumb. hp0009lx5z Curved innermost thumb bone doelkens 2009-01-29T05:09:41Z UMLS:C4024265 human_phenotype owl:Class HP:0005008 biolink:NamedThing Large joint dislocations hp0009lx5z Large joint dislocations UMLS:C4025260 human_phenotype owl:Class HP:0001373 biolink:NamedThing Joint dislocation Displacement or malalignment of joints. hp0009lx5z Joint dislocations|Joint dislocation|Recurrent joint dislocations Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. HP:0005837|HP:0002772 SNOMEDCT_US:108367008|SNOMEDCT_US:87642003|MSH:D004204|UMLS:C0012691 human_phenotype owl:Class HP:0007207 biolink:NamedThing Photosensitive tonic-clonic seizure Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. hp0009lx5z Photically induced tonic-clonic seizure|Photosensitive tonic-clonic seizures|Seizures, tonic-clonic, photosensitive UMLS:C1846131 owl:Class HP:0025190 biolink:NamedThing Bilateral tonic-clonic seizure with generalized onset A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. hp0009lx5z Primary generalized tonic-clonic seizures|Primary generalised tonic-clonic seizure|Primarily generalised tonic-clonic seizures|Primary generalized tonic-clonic seizure|Generalized tonic-clonic seizure without partial onset|Generalised tonic-clonic seizure without partial onset|Generalized tonic-clonic seizure without focal onset|Generalized tonic-clonic seizures without focal onset|Generalised tonic-clonic seizures without focal onset|Primary generalised tonic-clonic seizures|Primarily generalized tonic-clonic seizures|Generalized-onset tonic-clonic seizure|Generalised tonic-clonic seizure without focal onset|Bilateral tonic-clonic seizure with generalised onset|Generalised-onset tonic-clonic seizure 2016-12-04 22:50:21+00:00 HPO:probinson owl:Class HP:0010391 biolink:NamedThing Duplication of the phalanges of the 5th toe Partial or complete duplication of one or more phalanx of little toe. hp0009lx5z Partial/complete duplication of the phalanges of the 5th toe|Duplication of the bones of the pinky toe|Duplication of the bones of the little toe|Duplication of the bones of the pinkie toe|Duplication of the phalanges of the fifth toe doelkens 2009-07-16T11:52:18Z UMLS:C4020903 human_phenotype owl:Class HP:0100501 biolink:NamedThing Recurrent bronchiolitis An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis. hp0009lx5z doelkens 2010-12-17T05:58:08Z UMLS:C4015136 human_phenotype owl:Class HP:0002837 biolink:NamedThing Recurrent bronchitis An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. hp0009lx5z Bronchitis, recurrent HP:0002785 UMLS:C0741796 human_phenotype owl:Class HP:0004696 biolink:NamedThing Talipes cavus equinovarus hp0009lx5z UMLS:C1832342 human_phenotype owl:Class HP:0001762 biolink:NamedThing Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. hp0009lx5z Talipes varus|Foot, talipes equinovarus|Club foot|Club feet|Pes equinus|Pes equinovarus|Clubbing of feet|Clubfoot|Equinovarus|Clubfeet Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. SNOMEDCT_US:397932003|SNOMEDCT_US:249808002|UMLS:C0009081|MEDDRA:10043106|Fyler:4171|MSH:D003025 owl:Class HP:0009580 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger hp0009lx5z Absent/underdeveloped innermost index finger bone|Absent/small innermost index finger bone doelkens 2009-01-28T05:26:39Z UMLS:C4024281 human_phenotype owl:Class HP:0009552 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 2nd finger hp0009lx5z Absent/underdeveloped index finger bone|Absent/small index finger bone doelkens 2009-01-21T10:20:26Z UMLS:C4024298 human_phenotype owl:Class HP:0410260 biolink:NamedThing Asymmetrical gluteal crease The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg. hp0009lx5z Asymmetrical horizontal gluteal crease|Asymmetrical buttock crease|Asymmetrical gluteal sulcus 2018-10-19 21:42:53+00:00 owl:Class HP:4000032 biolink:NamedThing False perception of self-motion A perception that one's body is moving or swaying despite lack of motion of the body. hp0009lx5z 2021-05-02 15:07:55+00:00 robinp owl:Class HP:0001751 biolink:NamedThing Vestibular dysfunction An abnormality of the functioning of the vestibular apparatus. hp0009lx5z Vestibular function defect|Impaired vestibular function|Interictal vestibular dysfunction The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. HP:0007921|HP:0006917 UMLS:C1843865 human_phenotype owl:Class HP:0032568 biolink:NamedThing Urinary mulberry cells Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance. hp0009lx5z 2019-06-19 10:42:15+00:00 See Figure 1 of PMID:28593486. peter owl:Class HP:0012614 biolink:NamedThing Abnormal urine cytology An anomalous finding in the examination of the urine for cells. hp0009lx5z peter 2014-01-17T12:01:16Z SNOMEDCT_US:310439007|UMLS:C0587955 human_phenotype owl:Class HP:0004582 biolink:NamedThing Irregularity of vertebral bodies hp0009lx5z UMLS:C4025311 human_phenotype owl:Class HP:0033540 biolink:NamedThing Reversible airflow obstruction Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. hp0009lx5z Reversible pulmonary obstruction 2021-01-20 14:55:01+00:00 peter owl:Class HP:0006536 biolink:NamedThing Airway obstruction Obstruction of conducting airways of the lung. hp0009lx5z Pulmonary obstruction|Obstructive lung disease HP:0006512 UMLS:C0600260|MSH:D008173 owl:Class HP:0032580 biolink:NamedThing Abnormal bulbus cordis morphology Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis. hp0009lx5z The portion of the embryonic heart that receives blood is called the sinus venosus. There are two horns, the left and the right, that pump blood into the primordial atrium, which is then pumped into the ventricle and the bulbus cordis. From the bulbus cordis, it goes into the aortic sac which is connected to the first aortic arch. peter owl:Class HP:0032932 biolink:NamedThing Increased circulating pancreatic triacylglycerol lipase level An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma). hp0009lx5z Elevated circulating pancreatic triacylglycerol lipase activity Acute pancreatitis is the main reason for an increase in lipase, although a number of other conditions such as chronic pancreatitis, acute cholecystitis, and bowel obstruction can increase lipase activity. In acute pancreatitis, serum lipase levels usually rise within 4 to 8 hours, peak at 24 hours, and decrease to normal or near normal levels over the next 8 to 14 days. Serum lipase remains elevated for a longer period of time compared to the period of elevation of serum amylase after acute pancreatitis. A common threshold used is three times the normal limit. peter owl:Class HP:0012807 biolink:NamedThing High insertion of columella Insertion of the posterior columella superior to the nasal base. hp0009lx5z Ala lower than columella|Columella, high insertion This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. hecht 2014-05-25T05:51:17Z UMLS:C4020909 human_phenotype owl:Class HP:0009929 biolink:NamedThing Abnormality of the columella An abnormality of the columella. hp0009lx5z Deformity of the columella|Malformation of the columella|Anomaly of the columella The columella is the fleshy external end of the nasal septum. peter 2009-05-05T06:51:28Z UMLS:C4024158 human_phenotype owl:Class HP:0012327 biolink:NamedThing Celiac artery compression Compression of the celiac artery. hp0009lx5z Median arcuate ligament syndrome|Coeliac artery compression|Dunbar syndrome|Coeliac axis syndrome|Celiac axis syndrome This feature may be characterized by abdominal pain related to compression of the celiac artery by fibers of the median arcuate ligament. peter 2013-08-12T08:49:18Z UMLS:C4020693|UMLS:C0152098|SNOMEDCT_US:9250002 human_phenotype owl:Class HP:0012326 biolink:NamedThing Abnormal celiac artery morphology An anomaly of the celiac artery. hp0009lx5z Abnormality of the celiac artery|Abnormal coeliac artery morphology|Abnormality of the coeliac artery The celiac artery (celiac trunk or truncus coeliacus) is the first major branch of the abdominal aorta. peter 2013-08-12T08:47:21Z UMLS:C4022954 human_phenotype owl:Class HP:0001562 biolink:NamedThing Oligohydramnios Diminished amniotic fluid volume in pregnancy. hp0009lx5z Maternal oligohydramnios|Low levels of amniotic fluid Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. HP:0004638 UMLS:C0079924|UMLS:C3550658|SNOMEDCT_US:59566000|MSH:D016104 human_phenotype owl:Class HP:0040265 biolink:NamedThing Upper limb muscle hypertrophy hp0009lx5z UMLS:C4280687 owl:Class HP:0001446 biolink:NamedThing Abnormality of the musculature of the upper limbs hp0009lx5z Abnormal upper limb muscles peter 2008-04-07T10:40:00Z UMLS:C4025779 human_phenotype owl:Class HP:0041177 biolink:NamedThing Fractured distal phalanx of manual digit 3 A partial or complete breakage of the distal phalanx of manual digit 3. hp0009lx5z bone distal phalanx of manual digit 3 owl:Class HP:0041174 biolink:NamedThing Fractured distal phalanx of manus A partial or complete breakage of the distal phalanx of manus. hp0009lx5z bone distal phalanx of manus owl:Class HP:0030854 biolink:NamedThing Scleral staphyloma A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. hp0009lx5z Staphyloma Most staphylomas occur in the posterior pole, usually due to pathological or degenerative myopia. Anterior staphylomas are less frequent. They generally occur after longstanding mistreated or untreated infections in a previously healthy eye and are commonly associated with fungal corneal ulcers. In other cases, they may follow chronic inflammatory diseases such as necrotizing scleritis. SNOMEDCT_US:111534007|UMLS:C0155359 owl:Class HP:0100779 biolink:NamedThing Urogenital sinus anomaly A rare birth defect in women where the urethra and vagina both open into a common channel. hp0009lx5z doelkens 2011-06-07T05:45:10Z UMLS:C4021972 human_phenotype owl:Class HP:0000795 biolink:NamedThing Abnormality of the urethra An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. hp0009lx5z Urethra issue UMLS:C4025826 human_phenotype owl:Class HP:0012549 biolink:NamedThing Conjunctival lipoma A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva. hp0009lx5z Conjunctival lipoma displays yellowish-pink stromal mass, histologically with large lipid vacuoles surrounded by stellate cells. peter 2014-01-01T03:13:56Z NCIT:C3192|UMLS:C4022854 human_phenotype owl:Class HP:0011238 biolink:NamedThing Prominent inferior crus of antihelix Increased protrusion of the inferior crus relative to the prominence of the antihelix stem. hp0009lx5z Antihelix, inferior crus, prominent|Hypertrophic inferior crus of antihelix|Hyperplastic inferior crus of antihelix peter 2011-12-18T11:24:43Z UMLS:C4021195 human_phenotype owl:Class HP:0011243 biolink:NamedThing Abnormality of inferior crus of antihelix An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. hp0009lx5z Abnormality of anterior crus of antihelix The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. peter 2011-12-18T11:41:44Z UMLS:C4021191 human_phenotype owl:Class HP:0009981 biolink:NamedThing Partial duplication of the distal phalanx of the 4th finger Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Notched outermost bone of the ring finger|Partial duplication of the outermost bone of the ring finger|Bifid terminal phalanx of the 4th finger doelkens 2009-05-26T02:20:37Z UMLS:C4021355 human_phenotype owl:Class HP:0009130 biolink:NamedThing Hand muscle atrophy Muscular atrophy involving the muscles of the hand. hp0009lx5z Amyotrophy involving the musculature of the hand|Amyotrophy of hand muscles|Hand muscle wasting, bilateral|Hand muscle degeneration|Hand muscle wasting This term can be used to described bilateral amyotrophy of the musculature of the hand. peter 2008-04-07T05:01:00Z HP:0006967|HP:0008951|HP:0009038|HP:0008934 UMLS:C0239830 human_phenotype owl:Class HP:0040270 biolink:NamedThing Impaired glucose tolerance An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. hp0009lx5z Decreased glucose tolerance|Glucose tolerance decreased MP:0005291|UMLS:C0151671 owl:Class HP:0001952 biolink:NamedThing Glucose intolerance Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). hp0009lx5z Abnormal glucose tolerance|Glucose intolerance HP:0000833 UMLS:C0235401 owl:Class HP:0005390 biolink:NamedThing Recurrent opportunistic infections Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. hp0009lx5z Frequent opportunistic infections HP:0005426 UMLS:C1832324 human_phenotype owl:Class HP:0100932 biolink:NamedThing Sclerosis of the proximal phalanx of the 3rd toe An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in the innermost bone of the 3rd toe UMLS:C4021926 human_phenotype owl:Class HP:0003321 biolink:NamedThing Biconcave flattened vertebrae hp0009lx5z HP:0005782 UMLS:C1833753 human_phenotype owl:Class HP:0004586 biolink:NamedThing Biconcave vertebral bodies Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. hp0009lx5z Biconcave vertebrae|Scalloping of vertebral bodies|Fish vertebrae|Codfish vertebrae|Biconcave 'codfish' vertebrae This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies. HP:0002952|HP:0004561|HP:0004620 UMLS:C1856087 human_phenotype owl:Class HP:0009224 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 4th finger A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. hp0009lx5z Delta-shaped epiphysis of the middle phalanx of the 4th finger|Triangular end part of the middle bone of the ring finger doelkens 2009-01-05T05:23:59Z UMLS:C4021510 human_phenotype owl:Class HP:0010267 biolink:NamedThing Triangular epiphyses of the middle phalanges of the hand hp0009lx5z Triangular end part of the middle hand bones doelkens 2009-07-06T04:24:15Z UMLS:C4023934 human_phenotype owl:Class HP:0009375 biolink:NamedThing Bullet-shaped phalanges of the 5th finger A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped little finger bones|Bullet-shaped pinkie finger bones|Bullet-shaped pinky finger bones doelkens 2009-01-13T10:58:05Z UMLS:C4024411 human_phenotype owl:Class HP:0009769 biolink:NamedThing Bullet-shaped phalanges of the hand The presence of short and wide phalanges which taper distally ("bullet shaped"). hp0009lx5z Conical bullet-shaped distal ends of phalanges|Bullet-shaped phalanges of the hands|Bullet-shaped hand bones doelkens 2009-02-02T11:38:04Z HP:0006139|HP:0004270 UMLS:C1854952 human_phenotype owl:Class HP:0100703 biolink:NamedThing Tongue thrusting hp0009lx5z Tongue thrusting doelkens 2011-03-31T12:54:41Z UMLS:C1829460|SNOMEDCT_US:110343009|SNOMEDCT_US:424583005 human_phenotype owl:Class HP:0025566 biolink:NamedThing Anterior chamber cells grade 4+ Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp0009lx5z 2017-12-14 13:24:54+00:00 HPO:probinson owl:Class HP:0025560 biolink:NamedThing Anterior chamber cells Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp0009lx5z 2017-12-14 13:00:02+00:00 HPO:probinson owl:Class HP:0003355 biolink:NamedThing Aminoaciduria An increased concentration of an amino acid in the urine. hp0009lx5z Hyperaminoaciduria|Abnormal urinary amino-acid findings|Increased levels of animo acids in urine|High urine amino acid levels HP:0008335|HP:0002903|HP:0200014 UMLS:C0238621|SNOMEDCT_US:35912001|UMLS:C4020843 owl:Class HP:0000918 biolink:NamedThing Scapular exostoses The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. hp0009lx5z Scapulae exostoses|Shoulder bone exostoes UMLS:C1851415 human_phenotype owl:Class HP:0031834 biolink:NamedThing Aortopulmonary collateral arteries Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. hp0009lx5z 2018-05-04 03:10:02+00:00 peter owl:Class HP:0007452 biolink:NamedThing Midface capillary hemangioma hp0009lx5z Midfacial capillary hemangioma HP:0007611 UMLS:C1849377 human_phenotype owl:Class HP:0500199 biolink:NamedThing Abnormal CSF glutamate concentration Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid. hp0009lx5z Abnormal glutamic acid levels in cerebrospinal fluid 2019-02-25 16:56:56+00:00 owl:Class HP:0033964 biolink:NamedThing Interlobular intima/media venosclerosis Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. hp0009lx5z Venosclerosis within interlobular vein intima/media 2021-06-24 12:46:18+00:00 peter owl:Class HP:0033963 biolink:NamedThing Abnormal interlobular vein intima/media morphology Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. hp0009lx5z 2021-06-24 12:45:15+00:00 peter owl:Class HP:0002996 biolink:NamedThing Limited elbow movement hp0009lx5z Limited elbow mobility|Decreased elbow mobility|Restricted elbow motion|Limited elbow movement HP:0006395 UMLS:C1849955 human_phenotype owl:Class HP:0009811 biolink:NamedThing Abnormality of the elbow An anomaly of the joint that connects the upper and the lower arm. hp0009lx5z Abnormality of the elbows|Abnormality of the elbow doelkens 2009-02-23T04:59:43Z HP:0002966 UMLS:C4021386 human_phenotype owl:Class HP:0010246 biolink:NamedThing Absent epiphyses of the distal phalanges of the hand hp0009lx5z Absent end part of the outermost hand bones doelkens 2009-07-06T04:23:06Z UMLS:C4023953 human_phenotype owl:Class HP:0031787 biolink:NamedThing Oblique astigmatism Astigmatism in which the refractive power of the vertical meridian is the greatest. hp0009lx5z 2018-01-28 13:31:31+00:00 peter owl:Class HP:0000483 biolink:NamedThing Astigmatism A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. hp0009lx5z Astigmatism|Abnormal curving of the cornea or lens of the eye The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. UMLS:C0004106|MSH:D001251|SNOMEDCT_US:82649003 owl:Class HP:0012885 biolink:NamedThing Fallopian tube duplication The presence of a supernumerary Fallopian tube. hp0009lx5z Accessory fallopian tube Accessory fallopian tube is the congenital anomaly attached to the ampullary part of main tube. This accessory tube is common site of pyosalpinx, hydrosalpinx, cystic swelling and torsion. hecht 2014-06-11T08:05:41Z SNOMEDCT_US:48672005|UMLS:C0266375 human_phenotype owl:Class HP:0011027 biolink:NamedThing Abnormal fallopian tube morphology An abnormality of the fallopian tube. hp0009lx5z Abnormality of the fallopian tube The Fallopian tubes (also known as oviducts, uterine tubes, and salpinges) are ducts that lead from the ovaries into the uterus. peter 2011-03-02T06:36:01Z UMLS:C0281842 human_phenotype owl:Class HP:0007185 biolink:NamedThing Loss of consciousness hp0009lx5z Loss of consciousness|Passing out SNOMEDCT_US:419045004|SNOMEDCT_US:418107008|UMLS:C0041657|MSH:D014474 human_phenotype owl:Class HP:0004372 biolink:NamedThing Reduced consciousness/confusion hp0009lx5z Lowered consciousness|Reduced consciousness/confusion|Disturbances of consciousness peter 2008-03-18T07:12:00Z UMLS:C0234428|SNOMEDCT_US:3006004 human_phenotype owl:Class HP:0025406 biolink:NamedThing Asthenia A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. hp0009lx5z Weakness|Lack of energy and strength 2017-04-22 14:48:03+00:00 Asthenia is to be distinguished from fatigue, because asthenia refers to a sensation of exhaustion which occurs before any effort. Asthenia is to be distinguished from myasthenia, which means a specific weakness of one or more muscles. Asthenia and fatigue can coexist. HPO:probinson owl:Class HP:0025142 biolink:NamedThing Constitutional symptom A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. hp0009lx5z 2016-11-29 11:02:54+00:00 Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. HPO:probinson owl:Class HP:0009011 biolink:NamedThing Hypoplasia of serratus anterior muscle Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula. hp0009lx5z UMLS:C1868167 human_phenotype owl:Class HP:0010030 biolink:NamedThing Osteolytic defects of the 1st metacarpal Dissolution or degeneration of bone tissue of the 1st metacarpal. hp0009lx5z Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). doelkens 2009-05-27T04:24:30Z UMLS:C4024094 human_phenotype owl:Class HP:0001504 biolink:NamedThing Metacarpal osteolysis hp0009lx5z Metacarpals osteolysis UMLS:C1854610 human_phenotype owl:Class HP:0040155 biolink:NamedThing Elevated urinary 3-hydroxybutyric acid An increased amount of 3-hydroxybutyric acid in the urine. hp0009lx5z HPO:skoehler UMLS:C4022414 owl:Class HP:0032078 biolink:NamedThing Angel-shaped phalanx A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head). hp0009lx5z 2018-10-14 13:49:41+00:00 In some cases an ASP can grow into an inconspicuous brachydactyly after physeal closure. peter owl:Class HP:0006813 biolink:NamedThing Focal hemiclonic seizure A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. hp0009lx5z Unilateral clonic seizures|Hemiclonic seizure|Hemiclonic seizures|Unilateral clonic seizure A seizure type typically occurring in certain epilepsy syndromes, such as Dravet syndrome and self-limited neonatal seizures. UMLS:C1846620 human_phenotype owl:Class HP:0010997 biolink:NamedThing Chromosomal breakage induced by ionizing radiation Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. hp0009lx5z Increased cellular radiosensitivity|Chromosomal breakage induced by ionising radiation|Radiation-induced chromosome instability Increased tendency to chromosomal breakage induced by crosslinking agents is typical for several disorders including ataxia teleangiectasia and Nijmegen breakage syndrome. peter 2011-02-10T06:10:33Z UMLS:C4021206 human_phenotype owl:Class HP:0040012 biolink:NamedThing Chromosome breakage Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. hp0009lx5z Increased chromosomal breakage rate|Multiple chromosomal breaks|Tendency to chromosomal breakage|High frequency of chromosome breaks in lymphocytes|Increased chromosomal breakage HPO:skoehler UMLS:C0376628|MSH:D019457 owl:Class HP:0008037 biolink:NamedThing Absent anterior chamber of the eye Absence of the anterior chamber of the eye owing to a developmental defect. hp0009lx5z SNOMEDCT_US:55457007|SNOMEDCT_US:404675003|UMLS:C0271004 human_phenotype owl:Class HP:0000593 biolink:NamedThing Abnormal anterior chamber morphology Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. hp0009lx5z Ocular anterior chamber abnormality|Abnormality of the anterior chamber|Anterior chamber anomalies SNOMEDCT_US:204142009|UMLS:C3152182 human_phenotype owl:Class HP:0007041 biolink:NamedThing Chronic lymphocytic meningitis Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF). hp0009lx5z SNOMEDCT_US:230154004|UMLS:C0393441 human_phenotype owl:Class HP:0032350 biolink:NamedThing Sulfocysteinuria A increased concentration of sulfocysteine in the urine. hp0009lx5z 2019-02-23 16:43:08+00:00 peter owl:Class HP:0033100 biolink:NamedThing Increased proteinogenic amino acid level in urine An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. hp0009lx5z peter owl:Class HP:0032886 biolink:NamedThing Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0032702 biolink:NamedThing Focal cognitive seizure with expressive dysphasia/aphasia A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation. hp0009lx5z Expressive dysphasia / aphasia is the inability to express one's thoughts despite being aware of what they wished to say because of a disorder of language rather than articulation. peter owl:Class HP:0010085 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the hallux hp0009lx5z Absent/small innermost big toe bone|Absent/underdeveloped innermost big toe bone doelkens 2009-05-29T12:17:16Z UMLS:C4024061 human_phenotype owl:Class HP:0032027 biolink:NamedThing Retinal dots Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. hp0009lx5z 2018-09-01 14:43:45+00:00 peter owl:Class HP:0032950 biolink:NamedThing Abnormal renal tubular lumen morphology Abnormal structure or form of the lumen (opening) of kidney tubules. hp0009lx5z Abnormal renal tubular luminal morphology peter owl:Class HP:0009402 biolink:NamedThing Stippling of the epiphyses of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger. hp0009lx5z Speckled calcifications in end part of ring finger bone doelkens 2009-01-13T01:59:12Z UMLS:C4024388 human_phenotype owl:Class HP:0100144 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe. hp0009lx5z Speckled calcifications in the end part of the outermost bone of the 3rd toe doelkens 2010-06-24T10:23:44Z UMLS:C4022277 human_phenotype owl:Class HP:0100091 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 3rd toe hp0009lx5z Abnormality of the end part of the outermost bone of the 3rd toe doelkens 2010-06-24T10:02:07Z UMLS:C4022330 human_phenotype owl:Class HP:0012302 biolink:NamedThing Herpes simplex encephalitis A severe virus infection of the central nervous system by the herpes simplex virus (HSV). hp0009lx5z Although infection with HSV is very common in the population, only a miniscule proportion of infected persons develop encephalitis, so that an occurrence of HSV encephalitis is interpreted as a sign of increased susceptibility to HSV. peter 2013-04-14T02:43:10Z SNOMEDCT_US:428638009|UMLS:C0276226|MSH:D020803 human_phenotype owl:Class HP:0032101 biolink:NamedThing Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. hp0009lx5z 2018-11-04 22:23:03+00:00 peter owl:Class HP:0009909 biolink:NamedThing Uplifted earlobe An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. hp0009lx5z Lobe, uplifted|Uplifted earlobe|Uplifted earlobes|Upturned earlobes|Upturned earlobe|Fleshy upturned lobules This finding is characteristic of Mowat-Wilson syndrome. peter 2009-05-01T03:02:07Z HP:0009764 UMLS:C1856117 human_phenotype owl:Class HP:0000363 biolink:NamedThing Abnormality of earlobe An abnormality of the lobule of pinna. hp0009lx5z Abnormality of ear lobe|Abnormality of auricular lobule|Abnormality of lobulus auriculae|Abnormal earlobe|Abnormality of earlobe|Abnormal lobe of ear UMLS:C4021808 human_phenotype owl:Class HP:0500257 biolink:NamedThing Increased urine isobutyrylglycine concentration Elevated concentration of isobutyrylglycine in the urine. hp0009lx5z High urinary isobutyrylglycine levels 2019-03-08 21:15:36+00:00 owl:Class HP:0500256 biolink:NamedThing Abnormal urine isobutyrylglycine concentration Abnormal concentration of isobutyrylglycine in the urine. hp0009lx5z Abnormal urinary isobutyrylglycine levels 2019-03-08 21:14:32+00:00 owl:Class HP:0040165 biolink:NamedThing Periostitis Inflammation of the periosteum hp0009lx5z Periostalgia UMLS:C0031111|SNOMEDCT_US:41910004|MSH:D010522 owl:Class HP:0030313 biolink:NamedThing Abnormal periosteum morphology An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones. hp0009lx5z UMLS:C4022515 owl:Class HP:0040260 biolink:NamedThing Decreased size of nasopharyngeal adenoids An abnormal decrease in the size of nasopharyngeal adenoids. hp0009lx5z UMLS:C4280689 owl:Class HP:0040257 biolink:NamedThing Abnormal size of nasopharyngeal adenoids A deviation in the size of nasopharyngeal adenoids. hp0009lx5z UMLS:C4280692 owl:Class HP:0000570 biolink:NamedThing Abnormal saccadic eye movements An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. hp0009lx5z Abnormality of saccadic eye movements|Impaired saccades Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades. HP:0000604 UMLS:C1842584|UMLS:C4025841 human_phenotype owl:Class HP:0000496 biolink:NamedThing Abnormality of eye movement An abnormality in voluntary or involuntary eye movements or their control. hp0009lx5z Eye movement issue|Abnormal eye motility|Abnormal eye movement|Ocular movement abnormalities|Abnormal motility of the globe of the eye|Abnormal ocular movements|Eye movement abnormalities|Abnormal movement of the globe of the eye|Abnormal extraocular movement|Abnormal extraocular movements|Oculomotor abnormalities|Abnormality of eye movement|Abnormal eye movements HP:0006860 UMLS:C0497202|SNOMEDCT_US:103252009 owl:Class HP:0007443 biolink:NamedThing Partial albinism Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. hp0009lx5z Congenital partial leucoderma|Partial absent skin pigmentation|Congenital partial albinism on face, trunk, or limbs HP:0001044 MSH:D016116|SNOMEDCT_US:6479008|SNOMEDCT_US:718122005|UMLS:C0080024 human_phenotype owl:Class HP:0009225 biolink:NamedThing Aplasia of the proximal phalanx of the 5th finger Absence of the proximal phalanx of the little (5th) finger. hp0009lx5z Absent innermost bone of pinkie finger|Absent innermost bone of little finger|Absent innermost bone of pinky finger doelkens 2009-01-05T06:00:33Z UMLS:C4024517 human_phenotype owl:Class HP:0011471 biolink:NamedThing Gastrostomy tube feeding in infancy Feeding problem necessitating gastrostomy tube feeding. hp0009lx5z PEG-fed in infancy This is an extremely severe form of feeding problems in infancy. peter 2012-03-25T10:00:00Z UMLS:C4023342|UMLS:C4020748 human_phenotype owl:Class HP:0008872 biolink:NamedThing Feeding difficulties in infancy Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. hp0009lx5z HP:0002016|HP:0002568|HP:0002022 UMLS:C2674608 human_phenotype owl:Class HP:0008946 biolink:NamedThing Pelvic girdle amyotrophy Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. hp0009lx5z Hip girdle amyotrophy UMLS:C4021528 human_phenotype owl:Class HP:0003797 biolink:NamedThing Limb-girdle muscle atrophy Muscular atrophy affecting the muscles of the limb girdle. hp0009lx5z Limb-girdle myopathy|Wasting of limb-girdle muscle UMLS:C1404521|UMLS:C1842552 human_phenotype owl:Class HP:0005278 biolink:NamedThing Hypoplastic nasal tip hp0009lx5z Deficient nasal tip|Hypoplasia of tip of nose|Hypotrophic tip of nose|Small tip of nose|Decreased size of tip of nose|Decreased size of nasal tip|Small nasal tip|Underdevelopment of nasal tip|Aplasia of nasal tip|Underdevelopment of tip of nose|Hypotrophic nasal tip UMLS:C4280496|UMLS:C1844731|UMLS:C4280497 human_phenotype owl:Class HP:0010241 biolink:NamedThing Short proximal phalanx of finger Congenital hypoplasia of one or more proximal phalanx of finger. hp0009lx5z Hypoplasia of the proximal phalanges of the hand|Short proximal phalanx of finger|Shortening in proximal phalanges|Short proximal phalanges|Short innermost finger bones doelkens 2009-07-06T04:00:44Z HP:0005670|HP:0006138 UMLS:C1860606 human_phenotype owl:Class HP:0025478 biolink:NamedThing Atrial standstill Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram. hp0009lx5z Silent atrium 2017-05-14 13:28:03+00:00 HPO:probinson owl:Class HP:0005115 biolink:NamedThing Supraventricular arrhythmia A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. hp0009lx5z arrhythmias, Supraventricular Supraventricular arrhythmia includes atrial arrhythmias (atrial tachycardia, atrial flutter, atrial fibrillation), atrioventricular nodal reentrant tachycardia, junctional ectopic tachycardia, atrioventricular reentrant tachycardia (Wolf-Parkinson-White Syndrome), orthodromic or antidromic. Supraventricular arrhythmia is distinct from ventricular tachycardia, which originates in the ventricles. peter 2008-03-25T06:37:00Z SNOMEDCT_US:72654001|UMLS:C0428974 human_phenotype owl:Class HP:0031699 biolink:NamedThing Disseminated cryptosporidium infection Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body. hp0009lx5z 2017-12-17 22:46:38+00:00 peter owl:Class HP:0020104 biolink:NamedThing Unusual protozoan infection An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent. hp0009lx5z 2019-04-08 19:21:25+00:00 robinp owl:Class HP:0000309 biolink:NamedThing Abnormality of the midface An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. hp0009lx5z Anomaly of the midface|Abnormality of the midface|Deformity of the midface|Malformation of the midface UMLS:C4021811 human_phenotype owl:Class HP:0005550 biolink:NamedThing Chronic lymphatic leukemia A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias. hp0009lx5z Chronic lymphocytic leukaemia|Chronic lymphocytic leukemia|Chronic lymphatic leukaemia HP:0006734|HP:0006760 SNOMEDCT_US:51092000|SNOMEDCT_US:92814006|UMLS:C0023434|MSH:D015451|SNOMEDCT_US:277473004 human_phenotype owl:Class HP:0005558 biolink:NamedThing Chronic leukemia A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. hp0009lx5z Chronic leukaemia|Chronic blood cancer peter 2008-03-27T10:32:00Z SNOMEDCT_US:128933000|SNOMEDCT_US:92812005|UMLS:C4280478|UMLS:C1279296 human_phenotype owl:Class HP:0001598 biolink:NamedThing Concave nail The natural longitudinal (posterodistal) convex arch is not present or is inverted. hp0009lx5z Koilonychia|Spoon-shaped nails Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. HP:0001815 UMLS:C0221261|SNOMEDCT_US:66270006 human_phenotype owl:Class HP:0010921 biolink:NamedThing Coralliform cataract A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form. hp0009lx5z peter 2010-12-12T12:16:28Z UMLS:C1392104 human_phenotype owl:Class HP:0010920 biolink:NamedThing Zonular cataract Zonular cataracts are defined to be cataracts that affect specific regions of the lens. hp0009lx5z Zonular cataracts include specific regions of the lens and include nuclear cataracts, which affect the fetal or embryonic lens nucleus and lamellar cataracts. These tend to affect lens fibers that are formed at the same time, resulting in a shell like opacity. Zonular cataracts can also be characterized as dense or pulverulent (dusty appearing), and can be accompanied by arcuate opacities extending into the lens cortex, called cortical riders. peter 2010-12-12T12:00:37Z HP:0007713 UMLS:C1861821|MSH:C535342 human_phenotype owl:Class HP:0006134 biolink:NamedThing Enlarged metacarpal epiphyses Abnormally large size of the metaphyseal epiphyses. hp0009lx5z Enlarged end part of long bone of hand UMLS:C1865035 human_phenotype owl:Class HP:0010580 biolink:NamedThing Enlarged epiphyses Increased size of epiphyses. hp0009lx5z Large end part of bone|Large epiphyses|Widened, distorted epiphyses sandra1 2009-10-22T02:53:19Z HP:0003018|HP:0005082|HP:0003055 UMLS:C1833328 human_phenotype owl:Class HP:0002341 biolink:NamedThing Cervical cord compression Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. hp0009lx5z Cervical cord compression myelopathy HP:0007145 UMLS:C0852866 human_phenotype owl:Class HP:0002176 biolink:NamedThing Spinal cord compression External mechanical compression of the spinal cord. hp0009lx5z Pressure on spinal cord Clinical abnormalities vary according to the site of the compression any may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors. SNOMEDCT_US:71286001|MSH:D013117|UMLS:C0037926 human_phenotype owl:Class HP:0008055 biolink:NamedThing Aplasia/Hypoplasia affecting the uvea Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. hp0009lx5z Absent/underdeveloped uvea peter 2008-04-02T03:24:00Z UMLS:C4024746 human_phenotype owl:Class HP:0008056 biolink:NamedThing Aplasia/Hypoplasia affecting the eye hp0009lx5z Absent/underdeveloped eye|Absent/small eye peter 2008-04-02T03:25:00Z UMLS:C4024745 human_phenotype owl:Class HP:0007015 biolink:NamedThing Poor gross motor coordination An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts. hp0009lx5z Gross motor impairment UMLS:C1867863 human_phenotype owl:Class HP:0002275 biolink:NamedThing Poor motor coordination hp0009lx5z Poor motor coordination UMLS:C1848453 human_phenotype owl:Class HP:0000472 biolink:NamedThing Long neck Increased inferior-superior length of the neck. hp0009lx5z Increased cervical length|Long neck|Increased length of neck|Cervical elongation|Elongated neck UMLS:C1839816 human_phenotype owl:Class HP:0033686 biolink:NamedThing Mitochondrial hypertrophy Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM. hp0009lx5z Megamitochondria 2021-03-07 22:44:15+00:00 peter owl:Class HP:0012087 biolink:NamedThing Abnormal mitochondrial shape An anomaly in the surface contour of mitochondria. hp0009lx5z peter 2012-09-08T11:02:39Z UMLS:C4023050 human_phenotype owl:Class HP:0030782 biolink:NamedThing Abnormal serum interleukin level An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. hp0009lx5z Abnormal serum IL level UMLS:C4280772 owl:Class HP:0011112 biolink:NamedThing Abnormality of serum cytokine level Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. hp0009lx5z peter 2011-06-12T09:03:40Z UMLS:C4023535|MP:0010210 human_phenotype owl:Class HP:0010442 biolink:NamedThing Polydactyly A congenital anomaly characterized by the presence of supernumerary fingers or toes. hp0009lx5z More than five fingers or toes on hands or feet doelkens 2009-07-29T01:39:27Z HP:0006123|HP:0006034|HP:0006046|HP:0009605 UMLS:C0152427|Fyler:4103|MSH:D017689|SNOMEDCT_US:367506006 human_phenotype owl:Class HP:0011297 biolink:NamedThing Abnormal digit morphology A morphological abnormality of a digit, i.e., of a finger or toe. hp0009lx5z Digital anomalies|Abnormality of fingers or toes|Abnormality of digit peter 2012-02-11T07:16:22Z UMLS:C3550704 human_phenotype owl:Class HP:0000282 biolink:NamedThing Facial edema hp0009lx5z Facial swelling|Facial oedema|Facial puffiness SNOMEDCT_US:445088006|UMLS:C0542571 human_phenotype owl:Class HP:0011799 biolink:NamedThing Abnormality of facial soft tissue hp0009lx5z Deformity of facial soft tissue|Malformation of facial soft tissue|Anomaly of facial soft tissue|Abnormality of facial soft tissue peter 2012-04-23T07:27:57Z UMLS:C4023183 human_phenotype owl:Class HP:0010100 biolink:NamedThing Complete duplication of hallux phalanx Complete duplication of one or more phalanx of big toe. hp0009lx5z Complete duplication of the phalanges of the hallux|Complete duplication of big toe bones doelkens 2009-05-29T12:22:12Z UMLS:C4021336 human_phenotype owl:Class HP:0010066 biolink:NamedThing Duplication of phalanx of hallux Partial or complete duplication of one or more phalanx of big toe. hp0009lx5z Duplication of phalanx of big toe|Duplicated hallux|Partial/complete duplication of the phalanges of the hallux|Duplication of big toe bone|Duplication of great toes|Hallucal duplication doelkens 2009-05-29T12:10:46Z HP:0001784|HP:0005851|HP:0005785 UMLS:C4020691|UMLS:C1860164 human_phenotype owl:Class HP:0031610 biolink:NamedThing Recurrent shoulder dislocation Shoulder dislocation occurring repeated times. hp0009lx5z Multiple shoulder dislocation 2017-12-11 10:45:31+00:00 peter owl:Class HP:0031869 biolink:NamedThing Recurrent joint dislocation Dislocation of a given joint repeated times. hp0009lx5z 2018-05-06 13:19:21+00:00 peter owl:Class HP:0030872 biolink:NamedThing Abnormal cardiac ventricular function An abnormality of the cardiac ventricular function. hp0009lx5z UMLS:C4280733 owl:Class HP:0100002 biolink:NamedThing Pleural mesothelioma A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma. hp0009lx5z doelkens 2010-05-11T04:16:23Z UMLS:C0812413|SNOMEDCT_US:254645002|NCIT:C3234 human_phenotype owl:Class HP:0011402 biolink:NamedThing Demyelinating sensory neuropathy Demyelination of peripheral sensory nerves. hp0009lx5z peter 2012-03-12T08:28:12Z UMLS:C4023373 human_phenotype owl:Class HP:0000108 biolink:NamedThing Renal corticomedullary cysts The presence of multiple cysts at the border between the renal cortex and medulla. hp0009lx5z Renal corticomedullary cystic disease|Corticomedullary renal cysts UMLS:C1968619 human_phenotype owl:Class HP:0011035 biolink:NamedThing Abnormal renal cortex morphology An abnormality of the cortex of the kidney. hp0009lx5z Abnormality of renal cortex morphology peter 2011-03-06T11:31:39Z UMLS:C4023580 human_phenotype owl:Class HP:0000559 biolink:NamedThing Corneal scarring hp0009lx5z MSH:D065306|UMLS:C0349702|SNOMEDCT_US:95726001 human_phenotype owl:Class HP:0100699 biolink:NamedThing Scarring hp0009lx5z Scar tissue|Scarring koehlers 2011-03-29T06:39:56Z MSH:D002921|SNOMEDCT_US:48677004|UMLS:C0008767 human_phenotype owl:Class HP:0004947 biolink:NamedThing Arteriovenous fistula An abnormal connection between an artery and vein. hp0009lx5z Arteriovenous fistulas HP:0004946 SNOMEDCT_US:439470001|MSH:D001164|UMLS:C0003855|SNOMEDCT_US:128617001 human_phenotype owl:Class HP:0033156 biolink:NamedThing Elevated urine L-alloisoleucine level Abnormally increased level of L-alloisoleucine in the urine. hp0009lx5z 2020-09-20 12:04:00+00:00 Elevated alloisoleucine in serum or urine is characteristic of Maple syrup urine disease. peter owl:Class HP:0006213 biolink:NamedThing Thin proximal phalanges with broad epiphyses of the hand hp0009lx5z Thin innermost bone with broad end part of the hand bone|Thin proximal phalanges with broad epiphyses removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal)) UMLS:C4025079|UMLS:C1862156 human_phenotype owl:Class HP:0100595 biolink:NamedThing Camptocormia An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. hp0009lx5z doelkens 2010-12-27T04:55:11Z SNOMEDCT_US:13534001|MSH:C537968|UMLS:C0264162 human_phenotype owl:Class HP:0025112 biolink:NamedThing Sound sensitivity Decreased tolerance to sound. hp0009lx5z Noise sensitivity 2016-11-01 01:30:30+00:00 Sound sensitivity impliees a difficulty tolerating sounds which do not seem loud or unpleasant to others. HPO:probinson owl:Class HP:0040158 biolink:NamedThing Short intermamillary distance hp0009lx5z HPO:skoehler UMLS:C4022411 owl:Class HP:0003019 biolink:NamedThing Abnormality of the wrist Abnormality of the wrist, the structure connecting the hand and the forearm. hp0009lx5z Abnormality of the wrist|Abnormalities of the wrists HP:0001224 UMLS:C4021744 human_phenotype owl:Class HP:0003789 biolink:NamedThing Minicore myopathy Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. hp0009lx5z HP:0003804 MSH:C564969|UMLS:C1850674 human_phenotype owl:Class HP:0003198 biolink:NamedThing Myopathy A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. hp0009lx5z Myopathic changes|Muscle tissue disease The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. HP:0003705|HP:0003569|HP:0003742|HP:0003802 SNOMEDCT_US:129565002|MSH:D009135|UMLS:C0026848 human_phenotype owl:Class HP:0100849 biolink:NamedThing Neoplasm of the scrotum A tumor (abnormal growth of tissue) of the scrotum. hp0009lx5z Scrotum tumour|Scrotum tumor|Neoplasia of the scrotum doelkens 2011-06-17T01:37:49Z UMLS:C0341790|NCIT:C3262|SNOMEDCT_US:126905005 human_phenotype owl:Class HP:0100848 biolink:NamedThing Neoplasm of the male external genitalia A tumor (abnormal growth of tissue) of the male external genitalia. hp0009lx5z Neoplasia of the male external genitalia doelkens 2011-06-17T01:33:06Z NCIT:C3262|UMLS:C4020950 human_phenotype owl:Class HP:0041225 biolink:NamedThing Fractured metacarpal bone of digit 1 A partial or complete breakage of the metacarpal bone of digit 1. hp0009lx5z bone metacarpal bone of digit 1 owl:Class HP:0004277 biolink:NamedThing Fractured hand bones hp0009lx5z Fractured hand bones|Broken hand bones UMLS:C0435632|SNOMEDCT_US:20511007 human_phenotype owl:Class HP:4000008 biolink:NamedThing Formation of multiple pronuclei during fertilization Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. hp0009lx5z 2021-04-25 23:27:41+00:00 Three pro-nuclei (3PN) prevalence among all pregnancies has been estimated to be approximately 1% to 3%, whereas it accounts for 15% to 18% of cytogenetically abnormal cases among spontaneous abortions. robinp owl:Class HP:0001311 biolink:NamedThing Abnormal nervous system electrophysiology An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. hp0009lx5z Neurophysiologic abnormality|Neurophysiologic abnormalities HP:0002531|HP:0003129 UMLS:C4021781 owl:Class HP:0010537 biolink:NamedThing Wide cranial sutures An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). hp0009lx5z Widened cranial sutures|open cranial sutures|Large cranial suture|Persistent open cranial sutures|Broad cranial sutures peter 2009-09-21T09:50:28Z SNOMEDCT_US:268855009|UMLS:C0410935 human_phenotype owl:Class HP:0011329 biolink:NamedThing Abnormality of cranial sutures Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. hp0009lx5z Abnormality of the skull suture|Abnormality of the bregma sutures|Abnormality of the cranial sutures|Abnormality of cranial sutures|Abnormality of the calvarium sutures peter 2012-02-25T03:33:56Z UMLS:C4023412 human_phenotype owl:Class HP:0008786 biolink:NamedThing Iliac crest serration Irregularities of the iliac crest that produce the appearance of a lace border around it. hp0009lx5z Lacy appearance of iliac crest|Irregular lacy iliac crest HP:0008825 UMLS:C1857186 human_phenotype owl:Class HP:0003796 biolink:NamedThing Irregular iliac crest Irregularity of the iliac crest, which is the superior border of the wing of the ilium. hp0009lx5z UMLS:C1855180 human_phenotype owl:Class HP:0012133 biolink:NamedThing Erythroid hypoplasia Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. hp0009lx5z Erythroblastopenia|Erythroid hypoplasia in the bone marrow peter 2012-09-16T07:21:19Z MSH:D000741|UMLS:C0542035|SNOMEDCT_US:167923006|SNOMEDCT_US:41614006|UMLS:C0178416 human_phenotype owl:Class HP:0004922 biolink:NamedThing Atypical hyperphenylalaninemia hp0009lx5z UMLS:C4025273 human_phenotype owl:Class HP:0010893 biolink:NamedThing Abnormal circulating phenylalanine concentration Any deviation from the normal concentration of phenylalanine in the blood circulation. hp0009lx5z Abnormality of phenylalanine metabolism peter 2010-11-11T03:23:30Z UMLS:C4023672 human_phenotype owl:Class HP:0002028 biolink:NamedThing Chronic diarrhea The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. hp0009lx5z Recurrent diarrhoea|Recurrent diarrhea|Diarrhea, recurrent|Chronic diarrhoea|Chronic diarrhea UMLS:C0401151|SNOMEDCT_US:236071009 human_phenotype owl:Class HP:0002014 biolink:NamedThing Diarrhea Abnormally increased frequency of loose or watery bowel movements. hp0009lx5z Diarrhea|Watery stool|Diarrhoea SNOMEDCT_US:62315008|MSH:D003967|SNOMEDCT_US:267060006|UMLS:C0011991 human_phenotype owl:Class HP:0000505 biolink:NamedThing Visual impairment Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. hp0009lx5z Visual impairment|Loss of eyesight|Impaired vision|Poor vision HP:0007983|HP:0000516|HP:0000566|HP:0007860|HP:0007758 MSH:D014786|UMLS:C0042798|UMLS:C3665347|SNOMEDCT_US:246635007|SNOMEDCT_US:397540003|MSH:D015354|SNOMEDCT_US:7973008 human_phenotype owl:Class HP:0005234 biolink:NamedThing Neonatal intestinal obstruction hp0009lx5z UMLS:C0859974 human_phenotype owl:Class HP:0033839 biolink:NamedThing Testicular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes. hp0009lx5z Pain in testicles 2021-05-30 15:33:30+00:00 peter owl:Class HP:0011580 biolink:NamedThing Short chordae tendineae of the mitral valve Abnormally short chordae tendineae of the mitral valve. hp0009lx5z The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart. peter 2012-04-08T12:01:44Z UMLS:C4023288 human_phenotype owl:Class HP:0032819 biolink:NamedThing Neonatal bilateral clonic seizure Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral. hp0009lx5z peter owl:Class HP:0100662 biolink:NamedThing Chondritis Inflammation of cartilage. hp0009lx5z Cartilage inflammation doelkens 2010-12-30T12:57:50Z SNOMEDCT_US:46176001|UMLS:C0008439 owl:Class HP:0012649 biolink:NamedThing Increased inflammatory response A abnormal increase in the inflammatory response to injury or infection. hp0009lx5z peter 2014-02-01T01:29:58Z UMLS:C4022803 owl:Class HP:0012430 biolink:NamedThing Cerebral white matter hypoplasia Underdevelopment of the cerebral white matter. hp0009lx5z Paucity of cerebral white matter peter 2013-11-13T07:42:02Z UMLS:C4022908|UMLS:C4020727 human_phenotype owl:Class HP:0012429 biolink:NamedThing Aplasia/Hypoplasia of the cerebral white matter Absence or underdevelopment of the cerebral white matter. hp0009lx5z Absent/underdeveloped cerebral white matter|Absent/small cerebral white matter peter 2013-11-13T07:39:37Z UMLS:C4021844 human_phenotype owl:Class HP:0007990 biolink:NamedThing Hypoplastic iris stroma Underdevelopment of the stroma of iris. hp0009lx5z Iris stromal hypoplasia|Hypoplastic iris stoma|Underdeveloped iris stroma HP:0008027|HP:0007991 UMLS:C1860344 human_phenotype owl:Class HP:0007676 biolink:NamedThing Hypoplasia of the iris Congenital underdevelopment of the iris. hp0009lx5z Hypoplastic iris|Iris hypoplasia|Underdeveloped iris HP:0007998|HP:0000638|HP:0007724 UMLS:C0344539|SNOMEDCT_US:95714006 human_phenotype owl:Class HP:0004859 biolink:NamedThing Amegakaryocytic thrombocytopenia Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. hp0009lx5z UMLS:C0398639|SNOMEDCT_US:234482009 human_phenotype owl:Class HP:0001873 biolink:NamedThing Thrombocytopenia A reduction in the number of circulating thrombocytes. hp0009lx5z Low platelet count Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). HP:0008175|HP:0004838|HP:0008302|HP:0008268|HP:0001906 MSH:D013921|UMLS:C0392386|SNOMEDCT_US:415116008|SNOMEDCT_US:302215000|UMLS:C0040034 owl:Class HP:0009509 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 2nd finger A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-01-16T01:11:04Z UMLS:C4024322 human_phenotype owl:Class HP:0010253 biolink:NamedThing Pseudoepiphyses of the distal phalanges of the hand A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-07-06T04:23:06Z UMLS:C4023947 human_phenotype owl:Class HP:0000468 biolink:NamedThing Increased adipose tissue around the neck An increased amount of subcutaneous fat tissue around the neck. hp0009lx5z Increased fat around the neck UMLS:C4025850 human_phenotype owl:Class HP:0012831 biolink:NamedThing Laterality The localization with respect to the side of the body of the specified phenotypic abnormality. hp0009lx5z peter 2014-06-06T07:19:19Z SNOMEDCT_US:272741003|UMLS:C0332304 human_phenotype owl:Class HP:0012830 biolink:NamedThing Position The anatomical localization of the specified phenotypic abnormality. hp0009lx5z peter 2014-06-06T07:18:35Z UMLS:C4019252 human_phenotype owl:Class HP:0010234 biolink:NamedThing Ivory epiphyses of the phalanges of the hand Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Ivory epiphyses of the fingers|Increased bone density of end part of the hand bones|Sclerotic ivory phalangeal epiphyses doelkens 2009-07-06T03:31:52Z HP:0001210|HP:0009365 UMLS:C1857651 human_phenotype owl:Class HP:0031279 biolink:NamedThing Abnormal response to gonadotropin-releasing hormone stimulation test An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). hp0009lx5z Abnormal response to GnRH stimulation test 2017-08-13 16:47:03+00:00 This test is regarded as the gold standard to identify central precocious puberty. peter owl:Class HP:0009852 biolink:NamedThing Broad proximal phalanges of the hand Increased width of the proximal phalanges of the finger. hp0009lx5z Wide innermost finger bones of the hand|Broad innermost finger bones of the hand doelkens 2009-03-11T12:16:33Z HP:0006168 UMLS:C4024181 human_phenotype owl:Class HP:0009901 biolink:NamedThing Crumpled ear Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. hp0009lx5z Crumpled ear This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth. peter 2009-04-30T10:50:28Z UMLS:C4024166 human_phenotype owl:Class HP:0030285 biolink:NamedThing Splayed superior cerebellar peduncle Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle. hp0009lx5z UMLS:C4022536 owl:Class HP:0009762 biolink:NamedThing Facial wrinkling Excessive wrinkling of the skin of the face. hp0009lx5z Facial wrinkling peter 2009-02-01T03:12:09Z UMLS:C0262478|SNOMEDCT_US:248194004 human_phenotype owl:Class HP:0100678 biolink:NamedThing Premature skin wrinkling The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. hp0009lx5z Premature skin wrinkling|Wrinkled skin doelkens 2010-12-30T01:43:36Z HP:0200074 MEDDRA:10040954|UMLS:C0037301|MSH:D015595|SNOMEDCT_US:247434009 human_phenotype owl:Class HP:0000250 biolink:NamedThing Dense calvaria An abnormal increase of density of the bones making up the calvaria. hp0009lx5z Dense skull cap UMLS:C1854834 human_phenotype owl:Class HP:0004330 biolink:NamedThing Increased skull ossification An increase in the magnitude or amount of ossification of the skull. hp0009lx5z Hyperossification of skull|Increased calcification of skull|Sclerosis of bones of skull|Sclerosis of skull|Hyperostosis of skull|Increased Mineralization of skull peter 2008-02-28T11:54:00Z SNOMEDCT_US:17401000119104|UMLS:C4072850|UMLS:C4072851|UMLS:C0020496 human_phenotype owl:Class HP:0033482 biolink:NamedThing Limited shoulder flexion A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head. hp0009lx5z 2021-01-09 23:28:39+00:00 peter owl:Class HP:4000049 biolink:NamedThing Segmental fracture A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone. hp0009lx5z 2021-05-02 20:52:50+00:00 robinp owl:Class HP:0032549 biolink:NamedThing Persistent asymmetrical tonic neck reflex Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers. hp0009lx5z Persistent fencer's reflex|Tonic neck reflex asymmetrical and persistent 2019-06-12 10:56:12+00:00 peter owl:Class HP:0002476 biolink:NamedThing Primitive reflex The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. hp0009lx5z Archaic reflex|Primitive reflexes UMLS:C1838319 human_phenotype owl:Class HP:0001669 biolink:NamedThing Transposition of the great arteries A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. hp0009lx5z Transposition of great vessels SNOMEDCT_US:204296002|UMLS:C3536741|SNOMEDCT_US:26146002 human_phenotype owl:Class HP:0011563 biolink:NamedThing Abnormal ventriculoarterial connection An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. hp0009lx5z Abnormal ventriculoarterial connexion|Abnormal ventriculo-arterial connection The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries. peter 2012-04-08T07:32:38Z UMLS:C4023296 human_phenotype owl:Class HP:0003935 biolink:NamedThing Wide humeral diaphysis Increased width of the humeral diaphysis. hp0009lx5z Wide shaft of long bone in upper arm|Broad humeral diaphysis|Broad shaft of long bone in upper arm UMLS:C4021704 human_phenotype owl:Class HP:0025210 biolink:NamedThing Triggered by glucose ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose. hp0009lx5z 2016-12-10 13:48:59+00:00 HPO:probinson owl:Class HP:0025208 biolink:NamedThing Triggered by carbohydrate ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates. hp0009lx5z Carbohydrate ingestion triggered symptoms|Triggered by carbohydrate ingestion 2016-12-10 13:46:32+00:00 HPO:probinson owl:Class HP:0032743 biolink:NamedThing Focal aware emotional seizure with crying Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout. hp0009lx5z peter owl:Class HP:0010820 biolink:NamedThing Focal emotional seizure with crying Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. hp0009lx5z Dacrystic seizures|Dacrystic seizure Crying is a rare feature of an epileptic seizure, and is more commonly a feature of a non-epileptic seizure. The word dacrystic is derived from the Greek word dakryon (tear). peter 2010-07-10T03:23:32Z UMLS:C4023693 human_phenotype owl:Class HP:0000143 biolink:NamedThing Rectovaginal fistula The presence of a fistula between the vagina and the rectum. hp0009lx5z Abnormal connection between rectum and vagina SNOMEDCT_US:65619001|MSH:D012006|MEDDRA:10051097|UMLS:C0034895 human_phenotype owl:Class HP:0040102 biolink:NamedThing Osseous atresia of the external auditory canal hp0009lx5z HPO:skoehler UMLS:C4022439 owl:Class HP:0000413 biolink:NamedThing Atresia of the external auditory canal Absence or failure to form of the external auditory canal. hp0009lx5z Atretic external auditory canals|External auditory meatal atresia|Absent auditory canals|Absent external auditory canals|Auditory canal atresia|External auditory canal atresia|Atretic external auditory canal|External auditory meatus atresia|Atretic auditory canals|Atretic auditory canal|External acoustic meatus atresia|Atresia of the external auditory canals|Absent ear canal HP:0008626|HP:0008564|HP:0008547 UMLS:C1857079|UMLS:C1398325|UMLS:C1866190|UMLS:C1840305 human_phenotype owl:Class HP:0002726 biolink:NamedThing Recurrent Staphylococcus aureus infections Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection. hp0009lx5z Staphylococcus aureus infections, recurrent UMLS:C2673462 human_phenotype owl:Class HP:0007499 biolink:NamedThing Recurrent staphylococcal infections Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections. hp0009lx5z Recurrent staphylococcal infections UMLS:C4024862 human_phenotype owl:Class HP:0002094 biolink:NamedThing Dyspnea Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. hp0009lx5z Panting|Abnormal breathing|Shortness of breath|Difficult to breathe|Dyspnoea|Difficulty breathing|Breathing difficulty|Trouble breathing UMLS:C0013404|SNOMEDCT_US:267036007|SNOMEDCT_US:230145002|MSH:D004417 owl:Class HP:0002793 biolink:NamedThing Abnormal pattern of respiration An anomaly of the rhythm or depth of breathing. hp0009lx5z Abnormal respiratory patterns|Unusual breathing patterns|Abnormal pattern of respiration UMLS:C1837388 owl:Class HP:0031790 biolink:NamedThing Mixed astigmatism A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). hp0009lx5z 2018-01-28 13:37:32+00:00 peter owl:Class HP:0500069 biolink:NamedThing Paralytic ectropion A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. hp0009lx5z 2018-02-26 17:37:32+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0000656 biolink:NamedThing Ectropion An outward turning (eversion) or rotation of the eyelid margin. hp0009lx5z Everted eyelid|Eyelid folded out|Eyelid turned out Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. SNOMEDCT_US:62909004|SNOMEDCT_US:127559009|MSH:D004483|UMLS:C0013592 human_phenotype owl:Class HP:0030248 biolink:NamedThing Mesenteric venous thrombosis A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine). hp0009lx5z Blood clot in mesentertic vein Mesenteric venous thrombosis may be associated with abdominal pain and bloating, diarrhea, fever, gastrointestinal bleeding, and vomiting. MSH:D065666|SNOMEDCT_US:95446005|UMLS:C0267412 owl:Class HP:0030247 biolink:NamedThing Splanchnic vein thrombosis The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity). hp0009lx5z Blood clot in splanchnic vein UMLS:C4022560 owl:Class HP:0020166 biolink:NamedThing Central retinal vein occlusion Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis. hp0009lx5z robinp 2019-07-06 21:10:20+00:00 owl:Class HP:0012636 biolink:NamedThing Retinal vein occlusion Blockage of the retinal vein. hp0009lx5z Retinal vein occlusion can lead to edema and ischemia of the retina. peter 2014-01-17T11:43:32Z SNOMEDCT_US:46085004|MSH:D012170|UMLS:C0035328 human_phenotype owl:Class HP:0200003 biolink:NamedThing Splayed epiphyses Flaring (widening) of the epiphysis. hp0009lx5z Splayed end part of bone sebastiankohler 2010-05-31T02:19:45Z HP:0004978 UMLS:C4021906 human_phenotype owl:Class HP:0001345 biolink:NamedThing Psychotic mentation hp0009lx5z UMLS:C4025789 human_phenotype owl:Class HP:0500274 biolink:NamedThing Decreased proportion of immature gamma-delta T cells Decreased proportion of immature gamma-delta T cells relative to the total number of T cells. hp0009lx5z Decreased proportion of immature gamma-delta T-lymphocytes|Decreased proportion of immature gamma-delta T lymphocytes|Reduced proportion of immature gamma-delta T cells|Decreased proportion of immature gamma-delta T-cells 2020-05-19 15:39:41+00:00 owl:Class HP:0500271 biolink:NamedThing Decreased proportion of gamma-delta T cells Decreased proportion of gamma-delta T cells relative to the total number of T cells. hp0009lx5z Decreased proportion of gamma-delta T-lymphocytes|Decreased proportion of gammadelta T cells|Reduced proportion of gamma-delta T cells|Decreased proportion of gamma-delta T-cells|Decreased proportion of gamma-delta T lymphocytes 2020-05-19 15:10:45+00:00 owl:Class HP:0004257 biolink:NamedThing Delayed ossification of the trapezoid bone Formation of bone tissue of trapezoid is less than expected for age. hp0009lx5z Delayed maturation of the trapezoid bone UMLS:C4021668 human_phenotype owl:Class HP:0001216 biolink:NamedThing Delayed ossification of carpal bones Ossification of carpal bones occurs later than age-adjusted norms. hp0009lx5z Delayed maturation of wrist bone|Delayed maturation of carpal bones|Delayed carpal bone age|Carpal delayed ossification|Delayed carpal ossification UMLS:C1841684|UMLS:C4280599 human_phenotype owl:Class HP:0020075 biolink:NamedThing Leucine crystalluria The presence of leuucine crystals in the urine. hp0009lx5z 2019-02-25 13:13:14+00:00 Leucine crystals are oily-looking spheres with concentric striations, which form pseudo-Maltese crosses under polarized light. Leucine, like tyrosine, which appears as thin needles often aggregated inbundles or rosettes, is typical of patients with hepatic failure. robinp owl:Class HP:0020074 biolink:NamedThing Crystalluria The presence of crystals in the urine. hp0009lx5z 2019-02-25 13:07:52+00:00 Crystalluria is a marker of urine supersaturation with substances deriving from metabolic disorders, inherited diseases or drugs. The investigation of crystalluria must be done according to a protocol which includes the delivery to the laboratory of a proper urine sample, the use of a microscope equipped with polarized light, the accurate knowledge of urine pH, and a comprehensive examination of the crystals, which is based on their identification, quantification and size measurement. For unusual crystals, infrared spectroscopy may also be needed. The main urinary crystalline categories include: calcium oxalates, calcium phosphates, uric acids and urates, struvite, aminoacids (cystine), purines (2,8-dihydroxyadenine and xanthine) and drugs (e.g. sulfamethoxazole, amoxycillin, ceftriaxone, atazanavir). robinp owl:Class HP:0031299 biolink:NamedThing Elevated left atrial pressure An abnormal increase in magnitude of the pressure in the left atrium. hp0009lx5z 2017-08-13 21:54:47+00:00 peter owl:Class HP:0025443 biolink:NamedThing Abnormal cardiac atrial physiology An abnormality of the function of the cardiac atria. hp0009lx5z 2017-04-29 17:10:13+00:00 HPO:probinson owl:Class HP:0020035 biolink:NamedThing Lower limb dysmetria A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg. hp0009lx5z 2017-10-13 12:24:09+00:00 robinp owl:Class HP:0002406 biolink:NamedThing Limb dysmetria A type of dysmetria involving the limbs. hp0009lx5z Uncoordinated limb movement UMLS:C1854489|UMLS:C4280577 human_phenotype owl:Class HP:0200041 biolink:NamedThing Skin erosion A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. hp0009lx5z sebastiankohler 2010-06-18T02:15:51Z MEDDRA:10040840|SNOMEDCT_US:93448009|UMLS:C3887524 human_phenotype owl:Class HP:0030276 biolink:NamedThing Small scrotum Apparently small scrotum for age. hp0009lx5z Underdeveloped scrotum|Small scrotum A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum. UMLS:C0431659|SNOMEDCT_US:204912007 owl:Class HP:0000045 biolink:NamedThing Abnormality of the scrotum hp0009lx5z UMLS:C4025895 human_phenotype owl:Class HP:0010542 biolink:NamedThing Vestibular nystagmus Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. hp0009lx5z peter 2009-09-23T10:38:28Z UMLS:C0155379|SNOMEDCT_US:46888001 human_phenotype owl:Class HP:0000639 biolink:NamedThing Nystagmus Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. hp0009lx5z Involuntary, rapid, rhythmic eye movements SNOMEDCT_US:563001|MSH:D009759|UMLS:C0028738 human_phenotype owl:Class HP:0009657 biolink:NamedThing Triangular shaped thumb phalanx Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle. hp0009lx5z Triangular shaped phalanges of the thumb|Triangular thumb phalanges|Triangular shaped thumb bone A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). doelkens 2009-01-29T05:29:26Z HP:0004072 UMLS:C4021412 human_phenotype owl:Class HP:0001528 biolink:NamedThing Hemihypertrophy Overgrowth of only one side of the body. hp0009lx5z Asymmetric overgrowth|Asymmetric limb hypertrophy HP:0006416 SNOMEDCT_US:56007004|UMLS:C0332890|SNOMEDCT_US:205838004 human_phenotype owl:Class HP:0010357 biolink:NamedThing Abnormality of the middle phalanx of the 2nd toe hp0009lx5z Abnormality of the middle bone of the 2nd toe doelkens 2009-07-16T11:45:34Z UMLS:C4023884 human_phenotype owl:Class HP:0002732 biolink:NamedThing Lymph node hypoplasia Underdevelopment of the lymph nodes. hp0009lx5z Small lymph nodes UMLS:C1865377|UMLS:C4025683 human_phenotype owl:Class HP:0012482 biolink:NamedThing Frontal venous angioma A venous angioma of the frontal lobe of the brain. hp0009lx5z peter 2013-11-28T08:12:07Z UMLS:C4022887 human_phenotype owl:Class HP:0012481 biolink:NamedThing Cerebral venous angioma A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. hp0009lx5z Developmental Venous Anomaly DVA is characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. peter 2013-11-28T08:03:08Z MSH:D020787|UMLS:C1956261 human_phenotype owl:Class HP:0040092 biolink:NamedThing Asymmetry of the shape of the ears hp0009lx5z Asymmetry of the shape of the ears HPO:skoehler UMLS:C4022445 owl:Class HP:0010722 biolink:NamedThing Asymmetry of the ears An asymmetriy, i.e., difference in size, shape or position between the left and right ear. hp0009lx5z Asymmetric ears sdoelken 2010-04-20T10:11:45Z UMLS:C1168239 human_phenotype owl:Class HP:0005178 biolink:NamedThing Complete heart block with narrow QRS complexes A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex. hp0009lx5z UMLS:C1841661 human_phenotype owl:Class HP:0001709 biolink:NamedThing Third degree atrioventricular block Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. hp0009lx5z Third-degree heart block|Complete heart block SNOMEDCT_US:27885002|UMLS:C0151517 human_phenotype owl:Class HP:0031994 biolink:NamedThing Bronchial breath sound Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy. hp0009lx5z 2018-07-15 19:45:30+00:00 peter owl:Class HP:0030829 biolink:NamedThing Abnormal breath sound An anomalous (adventitious) sound produced by the breathing process. hp0009lx5z UMLS:C0231856|SNOMEDCT_US:301273002 owl:Class HP:0001648 biolink:NamedThing Cor pulmonale Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. hp0009lx5z Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy. SNOMEDCT_US:274096000|UMLS:C0034072|SNOMEDCT_US:83291003|MSH:D011660 human_phenotype owl:Class HP:0001707 biolink:NamedThing Abnormal right ventricle morphology An abnormality of the right ventricle of the heart. hp0009lx5z Abnormality of the right ventricle|Right ventricular abnormality The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery. UMLS:C0344887|Fyler:1820|SNOMEDCT_US:253516002 human_phenotype owl:Class HP:0011814 biolink:NamedThing Increased urinary hypoxanthine An increased level of hypoxanthine in the urine. hp0009lx5z peter 2012-04-28T03:38:52Z UMLS:C3810487 owl:Class HP:0100551 biolink:NamedThing Neoplasm of the trachea A neoplasm of the trachea. hp0009lx5z Tracheal neoplasm doelkens 2010-12-21T03:44:37Z HP:0012291 SNOMEDCT_US:126703006|MSH:D014134|UMLS:C0040582|NCIT:C3262 human_phenotype owl:Class HP:0002778 biolink:NamedThing Abnormal trachea morphology A structural anomaly of the trachea. hp0009lx5z Tracheal disease|Abnormality of the trachea MSH:D014133|UMLS:C0040580|SNOMEDCT_US:47125007|UMLS:C4025678 human_phenotype owl:Class HP:0010209 biolink:NamedThing Symphalangism affecting the proximal phalanges of the toes hp0009lx5z Fused innermost bones of toes doelkens 2009-05-29T01:54:18Z UMLS:C4023970 human_phenotype owl:Class HP:0012376 biolink:NamedThing Microphakia Abnormal smallness of the lens. hp0009lx5z Small lens peter 2013-10-13T06:11:11Z UMLS:C0266541|SNOMEDCT_US:35272001 human_phenotype owl:Class HP:0001136 biolink:NamedThing Retinal arteriolar tortuosity The presence of an increased number of twists and turns of the retinal arterioles. hp0009lx5z Tortuous retinal arterioles UMLS:C1843517 human_phenotype owl:Class HP:0006615 biolink:NamedThing Absent in utero rib ossification Lack of formation and mineralization of the ribs in utero. hp0009lx5z Absent rib calcification in utero UMLS:C1842695 human_phenotype owl:Class HP:0001363 biolink:NamedThing Craniosynostosis Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. hp0009lx5z Cranial suture synostosis|Premature fontanel closure|Premature closure of cranial sutures|Premature suture closure|Early fusion of cranial sutures|Craniostenosis|Deformity of the skull|Craniosyostosis Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth. HP:0004494|HP:0005457|HP:0005448|HP:0005467|HP:0008492|HP:0001365 UMLS:C0235942|Fyler:4336|UMLS:C0010278|MSH:D003398|SNOMEDCT_US:57219006 human_phenotype owl:Class HP:0000600 biolink:NamedThing Abnormality of the pharynx An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. hp0009lx5z The pharynx is tubular structure extending from base of skull superiorly to esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system. UMLS:C4025838 owl:Class HP:0032770 biolink:NamedThing Focal aware autonomic seizure with erection A focal autonomic seizure with erection characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0009699 biolink:NamedThing Osteolytic defects of the hand bones hp0009lx5z Lytic defects of hand bones doelkens 2009-01-30T04:08:52Z HP:0006082|HP:0004282 UMLS:C4021400 human_phenotype owl:Class HP:0045039 biolink:NamedThing Osteolysis involving bones of the upper limbs hp0009lx5z HPO:skoehler UMLS:C4073167 owl:Class HP:0002277 biolink:NamedThing Horner syndrome An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection. hp0009lx5z Horner's syndrome|Oculosympathetic palsy Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva. HP:0000596 MSH:D006732|SNOMEDCT_US:192915005|SNOMEDCT_US:271730003|SNOMEDCT_US:12731000|UMLS:C0019937 human_phenotype owl:Class HP:0012332 biolink:NamedThing Abnormal autonomic nervous system physiology A functional abnormality of the autonomic nervous system. hp0009lx5z Autonomic dysregulation|Dysautonomia|Autonomic dysfunction peter 2013-09-13T07:53:55Z HP:0002271|HP:0002387|HP:0002459|HP:0007310 UMLS:C4022952 human_phenotype owl:Class HP:4000057 biolink:NamedThing Decreased FasL-mediated apoptosis A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis. hp0009lx5z 2021-05-02 21:55:09+00:00 robinp owl:Class HP:4000056 biolink:NamedThing Abnormal apoptosis Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. hp0009lx5z 2021-05-02 21:53:27+00:00 robinp owl:Class HP:0033950 biolink:NamedThing Cortical radial artery intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. hp0009lx5z Intraluminal thrombi within interlobular arterial lumen 2021-06-24 12:18:01+00:00 peter owl:Class HP:0033884 biolink:NamedThing Abnormal cortical radial artery lumen morphology Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. hp0009lx5z Abnormal interlobular arterial lumen morphology 2021-06-23 20:01:14+00:00 peter owl:Class HP:0031271 biolink:NamedThing Absent ankle pulse The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination. hp0009lx5z 2017-08-12 20:39:39+00:00 While examining the pulse, the observer should note its intensity, rate, rhythm, and if any blood vessel tenderness, tortuosity, or nodularity exists. peter owl:Class HP:0032554 biolink:NamedThing Absent pulse The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination. hp0009lx5z 2019-06-14 10:48:40+00:00 peter owl:Class HP:0004409 biolink:NamedThing Hyposmia A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). hp0009lx5z Sense of smell impaired|Decreased smell sensation peter 2008-03-18T09:21:00Z SNOMEDCT_US:83156004|UMLS:C2364082 owl:Class HP:0030764 biolink:NamedThing Ochronosis Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. hp0009lx5z MSH:D009794|SNOMEDCT_US:410042009|UMLS:C0028817 owl:Class HP:0100187 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 4th toe hp0009lx5z doelkens 2010-06-24T04:54:13Z UMLS:C4022234 human_phenotype owl:Class HP:0100073 biolink:NamedThing Pseudoepiphyses of the 4th toe hp0009lx5z doelkens 2010-06-24T09:59:30Z UMLS:C4022348 human_phenotype owl:Class HP:0003977 biolink:NamedThing Deformed radius hp0009lx5z HP:0005046 UMLS:C4025467 human_phenotype owl:Class HP:0003959 biolink:NamedThing Deformed forearm bones hp0009lx5z Deformed forearm bones UMLS:C4025479 human_phenotype owl:Class HP:0030446 biolink:NamedThing Atypical pulmonary carcinoid tumor hp0009lx5z Atypical pulmonary carcinoid tumour UMLS:C4072942 owl:Class HP:0030445 biolink:NamedThing Pulmonary carcinoid tumor A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. hp0009lx5z Pulmonary carcinoid tumour|Lung carcinoid tumour|Lung carcinoid tumor SNOMEDCT_US:254627002|UMLS:C0280089 owl:Class HP:0031949 biolink:NamedThing Recurrent bacterial upper respiratory tract infections An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). hp0009lx5z Recurrent bacterial URI 2018-07-06 12:24:36+00:00 peter owl:Class HP:0002505 biolink:NamedThing Progressive inability to walk hp0009lx5z Progressive inability to walk UMLS:C1836843 human_phenotype owl:Class HP:0011725 biolink:NamedThing Chaotic multifocal atrial tachycardia hp0009lx5z peter 2012-04-11T09:01:14Z UMLS:C4023218 human_phenotype owl:Class HP:0001692 biolink:NamedThing Atrial arrhythmia A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. hp0009lx5z Primary atrial arrhythmia UMLS:C0085611|SNOMEDCT_US:17366009|UMLS:C4025755 human_phenotype owl:Class HP:0011696 biolink:NamedThing Supraventricular tachycardia with a manifest accessory pathway on the left free wall hp0009lx5z peter 2012-04-10T10:57:34Z UMLS:C4023226 human_phenotype owl:Class HP:0011694 biolink:NamedThing Supraventricular tachycardia with a manifest accessory pathway hp0009lx5z peter 2012-04-10T10:38:53Z UMLS:C4023227 human_phenotype owl:Class HP:0003860 biolink:NamedThing Diaphyseal sclerosis of the upper limbs An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in central part of long bone of upper limbs UMLS:C4025547 human_phenotype owl:Class HP:0500105 biolink:NamedThing Decreased systolic blood pressure Abnormal decrease in systolic blood pressure. hp0009lx5z Decreased systolic BP|Reduced systolic blood pressure 2018-06-22 14:02:09+00:00 owl:Class HP:0002615 biolink:NamedThing Hypotension Low Blood Pressure, vascular hypotension. hp0009lx5z Low blood pressure|Arterial hypotension HP:0005127|HP:0006701 UMLS:C0020649|SNOMEDCT_US:45007003|MSH:D007022 human_phenotype owl:Class HP:0100520 biolink:NamedThing Oliguria Low output of urine, clinically classified as an output below 300-500ml/day. hp0009lx5z The decreased output of urine may be a sign of dehydration, renal failure, hypovolemic shock, multiple organ dysfunction syndrome, or urinary obstruction/urinary retention. doelkens 2010-12-20T10:42:40Z SNOMEDCT_US:83128009|UMLS:C0028961|SNOMEDCT_US:718403007|MSH:D009846 human_phenotype owl:Class HP:0011037 biolink:NamedThing Decreased urine output A decreased rate of urine production. hp0009lx5z A reduction in the overall amount of urine output. peter 2011-03-06T12:33:12Z UMLS:C3887784 human_phenotype owl:Class HP:0025534 biolink:NamedThing Ocular melanocytosis A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared. hp0009lx5z Ocular melanosis|Melanosis oculi 2017-05-18 01:13:19+00:00 In ocular melanocytosis, Intraocular pigmentation is also increased, which contributes to a higher incidence of glaucoma and increases the risk of malignant melanoma. HPO:probinson owl:Class HP:0030633 biolink:NamedThing Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence hp0009lx5z UMLS:C4073103 owl:Class HP:0030629 biolink:NamedThing Perifoveal ring of hyperautofluorescence hp0009lx5z UMLS:C4073099 owl:Class HP:4000035 biolink:NamedThing Primary obstructive megaureter Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction. hp0009lx5z 2021-05-02 19:57:12+00:00 robinp owl:Class HP:0000072 biolink:NamedThing Hydroureter The distention of the ureter with urine. hp0009lx5z Ureteral dilatation|Swelling of ureter|Uroureter|Dilated ureter|Megaureter|Wide ureter HP:0006003 UMLS:C4020897|SNOMEDCT_US:69758005|UMLS:C0521620|SNOMEDCT_US:95576001 owl:Class HP:0001948 biolink:NamedThing Alkalosis Depletion of acid or accumulation base in the body fluids. hp0009lx5z When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. MSH:D000471|UMLS:C0002063|SNOMEDCT_US:21420006 human_phenotype owl:Class HP:0009313 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 4th finger Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger. hp0009lx5z Uneven increase in bone density in the innermost bone of the ring finger doelkens 2009-01-08T05:11:48Z UMLS:C4024449 human_phenotype owl:Class HP:0009406 biolink:NamedThing Patchy sclerosis of 4th finger phalanx Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger. hp0009lx5z Uneven increase in bone density in ring finger bone|Patchy sclerosis of the phalanges of the 4th finger doelkens 2009-01-13T02:37:29Z UMLS:C4021481 human_phenotype owl:Class HP:0025205 biolink:NamedThing Triggered by breast feeding Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant. hp0009lx5z Triggered by breastfeeding|Breastfeeding triggered symptoms 2016-12-10 13:41:09+00:00 HPO:probinson owl:Class HP:0003844 biolink:NamedThing Small epiphyses of the upper limbs hp0009lx5z Small end part of upper limb bones UMLS:C4025556 human_phenotype owl:Class HP:0007517 biolink:NamedThing Palmoplantar cutis laxa Loose, wrinkled skin of hands and feet. hp0009lx5z Increased wrinkles of palms and soles|Wrinkled palms and soles|Excessive wrinkled skin of palms and soles|Furrowed palms and soles|Wrinkled skin of hands and feet HP:0001016 UMLS:C1856714 human_phenotype owl:Class HP:0000973 biolink:NamedThing Cutis laxa Wrinkled, redundant, inelastic and sagging skin. hp0009lx5z Inelastic skin|Chalazoderma|Elastolysis|Loose skin|Skin laxity|Dermatochalasia|Lax skin|Loose and inelastic skin|Generalized elastolysis|Generalised elastolysis|Dermatomegaly|Cutaneous laxity|Hanging skin|Hypoelastic skin MSH:D003483|MSH:C531660|UMLS:C4280606|SNOMEDCT_US:58588007|UMLS:C0010495|UMLS:C2930812 human_phenotype owl:Class HP:0032342 biolink:NamedThing Reduced forced expiratory volume in one second An abnormal reduction in the amount of air a person can forcefully expel in one second. hp0009lx5z 2019-02-21 12:54:07+00:00 peter owl:Class HP:0100638 biolink:NamedThing Neoplasm of the pharynx A neoplasm originating in the pharynx. hp0009lx5z Tumour of the pharynx|Pharyngeal neoplasm|Neoplasia of the pharynx|Tumor of the pharynx Tumors of pharynx may present with nonspecific findings such as otalgia or unilateral otitis media. doelkens 2010-12-29T05:31:55Z HP:0030073 SNOMEDCT_US:126685009|UMLS:C0031347|NCIT:C3262|MSH:D010610 human_phenotype owl:Class HP:0011746 biolink:NamedThing Secretory adrenocortical adenoma An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones. hp0009lx5z Secretory adrenal adenoma peter 2012-04-21T11:58:38Z UMLS:C4021125 human_phenotype owl:Class HP:0008256 biolink:NamedThing Adrenocortical adenoma Adrenocortical adenomas are benign tumors of the adrenal cortex. hp0009lx5z Adrenocortical adenomas HP:0008196 UMLS:C0206667|SNOMEDCT_US:255036008|SNOMEDCT_US:18365006|SNOMEDCT_US:302826002|MSH:D018246 human_phenotype owl:Class HP:0004406 biolink:NamedThing Spontaneous, recurrent epistaxis hp0009lx5z Recurrent epistaxis|Recurring nosebleed|Recurrent epistaxes|Spontaneous, recurrent nosebleed peter 2008-03-18T09:20:00Z HP:0003684 UMLS:C3809715 human_phenotype owl:Class HP:0000421 biolink:NamedThing Epistaxis Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. hp0009lx5z Nose bleeding|Nasal hemorrhage|Frequent nosebleeds|Nasal haemorrhage|Nose bleed|Nosebleed|Bloody nose SNOMEDCT_US:249366005|ICD9:784.7|ICD10:R04.0|COHD:318556|MSH:D004844|EFO:0003895|UMLS:C0014591|SNOMEDCT_US:12441001|NCIT:C26766 human_phenotype owl:Class HP:0003118 biolink:NamedThing Increased circulating cortisol level Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. hp0009lx5z Cushing syndrome|Hypercortisolism|Increased cortisol production|Increased circulating cortisol level HP:0000850|HP:0001578|HP:0004316 UMLS:C4025651|UMLS:C0001622|UMLS:C0342443|SNOMEDCT_US:237735008|SNOMEDCT_US:275437005|SNOMEDCT_US:47270006|MSH:D000308 human_phenotype owl:Class HP:0002717 biolink:NamedThing Adrenal overactivity hp0009lx5z Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. peter 2008-02-25T10:41:00Z UMLS:C4025685 human_phenotype owl:Class HP:0004341 biolink:NamedThing Abnormality of vitamin B12 metabolism hp0009lx5z Abnormality of the vitamin B12 metabolism peter 2008-03-08T08:09:00Z UMLS:C4021658 human_phenotype owl:Class HP:0032958 biolink:NamedThing Urinary oval fat bodies The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets. hp0009lx5z peter owl:Class HP:0033831 biolink:NamedThing Cavitating pulmonary mass A type of pulmonary mass that forms one or more cavities. hp0009lx5z 2021-05-09 12:33:00+00:00 peter owl:Class HP:0033821 biolink:NamedThing Pulmonary mass A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). hp0009lx5z 2021-05-09 12:22:54+00:00 peter owl:Class HP:0005866 biolink:NamedThing Opposable triphalangeal thumb A form of triphalangeal thumb that can be placed opposite the fingers of the same hand. hp0009lx5z UMLS:C4025122 human_phenotype owl:Class HP:0001199 biolink:NamedThing Triphalangeal thumb A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. hp0009lx5z Finger-like thumb|Accessory phalanx of the thumb|Triphalangeal thumbs|Digitalized thumb|Triphalangy of thumb The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb. HP:0006194|HP:0009610|HP:0009619|HP:0005846 SNOMEDCT_US:205308004|UMLS:C0241397|MSH:C573898 human_phenotype owl:Class HP:0003724 biolink:NamedThing Shoulder girdle muscle atrophy Amyotrophy affecting the muscles of the shoulder girdle. hp0009lx5z Shoulder-girdle muscle atrophy|Shoulder girdle muscle wasting|Shoulder girdle atrophy UMLS:C1847766 human_phenotype owl:Class HP:0011208 biolink:NamedThing EEG with generalized slow activity grade 3 Generalized slowing of EEG activity at frequencies between 0.5-3 Hz. hp0009lx5z EEG with generalised slow activity grade 3 peter 2011-11-19T12:44:11Z UMLS:C4023466 human_phenotype owl:Class HP:0000077 biolink:NamedThing Abnormality of the kidney An abnormality of the kidney. hp0009lx5z Renal anomaly|Renal anomalies|Abnormality of the kidney|Abnormal kidney The kidney is a paired organ whose primary function is the production of urine. UMLS:C0022658|SNOMEDCT_US:90708001|MSH:D007674|SNOMEDCT_US:44513007|UMLS:C0266292 human_phenotype owl:Class HP:5000027 biolink:NamedThing Anti-P/Q-type VGCC antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs). hp0009lx5z Anti-P/Q-type voltage-gated calcium-channel antibody ORCID:0000-0002-3387-1836 owl:Class HP:0040085 biolink:NamedThing Abnormal circulating aldosterone hp0009lx5z Abnormal plasma aldosterone|Abnormal circulating aldosterone HPO:skoehler UMLS:C0857898 owl:Class HP:0000847 biolink:NamedThing Abnormality of renin-angiotensin system An abnormality of the renin-angiotensin system. hp0009lx5z Abnormality of the renin-aldosterone axis The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. HP:0003350 UMLS:C4021793 human_phenotype owl:Class HP:0500044 biolink:NamedThing Upper eyelid retraction An elevation of the eyelid above the normal level in the primary position. hp0009lx5z 2018-02-05 16:39:46+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0500043 biolink:NamedThing Eyelid retraction With the eyes in primary position, the sclera is visible above the superior corneal limbus. hp0009lx5z 2018-02-05 16:22:49+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0011848 biolink:NamedThing Abdominal colic A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity. hp0009lx5z Colicky abdominal pain can be caused by kidney stones and gallstones, among other etiologies. This type of pain is thought to be caused by spasm, obstruction, or distension of any of the hollow viscera of the gastrointestinal system. hecht 2012-05-12T07:17:45Z UMLS:C0232488|SNOMEDCT_US:9991008|MSH:D003085 human_phenotype owl:Class HP:0002925 biolink:NamedThing Elevated circulating thyroid-stimulating hormone concentration Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. hp0009lx5z Thyroid-stimulating hormone excess|Increased thyrotropin level|TSH excess|Increased serum thyroid-stimulating hormone|High TSH|Increased thyroid-stimulating hormone|Elevated thyroid stimulating hormone levels|Elevated thyroid stimulating hormone|Increased thyroid-stimulating hormone level SNOMEDCT_US:309080005|UMLS:C0586553 owl:Class HP:0002102 biolink:NamedThing Pleuritis Inflammation of the pleura. hp0009lx5z Inflammation of tissues lining lungs and chest|Pleurisy SNOMEDCT_US:196075003|UMLS:C0032231|MSH:D010998 human_phenotype owl:Class HP:0008442 biolink:NamedThing Vertebral hyperostosis Excessive growth of the bones of the vertebral bodies. hp0009lx5z UMLS:C1834057 human_phenotype owl:Class HP:0100774 biolink:NamedThing Hyperostosis Excessive growth or abnormal thickening of bone tissue. hp0009lx5z Bone overgrowth|Bone Hypertrophy Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). doelkens 2011-06-07T05:17:19Z SNOMEDCT_US:203514008|UMLS:C0020492|MSH:D015576|SNOMEDCT_US:13814009 human_phenotype owl:Class HP:0010157 biolink:NamedThing Small epiphysis of the 1st metatarsal hp0009lx5z Small end part of the 1st long bone of foot doelkens 2009-05-29T01:24:17Z UMLS:C4024002 human_phenotype owl:Class HP:0003903 biolink:NamedThing Broad humeral epiphyses Increased width of the humeral epiphysis. hp0009lx5z Wide end part of long bone in upper arm|Wide humeral epiphyses UMLS:C4021710 human_phenotype owl:Class HP:0410205 biolink:NamedThing Abnormal circulating nicotinurate concentration Any deviation from the normal concentration of nicotinurate in the blood. hp0009lx5z Abnormal circulating nicotinurate level|Abnormal circulating N-nicotinoylglycine level 2018-09-11 23:40:08+00:00 Nicotinuric acid is an acyl glycine, which are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Nicotinuric acid is the major detoxification product of nicotinic acid. It may serve as a simple quantitative index of hepatic biotransformation of nicotinic acid. owl:Class HP:0004364 biolink:NamedThing Abnormal circulating nitrogen compound concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. hp0009lx5z Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. peter 2008-03-17T04:51:00Z UMLS:C4025336 human_phenotype owl:Class HP:0032315 biolink:NamedThing Areolar fullness The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape. hp0009lx5z 2019-02-14 11:27:08+00:00 peter owl:Class HP:0032314 biolink:NamedThing Abnormal areolar morphology An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple. hp0009lx5z 2019-02-14 11:26:26+00:00 peter owl:Class HP:0040185 biolink:NamedThing Macrothrombocytopenia hp0009lx5z Macrothrombozytopenia UMLS:C2751260 owl:Class HP:0100258 biolink:NamedThing Preaxial polydactyly A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. hp0009lx5z Polydactyly, preaxial doelkens 2010-07-20T11:00:32Z SNOMEDCT_US:205135003|UMLS:C0345354 human_phenotype owl:Class HP:0011294 biolink:NamedThing EEG with frontal sharp waves EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec. hp0009lx5z peter 2012-02-11T12:33:10Z UMLS:C2206518 human_phenotype owl:Class HP:0011196 biolink:NamedThing EEG with focal sharp waves EEG with focal sharp transient waves of a duration between 80 and 200 msec. hp0009lx5z hecht 2011-11-19T11:11:50Z UMLS:C4023478 human_phenotype owl:Class HP:0007413 biolink:NamedThing Nevus flammeus of the forehead Naevus flammeus localised in the skin of the forehead. hp0009lx5z Port-wine stain on forehead UMLS:C1848850 human_phenotype owl:Class HP:0001052 biolink:NamedThing Nevus flammeus A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. hp0009lx5z Nevus simplex|port-wine stain Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions. SNOMEDCT_US:254211001|UMLS:C0235752|SNOMEDCT_US:416377005|MEDDRA:10067193|MSH:D019339 human_phenotype owl:Class HP:0006918 biolink:NamedThing Diffuse cerebral sclerosis hp0009lx5z MSH:D002549|SNOMEDCT_US:49692006|UMLS:C0007795 human_phenotype owl:Class HP:0002060 biolink:NamedThing Abnormal cerebral morphology Any structural abnormality of the telencephalon, which is also known as the cerebrum. hp0009lx5z Abnormality of the telencephalon|Abnormality of the cerebrum|Cerebral lesion UMLS:C4021762 owl:Class HP:0005109 biolink:NamedThing Abnormality of the Achilles tendon An abnormality of the Achilles tendon. hp0009lx5z Abnormality of the Achilles tendon|Abnormality of the calcaneal tendon peter 2008-03-25T06:21:00Z UMLS:C4021642 human_phenotype owl:Class HP:0100261 biolink:NamedThing Abnormal tendon morphology An abnormality of the structure or form of the tendons, also often called sinews. hp0009lx5z Abnormal shape of tendon|Abnormality of the sinew A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force. doelkens 2010-07-20T01:20:19Z UMLS:C4021026 human_phenotype owl:Class HP:0002546 biolink:NamedThing Incomprehensible speech hp0009lx5z Incomprehensible speech UMLS:C1838027 owl:Class HP:0030259 biolink:NamedThing Hypopigmented genitalia Localized or generalized decreased genital pigmentation. hp0009lx5z Decreased genital pigmentation This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hypopigmentation can affect other parts of the body or be restricted to the genitalia. Genital hypopigmentation can be generalized or localized. Localized hypopigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hypopigmentation may be more difficult to determine and is therefore a subjective manifestation. UMLS:C4022553 owl:Class HP:0012293 biolink:NamedThing Abnormal genital pigmentation An abnormal pigmentation pattern of the external genitalia. hp0009lx5z peter 2013-04-11T06:02:08Z UMLS:C4022965 human_phenotype owl:Class HP:0410240 biolink:NamedThing Abnormal circulating IgA level An abnormal deviation from normal levels of IgA immunoglobulin in blood. hp0009lx5z Abnormal IgA level in blood 2018-10-12 20:32:11+00:00 owl:Class HP:0009262 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 4th finger An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the innermost bone of the ring finger|Bracket proximal epiphysis of the ring finger doelkens 2009-01-07T12:12:59Z HP:0004200 UMLS:C4021506 human_phenotype owl:Class HP:0002243 biolink:NamedThing Protein-losing enteropathy Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. hp0009lx5z Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins. MSH:D011504|UMLS:C0033680|SNOMEDCT_US:66972006|SNOMEDCT_US:22542007 human_phenotype owl:Class HP:0006390 biolink:NamedThing Anterior tibial bowing An abnormal anterior bending or curvature of the tibia. hp0009lx5z Anterior bowing of tibia UMLS:C1861937 human_phenotype owl:Class HP:0032247 biolink:NamedThing Persistent CMV viremia Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation. hp0009lx5z 2019-01-27 13:32:28+00:00 Persistent CMV infection has important clinical relevance in the global population. Although immune-mediated control of CMV in healthy individuals prevents disease and overt clinical symptoms, immune dysregulation caused by immunosuppressive treatments in transplant and cancer patients, congenital immunodeficiencies, HIV/AIDS, and/or aging can result in CMV viremia, life threatening disease, and even death. peter owl:Class HP:0031692 biolink:NamedThing Severe cytomegalovirus infection An unusually severe infection by cytomegalovirus. hp0009lx5z 2017-12-17 22:31:35+00:00 A typical mononucleosis syndrome consists of an acute febrile illness with an increase of 50 percent or more in the number of lymphocytes or monocytes, with at least 10 percent of the lymphocytes being atypical. Immunocompromised patients may experience more severe complications such as CMV retinitis. peter owl:Class HP:0100633 biolink:NamedThing Esophagitis Inflammation of the esophagus. hp0009lx5z Inflammation of the oesophagus|Oesophagitis|Inflammation of the esophagus doelkens 2010-12-29T05:09:23Z MSH:D004941|SNOMEDCT_US:16761005|MEDDRA:10030216|UMLS:C0014868 human_phenotype owl:Class HP:0004386 biolink:NamedThing Gastrointestinal inflammation Inflammation of the alimentary part of the gastrointestinal system. hp0009lx5z Gastrointestinal inflammation|GI inflammation peter 2008-03-18T09:01:00Z UMLS:C1535950 human_phenotype owl:Class HP:0040207 biolink:NamedThing Abnormal CSF biopterin level Abnormal concentration of biopterin in the cerebrospinal fluid (CSF). hp0009lx5z Abnormal cerebrospinal fluid biopterin level PhenoTips:CHum UMLS:C4073155 owl:Class HP:0010320 biolink:NamedThing Abnormality of the 3rd toe An anomaly of the third toe. hp0009lx5z Abnormality of the 3rd toe doelkens 2009-07-16T11:37:12Z UMLS:C4023907 human_phenotype owl:Class HP:0100384 biolink:NamedThing Absent proximal phalanx of the 3rd toe Absence of proximal phalanx of third toe, owing to a congenital defect of development. hp0009lx5z Absent innermost bone of the 3rd toe|Aplasia of the proximal phalanx of the 3rd toe UMLS:C4021009 human_phenotype owl:Class HP:0100375 biolink:NamedThing Aplasia/hypoplasia of the proximal phalanx of the 3rd toe Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe. hp0009lx5z Absent/underdeveloped innermost bone of 3rd toe|Absent/small innermost bone of 3rd toe UMLS:C4022116 human_phenotype owl:Class HP:0005939 biolink:NamedThing Multiple bilateral pneumothoraces hp0009lx5z UMLS:C4025099 human_phenotype owl:Class HP:0041167 biolink:NamedThing Fractured cervical vertebra A partial or complete breakage of the cervical vertebra. hp0009lx5z bone cervical vertebra owl:Class HP:0008363 biolink:NamedThing Aplasia/Hypoplasia of the tarsal bones Absence or underdevelopment of the tarsal bones. hp0009lx5z Absent/underdeveloped ankle bone|Aplastic/hypoplastic tarsals|Absent/small ankle bone peter 2008-04-04T11:35:00Z HP:0008109 UMLS:C1848671 human_phenotype owl:Class HP:0009100 biolink:NamedThing Thick anterior alveolar ridges hp0009lx5z Thick anterior alveolar process of jaw UMLS:C1859377 human_phenotype owl:Class HP:0009085 biolink:NamedThing Alveolar ridge overgrowth Increased width of the alveolar ridges. hp0009lx5z Enlarged alveolar ridge|Hyperplasia of alveolar process of jaw|Thick alveolar ridges|Thickened alveolar ridges|Increased size of gum ridge|Overgrowth of gum ridge|Overgrowth of alveolar ridge|Hypertrophied alveolar ridge|Hyperplasia of alveolar ridge|Alveolar ridge excess|Increased size of alveolar ridge This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding. HP:0009078|HP:0009083 UMLS:C1865598|UMLS:C1856164 human_phenotype owl:Class HP:0009543 biolink:NamedThing Abnormality of the middle phalanx of the 2nd finger hp0009lx5z Abnormality of middle 2nd finger phalanx|Abnormal middle index finger bone doelkens 2009-01-21T10:17:15Z HP:0004131 UMLS:C4021448 human_phenotype owl:Class HP:0006572 biolink:NamedThing Subacute progressive viral hepatitis hp0009lx5z UMLS:C1861901 human_phenotype owl:Class HP:0006562 biolink:NamedThing Viral hepatitis Inflammation of the liver due to infection with a virus. hp0009lx5z UMLS:C0042721|SNOMEDCT_US:3738000 human_phenotype owl:Class HP:0009346 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger. hp0009lx5z Absent end part of innermost long bone of the middle finger doelkens 2009-01-12T11:19:03Z UMLS:C4024422 human_phenotype owl:Class HP:0010268 biolink:NamedThing Absent epiphyses of the proximal phalanges of the hand hp0009lx5z Absent end part of the innermost hand bones doelkens 2009-07-06T04:25:12Z UMLS:C4023933 human_phenotype owl:Class HP:0032633 biolink:NamedThing Intratubular hyaline casts A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. hp0009lx5z Intratubular Tamm-Horsfall (uromodulin) casts peter owl:Class HP:0007260 biolink:NamedThing Type II lissencephaly A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. hp0009lx5z Cobblestone lissencephaly|Lissencephaly type II|Type 2 lissencephaly HP:0006853 SNOMEDCT_US:253149002|MSH:D054222|UMLS:C0431376 human_phenotype owl:Class HP:0010239 biolink:NamedThing Aplasia of the middle phalanx of the hand Absence of one or more middle phalanx of a finger. hp0009lx5z Absent middle bones of hand|Missing middle phalanges|Absent middle phalanges doelkens 2009-07-06T03:59:39Z HP:0005778 UMLS:C1862096 human_phenotype owl:Class HP:0009802 biolink:NamedThing Aplasia of the phalanges of the hand Absence of one or more of the phalanges of the hand. hp0009lx5z Absent finger bone of the hand doelkens 2009-02-12T05:56:07Z UMLS:C4280393|UMLS:C4024203 human_phenotype owl:Class HP:0010252 biolink:NamedThing Ivory epiphyses of the distal phalanges of the hand Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. hp0009lx5z Eburnated epiphyses of distal phalanges|Increased bone density of end part of the outermost hand bones doelkens 2009-07-06T04:23:06Z HP:0006105 UMLS:C4021301 human_phenotype owl:Class HP:0003041 biolink:NamedThing Humeroradial synostosis An abnormal osseous union (fusion) between the radius and the humerus. hp0009lx5z Radiohumeral synostosis of elbow|Humeral radial synostosis|Fusion of upper and lower arm bones|Humeral-radial synostosis|Synostosis of radius and humerus HP:0003936 MSH:C535284|SNOMEDCT_US:205329008|UMLS:C2930865|UMLS:C1863360 human_phenotype owl:Class HP:0003216 biolink:NamedThing Generalized amyloid deposition A diffuse form of amyloidosis. hp0009lx5z Generalised amyloid deposition According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease. UMLS:C1862968 human_phenotype owl:Class HP:0011745 biolink:NamedThing Non-secretory adrenocortical adenoma An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones. hp0009lx5z Non-secretory adrenal adenoma peter 2012-04-21T11:55:18Z UMLS:C4021126 human_phenotype owl:Class HP:0009717 biolink:NamedThing Cortical tubers Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. hp0009lx5z peter 2009-01-31T12:03:16Z UMLS:C1968959 human_phenotype owl:Class HP:0031281 biolink:NamedThing Sialadenitis Inflammation of a salivary gland. hp0009lx5z 2017-08-13 17:06:09+00:00 peter owl:Class HP:0010907 biolink:NamedThing Abnormal circulating proline concentration Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation. hp0009lx5z peter 2010-12-08T07:50:08Z UMLS:C4023661 human_phenotype owl:Class HP:0010902 biolink:NamedThing Abnormal circulating glutamine family amino acid concentration Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation. hp0009lx5z peter 2010-12-03T04:30:22Z UMLS:C4023664 human_phenotype owl:Class HP:0031984 biolink:NamedThing Esophageal food impaction A piece of food that has gotten stuck in the esophagus and prevents further swallowing. hp0009lx5z 2018-07-08 14:55:36+00:00 Although any type of food can become stuck in the esophagus, in the adult population, structural diseases or abnormalities of the esophagus, specifically eosinophilic esophagitis, are the main causes of food impactions. Eosinophilic esophagitis causes solid food to become stuck in the esophagus intermittently. peter owl:Class HP:0032846 biolink:NamedThing Focal motor seizure with negative myoclonus A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure. hp0009lx5z This is seen in the epilepsy syndrome atypical childhood epilepsy with centrotemporal spikes, where an upper limb or the head is affected by localized brief interruption in normal muscle tone. The patient may correct for the loss of tone with overshoot past the primary position. peter owl:Class HP:0009456 biolink:NamedThing Triangular shaped proximal phalanx of the 3rd finger Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped innermost bone of middle finger doelkens 2009-01-14T04:33:41Z UMLS:C4024349 human_phenotype owl:Class HP:0009446 biolink:NamedThing Triangular shaped phalanges of the 3rd finger Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped bone of the middle finger doelkens 2009-01-14T04:09:01Z UMLS:C4024357 human_phenotype owl:Class HP:0100198 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 4th toe hp0009lx5z doelkens 2010-06-24T04:54:59Z UMLS:C4022223 human_phenotype owl:Class HP:0002608 biolink:NamedThing Celiac disease Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases. hp0009lx5z Celiac disease|Celiac sprue|Coeliac sprue|Coeliac disease UMLS:C0007570|SNOMEDCT_US:396331005|MSH:D002446 human_phenotype owl:Class HP:0009003 biolink:NamedThing Increased subcutaneous truncal adipose tissue The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. hp0009lx5z Increased fat below the skin in trunk UMLS:C1837781 human_phenotype owl:Class HP:0001001 biolink:NamedThing Abnormality of subcutaneous fat tissue hp0009lx5z Abnormality of fatty tissue below the skin UMLS:C4025813 human_phenotype owl:Class HP:0100121 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 2nd toe hp0009lx5z Triangular end part of the middle bone of the 2nd toe doelkens 2010-06-24T10:05:37Z UMLS:C4022300 human_phenotype owl:Class HP:0410056 biolink:NamedThing Decreased level of erythritol in CSF A decrease in the level of erythritol in the cerebrospinal fluid. hp0009lx5z Decreased level of erythritol in cerebrospinal fluid 2018-01-27 02:15:08+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0005100 biolink:NamedThing Premature birth following premature rupture of fetal membranes hp0009lx5z Premature birth following premature rupture of foetal membranes UMLS:C1851833 human_phenotype owl:Class HP:0001622 biolink:NamedThing Premature birth The birth of a baby of less than 37 weeks of gestational age. hp0009lx5z Premature delivery|Premature delivery of affected infants|Shortened gestation time|Preterm delivery|Premature birth UMLS:C0151526|SNOMEDCT_US:367494004|UMLS:C0233315|SNOMEDCT_US:282020008|MSH:D047928|SNOMEDCT_US:49550006 human_phenotype owl:Class HP:0033172 biolink:NamedThing Increased triceps skinfold thickness Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased. hp0009lx5z 2020-09-24 10:29:17+00:00 peter owl:Class HP:0033171 biolink:NamedThing Abnormal triceps skinfold thickness Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. hp0009lx5z 2020-09-24 10:27:54+00:00 peter owl:Class HP:0100429 biolink:NamedThing Broad proximal phalanx of the 4th toe hp0009lx5z Wide innermost bone of 4th toe UMLS:C4022098 human_phenotype owl:Class HP:0010382 biolink:NamedThing Abnormality of the proximal phalanx of the 4th toe hp0009lx5z Abnormal innermost 4th toe bone doelkens 2009-07-16T11:51:46Z UMLS:C4023868 human_phenotype owl:Class HP:0004881 biolink:NamedThing Episodic hypoventilation hp0009lx5z Episodic under breathing|Episodic slow breathing UMLS:C1844946 human_phenotype owl:Class HP:0011902 biolink:NamedThing Abnormal hemoglobin Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. hp0009lx5z Abnormal haemoglobin|Abnormal Hb peter 2012-06-03T03:53:23Z UMLS:C0349705 human_phenotype owl:Class HP:0010249 biolink:NamedThing Enlarged epiphyses of the distal phalanges of the hand hp0009lx5z Enlarged end part of the outermost hand bones doelkens 2009-07-06T04:23:06Z UMLS:C4023950 human_phenotype owl:Class HP:0003251 biolink:NamedThing Male infertility hp0009lx5z Male infertility UMLS:C0021364|SNOMEDCT_US:2904007|MSH:D007248 human_phenotype owl:Class HP:0000789 biolink:NamedThing Infertility hp0009lx5z Infertility SNOMEDCT_US:8619003|MSH:D007246|SNOMEDCT_US:15296000|UMLS:C0021359 human_phenotype owl:Class HP:0011712 biolink:NamedThing Right bundle branch block A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. hp0009lx5z Right bundle-branch block peter 2012-04-11T08:02:08Z SNOMEDCT_US:59118001|UMLS:C0085615|MSH:D002037 human_phenotype owl:Class HP:0011710 biolink:NamedThing Bundle branch block Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. hp0009lx5z Bundle-branch block The Bundle of His conducts the electrical impulse from the atrioventricular node into the ventricles. THe Bundle of His divides into right and left bundle branches. A universal feature of a bundle branch block is a prolongation of the time required for depolarization of a portion of the ventricles, reflected in an abnormality of the QRS complex. peter 2012-04-11T07:55:50Z UMLS:C0006384|MSH:D002037|SNOMEDCT_US:6374002 human_phenotype owl:Class HP:0008030 biolink:NamedThing Retinal arteritis hp0009lx5z SNOMEDCT_US:11255009|UMLS:C0271069 human_phenotype owl:Class HP:0032536 biolink:NamedThing Increased number of lymph nodes An abnormally elevated number of lymph nodes in an anatomical region. hp0009lx5z 2019-05-27 13:15:53+00:00 For example, lymphedema-distichiasis syndrome is characterized by an increased number of lymphatic vessels and inguinal lymph nodes. peter owl:Class HP:0040330 biolink:NamedThing Confluent hyperintensity of cerebral white matter on MRI Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together. hp0009lx5z ORCID:0000-0002-5316-1399 owl:Class HP:0012467 biolink:NamedThing Acute respiratory acidosis Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35). hp0009lx5z peter 2013-11-24T01:11:51Z UMLS:C0268047|SNOMEDCT_US:70644008 human_phenotype owl:Class HP:0005972 biolink:NamedThing Respiratory acidosis Acidosis because of respiratory retention of carbon dioxide. hp0009lx5z MSH:D000142|UMLS:C0001127|SNOMEDCT_US:12326000 human_phenotype owl:Class HP:0011918 biolink:NamedThing Clinodactyly of the 4th toe Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). hp0009lx5z Curvature of 4th toe|4th toe clinodactyly peter 2012-06-08T08:44:27Z UMLS:C4020740 human_phenotype owl:Class HP:0007497 biolink:NamedThing Focal friction-related palmoplantar hyperkeratosis Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction. hp0009lx5z Hyperkeratosis, palmoplantar, focal friction-related UMLS:C1835654 human_phenotype owl:Class HP:0000972 biolink:NamedThing Palmoplantar hyperkeratosis Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. hp0009lx5z Thickened palms and soles|Palmoplantar keratosis|Thick palms and soles|Hyperkeratosis of the palms and soles|Thickening of the outer layer of the skin of the palms and soles|Palmoplantar keratoses|Hyperkeratosis of palms and soles The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. UMLS:C0022596|SNOMEDCT_US:706885006|MSH:D007645 owl:Class HP:0009986 biolink:NamedThing Complete duplication of the phalanges of the 5th finger A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. hp0009lx5z Complete duplication of the little finger bone|Complete duplication of the pinkie finger bone|Complete duplication of the pinky finger bone doelkens 2009-05-26T02:24:20Z UMLS:C4024128 human_phenotype owl:Class HP:0003423 biolink:NamedThing Thoracolumbar kyphoscoliosis hp0009lx5z Dorsolumbar kyphosis UMLS:C1859335 human_phenotype owl:Class HP:0002944 biolink:NamedThing Thoracolumbar scoliosis hp0009lx5z Scoliosis, thoracolumbar HP:0004567|HP:0004585 UMLS:C0749379 human_phenotype owl:Class HP:0100396 biolink:NamedThing Short proximal phalanx of the 4th toe Developmental hypoplasia of the proximal phalanx of fourth toe. hp0009lx5z Hypoplastic/small proximal phalanx of the 4th toe|Short fourth toe proximal phalanx|Short proximal phalanx of the fourth toe HP:0005628 UMLS:C4021001 human_phenotype owl:Class HP:0100367 biolink:NamedThing Short phalanx of the 4th toe Developmental hypoplasia of one or more phalanx of fourth toe. hp0009lx5z Hypoplastic/small phalanges of the 4th toe|Short 4th toe bone|Short phalanx of the fourth toe UMLS:C4021013 human_phenotype owl:Class HP:0031815 biolink:NamedThing Abnormal oral physiology A functional anomaly of the mouth (which is also known as the oral cavity). hp0009lx5z 2018-04-29 14:50:56+00:00 The physiological functions of the mouth include salivary gland secretory function, mastication (chewing) and preparation of food for swallowing. peter owl:Class HP:0000153 biolink:NamedThing Abnormality of the mouth An abnormality of the mouth. hp0009lx5z Abnormality of the mouth|Abnormal mouth MSH:D009056|SNOMEDCT_US:128334002|UMLS:C0026633 human_phenotype owl:Class HP:0100022 biolink:NamedThing Abnormality of movement An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. hp0009lx5z Unusual movement|Abnormality of movement|Movement disorder Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy. doelkens 2010-05-28T11:48:50Z HP:0001294 MSH:D009069|SNOMEDCT_US:60342002|UMLS:C0026650 owl:Class HP:0032300 biolink:NamedThing Increased circulating IgG4 level An abnormally increased concentration of the IgG4 subtype in the blood circulation. hp0009lx5z 2019-02-12 22:56:05+00:00 Allergens are often good inducers of IgG1 and IgG4, in addition to IgE. IgG4 antibodies are often formed following repeated or long-term exposure to antigen in a non-infectious setting and may become the dominant subclass. peter owl:Class HP:0032296 biolink:NamedThing Increased circulating IgG subclass An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses. hp0009lx5z 2019-02-12 22:46:56+00:00 The four subclasses, IgG1, IgG2, IgG3, and IgG4, which are highly conserved, differ in their constant region, particularly in their hinges and upper CH2 domains. These regions are involved in binding to both IgG-Fc receptors (Fc-gammaR) and C1q. As a result, the different subclasses have different effector functions, peter owl:Class HP:0011926 biolink:NamedThing Proximal placement of hallux Proximal mislocalization of the big toe from its normal position. hp0009lx5z Proximally placed halluces|Proximal placement of big toe Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. peter 2012-06-09T03:29:59Z UMLS:C4021110 human_phenotype owl:Class HP:0010051 biolink:NamedThing Deviation of the hallux Displacement of the big toe from its normal position. hp0009lx5z Displacement of the hallux|Displacement of big toe doelkens 2009-05-29T11:36:44Z HP:0004700 UMLS:C4021344 human_phenotype owl:Class HP:0032678 biolink:NamedThing Eyelid myoclonia seizure An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness. hp0009lx5z peter owl:Class HP:0002123 biolink:NamedThing Generalized myoclonic seizure A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. hp0009lx5z Generalised myoclonic seizures|Myoclonic epilepsy, progressive|Generalized myoclonic seizures|Generalised myoclonic seizure|Myoclonus seizures|Generalized epileptic myoclonus|Generalised epileptic myoclonus HP:0007284|HP:0007294|HP:0006902|HP:0007202|HP:0007075|HP:0006869 SNOMEDCT_US:37356005|UMLS:C0014550|MSH:D004831|MSH:D020191|UMLS:C0751778|UMLS:C4021759|SNOMEDCT_US:267581004|SNOMEDCT_US:192992007 owl:Class HP:0008087 biolink:NamedThing Nonossified fifth metatarsal The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible. hp0009lx5z UMLS:C1844712 human_phenotype owl:Class HP:0031973 biolink:NamedThing Increased vertical cup-to-disc ratio An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. hp0009lx5z 2018-07-08 00:08:21+00:00 Primary open angle glaucoma is causing a progressive optic neuropathy and its development is associated with loss of tissue in the neuroretinal rim of the optic disc and that will lead to increase in the size of the optic cup. Clinical estimation of the size of the cup using either the slit lamb or a simple imaging modalities such as fundus images is a significant clinical parameter and remains the simplest and most frequently performed assessment of the optic disc in the diagnosis and follows up the progression of the glaucoma suspect. The estimation of the size of the cup is usually made by comparison with the size of the disc and given as the ratio of the vertical and horizontal diameter of the cup to the vertical and horizontal diameter. peter owl:Class HP:0012796 biolink:NamedThing Increased cup-to-disc ratio An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. hp0009lx5z Elevated cup to disc ratio|Increased cup disc ratio A cup to disc ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified. peter 2014-05-24T04:43:52Z UMLS:C3805911 human_phenotype owl:Class HP:0031389 biolink:NamedThing Abnormal MHC II surface expression A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. hp0009lx5z 2017-09-02 17:00:16+00:00 peter owl:Class HP:0006315 biolink:NamedThing Solitary median maxillary central incisor A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. hp0009lx5z Single median incisor|Only one upper front tooth|Solitary median maxillary central incisor syndrome|Single maxillary central incisor|Single midline upper front tooth|Solitary median maxillary central incisor|Single median maxillary central incisor|Single central upper incisor|Single central incisor|Single midline maxillary incisor|Solitary midline maxillary central incisor|Single median maxillary incisor The tooth differs from a normal central incisor in the symmetric formation of the crown. The tooth is present in both deciduous and permanent dentition. Solitary/single median maxillary central incisor syndrome indicates the presence of a single median maxillary central incisor together with other midline defects of development. A single maxillary central incisor not positioned in the midline indicates agenesis of the contralateral central incisor and A single maxillary central incisor positioned in the midline with mor- can be differentiated furthermore by the morphology of the crown. A diagnosis of a solitary median maxillary central incisor typically requires X-rays examinations. HP:0001568|HP:0006356|HP:0001573 MSH:C537342|UMLS:C1840235|SNOMEDCT_US:707609006 owl:Class HP:0011064 biolink:NamedThing Abnormal number of incisors The presence of an altered number of the incisor teeth. hp0009lx5z Abnormal number of front teeth|Abnormal number of incisors peter 2011-03-10T02:09:16Z UMLS:C4023554 human_phenotype owl:Class HP:0032172 biolink:NamedThing Air crescent sign A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan. hp0009lx5z 2019-01-06 10:55:10+00:00 The air crescent sign is said to be characteristic of invasive pulmonary aspergillosis, but it can also be seen in cavitating neoplasms, lung abscesses, and infections. This sign is considered a good marker of immune activity as it is seen when the necrotic tissue gets invaded by leukocytes and replaced by air in invasive pulmonary aspergillosis. Other conditions in which air crescent sign can be seen are pulmonary gangrene, pulmonary hematoma, Rasmussen aneurysm in a tuberculous cavity, and lung hydatid. peter owl:Class HP:0004608 biolink:NamedThing Anteriorly placed odontoid process Anterior mislocalization of the dens of the axis. hp0009lx5z UMLS:C1844512 human_phenotype owl:Class HP:0003310 biolink:NamedThing Abnormality of the odontoid process Abnormality of the dens of the axis, which is also known as the odontoid process. hp0009lx5z Abnormal odontoid process|Abnormal odontoid peg The dens of the axis is a protuberance of the C2 vertebral body around which the first vertebra rotates. HP:0004600 UMLS:C1864794 human_phenotype owl:Class HP:0001681 biolink:NamedThing Angina pectoris Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. hp0009lx5z SNOMEDCT_US:194828000|SNOMEDCT_US:225566008|UMLS:C0002962|MSH:D000787 owl:Class HP:0041176 biolink:NamedThing Fractured distal phalanx of manual digit 2 A partial or complete breakage of the distal phalanx of manual digit 2. hp0009lx5z bone distal phalanx of manual digit 2 owl:Class HP:0100126 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe hp0009lx5z Fragmentation of the end part of the innermost bone of the 2nd toe doelkens 2010-06-24T10:06:29Z UMLS:C4022295 human_phenotype owl:Class HP:0100048 biolink:NamedThing Fragmentation of the epiphyses of the 2nd toe hp0009lx5z Fragmentation of the end part of the 2nd toe bone doelkens 2010-06-24T09:58:18Z UMLS:C4022373 human_phenotype owl:Class HP:0004302 biolink:NamedThing Functional motor deficit hp0009lx5z Functional motor problems peter 2008-02-20T11:52:00Z UMLS:C4025360 human_phenotype owl:Class HP:0500013 biolink:NamedThing Lack of gonadotropin-releasing hormone pulsatility Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion. hp0009lx5z Absence of GnRH pulsatility The decapeptide gonadotropin-releasing hormone (GnRH) is the master hormone regulating reproduction. GnRH is released from some 1000 neurons within the hypothalamus in a pulsatile manner. Hypothalamic GnRH gene expression occurs intermittently (in a pulsatile fashion). The primary target of hypothalamic GnRH is the anterior pituitary gonadotrope, which responds to stimulation by increasing the synthesis and secretion of the gonadotropins luteinzing hormone (LH) and follicle stimulating hormone (FSH), which in turn regulate gonadal development and function. owl:Class HP:0500012 biolink:NamedThing Abnormality of gonadotropin-releasing hormone level A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland. hp0009lx5z Abnormality of GnRH level owl:Class HP:0010434 biolink:NamedThing Aplasia of the middle phalanx of the 2nd toe hp0009lx5z Absent middle bone of 2nd toe doelkens 2009-07-16T04:28:48Z UMLS:C4023828 human_phenotype owl:Class HP:0000855 biolink:NamedThing Insulin resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. hp0009lx5z Body fails to respond to insulin SNOMEDCT_US:48606007|UMLS:C0021655|MSH:D007333 human_phenotype owl:Class HP:0100582 biolink:NamedThing Nasal polyposis Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. hp0009lx5z Nasal polyps|Polys of nose|Polyposis nasi Nasal polyps (NP) are benign lesions arising from the mucosa of the nasal sinuses (commonly at the outflow tract of one or more of the sinuses) or from the mucosa of the nasal cavity. The main presenting symptom of NP is nasal obstruction which is constant but can vary depending on the site and size of the polyps. Sufferers will also frequently complain of watery rhinorrhea and postnasal drip. Anosmia or hyposmia with an ensuing alteration in taste are also characteristic symptoms of NP. doelkens 2010-12-27T02:47:15Z HP:0000462 MSH:D009298|UMLS:C0027430|SNOMEDCT_US:52756005 owl:Class HP:0000433 biolink:NamedThing Abnormal nasal mucosa morphology hp0009lx5z Abnormality of nasal mucous membrane|Abnormality of the nasal mucosa|Abnormality of mucosa of nose|Abnormality of mucous membrane of nose UMLS:C4025854 owl:Class HP:0030673 biolink:NamedThing Erosive vitreoretinopathy A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. hp0009lx5z ORCID:0000-0003-0986-4123 MSH:C536075|SNOMEDCT_US:232064001|UMLS:C1840452 owl:Class HP:0007773 biolink:NamedThing Vitreoretinopathy Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. hp0009lx5z Vitreoretinal abnormality|Vitreoretinal degeneration HP:0000655 UMLS:C1850109 human_phenotype owl:Class HP:0010782 biolink:NamedThing Shoulder dimple A subtype of skin dimples occurring in the shoulder region. hp0009lx5z Shoulder dimples|Bi-acromial dimples|Acromial dimple Symmetrical dimples of the skin overlying the acromial process of the scapulae are called bi-acromial dimples. peter 2010-04-30T11:36:51Z UMLS:C4023704 human_phenotype owl:Class HP:0010781 biolink:NamedThing Skin dimple Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. hp0009lx5z Skin dimples peter 2010-04-30T11:34:41Z SNOMEDCT_US:301854006|UMLS:C0578531 human_phenotype owl:Class HP:0003899 biolink:NamedThing Round humeral epiphyses hp0009lx5z Round end part of long bone in upper arm UMLS:C4025521 human_phenotype owl:Class HP:0003843 biolink:NamedThing Round epiphyses of the upper limbs hp0009lx5z Round end part of upper limb bones UMLS:C4025557 human_phenotype owl:Class HP:0003393 biolink:NamedThing Thenar muscle atrophy Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. hp0009lx5z Thenar atrophy UMLS:C1864715 owl:Class HP:0012417 biolink:NamedThing Hypocapnia Abnormally reduced blood carbon dioxide (CO2) level. hp0009lx5z Reduced carbon dioxide in the blood|Hypocarbia peter 2013-11-10T05:06:10Z SNOMEDCT_US:61031008|MSH:D016857|UMLS:C0085383 human_phenotype owl:Class HP:0500164 biolink:NamedThing Abnormal blood carbon dioxide level An abnormality of carbon dioxide (CO2) in the arterial blood. hp0009lx5z Abnormal blood carbon dioxide level|Abnormal CO2 levels in blood 2018-10-17 15:09:16+00:00 owl:Class HP:0009665 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the thumb An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of thumb innermost long bone doelkens 2009-01-30T09:17:13Z UMLS:C4024252 human_phenotype owl:Class HP:0500209 biolink:NamedThing Abnormal CSF methionine concentration Any deviation from the normal concentration of methionine in the cerebrospinal fluid. hp0009lx5z Abnormal methionine levels in cerebrospinal fluid 2019-02-25 18:58:00+00:00 owl:Class HP:0500205 biolink:NamedThing Abnormal CSF aspartate family amino acid concentration Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. hp0009lx5z Abnormal aspartate-family amino acid levels in cerebrospinal fluid 2019-02-25 18:30:37+00:00 owl:Class HP:0033047 biolink:NamedThing Body ache Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body. hp0009lx5z peter owl:Class HP:0011614 biolink:NamedThing Interrupted aortic arch type C Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries. hp0009lx5z peter 2012-04-08T03:19:48Z UMLS:C0345094|SNOMEDCT_US:253683008 human_phenotype owl:Class HP:0011611 biolink:NamedThing Interrupted aortic arch Non-continuity of the arch of aorta with an atretic point or absent segment. hp0009lx5z Aortic arch obstruction|Atretic transverse aortic arch peter 2012-04-08T03:17:10Z HP:0006680 SNOMEDCT_US:218728005|Fyler:1241|UMLS:C0152419|Fyler:1250 human_phenotype owl:Class HP:0031962 biolink:NamedThing Elevated serum anion gap An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). hp0009lx5z 2018-07-07 14:29:56+00:00 Elevated values of the serum anion gap most commonly indicate metabolic acidosis but can reflect laboratory error, metabolic alkalosis, hyperphosphatemia, or paraproteinemia. Metabolic acidosis can be divided into high anion and normal anion gap varieties, which can be present alone or concurrently. peter owl:Class HP:0031961 biolink:NamedThing Abnormal serum anion gap Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration. hp0009lx5z 2018-07-07 14:27:01+00:00 The determination of the anion gap is used in the detection and analysis of acid-base disorders, assessment of quality control in the chemical laboratory, and detection of such disorders as multiple myeloma, bromide intoxication, and lithium intoxication. The normal value can vary widely, reflecting both differences in the methods that are used to measure its constituents and substantial interindividual variability. peter owl:Class HP:0030135 biolink:NamedThing Absence of intermediate von Willibrand factor multimers Lack of intermediate von Willebrand Factor multimers on gel electrophoresis. hp0009lx5z Type 2A von Willibrand disease is characterized by the absence of large and intermediate von Willebrand Factor multimers on gel electrophoresis, with preservation of an otherwise normal multimer pattern. UMLS:C4022613 owl:Class HP:0030131 biolink:NamedThing Abnormal von Willebrand factor multimer distribution Deviation from the normal von Willebrand factor multimer pattern. hp0009lx5z UMLS:C4022617 owl:Class HP:0025241 biolink:NamedThing Flame-shaped retinal hemorrhage A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells). hp0009lx5z Feathered retinal heme|Flame-shaped retinal haemorrhage|Linear retina heme 2016-12-17 01:14:14+00:00 Flame-shaped hemorrhages are typically located in the posterior pole and tend to resolve within around six weeks. THeir pathophysiology is thought to reflect ischemic leakage from arterioles or veins that are ischemic or, in the case of veins, under high pressure. HPO:probinson owl:Class HP:0011859 biolink:NamedThing Punctate keratitis A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. hp0009lx5z hecht 2012-05-21T12:18:03Z UMLS:C1562761|SNOMEDCT_US:416300008 human_phenotype owl:Class HP:0000491 biolink:NamedThing Keratitis Inflammation of the cornea. hp0009lx5z Corneal inflammation SNOMEDCT_US:5888003|MSH:D007634|UMLS:C0022568 human_phenotype owl:Class HP:0012248 biolink:NamedThing Prolonged PR interval Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). hp0009lx5z Electrocardiographic long PR interval|Lengthened PR interval on EKG In adults, normal values are 120 to 200 ms long. peter 2013-04-07T08:52:29Z UMLS:C0600125|SNOMEDCT_US:164947007 human_phenotype owl:Class HP:0031593 biolink:NamedThing Abnormal PR interval An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds. hp0009lx5z 2017-10-15 13:27:21+00:00 The PR interval begins at the onset of the P wave and ends at the onset of the QRS complex. This interval reflects the time the impulse takes to reach the ventricles from the sinus node. In contrast, the PR segment begins at the endpoint of the P wave and ends at the onset of the QRS complex. It reflects the conduction from the atrioventricular node, down the bundle of His and through the bundle branches to the muscle. peter owl:Class HP:0012316 biolink:NamedThing Fibrous tissue neoplasm Any neoplasm composed of fibrous tissue. hp0009lx5z peter 2013-08-10T12:31:38Z UMLS:C0206643|MSH:D018218 human_phenotype owl:Class HP:0009970 biolink:NamedThing Partial duplication of the proximal phalanx of the 3rd finger Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Partial duplication of the proximal bone of the middle finger doelkens 2009-05-26T12:49:59Z UMLS:C4024137 human_phenotype owl:Class HP:0009961 biolink:NamedThing Partial duplication of the phalanges of the 3rd finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. hp0009lx5z Partial duplication of middle finger bones doelkens 2009-05-26T12:46:36Z UMLS:C4024142 human_phenotype owl:Class HP:0012072 biolink:NamedThing Aciduria Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. hp0009lx5z Acidic urine UMLS:C0278026|SNOMEDCT_US:21806007 owl:Class HP:0032943 biolink:NamedThing Abnormal urine pH A deviation of urine pH from the normal range of 4.5 to 7.8. hp0009lx5z Urine pH typically is 5 as a result of daily net acid excretion. The interpretation of the urine pH depends on the medical context. peter owl:Class HP:0033385 biolink:NamedThing Elevated urine pyridinoline level An increased amount of pyridinoline in the urine. hp0009lx5z Elevated urine hydroxylysyl-pyridinoline level 2021-01-02 13:31:16+00:00 The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidised by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. peter owl:Class HP:0003956 biolink:NamedThing Bowed forearm bones A bending or abnormal curvature affecting either the radius, the ulna, or both. hp0009lx5z Bowed forearm bones UMLS:C4025481 human_phenotype owl:Class HP:0040073 biolink:NamedThing Abnormal forearm bone morphology hp0009lx5z Abnormal shape of of forearm bone HPO:skoehler UMLS:C4022451 owl:Class HP:0004336 biolink:NamedThing Myelin outfoldings The presence of excessive redundant myelin in the peripheral nerve sheath. hp0009lx5z Irregular myelin foldings|Excessive focal folding of myelin sheaths This finding can be demonstrated by nerve biopsy (e.g., sural nerve biopsy). peter 2008-03-04T06:41:00Z HP:0007290|HP:0003433|HP:0006898 UMLS:C1843168 human_phenotype owl:Class HP:0000910 biolink:NamedThing Wide-cupped costochondral junctions hp0009lx5z UMLS:C1861213 human_phenotype owl:Class HP:0000919 biolink:NamedThing Abnormality of the costochondral junction Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. hp0009lx5z Costochondral juctions abnormal The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. UMLS:C4021791 human_phenotype owl:Class HP:0008802 biolink:NamedThing Hypoplasia of the femoral head Underdevelopment of the femoral head. hp0009lx5z Small head of thigh bone|Small femoral heads|Hypoplastic femoral head HP:0008831 UMLS:C1856920 human_phenotype owl:Class HP:0010119 biolink:NamedThing Ivory epiphyses of the hallux hp0009lx5z Increased bone density of end part of the big toe bone doelkens 2009-05-29T01:16:38Z UMLS:C4024040 human_phenotype owl:Class HP:0001795 biolink:NamedThing Hyperconvex nail When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. hp0009lx5z Nail overcurvature|Increased nail curvature No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified. HP:0008413 UMLS:C0423807|SNOMEDCT_US:247487009 human_phenotype owl:Class HP:0011521 biolink:NamedThing Deuteranopia Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green. hp0009lx5z Green-blind Blue and red cones only; no functional green cones. peter 2012-04-06T07:34:40Z SNOMEDCT_US:77479002|MSH:D003117|UMLS:C0155016|SNOMEDCT_US:246674000 human_phenotype owl:Class HP:0000642 biolink:NamedThing Red-green dyschromatopsia Difficulty with discriminating red and green hues. hp0009lx5z Red green colour blindness|Red/green colour vision defect|Red/green color vision defect|Dyschromatopsia with red-green confusion|Red green color blindness HP:0007960 MSH:D003117|UMLS:C0155016|SNOMEDCT_US:246674000|UMLS:C1970168|SNOMEDCT_US:77479002 human_phenotype owl:Class HP:0001696 biolink:NamedThing Situs inversus totalis A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs. hp0009lx5z situs transversus|situs oppositus|Situs inversus|All organs on wrong side of body MSH:D012857|SNOMEDCT_US:24614000|SNOMEDCT_US:27317008|Fyler:0100|Fyler:100|SNOMEDCT_US:14821001|MSH:D059446|UMLS:C0266642|UMLS:C0037221|SNOMEDCT_US:43876007 owl:Class HP:0007369 biolink:NamedThing Atrophy/Degeneration affecting the cerebrum The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. hp0009lx5z peter 2008-04-01T10:28:00Z UMLS:C4024898 human_phenotype owl:Class HP:0030802 biolink:NamedThing Lower eyelid retraction Inferior malposition of the lower eyelid margin without eyelid eversion. hp0009lx5z This is is not to be confused with ectropion (eyelid eversion). Lower eyelid retraction presents clinically with scleral show; round, sad-looking eyes; lateral canthal tendon laxity; and symptoms of ocular irritation, including photophobia, excessive tearing, and nocturnal lagophthalmos. UMLS:C1861656|SNOMEDCT_US:700264006 owl:Class HP:0001886 biolink:NamedThing Foot osteomyelitis An infection of bone of the foot. hp0009lx5z Foot bone infection UMLS:C4025737 human_phenotype owl:Class HP:0030234 biolink:NamedThing Highly elevated creatine kinase An increased CPK level between 4X and 50X above the upper normal level. hp0009lx5z Highly elevated CPK|Highly elevated serum phosph-CK|Highly elevated serum CK|Highly elevated creatine phosphokinase|Highly elevated serum CPK UMLS:C4022565 owl:Class HP:0003236 biolink:NamedThing Elevated circulating creatine kinase concentration An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. hp0009lx5z Increased CPK|Elevated circulating creatine phosphokinase|Increased serum CK|Elevated creatine kinase|Increased creatine kinase|Increased serum creatine kinase|Increased creatine phosphokinase|Increased serum creatine phosphokinase|Elevated serum CPK|Elevated blood creatine phosphokinase|Elevated serum creatine phosphokinase|Elevated serum creatine kinase|High serum creatine kinase 'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal)) HP:0002147|HP:0008164|HP:0003531|HP:0003525|HP:0003078|HP:0002906 UMLS:C0151576|UMLS:C0241005 owl:Class HP:0030064 biolink:NamedThing Neurocytoma A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles. hp0009lx5z Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. MSH:D018306|SNOMEDCT_US:128858006|UMLS:C1622510 owl:Class HP:0100586 biolink:NamedThing Sterile pyuria Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria. hp0009lx5z Aseptic leukocyturia doelkens 2010-12-27T03:09:12Z UMLS:C4022017 human_phenotype owl:Class HP:0012085 biolink:NamedThing Pyuria The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase. hp0009lx5z Leukocyturia|High urine neutrophil count peter 2012-08-20T09:10:26Z SNOMEDCT_US:4800001|UMLS:C0034359|MSH:D011776|SNOMEDCT_US:275765006 human_phenotype owl:Class HP:0025628 biolink:NamedThing Increased circulating myristoleate level An abnormally high concentration of myristoleate in the blood circulation. hp0009lx5z 2019-04-09 00:31:41+00:00 HPO:probinson owl:Class HP:0003455 biolink:NamedThing Elevated circulating long chain fatty acid concentration Increased concentration of long-chain fatty acids in the blood circulation. hp0009lx5z Elevated long chain fatty acids|Increased serum long-chain fatty acids|Elevated serum long-chain fatty acids This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes. HP:0045016|HP:0008333 UMLS:C1859241 human_phenotype owl:Class HP:0012258 biolink:NamedThing Abnormal axonemal organization of respiratory motile cilia Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. hp0009lx5z Abnormal axonemal organisation of respiratory motile cilia Abnormal axonemal organization comprises anomalies such as an eccentric central pair of microtubuli, abnormal radial spokes and nexin links, reduced number of inner dynein arms, and displacement of the outer doublet. peter 2013-04-07T09:49:56Z UMLS:C4022987 human_phenotype owl:Class HP:0032540 biolink:NamedThing Joint flexor surface localization Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed). hp0009lx5z 2019-05-27 13:51:06+00:00 peter owl:Class HP:0010115 biolink:NamedThing Cone-shaped epiphyses of the hallux hp0009lx5z Cone-shaped end part of the big toe bone doelkens 2009-05-29T01:16:38Z UMLS:C4024044 human_phenotype owl:Class HP:0100957 biolink:NamedThing Abnormal renal medulla morphology Any structural abnormality of the medulla of the kidney. hp0009lx5z Abnormality of the renal medulla The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis. doelkens 2011-12-12T10:02:15Z HP:0005582 UMLS:C4021911 human_phenotype owl:Class HP:0009127 biolink:NamedThing Abnormality of the musculature of the limbs hp0009lx5z Abnormal limb muscles|Muscle issues in the arms and/or legs peter 2008-04-07T02:00:00Z UMLS:C4024582 human_phenotype owl:Class HP:0041248 biolink:NamedThing Fractured carpal bone A partial or complete breakage of the carpal bone. hp0009lx5z Wrist fracture|Fractured wrist|Carpal bone fracture|Broken wrist|bone carpal bone owl:Class HP:0006548 biolink:NamedThing Pulmonary arteriovenous malformation Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. hp0009lx5z Pulmonary AV malformation HP:0002114|HP:0006537 UMLS:C1857690|Fyler:2210 owl:Class HP:0004930 biolink:NamedThing Abnormality of the pulmonary vasculature hp0009lx5z Abnormality of the lung blood vessels peter 2008-03-26T04:07:00Z UMLS:C4025271 owl:Class HP:0008301 biolink:NamedThing Dermatan sulfate excretion in urine An increased concentration of dermatan sulfate in the urine. hp0009lx5z Dermatan sulphate excretion in urine Dermatan sulfate is a a glycosaminoglycan (mucopolysaccharide) found in skin, blood vessels, heart valves, tendons, and lungs. UMLS:C1854774 human_phenotype owl:Class HP:0003397 biolink:NamedThing Generalized hypotonia due to defect at the neuromuscular junction hp0009lx5z Generalised hypotonia due to defect at the neuromuscular junction UMLS:C1853950 human_phenotype owl:Class HP:0001290 biolink:NamedThing Generalized hypotonia Generalized muscular hypotonia (abnormally low muscle tone). hp0009lx5z Hypotonia, generalised|Generalized muscular hypotonia|Generalised decreased muscle tone|Generalised muscular hypotonia|Generalized decreased muscle tone|Generalised hypotonia|Hypotonia, generalized UMLS:C1858120 owl:Class HP:0001262 biolink:NamedThing Excessive daytime somnolence A state of abnormally strong desire for sleep during the daytime. hp0009lx5z More than typical sleepiness during day|Excessive daytime sleepiness HP:0002189 SNOMEDCT_US:271782001|SNOMEDCT_US:79519003|UMLS:C2830004 owl:Class HP:0100859 biolink:NamedThing Dilatation of superior mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery . hp0009lx5z Superior mesenteric artery aneurysm Aneurysm is considered a severe form of dilatation. doelkens 2011-11-30T10:07:35Z UMLS:C0264974|SNOMEDCT_US:65498003 human_phenotype owl:Class HP:0011934 biolink:NamedThing Dilatation of mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery . hp0009lx5z Mesenteric artery aneurysm Aneurysm is considered a severe form of dilatation. peter 2012-06-10T01:48:30Z UMLS:C4023119 human_phenotype owl:Class HP:0011998 biolink:NamedThing Postprandial hyperglycemia An increased concentration of glucose in the blood following a meal. hp0009lx5z peter 2012-07-19T12:07:59Z UMLS:C1855520|MSH:D006943 human_phenotype owl:Class HP:0003074 biolink:NamedThing Hyperglycemia An increased concentration of glucose in the blood. hp0009lx5z High blood sugar|High blood glucose MSH:D006943|SNOMEDCT_US:80394007|SNOMEDCT_US:237598005|UMLS:C0020456 human_phenotype owl:Class HP:0002574 biolink:NamedThing Episodic abdominal pain An intermittent form of abdominal pain. hp0009lx5z Intermittent abdominal pain UMLS:C3808022|UMLS:C0262527 human_phenotype owl:Class HP:0100272 biolink:NamedThing Branchial sinus A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. hp0009lx5z Branchial cleft sinus Branchial sinuses have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear. doelkens 2010-07-27T10:10:03Z UMLS:C0266624|SNOMEDCT_US:253259008 human_phenotype owl:Class HP:0009794 biolink:NamedThing Branchial anomaly Congenital developmental defect arising from the primitive branchial apparatus. hp0009lx5z Branchial abnormality|Branchial anomalies|Abnormality of branchial apparatus|Abnormality of branchial arch During embryonic development the major head and neck structures are formed from the five pharyngeal arches (bands of tissue). Incomplete, failed or persistent embryonic development of these arches results in several anomalies or defects in the neck. peter 2009-02-11T05:16:20Z UMLS:C1862066 human_phenotype owl:Class HP:0005001 biolink:NamedThing Recurrent patellar dislocation Patellar dislocation occurring repeated times. hp0009lx5z Recurrent dislocation of patellas SNOMEDCT_US:202246002|UMLS:C0409412 human_phenotype owl:Class HP:0002999 biolink:NamedThing Patellar dislocation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. hp0009lx5z Dislocated patellae|Dislocated kneecap|Dislocation of patella UMLS:C1135812|SNOMEDCT_US:263029007|MSH:D031222 human_phenotype owl:Class HP:0031770 biolink:NamedThing Epicanthus palpebralis A type of epicanthus in which a medial vertical fold is present between upper and lower lids. hp0009lx5z 2018-01-25 11:23:16+00:00 peter owl:Class HP:0000286 biolink:NamedThing Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. hp0009lx5z Plica palpebronasalis|Epicanthal folds|Epicanthic folds|Prominent eye folds|Epicanthal fold|Eye folds|Palpebronasal fold In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. HP:0000624|HP:0007930 UMLS:C0678230 human_phenotype owl:Class HP:0011659 biolink:NamedThing Tetralogy of Fallot with absent pulmonary valve Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue. hp0009lx5z Tetralogy of Fallot with absent pulmonary valve syndrome peter 2012-04-09T10:15:04Z UMLS:C1302264|SNOMEDCT_US:399228007 human_phenotype owl:Class HP:0005134 biolink:NamedThing Absence of the pulmonary valve Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. hp0009lx5z Absent pulmonary valve The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients. HP:0005131 UMLS:C0265831|SNOMEDCT_US:6996004 human_phenotype owl:Class HP:0006490 biolink:NamedThing Abnormality of lower-limb metaphyses hp0009lx5z Abnormality of the wide portion of the lower-limb bone peter 2008-03-28T06:02:00Z UMLS:C4025039 human_phenotype owl:Class HP:0011526 biolink:NamedThing Abnormality of lens shape An abnormal shape of the lens. hp0009lx5z Abnormality of lens shape peter 2012-04-06T09:16:11Z UMLS:C4023314 human_phenotype owl:Class HP:0000517 biolink:NamedThing Abnormality of the lens An abnormality of the lens. hp0009lx5z Abnormality of the lens|Lens disease|Lens issue MSH:D007905|SNOMEDCT_US:10810001|UMLS:C0023308|UMLS:C0549651 human_phenotype owl:Class HP:0005583 biolink:NamedThing Tubular basement membrane disintegration DIsruption and breaking up of the basement membrane of the tubules of the kidney. hp0009lx5z Disintegration of the tubular basement membrane Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction. HP:0005577 UMLS:C1968618 human_phenotype owl:Class HP:0500192 biolink:NamedThing Abnormal CSF isoleucine concentration Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid. hp0009lx5z Abnormal isoleucine levels in cerebrospinal fluid 2019-02-25 16:24:44+00:00 owl:Class HP:0500185 biolink:NamedThing Abnormal CSF branched chain amino acid concentration Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. hp0009lx5z Abnormal branched-chain amino acid levels in cerbrospinal fluid 2019-02-25 15:24:13+00:00 owl:Class HP:0001941 biolink:NamedThing Acidosis Abnormal acid accumulation or depletion of base. hp0009lx5z When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. HP:0001940 MSH:D000138|UMLS:C0001122|SNOMEDCT_US:51387008 human_phenotype owl:Class HP:0011789 biolink:NamedThing Impaired sensitivity to thyroid stimulating hormone Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH). hp0009lx5z TSHR defect|Thyroid-stimulating hormone receptor defect peter 2012-04-22T06:32:33Z UMLS:C4023189 human_phenotype owl:Class HP:0100811 biolink:NamedThing Aplasia/Hypoplasia of the colon Congenital absence or underdevelopment of the colon. hp0009lx5z Absent/small colon|Absent/underdeveloped colon doelkens 2011-06-09T01:54:57Z UMLS:C4021964 human_phenotype owl:Class HP:0005245 biolink:NamedThing Intestinal hypoplasia Developmental hypoplasia of the intestine. hp0009lx5z Underdeveloped instestine|Hypoplastic intestines UMLS:C4021640 human_phenotype owl:Class HP:0002908 biolink:NamedThing Conjugated hyperbilirubinemia hp0009lx5z Direct hyperbilirubinemia HP:0008351 SNOMEDCT_US:9326001|UMLS:C0268307 human_phenotype owl:Class HP:0001890 biolink:NamedThing Autoimmune hemolytic anemia An autoimmune form of hemolytic anemia. hp0009lx5z Autoimmune hemolytic anaemia|Autoimmune haemolytic anaemia|Hemolytic anemia, autoimmune UMLS:C0002880|SNOMEDCT_US:413603009|MSH:D000744 owl:Class HP:0410367 biolink:NamedThing Increased hepatitis A virus antibody level An abnormally increased level of immunoglobulin against hepatitis A virus in the blood. hp0009lx5z owl:Class HP:0010702 biolink:NamedThing Increased circulating antibody level An increased level of gamma globulin (immunoglobulin) in the blood. hp0009lx5z Increased antibody level in blood|Hyperglobulinemia|Hypergammaglobulinaemia|Increased serum gamma globulin|Increased gamma globulin|Raised immunoglobulin levels|Hypergammaglobulinemia|Increased immunoglobulin level|Elevated immunoglobulin levels In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. peter 2010-03-22T08:20:07Z HP:0004435|HP:0002852|HP:0004314 UMLS:C1306857|UMLS:C0541985|SNOMEDCT_US:129646001|UMLS:C0020455|MSH:D006942|UMLS:C0151669|UMLS:C2048011|SNOMEDCT_US:127388009 human_phenotype owl:Class HP:0033486 biolink:NamedThing Abnormal glomerular basement membrane texture Anomalous appearance or structure of the surface of the glomerular basement membrane. hp0009lx5z 2021-01-10 12:45:09+00:00 peter owl:Class HP:0100075 biolink:NamedThing Stippling of the epiphyses of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe. hp0009lx5z Speckled calcifications in the end part of the 4th toe bone doelkens 2010-06-24T09:59:30Z UMLS:C4022346 human_phenotype owl:Class HP:0010171 biolink:NamedThing Epiphyseal stippling of toe phalanges The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes. hp0009lx5z Speckled calcifications in long toe bones|Stippling of the epiphyses of the toes doelkens 2009-05-29T01:34:06Z UMLS:C4021332 human_phenotype owl:Class HP:0003388 biolink:NamedThing Easy fatigability Increased susceptibility to fatigue. hp0009lx5z Tired easily Fatigue describes the inability to continue performing a task after multiple repetitions. UMLS:C1837098|SNOMEDCT_US:248268002|UMLS:C0424585 human_phenotype owl:Class HP:0001223 biolink:NamedThing Pointed proximal second through fifth metacarpals All of the metacarpal bones of the hand have a pointed proximal appearance. hp0009lx5z UMLS:C1854787 human_phenotype owl:Class HP:0006119 biolink:NamedThing Proximal tapering of metacarpals Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. hp0009lx5z Pointed proximal metacarpals|Pointed innermost long bone of hand UMLS:C1854749 human_phenotype owl:Class HP:0008753 biolink:NamedThing Aplasia of the epiglottis Absence of the epiglottis. hp0009lx5z Absent epiglottis UMLS:C4024628 human_phenotype owl:Class HP:0010565 biolink:NamedThing Aplasia/Hypoplasia of the Epiglottis This term applies if the Epiglottis is absent or hypoplastic. hp0009lx5z sandra1 2009-10-16T02:27:31Z UMLS:C4023790 human_phenotype owl:Class HP:0009345 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 3rd finger A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. hp0009lx5z Triangular end part of the outermost long bone of the middle finger|Delta-shaped epiphysis of the distal phalanx of the 3rd finger doelkens 2009-01-12T11:18:33Z UMLS:C4021489 human_phenotype owl:Class HP:0006262 biolink:NamedThing Aplasia/Hypoplasia of the 5th finger A small/hypoplastic or absent/aplastic 5th finger. hp0009lx5z Absent/small little finger|Absent/underdeveloped pinkie finger|Absent/underdeveloped little finger|Absent/small pinky finger|Absent/small pinkie finger|Absent/underdeveloped pinky finger peter 2008-03-28T02:59:00Z UMLS:C4025074 human_phenotype owl:Class HP:0004207 biolink:NamedThing Abnormal 5th finger morphology An abnormality affecting one or both 5th fingers. hp0009lx5z Abnormality of the pinkie finger|Abnormality of the 5th finger|Abnormality of the pinky finger|Abnormality of the little finger UMLS:C4021678 human_phenotype owl:Class HP:0010938 biolink:NamedThing Abnormality of the external nose An abnormality of the external nose. hp0009lx5z Malformation of the external nose|Abnormality of the external nose|Anomaly of the external nose|Deformity of the external nose peter 2011-01-16T02:21:10Z UMLS:C2164724|UMLS:C4023638|UMLS:C4280360 human_phenotype owl:Class HP:0100611 biolink:NamedThing Multiple glomerular cysts The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. hp0009lx5z Glomerulocystic kidney disease Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term glomerulocystic kidney refers to a kidney with greater than 5% cystic glomeruli. doelkens 2010-12-28T10:23:07Z UMLS:C4020705|UMLS:C4022013 human_phenotype owl:Class HP:0012677 biolink:NamedThing Iron accumulation in globus pallidus An abnormal build up of iron (Fe) in the globus pallidus. hp0009lx5z hecht 2014-03-13T07:29:37Z UMLS:C4022786 human_phenotype owl:Class HP:0002453 biolink:NamedThing Abnormal globus pallidus morphology An abnormality of the globus pallidus. hp0009lx5z The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule. HP:0007040 UMLS:C4025706 human_phenotype owl:Class HP:0002216 biolink:NamedThing Premature graying of hair Development of gray hair at a younger than normal age. hp0009lx5z Early graying|Premature graying of hair|Premature graying of the hair|Premature graying|Premature greying|Premature hair graying|Premature hair greying|Premature greying of hair|Early greying|Premature greying of the hair UMLS:C0263498|SNOMEDCT_US:387833009 owl:Class HP:0009887 biolink:NamedThing Abnormality of hair pigmentation An abnormality of hair pigmentation (color). hp0009lx5z Abnormality of hair colour|Abnormality of hair color|Abnormality of hair pigmentation peter 2009-04-30T06:00:53Z UMLS:C4024172 human_phenotype owl:Class HP:0031057 biolink:NamedThing Skin fissure A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis. hp0009lx5z Cracked skin 2017-05-27 17:57:13+00:00 peter owl:Class HP:0010325 biolink:NamedThing Aplasia/Hypoplasia of the 2nd toe hp0009lx5z Absent/small 2nd toe|Absent/underdeveloped 2nd toe doelkens 2009-07-16T11:40:18Z UMLS:C4023902 human_phenotype owl:Class HP:0010319 biolink:NamedThing Abnormality of the 2nd toe An anomaly of the second toe. hp0009lx5z doelkens 2009-07-16T11:37:12Z UMLS:C4023908 human_phenotype owl:Class HP:0005928 biolink:NamedThing Synostosis involving the fibula hp0009lx5z Bone fusion involving the calf bones peter 2008-03-27T02:34:00Z UMLS:C4025104 human_phenotype owl:Class HP:0006127 biolink:NamedThing Long proximal phalanx of finger Increased length of the proximal phalanx of finger. hp0009lx5z Long innermost finger bone UMLS:C4025090 human_phenotype owl:Class HP:0001084 biolink:NamedThing Corneal arcus A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. hp0009lx5z Anterior embryotoxon|Arcus lipoidis|Arcus senilis|Gerontoxon|Arcus juvenilis|Corneal annulus A grey opaque line which surrounds the margin of the cornea caused by lipid deposits. HP:0100741 SNOMEDCT_US:231924000|UMLS:C0339268|UMLS:C0003742|MSH:D001112|SNOMEDCT_US:231925004|SNOMEDCT_US:111522004 human_phenotype owl:Class HP:0008011 biolink:NamedThing Peripheral opacification of the cornea Reduced transparency of the peripheral region of the cornea. hp0009lx5z Peripheral corneal opacity SNOMEDCT_US:55713007|UMLS:C0155100 human_phenotype owl:Class HP:0007081 biolink:NamedThing Late-onset muscular dystrophy hp0009lx5z UMLS:C4024942 human_phenotype owl:Class HP:0003560 biolink:NamedThing Muscular dystrophy The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. hp0009lx5z Muscle biopsy shows dystrophic changes Muscular dystrophy can be demonstrated by muscle biopsy. HP:0003544|HP:0003806 MSH:D009136|SNOMEDCT_US:73297009|UMLS:C1864711|SNOMEDCT_US:193225000|UMLS:C0026850 human_phenotype owl:Class HP:0008631 biolink:NamedThing Ureteral dysgenesis A developmental anomaly of the ureter. hp0009lx5z If possible, a more specific term describing the precise type of ureteral dysgenesis should be chosen. UMLS:C4024653 owl:Class HP:0025633 biolink:NamedThing Abnormal ureter morphology A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. hp0009lx5z 2019-04-26 17:40:47+00:00 HPO:probinson owl:Class HP:0000542 biolink:NamedThing Impaired ocular adduction Reduced ability to move the eye in the direction of the nose. hp0009lx5z Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement). UMLS:C1846463 human_phenotype owl:Class HP:0031744 biolink:NamedThing Superior rectus muscle weakness Decreased strength of the superior rectus muscle. hp0009lx5z 2018-01-21 14:10:55+00:00 peter owl:Class HP:0025603 biolink:NamedThing Abnormal superior rectus muscle physiology A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe. hp0009lx5z 2018-01-13 22:28:02+00:00 HPO:probinson owl:Class HP:0001917 biolink:NamedThing Renal amyloidosis A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). hp0009lx5z In the kidney, amyloid deposits may be found in any of the parenchymal compartments, including glomeruli, tubules, interstitium and/or vessels. Glomeruli are most commonly involved. In most instances, amyloid accumulation involves the mesangium before the capillary walls. In early cases, the process can be subtle and involves only a few mesangial regions and therefore can easily be missed by routine histologic evaluation. More extensive involvement results in marked expansion of the mesangium, which can take on a nodular appearance and mimic mesangial sclerotic processes such as diabetic glomerulosclerosis. However, the often negative staining with PAS and JMS is more typical of amyloid. UMLS:C0268382|SNOMEDCT_US:48713002 human_phenotype owl:Class HP:0040154 biolink:NamedThing Acne inversa A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. hp0009lx5z Verneuil's disease|Hidradenitis suppurativa|Smoker's boils|Pyoderma fistulans significa HPO:skoehler MSH:D017497|SNOMEDCT_US:59393003|UMLS:C0162836 owl:Class HP:0001061 biolink:NamedThing Acne A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). hp0009lx5z Acne|Breaking out Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule. HP:0005596 SNOMEDCT_US:11381005|MEDDRA:10000496|UMLS:C0702166 human_phenotype owl:Class HP:0002591 biolink:NamedThing Polyphagia A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. hp0009lx5z Voracious appetite|Hyperphagia|Increased appetite HP:0002042|HP:0000724 SNOMEDCT_US:58424009|UMLS:C0020505|UMLS:C0232461|SNOMEDCT_US:267023007|SNOMEDCT_US:72405004|MSH:D006963 human_phenotype owl:Class HP:0030151 biolink:NamedThing Cholangitis Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. hp0009lx5z Bile duct inflammation Cholangitis is characterized by biliary epithelial damage with inflammatory cell infiltration. Some cholangitis is also associated with ductal and periductal fibrosis. UMLS:C0008311|SNOMEDCT_US:82403002|MSH:D002761 owl:Class HP:0012869 biolink:NamedThing Acephalic spermatozoa Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. hp0009lx5z hecht 2014-06-09T10:57:11Z UMLS:C4022698 human_phenotype owl:Class HP:0012285 biolink:NamedThing Abnormal hypothalamus physiology An abnormal functionality of the hypothalamus. hp0009lx5z The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. peter 2013-04-09T07:51:07Z UMLS:C4022968 owl:Class HP:0041121 biolink:NamedThing Fractured epiphysis of fifth metacarpal bone A partial or complete breakage of the epiphysis of fifth metacarpal bone. hp0009lx5z bone epiphysis of fifth metacarpal bone owl:Class HP:0009189 biolink:NamedThing Fragmentation of the metacarpal epiphyses Fragmented appearance of the epiphyses of the metacarpals. hp0009lx5z Fragmentation of end part of the long bone of hand doelkens 2008-12-30T02:03:34Z UMLS:C4024547 human_phenotype owl:Class HP:0030852 biolink:NamedThing High pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). hp0009lx5z UMLS:C0855323 owl:Class HP:0030850 biolink:NamedThing Abnormal pulse pressure An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. hp0009lx5z UMLS:C0855322 owl:Class HP:0001304 biolink:NamedThing Torsion dystonia Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. hp0009lx5z Dystonia musculorum deformans UMLS:C0013423|SNOMEDCT_US:431034009|SNOMEDCT_US:22451001|MSH:D004422 human_phenotype owl:Class HP:0001332 biolink:NamedThing Dystonia An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. hp0009lx5z Dystonic movements|Dystonic disease HP:0002328 UMLS:C0013421|MSH:D004421|UMLS:C4020871 human_phenotype owl:Class HP:0000280 biolink:NamedThing Coarse facial features Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. hp0009lx5z Coarse facies|Thickened facial skin with coarse facial features|Rounded and heavy facial features|Coarse facial features|Coarse facial appearance|Coarse face HP:0004640|HP:0000281 UMLS:C1845847|UMLS:C4072825 human_phenotype owl:Class HP:0033616 biolink:NamedThing Accessory cardiac bronchus Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended. hp0009lx5z 2021-01-30 22:33:01+00:00 peter owl:Class HP:0010432 biolink:NamedThing Absent distal phalanx of the 2nd toe Absence of distal phalanx of the second toe as a result of developmental aplasia. hp0009lx5z Aplasia of the distal phalanx of the 2nd toe|Absent outermost bone of the 2nd toe|Absent distal phalanx of the second toe doelkens 2009-07-16T04:28:07Z UMLS:C4021268 human_phenotype owl:Class HP:0010413 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 2nd toe hp0009lx5z Absent/small outermost 2nd toe bone|Absent/underdeveloped outermost 2nd toe bone doelkens 2009-07-16T12:44:41Z UMLS:C4023843 human_phenotype owl:Class HP:0009148 biolink:NamedThing Small epiphysis of the distal phalanx of the 5th finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. hp0009lx5z Small end part of the outermost bone of pinkie finger|Small end part of the outermost bone of pinky finger|Small end part of the outermost bone of little finger peter 2008-12-22T01:40:08Z UMLS:C4024571 human_phenotype owl:Class HP:0009170 biolink:NamedThing Osteolytic defects of the middle phalanx of the 5th finger Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger. hp0009lx5z peter 2008-12-29T02:51:32Z UMLS:C4024559 human_phenotype owl:Class HP:0100915 biolink:NamedThing Sclerosis of distal finger phalanx An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Sclerosis of the distal phalanges of the hand|Increased bone density in outermost finger bone UMLS:C4020940 human_phenotype owl:Class HP:0100899 biolink:NamedThing Sclerosis of finger phalanx An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Sclerosis of the phalanges of the hand|Increased bone density in the finger bone doelkens 2011-12-02T09:34:05Z UMLS:C4020941 human_phenotype owl:Class HP:0011577 biolink:NamedThing Partial atrioventricular canal defect A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. hp0009lx5z peter 2012-04-08T10:57:14Z UMLS:C4023290|SNOMEDCT_US:718216009 human_phenotype owl:Class HP:0006695 biolink:NamedThing Atrioventricular canal defect A defect of the atrioventricular septum of the heart. hp0009lx5z Atrioventricular septal defect|Endocardial cushion defect|Hole in center of heart|Hole in centre of heart During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. HP:0005139|HP:0005298|HP:0010439 Fyler:606|SNOMEDCT_US:15459006|UMLS:C1389016|UMLS:C0014116|MSH:C562831|Fyler:0606|Fyler:1100|MSH:D004694 human_phenotype owl:Class HP:0100634 biolink:NamedThing Neuroendocrine neoplasm A tumor that originates from a neuroendocrine cell. hp0009lx5z Neuroendocrine neoplasia Neuroendocrine tumors are often diagnosed incidentally or when patients present with symptoms related to hormone production and/or tumor burden. doelkens 2010-12-29T05:12:37Z UMLS:C0206754|MSH:D018358|SNOMEDCT_US:255046005|SNOMEDCT_US:128928004 owl:Class HP:0100007 biolink:NamedThing Neoplasm of the peripheral nervous system A benign or malignant neoplasm (tumour) of the peripheral nervous system. hp0009lx5z Tumour of the peripheral nervous system|Tumor of the peripheral nervous system doelkens 2010-05-14T09:11:53Z UMLS:C0031118|SNOMEDCT_US:126980002|NCIT:C3262|MSH:D010524 human_phenotype owl:Class HP:0002227 biolink:NamedThing White eyelashes White color (lack of pigmentation) of the eyelashes. hp0009lx5z White eyelashes|Pale eyelashes|Depigmented eyelashes|Blonde eyelashes|Grey eyelashes UMLS:C1836736|UMLS:C4280578 owl:Class HP:0030161 biolink:NamedThing Vaginal pruritus A sensation of itching in the vagina. hp0009lx5z UMLS:C0042256|SNOMEDCT_US:34363003 owl:Class HP:0001747 biolink:NamedThing Accessory spleen An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. hp0009lx5z UMLS:C0266631|SNOMEDCT_US:10362008|Fyler:4772 human_phenotype owl:Class HP:0009799 biolink:NamedThing Supernumerary spleens The presence of two or more accessory spleens. hp0009lx5z Extra spleen peter 2009-02-11T05:44:01Z UMLS:C0266631|SNOMEDCT_US:10362008 human_phenotype owl:Class HP:0040089 biolink:NamedThing Abnormal natural killer cell count Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes. hp0009lx5z Abnormal NK cell count|Abnormal number of natural killer cells|Abnormal natural killer cell count|Abnormality of natural killer cell count In human peripheral blood, five NK cell subpopulations can be defined on the basis of the relative expression of the markers CD16 and CD56: (1) CD56bright CD16- (50-70% of CD56bright), (2) CD56bright CD16dim (30-50% of CD56bright), (3) CD56dim CD16-, (4) CD56dim CD16bright, and (5) CD56- CD16bright. In healthy individuals, populations (3) and (5) are numerically in the minority. HPO:skoehler UMLS:C4021036 owl:Class HP:0031463 biolink:NamedThing Esophageal squamous papilloma A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia. hp0009lx5z 2017-09-17 16:18:41+00:00 peter owl:Class HP:0100751 biolink:NamedThing Esophageal neoplasm A tumor (abnormal growth of tissue) of the esophagus. hp0009lx5z Esophageal tumor|Esophageal tumour doelkens 2011-06-06T06:44:54Z SNOMEDCT_US:126817006|UMLS:C0014859|MSH:D004938|NCIT:C3262 human_phenotype owl:Class HP:0006323 biolink:NamedThing Premature loss of primary teeth Loss of the primary (also known as deciduous) teeth before the usual age. hp0009lx5z Premature loss of baby teeth|Early loss of primary teeth|Premature exfoliation of deciduous teeth|Early loss of deciduous teeth|Premature deciduous tooth loss|Premature exfoliation of primary teeth|Early loss of baby teeth|Premature loss of deciduous teeth The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth. HP:0006319|HP:0006351 SNOMEDCT_US:39034005|SNOMEDCT_US:122483006|UMLS:C0266052 human_phenotype owl:Class HP:0006480 biolink:NamedThing Premature loss of teeth Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. hp0009lx5z Premature tooth loss|Premature exfoliation of teeth|Loss of teeth|Early tooth loss|Premature teeth loss peter 2008-03-28T05:03:00Z HP:0001564|HP:0000701|HP:0006343 SNOMEDCT_US:234974002|UMLS:C0232513|UMLS:C0399385|SNOMEDCT_US:42756003 owl:Class HP:0001258 biolink:NamedThing Spastic paraplegia Spasticity and weakness of the leg and hip muscles. hp0009lx5z Spastic paraplegia, lower limb This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies. HP:0007124|HP:0007216|HP:0007062 MSH:D010264|UMLS:C0037772|SNOMEDCT_US:192967009 human_phenotype owl:Class HP:0010550 biolink:NamedThing Paraplegia Severe or complete weakness of both lower extremities with sparing of the upper extremities. hp0009lx5z Leg paralysis peter 2009-10-01T08:32:57Z SNOMEDCT_US:60389000|UMLS:C0030486|MSH:D010264 human_phenotype owl:Class HP:0011823 biolink:NamedThing Chin with horizontal crease Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. hp0009lx5z Horizontal menton crease|Chin with horizontal groove|Chin with horizontal sulcus|Chin with horizontal furrow|Chin with horizontal crease|Horizontal chin skin cleft peter 2012-04-30T08:33:02Z UMLS:C4023171 human_phenotype owl:Class HP:0004347 biolink:NamedThing Weakness of muscles of respiration Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. hp0009lx5z peter 2008-03-11T08:03:00Z UMLS:C4025347 human_phenotype owl:Class HP:0011824 biolink:NamedThing Chin with H-shaped crease H-shaped crease in the fat pad of the chin. hp0009lx5z Chin, H-Shaped Crease|Chin, H-shaped groove|Chin with H-shaped crease|H-shaped dimple of the chin The H-shape must be distinguished from Vertical crease of the chin. peter 2012-04-30T08:34:24Z UMLS:C1860309 human_phenotype owl:Class HP:0004607 biolink:NamedThing Anterior beaking of lower thoracic vertebrae Anterior tongue-like protrusions of the lower thoracic vertebral bodies. hp0009lx5z UMLS:C4025306 human_phenotype owl:Class HP:0004568 biolink:NamedThing Beaking of vertebral bodies Anterior tongue-like protrusions of the vertebral bodies. hp0009lx5z Anterior beaking of vertebrae|anterior beaking|Vertebral tongue-like protrusion|Beaked vertebral bodies|Anterior beaking of vertebral bodies HP:0003315|HP:0005122|HP:0003313|HP:0004584|HP:0004569|HP:0004577 UMLS:C1856599|SNOMEDCT_US:19888007|UMLS:C0264112 human_phenotype owl:Class HP:0005225 biolink:NamedThing Intestinal edema Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. hp0009lx5z Intestinal oedema This finding can be observed upon abdominal radiography. The bowel lumen may be slightly dilated. Secondary to the fluid accumulation, there are anatomic and motor alterations in the intestine which are reflected in the roentgenogram. UMLS:C1142262 human_phenotype owl:Class HP:0008111 biolink:NamedThing Broad distal hallux hp0009lx5z Broad distal big toe UMLS:C1863403 human_phenotype owl:Class HP:0010055 biolink:NamedThing Broad hallux Visible increase in width of the hallux without an increase in the dorso-ventral dimension. hp0009lx5z Wide big toe|Broad big toe|Broad great toe|Broad great toes|Abnormally broad great toes|Broad halluces Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short. doelkens 2009-05-29T11:56:24Z HP:0005883|HP:0003094|HP:0001834|HP:0004710 UMLS:C1867131 human_phenotype owl:Class HP:0030843 biolink:NamedThing Cardiac amyloidosis Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. hp0009lx5z Amyloid cardiomyopathy The diagnosis of amyloidosis requires histological identification of amyloid deposits. Congo Red staining renders amyloid deposits salmon pink by light microscopy, with a characteristic apple green birefringence under polarized light conditions. Additional immunohistochemical staining for precursor proteins identifies the type of amyloidosis. HP:0200126 UMLS:C0268407|SNOMEDCT_US:16573007 owl:Class HP:0004249 biolink:NamedThing Accessory lunate hp0009lx5z UMLS:C4025392 human_phenotype owl:Class HP:0010370 biolink:NamedThing Abnormality of the proximal phalanx of the 3rd toe An anomaly of the proximal phalanx of third toe. hp0009lx5z Abnormality of the innermost bone of 3rd toe doelkens 2009-07-16T11:51:17Z UMLS:C4023876 human_phenotype owl:Class HP:0032453 biolink:NamedThing Abnormal lip pigmentation Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal. hp0009lx5z 2019-03-08 11:06:30+00:00 peter owl:Class HP:0008789 biolink:NamedThing Cone-shaped capital femoral epiphysis A cone-shaped deformity of the proximal epiphysis of the femur. hp0009lx5z Cone-shaped end part of innermost thighbone UMLS:C1846157 human_phenotype owl:Class HP:0010579 biolink:NamedThing Cone-shaped epiphysis Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. hp0009lx5z Cone-shaped end part of bone|Cone-shaped epiphyses sandra1 2009-10-22T02:53:19Z HP:0006078|HP:0000937 UMLS:C1865037 human_phenotype owl:Class HP:0031976 biolink:NamedThing Increased vertical cup-to-disc ratio - 0.8 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). hp0009lx5z 2018-07-08 00:15:07+00:00 peter owl:Class HP:0031913 biolink:NamedThing Rhombencephalosynapsis Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis. hp0009lx5z 2018-06-23 17:46:39+00:00 Rhombencephalosynapsis occurs in isolation or in combination with other CNS and extra-CNS malformations. The most common congenital anomaly syndrome associated with RES is Gomez-Lopez-Hernandez syndrome. peter owl:Class HP:0010198 biolink:NamedThing Osteolytic defects of the middle phalanges of the toes hp0009lx5z doelkens 2009-05-29T01:53:35Z UMLS:C4023974 human_phenotype owl:Class HP:0010177 biolink:NamedThing Osteolytic defects of the phalanges of the toes hp0009lx5z doelkens 2009-05-29T01:39:26Z UMLS:C4023985 human_phenotype owl:Class HP:0033645 biolink:NamedThing Midline brainstem cleft A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons. hp0009lx5z 2021-02-24 12:43:08+00:00 peter owl:Class HP:0002363 biolink:NamedThing Abnormal brainstem morphology An anomaly of the brainstem. hp0009lx5z Abnormal shape of brainstem|Abnormality of the brainstem|Abnormality of brainstem morphology UMLS:C1850601 owl:Class HP:0000541 biolink:NamedThing Retinal detachment Separation of the inner layers of the retina (neural retina) from the pigment epithelium. hp0009lx5z Detached retina|Retinal detachment HP:0007864|HP:0008021 UMLS:C0035305|SNOMEDCT_US:42059000|MSH:D012163 human_phenotype owl:Class HP:0009756 biolink:NamedThing Popliteal pterygium A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). hp0009lx5z peter 2009-01-31T08:54:18Z UMLS:C3805420 human_phenotype owl:Class HP:0001059 biolink:NamedThing Pterygium Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. hp0009lx5z Surfer's eye|Pterygia UMLS:C0033999|MSH:D011625|SNOMEDCT_US:77489003 human_phenotype owl:Class HP:0009499 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 2nd finger hp0009lx5z Abnormality of the end part of the outermost bone of the index finger|Epiphyseal abnormality of terminal index finger phalanx doelkens 2009-01-16T01:08:35Z HP:0004146 UMLS:C4021464 human_phenotype owl:Class HP:0200143 biolink:NamedThing Megaloblastic erythroid hyperplasia hp0009lx5z Bone marrow biopsy shows megaloblastic erythroid hyperplasia sebastiankohler 2013-06-13T12:44:34Z UMLS:C1850020|UMLS:C1334688 human_phenotype owl:Class HP:0040247 biolink:NamedThing Reduced euglobulin clot lysis time Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. hp0009lx5z This term has been requested and created by members of the BRIDGE consortium UMLS:C4280701 owl:Class HP:0030202 biolink:NamedThing Favorable response of weakness to acetylcholine esterase inhibitors Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. hp0009lx5z Favourable response of weakness to acetylcholine esterase inhibitors An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis. UMLS:C4022581 owl:Class HP:0030201 biolink:NamedThing Response to drugs acting on neuromuscular transmission Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis. hp0009lx5z UMLS:C4022582 owl:Class HP:0006709 biolink:NamedThing Aplasia/Hypoplasia of the nipples hp0009lx5z Absent/small nipples|Absent/underdeveloped nipples|Nipples absent or rudimentary|Absent/rudimentary nipples peter 2008-03-29T03:51:00Z HP:0006669|HP:0006602 UMLS:C3150086 human_phenotype owl:Class HP:0004404 biolink:NamedThing Abnormal nipple morphology An abnormality of the nipple. hp0009lx5z Abnormality of the nipple peter 2008-03-18T09:18:00Z SNOMEDCT_US:700153004|UMLS:C3839073 human_phenotype owl:Class HP:0100114 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 2nd toe hp0009lx5z Enlarged end part of the middle bone of the 2nd toe doelkens 2010-06-24T10:05:37Z UMLS:C4022307 human_phenotype owl:Class HP:0100047 biolink:NamedThing Enlarged epiphyses of the 2nd toe hp0009lx5z Enlarged end part of the 2nd toe bone doelkens 2010-06-24T09:58:18Z UMLS:C4022374 human_phenotype owl:Class HP:0040249 biolink:NamedThing Reduced plasminogen activator inhibitor 1 antigen Reduced level of plasminogen activator inhibitor 1 antigen. hp0009lx5z Added the antigen level as diagnosis with only activity levels is very difficult due to assay problems. Activity levels of control patients also include 0 within the normal limit. This term has been requested and created by members of the BRIDGE consortium UMLS:C4280699 owl:Class HP:0040239 biolink:NamedThing Increased plasma vitamin K epoxide after vitamin K supplementation Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1. hp0009lx5z This term has been requested and created by members of the BRIDGE consortium UMLS:C4280708 owl:Class HP:0031321 biolink:NamedThing Myocardial immune cell infiltration An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium). hp0009lx5z 2017-08-27 12:06:55+00:00 peter owl:Class HP:0001730 biolink:NamedThing Progressive hearing impairment A progressive form of hearing impairment. hp0009lx5z Progressive hearing loss HP:0008590 UMLS:C1842138 human_phenotype owl:Class HP:0011084 biolink:NamedThing Hypocalcification of dental enamel A form of hypomineralization of enamel characterized by reduced calcification. hp0009lx5z Poorly calcified tooth enamel|Decreased enamel calcification peter 2011-03-11T12:08:46Z UMLS:C4023541 human_phenotype owl:Class HP:0006285 biolink:NamedThing Enamel hypomineralization A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. hp0009lx5z Mottled tooth enamel|White spot lesions of tooth enamel|Fluorosis of tooth enamel|Decreased enamel mineralisation|Poorly mineralized tooth enamel|Hypomineralization of enamel|Increased porosity of tooth enamel Enamel hypomineralization can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. It may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypomineralization is a qualitative defect of enamel, in which the enamel can be rough and softer. Affected teeth may be sensitive. Enamel hypomineralization can be part of molar incisor hypomineralization (hypomineralisation of systemic origin of one to four permanent first molars, frequently associated with affected incisors) and of hypomineralized second primary molars (or deciduous molar hypomineralisation, which indicates idiopathic hypomineralization of one to four second deciduous molars). HP:0006359 UMLS:C4280461|UMLS:C4280253|UMLS:C4280460|UMLS:C3665628|SNOMEDCT_US:109487003 owl:Class HP:3000077 biolink:NamedThing Abnormal mandible condylar process morphology An abnormality of a mandible condylar process. hp0009lx5z Abnormality of mandible condylar process vasilevs 2015-08-07T03:39:19Z UMLS:C4073284 human_phenotype owl:Class HP:0010909 biolink:NamedThing Abnormal circulating arginine concentration Any deviation from the normal concentration of arginine in the blood circulation. hp0009lx5z Abnormality of arginine metabolism Arginine is a charged, aliphatic amino acid. peter 2010-12-08T08:25:05Z UMLS:C4023659 human_phenotype owl:Class HP:0033179 biolink:NamedThing Elevated circulating aconitic acid concentration An increased concentration of aconitic acid in the blood circulation. hp0009lx5z 2020-09-28 22:12:56+00:00 peter owl:Class HP:0012312 biolink:NamedThing Monocytopenia An decreased number of circulating monocytes. hp0009lx5z Low blood monocyte number peter 2013-08-10T12:10:07Z SNOMEDCT_US:165539005|UMLS:C0427544 human_phenotype owl:Class HP:0012310 biolink:NamedThing Abnormal monocyte count An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. hp0009lx5z Abnormal monocyte number peter 2013-08-10T12:07:14Z SNOMEDCT_US:165541006|UMLS:C0580319|SNOMEDCT_US:165540007 human_phenotype owl:Class HP:0004755 biolink:NamedThing Supraventricular tachycardia Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. hp0009lx5z Supraventricular tachyarrhythmia|SVT A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular. MSH:D013617|SNOMEDCT_US:6456007|UMLS:C1698480|UMLS:C0039240 human_phenotype owl:Class HP:0012222 biolink:NamedThing Arachnoid hemangiomatosis The presence of multiple hemangiomas in the arachnoid. hp0009lx5z peter 2013-03-30T07:17:01Z UMLS:C4022998 human_phenotype owl:Class HP:0033840 biolink:NamedThing Postmenopausal bleeding Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy. hp0009lx5z 2021-05-30 15:51:38+00:00 peter owl:Class HP:0030012 biolink:NamedThing Abnormal female reproductive system physiology hp0009lx5z Abnormal female reproductive system physiology|Abnormal female genital system physiology UMLS:C4020714|UMLS:C4022678 owl:Class HP:0100958 biolink:NamedThing Narrow foramen obturatorium Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis. hp0009lx5z doelkens 2012-01-18T05:17:14Z UMLS:C4021910 human_phenotype owl:Class HP:0003174 biolink:NamedThing Abnormality of the ischium An anomaly of the ischium, which forms the lower and back part of the hip bone. hp0009lx5z Abnormality of the ischial bones|Anomaly of the ischium The ischium, together with the ilium and the pubis, forms the hip bone (os coxae). SNOMEDCT_US:93008005|UMLS:C0685661 human_phenotype owl:Class HP:0030902 biolink:NamedThing Palmomental reflex A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm. hp0009lx5z The palmomental reflex is often present in normal people and may be absent in disease states. Testing merely for the presence or absence of the reflex therefore lacks both specificity and sensitivity. A strong, sustained, and easily repeatable contraction of the mentalis muscle, which can be elicited by stimulation of areas other than the palm, is more likely to indicate cerebral damage. owl:Class HP:0011915 biolink:NamedThing Cardiovascular calcification Abnormal calcification in the cardiovascular system. hp0009lx5z peter 2012-06-05T10:35:58Z UMLS:C4023128 owl:Class HP:0012532 biolink:NamedThing Chronic pain Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. hp0009lx5z Chronic pain|Long-lasting pain Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. peter 2013-12-15T09:46:55Z MSH:D059350|SNOMEDCT_US:82423001|UMLS:C0150055 human_phenotype owl:Class HP:0004809 biolink:NamedThing Neonatal alloimmune thrombocytopenia Low platelet count associated with maternal platelet-specific alloantibodies. hp0009lx5z Neonatal alloimmune thrombocytopenia occurs following fetomaternal transfusions leading to generation of alloreactive antiplatelet antibodies. MSH:D054098|UMLS:C3853779|SNOMEDCT_US:240305000 human_phenotype owl:Class HP:0041087 biolink:NamedThing Compression-fractured lumbar vertebra A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. hp0009lx5z Wedge fractured lumbar vertebra|Compression fractured lumbar vertebra owl:Class HP:0030388 biolink:NamedThing Decreased proportion of class-switched memory B cells A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. hp0009lx5z Decreased proportion of CD19+CD27+IgD- cells UMLS:C4072925 owl:Class HP:0030374 biolink:NamedThing Decreased proportion of memory B cells A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). hp0009lx5z UMLS:C4072913 owl:Class HP:0045008 biolink:NamedThing Abnormal shape of the radius hp0009lx5z HPO:skoehler UMLS:C4022402 owl:Class HP:0032409 biolink:NamedThing Subcortical band heterotopia A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum. hp0009lx5z 2019-02-24 21:08:16+00:00 peter owl:Class HP:0033693 biolink:NamedThing Phantosmia Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor. hp0009lx5z Phantom odour|Phantom smell|Phantom odor|Olfactory hallucination 2021-03-07 22:57:41+00:00 Phantosmia has been documented in individuals with epileptic seizures, schizophrenia, depression, migraine, and otorhinolaryngology problems. Phantosmia occurs in a variety of clinical conditions, and its causes are yet unknown. Prior accounts have suggested that the phantosmic sensations originate either in the peripheral olfactory nervous system or in central brain regions, such as the amygdala and the orbital frontal cortex. Patients who experienced phantosmia following head trauma were characterized by left frontal atrophy, suggestive of a cortical origin. However, a patient study reported successfully resolving phantosmia in 7 out of 8 patients through excision of the olfactory epithelium, suggesting also peripheral olfactory system involvement. peter owl:Class HP:0031394 biolink:NamedThing Abnormal CD4:CD8 ratio Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. hp0009lx5z 2017-09-02 17:06:44+00:00 CD4 helper/inducer cells and CD8 cytotoxic/suppressor cells are 2 phenotypes of T lymphocytes, characterized by distinct surface markers and functions that mostly reside in lymph nodes but also circulate in the blood. The normal CD4/CD8 ratio in healthy hosts is poorly defined. Ratios between 1.5 and 2.5 are generally considered normal; however, a wide heterogeneity exists because sex, age, ethnicity, genetics, exposures, and infections may all impact the ratio. peter owl:Class HP:0011658 biolink:NamedThing Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. hp0009lx5z Taussig-Bing anomaly|DORV with subpulmonary VSD without pulmonary stenosis peter 2012-04-09T10:07:31Z UMLS:C4023241 human_phenotype owl:Class HP:0031629 biolink:NamedThing Impaired tandem gait Reduced ability to walk in a straight line while placing the feet heel to toe. hp0009lx5z Clumsy tandem walking 2017-12-17 00:38:29+00:00 peter owl:Class HP:0001288 biolink:NamedThing Gait disturbance The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. hp0009lx5z Gait difficulties|Impaired gait|Abnormal walk|Gait disturbances|Gait abnormalities|Abnormal gait If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. HP:0006953 UMLS:C0575081|SNOMEDCT_US:22325002 human_phenotype owl:Class HP:0030432 biolink:NamedThing Chondroblastoma A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. hp0009lx5z Chondroblastomas of bone are rare benign bone tumours, arising at the cartilaginous growth plate, representing approximately 1-2% of all bone tumors. The most common sites are the proximal humerus and the proximal tibia, but the third most common site is the proximal femur. Histologically, the tumour consists predominantly of well-defined polygonal chondroblast-type cells similar to epiphyseal chondrocytes, with large nucleoli and benign-looking nuclei that have a tendency to be multilobulate and have a continuous dense band of substance along the inner nuclear membrane, intra-cytoplasmic inclusions of glycogen and lipids, numerous mitochondria and superficial secretion vesicles arising from a well developed rough endoplasmic reticulum. There are multi-nucleated giant cells, foci of chondroid matrix, with focal calcification that may acquire a "chicken wire" appearance. Aneurysmal bone cysts are associated with chondroblastoma in 14% of cases. MSH:D002804|UMLS:C0008441|SNOMEDCT_US:9001003 owl:Class HP:0000657 biolink:NamedThing Oculomotor apraxia Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. hp0009lx5z Ocular motor apraxia|Defective or absent horizontal voluntary eye movements Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. HP:0000628|HP:0007764 UMLS:C3489733|SNOMEDCT_US:193662007|MSH:C537423|UMLS:C4020886 owl:Class HP:0002186 biolink:NamedThing Apraxia A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. hp0009lx5z Apraxias MSH:D001072|SNOMEDCT_US:6950007|UMLS:C0003635|SNOMEDCT_US:68345001 owl:Class HP:0030228 biolink:NamedThing Abnormal muscle fiber valosin-containing protein A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family. hp0009lx5z Abnormal muscle fibre valosin-containing protein UMLS:C4022570 owl:Class HP:0030089 biolink:NamedThing Abnormal muscle fiber protein expression An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue. hp0009lx5z Abnormal muscle fibre protein expression UMLS:C4022653 owl:Class HP:0002617 biolink:NamedThing Vascular dilatation Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. hp0009lx5z Wider than typical opening or gap|Aneurysms|Aneurysmal dilatation|Aneurysm|Aneurysmal disease Aneurysm is considered a severe form of dilatation. SNOMEDCT_US:85659009|Fyler:2399|SNOMEDCT_US:432119003|MSH:D000783|UMLS:C4020848|UMLS:C0002940 owl:Class HP:0000803 biolink:NamedThing Renal cortical cysts Cysts of the cortex of the kidney. hp0009lx5z Cortical cysts UMLS:C1969144 human_phenotype owl:Class HP:0000107 biolink:NamedThing Renal cyst A fluid filled sac in the kidney. hp0009lx5z Cystic kidney disease|Kidney cyst|Cystic kidneys|Renal cysts HP:0000109|HP:0000088 UMLS:C0022679|UMLS:C3887499|MSH:D052177 human_phenotype owl:Class HP:0002478 biolink:NamedThing Progressive spastic quadriplegia hp0009lx5z Progressive spastic quadriparesis UMLS:C1859736 human_phenotype owl:Class HP:0002191 biolink:NamedThing Progressive spasticity Spasticity that increases in degree with time. hp0009lx5z Spasticity, progressive UMLS:C1859520 human_phenotype owl:Class HP:0011947 biolink:NamedThing Respiratory tract infection An infection of the upper or lower respiratory tract. hp0009lx5z Respiratory tract infection|Respiratory infection|Respiratory infections peter 2012-06-21T08:26:36Z MSH:D012141|SNOMEDCT_US:275498002|UMLS:C0035243 owl:Class HP:0010755 biolink:NamedThing Asymmetry of the maxilla Asymmetry between the left and right sides of the maxilla. hp0009lx5z Uneven maxilla|Unequal sides of maxilla|Tilted maxilla|Crooked maxilla|Asymmetry of right and left side of the maxilla|Asymmetry of the upper jaw|Deviation of the maxilla|Uneven upper jaw|Canted upper jaw|Canted maxilla|Asymmetry of upper jaw|Tilted upper jaw|Deviation of the upper jaw|Crooked upper jaw sdoelken 2010-04-23T10:38:44Z SNOMEDCT_US:235083001|UMLS:C0399519 human_phenotype owl:Class HP:0012307 biolink:NamedThing Spatulate ribs Ribs that are increased in width and taper to the posterior ends. hp0009lx5z This morphological anomaly of the rib has been compared to a canoe panel or a spatula, whence the name. peter 2013-08-10T10:15:15Z UMLS:C1856637 human_phenotype owl:Class HP:0000885 biolink:NamedThing Broad ribs Increased width of ribs hp0009lx5z Wide ribs|Broad ribs HP:0000950|HP:0006667|HP:0000903 UMLS:C1848654 human_phenotype owl:Class HP:0005853 biolink:NamedThing Congenital foot contraction deformities hp0009lx5z UMLS:C4025123 human_phenotype owl:Class HP:0002803 biolink:NamedThing Congenital contracture One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. hp0009lx5z Congenital joint contractures|congenital contractures UMLS:C0332878 human_phenotype owl:Class HP:0003049 biolink:NamedThing Ulnar deviation of the wrist hp0009lx5z Ulnar deviation of wrists SNOMEDCT_US:43689004|UMLS:C0231678 human_phenotype owl:Class HP:0033521 biolink:NamedThing Nasal dryness A lack of humidification of the nasal mucosa. hp0009lx5z 2021-01-14 12:33:47+00:00 A dry nose can be associated with multiple causes, for example an underlying disease, medication or age-related changes in nasal physiology and structure. peter owl:Class HP:0000720 biolink:NamedThing Mood swings An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels. hp0009lx5z Mood swings SNOMEDCT_US:18963009|UMLS:C0085633 human_phenotype owl:Class HP:0100851 biolink:NamedThing Abnormal emotion/affect behavior An abnormality of emotional behaviour. hp0009lx5z Abnormal emotion/affect behaviour doelkens 2011-06-23T11:07:13Z UMLS:C4020949 owl:Class HP:0032604 biolink:NamedThing Renal tubular epithelial cell mitosis Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. hp0009lx5z peter owl:Class HP:0007677 biolink:NamedThing Vitelliform-like macular lesions Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula. hp0009lx5z Vitelliform macular dystrophy|Vitelliform macular lesions HP:0007878 SNOMEDCT_US:90036004|UMLS:C4024817|MSH:D057826|UMLS:C0339510 human_phenotype owl:Class HP:0032353 biolink:NamedThing Leucinuria Increased level of leucine in urine. hp0009lx5z 2019-02-23 16:51:08+00:00 peter owl:Class HP:0033089 biolink:NamedThing Branched-chain aminoaciduria An increased level of a branched chain family amino acid in the urine. hp0009lx5z peter owl:Class HP:0007291 biolink:NamedThing Posterior fossa cyst A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. hp0009lx5z HP:0006985 UMLS:C1857353 owl:Class HP:0000932 biolink:NamedThing Abnormal posterior cranial fossa morphology An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. hp0009lx5z Posterior fossa anomaly|Abnormality of the posterior cranial fossa|Abnormality of the posterior fossa The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. HP:0007306 UMLS:C3280768 owl:Class HP:0030906 biolink:NamedThing Suck reflex A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched. hp0009lx5z Persistent nutritive suckle swallow owl:Class HP:0011525 biolink:NamedThing Iris nevus A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated. hp0009lx5z Eye freckle peter 2012-04-06T09:11:42Z SNOMEDCT_US:95711003|UMLS:C0346376 human_phenotype owl:Class HP:0032158 biolink:NamedThing Unusual infection by anatomical site An unusual infection classified by the affected body part. hp0009lx5z 2018-12-09 12:17:59+00:00 peter owl:Class HP:0009428 biolink:NamedThing Curved distal phalanx of the 3rd finger Curved appearance of the distal phalanx of the 3rd finger. hp0009lx5z Curved outermost bone of the 3rd finger doelkens 2009-01-14T03:16:46Z UMLS:C4024369 human_phenotype owl:Class HP:0009838 biolink:NamedThing Curved distal phalanges of the hand hp0009lx5z Curved outermost finger bone of the hand doelkens 2009-03-11T12:10:11Z HP:0009862 UMLS:C4024188 human_phenotype owl:Class HP:0011169 biolink:NamedThing Generalized clonic seizure Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. hp0009lx5z Generalized clonic seizures|Generalised onset clonic seizure|Generalised clonic seizure|Generalised-onset clonic seizure|Generalised clonic seizures|Generalized-onset clonic seizure|Generalized onset clonic seizure Generalized clonic seizures are much less common than are tonic-clonic seizures, usually occur in infants, and should be distinguished from jitteriness or shuddering attacks. hecht 2011-11-19T09:53:43Z UMLS:C4023499 human_phenotype owl:Class HP:0001978 biolink:NamedThing Extramedullary hematopoiesis The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. hp0009lx5z Extramedullary erythropoiesis During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. SOme pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis. HP:0004847 SNOMEDCT_US:42952007|UMLS:C1292120|SNOMEDCT_US:124958002|UMLS:C2613439 human_phenotype owl:Class HP:0001871 biolink:NamedThing Abnormality of blood and blood-forming tissues An abnormality of the hematopoietic system. hp0009lx5z Abnormality of the haematopoietic system|Abnormality of blood and blood-forming tissues|Hematological abnormality|Abnormality of the hematopoietic system|Hematologic disease|Haematological abnormality The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. HP:0003135 UMLS:C0850715|UMLS:C0018939|SNOMEDCT_US:191124002|UMLS:C4020864|MSH:D006402|SNOMEDCT_US:34093004 human_phenotype owl:Class HP:0009251 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 4th finger An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the outermost bone of the ring finger doelkens 2009-01-07T12:07:34Z UMLS:C4024496 human_phenotype owl:Class HP:0006561 biolink:NamedThing Lipid accumulation in hepatocytes hp0009lx5z UMLS:C1837257 human_phenotype owl:Class HP:0031137 biolink:NamedThing Storage in hepatocytes Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. hp0009lx5z 2017-06-10 15:30:13+00:00 peter owl:Class HP:0031208 biolink:NamedThing Increased pituitary glycoprotein hormone alpha subunit level An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. hp0009lx5z Increased pituitary glycoprotein polypeptide alpha subunit level|Increased pituitary glycoprotein alpha subunit level 2017-07-02 10:50:16+00:00 peter owl:Class HP:0032481 biolink:NamedThing Abnormal pituitary glycoprotein hormone alpha subunit level Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). hp0009lx5z 2019-04-11 11:31:49+00:00 This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. peter owl:Class HP:0100128 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 2nd toe hp0009lx5z Increased bone density of end part of the innermost bone of the 2nd toe doelkens 2010-06-24T10:06:29Z UMLS:C4022293 human_phenotype owl:Class HP:0100090 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 2nd toe hp0009lx5z Abnormality of the end part of the innermost bone of the 2nd toe doelkens 2010-06-24T10:01:42Z UMLS:C4022331 human_phenotype owl:Class HP:0002087 biolink:NamedThing Abnormality of the upper respiratory tract An abnormality of the upper respiratory tract. hp0009lx5z Upper respiratory tract issues|Abnormality of the upper respiratory tract UMLS:C4025727 owl:Class HP:0100649 biolink:NamedThing Neoplasm of the oral cavity A tumor (abnormal growth of tissue) of the oral cavity. hp0009lx5z Tumour of oral cavity|Lesion of oral cavity|Tumor of oral cavity doelkens 2010-12-29T06:15:14Z SNOMEDCT_US:1071000119107|UMLS:C0026640|SNOMEDCT_US:126797001|MSH:D009062|SNOMEDCT_US:235075007|NCIT:C3262|UMLS:C0149744|UMLS:C4280289 human_phenotype owl:Class HP:0025311 biolink:NamedThing Anterior chamber cyst A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material. hp0009lx5z 2016-12-21 01:32:14+00:00 HPO:probinson owl:Class HP:0500239 biolink:NamedThing Increased CSF albumin concentration hp0009lx5z High albumin levels in cerebrospinal fluid 2019-02-26 15:00:54+00:00 Abnormally increased levels of albumin in cerebrospinal fluid. owl:Class HP:0500238 biolink:NamedThing Abnormal CSF albumin concentration Any deviation from the normal concentration of albumin in the cerebrospinal fluid. hp0009lx5z Abnormal albumin levels in cerebrospinal fluid 2019-02-26 15:00:29+00:00 owl:Class HP:0033813 biolink:NamedThing Perilobular Situated or occurring around a lobe of an organ. hp0009lx5z 2021-05-09 12:03:28+00:00 peter owl:Class HP:0033513 biolink:NamedThing Cocaine addiction Addiction to cocaine. hp0009lx5z Cocaine dependence 2021-01-13 12:21:42+00:00 peter owl:Class HP:0010143 biolink:NamedThing Irregular epiphysis of the distal phalanx of the hallux hp0009lx5z Irregular end part of the outermost bone of the big toe doelkens 2009-05-29T01:22:47Z UMLS:C4024016 human_phenotype owl:Class HP:0006344 biolink:NamedThing Abnormality of primary molar morphology An abnormality of morphology of primary molar. hp0009lx5z Abnormality of shape of primary molar|Abnormality of shape of baby molar|Abnormality of deciduous molar morphology UMLS:C4025059 human_phenotype owl:Class HP:0006481 biolink:NamedThing Abnormality of primary teeth Any abnormality of the primary tooth. hp0009lx5z Abnormality of deciduous teeth|Abnormality of milk teeth|Abnormality of baby teeth Primary teeth are also called temporary teeth or deciduous teeth. peter 2008-03-28T05:40:00Z UMLS:C4021596 human_phenotype owl:Class HP:0020130 biolink:NamedThing Increased urinary neutrophil gelatinase-associated lipocalin An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter). hp0009lx5z Increased urinary NGAL An increased urinary NGAL concentration may indicate tubular injury. robinp 2019-07-05 16:30:20+00:00 owl:Class HP:0020129 biolink:NamedThing Abnormal urine protein level Any deviation of the concentration of one or more proteins in the urine. hp0009lx5z robinp 2019-07-05 16:29:22+00:00 owl:Class HP:0031515 biolink:NamedThing Abnormal meiosis Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells. hp0009lx5z 2017-09-22 02:18:52+00:00 peter owl:Class HP:0033337 biolink:NamedThing Abnormal gametogenesis An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II. hp0009lx5z 2020-11-29 18:23:09+00:00 peter owl:Class HP:0100602 biolink:NamedThing Preeclampsia Pregnancy-induced hypertension in association with significant amounts of protein in the urine. hp0009lx5z Pre-eclampsia doelkens 2010-12-27T05:26:57Z MSH:D011225|UMLS:C0032914|SNOMEDCT_US:398254007|SNOMEDCT_US:15394000 human_phenotype owl:Class HP:0100603 biolink:NamedThing Toxemia of pregnancy Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. hp0009lx5z Hypertensive disorder of pregnancy|Toxaemia of pregnancy doelkens 2010-12-27T05:27:41Z MSH:D011225|UMLS:C0032914|SNOMEDCT_US:15394000|SNOMEDCT_US:398254007 human_phenotype owl:Class HP:0041163 biolink:NamedThing Fractured manual digit A partial or complete breakage of the manual digit. hp0009lx5z bone manual digit owl:Class HP:0011389 biolink:NamedThing Functional abnormality of the inner ear An abnormality of the function of the inner ear. hp0009lx5z Functional abnormality of the inner ear The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium. hecht 2012-03-09T04:58:30Z UMLS:C4023382 owl:Class HP:0007477 biolink:NamedThing Abnormal dermatoglyphics An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. hp0009lx5z Abnormal fingerprints|Dermatoglyphic abnormalities HP:0007422 UMLS:C0432333|SNOMEDCT_US:83145004 human_phenotype owl:Class HP:0011356 biolink:NamedThing Regional abnormality of skin An abnormality of the skin that is restricted to a particular body region. hp0009lx5z peter 2012-03-01T02:39:14Z UMLS:C4023402 human_phenotype owl:Class HP:0009468 biolink:NamedThing Deviation of the 2nd finger Displacement of the 2nd finger from its normal position. hp0009lx5z Displaced index finger|Deviated index finger doelkens 2009-01-15T09:42:36Z HP:0004101 UMLS:C4021468 human_phenotype owl:Class HP:0002863 biolink:NamedThing Myelodysplasia Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. hp0009lx5z Myelodysplastic syndrome|Hypoplastic myelodysplasia HP:0006730|HP:0004832 SNOMEDCT_US:128623006|SNOMEDCT_US:109995007|UMLS:C1851971|MSH:D009190|SNOMEDCT_US:188736006|UMLS:C3463824 human_phenotype owl:Class HP:0002506 biolink:NamedThing Diffuse cerebral atrophy Diffuse unlocalised atrophy affecting the cerebrum. hp0009lx5z Cerebral atrophy, diffuse HP:0006954 UMLS:C0598275 human_phenotype owl:Class HP:0100700 biolink:NamedThing Abnormal arachnoid mater morphology An abnormality of the Arachnoid mater. hp0009lx5z Abnormality of the arachnoidea|Abnormality of the arachnoid mater doelkens 2011-03-31T12:43:27Z UMLS:C4020955 human_phenotype owl:Class HP:0010651 biolink:NamedThing Abnormal meningeal morphology An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. hp0009lx5z Abnormality of the meninges peter 2010-02-25T10:19:40Z UMLS:C4023758 human_phenotype owl:Class HP:0012860 biolink:NamedThing Testicular fibrosis Formation of excess connective tissue in the testicle. hp0009lx5z Fibrotic testes|Fibrotic testicle hecht 2014-06-09T09:29:22Z UMLS:C4021061 human_phenotype owl:Class HP:0002656 biolink:NamedThing Epiphyseal dysplasia hp0009lx5z Abnormal development of end part of bone|Abnormal development of the ends of long bones in arms and legs SNOMEDCT_US:254080004|UMLS:C0392476|UMLS:C4280566 human_phenotype owl:Class HP:0040118 biolink:NamedThing Stenosis of the Eustachian tube hp0009lx5z HPO:skoehler UMLS:C0271469|SNOMEDCT_US:80101003 owl:Class HP:0005004 biolink:NamedThing Flattened proximal radial epiphyses An abnormally flat form of the proximal epiphysis of the radius. hp0009lx5z UMLS:C1849065 human_phenotype owl:Class HP:0040082 biolink:NamedThing Happy demeanor A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context. hp0009lx5z Happy demeanor|Happy demeanour HPO:skoehler UMLS:C1856115 owl:Class HP:0002442 biolink:NamedThing Dyscalculia A specific learning disability involving mathematics and arithmetic. hp0009lx5z Difficulty making arithmetical calculations UMLS:C4280576|UMLS:C1411876|SNOMEDCT_US:47916000 human_phenotype owl:Class HP:0001328 biolink:NamedThing Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. hp0009lx5z The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. HP:0007234 UMLS:C4025790 human_phenotype owl:Class HP:0007215 biolink:NamedThing Periodic hyperkalemic paralysis Episodes of muscle weakness associated with elevated levels of potassium in the blood. hp0009lx5z Hyperkalemic periodic paralysis MSH:D020513|SNOMEDCT_US:304737009|UMLS:C0238357 human_phenotype owl:Class HP:0003768 biolink:NamedThing Periodic paralysis Episodes of muscle weakness. hp0009lx5z Episodic paralysis UMLS:C1279412|SNOMEDCT_US:198030008 human_phenotype owl:Class HP:0001336 biolink:NamedThing Myoclonus Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. hp0009lx5z Jerking|Myoclonic jerks|Involuntary jerking movements Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. HP:0002535|HP:0007087 MSH:D009207|SNOMEDCT_US:17450006|SNOMEDCT_US:127324008|UMLS:C0027066|UMLS:C1854302 owl:Class HP:0032538 biolink:NamedThing Pretibial dimple A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. hp0009lx5z 2019-05-27 13:33:38+00:00 peter owl:Class HP:0100190 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 4th toe hp0009lx5z Triangular end part of the middle bone of the 4th toe doelkens 2010-06-24T04:54:13Z UMLS:C4022231 human_phenotype owl:Class HP:0100898 biolink:NamedThing Connective tissue nevi Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. hp0009lx5z Lesions in which collagen predominates are called collagenomas; lesions in which elastin predominates are called elastomas. A nevus mucinosis is a lesion in which an alteration in the amount of dermal glycosaminoglycan is present. The name nevus mucinosis is also used for lesions in which an alteration in more than one dermal component is present. Connective tissue nevi may be solitary or multiple, sporadic or inherited. They may occur as isolated skin lesions, or they may be associated with a number of syndromes. doelkens 2011-12-01T05:39:30Z SNOMEDCT_US:22858003|SNOMEDCT_US:400091006|MSH:C562737|UMLS:C0334083 human_phenotype owl:Class HP:0001995 biolink:NamedThing Hyperchloremic acidosis Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. hp0009lx5z UMLS:C0085569|SNOMEDCT_US:18104000 owl:Class HP:0011072 biolink:NamedThing Rootless teeth hp0009lx5z Agenesis of tooth root|Tooth with dentin dysplasia type i|Absence of tooth root|Teeth without roots|Aplasia of tooth root|Rootless teeth|Missing tooth root peter 2011-03-10T03:56:41Z SNOMEDCT_US:109493006|MSH:C538215|UMLS:C4082200|UMLS:C0399379 human_phenotype owl:Class HP:0006486 biolink:NamedThing Abnormal dental root morphology An abnormality of the dental root. hp0009lx5z Dental root anomaly|Abnormality of tooth root|Abnormality of the dental root peter 2008-03-28T05:52:00Z UMLS:C4025041 owl:Class HP:0100438 biolink:NamedThing Bullet-shaped proximal phalanx of the 4th toe An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped proximal bone of the 4th toe UMLS:C4022089 human_phenotype owl:Class HP:0006146 biolink:NamedThing Broad metacarpal epiphyses Increased side-to-side width of the metacarpal epiphyses. hp0009lx5z Broad end part of long bone of hand UMLS:C4025088 human_phenotype owl:Class HP:0005913 biolink:NamedThing Abnormality of metacarpal epiphyses hp0009lx5z Abnormality of end part of long bone of hand peter 2008-03-27T02:13:00Z UMLS:C4025110 human_phenotype owl:Class HP:0004931 biolink:NamedThing Arteriosclerosis of small cerebral arteries Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. hp0009lx5z Hardened artery wall in small cerebral arteries UMLS:C4280505|UMLS:C4025270 human_phenotype owl:Class HP:0002634 biolink:NamedThing Arteriosclerosis Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. hp0009lx5z Hardened artery wall Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries. MSH:D001161|SNOMEDCT_US:28960008|UMLS:C0003850|SNOMEDCT_US:107671003|UMLS:C4280568|SNOMEDCT_US:72092001 human_phenotype owl:Class HP:0033912 biolink:NamedThing Cortical radial artery medial atrophy Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. hp0009lx5z Interlobular artery medial atrophy|Medial atrophy within interlobular arteries 2021-06-23 23:09:41+00:00 peter owl:Class HP:0033888 biolink:NamedThing Abnormal cortical radial artery intima/media morphology Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. hp0009lx5z Abnormalities of the interlobular arterial intima/media 2021-06-23 22:00:14+00:00 peter owl:Class HP:0001547 biolink:NamedThing Abnormal rib cage morphology A morphological anomaly of the rib cage. hp0009lx5z Abnormality of the rib cage UMLS:C4025763 owl:Class HP:0032884 biolink:NamedThing Focal aware sensory seizure with somatosensory features A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure. hp0009lx5z These seizures involve the sensorimotor cortex. peter owl:Class HP:0011163 biolink:NamedThing Focal sensory seizure with somatosensory features A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. hp0009lx5z Focal somatosensory seizure|Partial somatosensory seizure|Somatosensory aura|Somatosensory auras These seizures involve the sensorimotor cortex. peter 2011-10-18T02:29:52Z UMLS:C4023502 owl:Class HP:0033797 biolink:NamedThing Leukocyte migration defect Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization. hp0009lx5z Defects of leukocyte migration|Abnormal leukocyte migration 2021-05-08 13:51:57+00:00 peter owl:Class HP:0033796 biolink:NamedThing Abnormal leukocyte physiology A functional abnormality of a white blood cell. hp0009lx5z 2021-05-08 13:50:44+00:00 peter owl:Class HP:0031190 biolink:NamedThing Superficial dermal perivascular inflammatory infiltrate Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis. hp0009lx5z Superficial perivascular inflammatory infiltrate 2017-06-24 14:01:24+00:00 peter owl:Class HP:0004839 biolink:NamedThing Pyropoikilocytosis A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn. hp0009lx5z hereditary pyropoikilocytosis HP:0004805 MSH:C563004|UMLS:C0520739|SNOMEDCT_US:9434008 human_phenotype owl:Class HP:0004447 biolink:NamedThing Poikilocytosis The presence of abnormally shaped erythrocytes. hp0009lx5z General description for abnormally shaped erythrocytes. peter 2008-03-18T10:06:00Z UMLS:C0221281|SNOMEDCT_US:165479004 human_phenotype owl:Class HP:0100547 biolink:NamedThing Abnormality of forebrain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. hp0009lx5z Abnormal shape of forebrain|Abnormality of the forebrain doelkens 2010-12-21T02:12:53Z UMLS:C4020967 human_phenotype owl:Class HP:0001742 biolink:NamedThing Nasal congestion Reduced ability to pass air through the nasal cavity often leading to mouth breathing. hp0009lx5z Obstruction of nose|Stuffy nose|Nasal obstruction|Congestion of nose|Nasal blockage|Blockage of nose SNOMEDCT_US:68235000|UMLS:C0027424|SNOMEDCT_US:267100006|SNOMEDCT_US:232209000|UMLS:C0027429|MSH:D015508 owl:Class HP:0006687 biolink:NamedThing Aortic tortuosity Abnormal tortuous (i.e., twisted) form of the aorta. hp0009lx5z UMLS:C4025003 human_phenotype owl:Class HP:0010016 biolink:NamedThing Bracket epiphysis of the 1st metacarpal An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate. hp0009lx5z Bracket shaped end part of 1st long bone of hand doelkens 2009-05-27T04:02:50Z UMLS:C4024107 human_phenotype owl:Class HP:0011418 biolink:NamedThing Abnormal insertion of umbilical cord hp0009lx5z Vasa previa peter 2012-03-15T10:15:01Z UMLS:C0269852|MSH:D055949|SNOMEDCT_US:79668009 human_phenotype owl:Class HP:0032521 biolink:NamedThing Self hugging Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting. hp0009lx5z Spasmodic upper-body squeeze 2019-05-26 11:19:58+00:00 This is a characteristic behavior in Smith-Magenis syndrome. peter owl:Class HP:0011716 biolink:NamedThing Junctional ectopic tachycardia Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. hp0009lx5z peter 2012-04-11T08:42:28Z SNOMEDCT_US:233901002|UMLS:C0039235|MSH:D013613|SNOMEDCT_US:419166005 human_phenotype owl:Class HP:0033043 biolink:NamedThing Edematous chorionic villi Swelling of the chorionic villi owing to fluid accumulation. hp0009lx5z peter owl:Class HP:0033042 biolink:NamedThing Abnormal chorion morphology Any structural anomaly of the fetal part of the placenta, which is known as the chorion. hp0009lx5z peter owl:Class HP:0012163 biolink:NamedThing Carotid artery dilatation A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. hp0009lx5z Carotid artery aneurysm peter 2013-02-16T10:18:06Z SNOMEDCT_US:233988005|UMLS:C0340639 human_phenotype owl:Class HP:0005344 biolink:NamedThing Abnormal carotid artery morphology Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches. hp0009lx5z Abnormality of the carotid arteries peter 2008-03-26T06:37:00Z UMLS:C4025211 human_phenotype owl:Class HP:0033568 biolink:NamedThing Left axis deviation A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees. hp0009lx5z Electrical left axis deviation 2021-01-24 13:42:00+00:00 peter owl:Class HP:0033566 biolink:NamedThing Abnormal ventricular axis Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization. hp0009lx5z Abnormal QRS axis 2021-01-24 13:37:25+00:00 The normal adult QRS axis is between -30 degrees and +90 degrees, which is directed downward and to the left. peter owl:Class HP:0010480 biolink:NamedThing Urethral fistula The presence of an abnormal connection between the urethra and another organ or the skin. hp0009lx5z peter 2009-09-15T10:37:37Z SNOMEDCT_US:14981000|UMLS:C0041970 human_phenotype owl:Class HP:0002703 biolink:NamedThing Abnormality of skull ossification An abnormality of the process of ossification of the skull. hp0009lx5z Abnormality of bone mineralization of calvarium|Abnormality of bone formation of calvarium|Abnormality of bone calcification of cranium|Abnormality of bone formation of cranium|Abnormality of ossification of cranium|Abnormality of bone calcification of skull|Abnormality of bone mineralization of skull|Abnormality of bone calcification of calvarium|Abnormality of bone mineralization of cranium|Abnormality of ossification of calvarium|Abnormality of skull bone formation The bones of the skull derive directly from mesenchyme cells by intramembranous ossification. peter 2008-02-28T11:53:00Z UMLS:C4280553|UMLS:C4025686|UMLS:C4280550|UMLS:C4280552|UMLS:C4280551 human_phenotype owl:Class HP:0008062 biolink:NamedThing Aplasia/Hypoplasia affecting the anterior segment of the eye Absence or underdevelopment of the anterior segment of the eye. hp0009lx5z peter 2008-04-02T03:33:00Z UMLS:C4024739 human_phenotype owl:Class HP:0005701 biolink:NamedThing Multiple enchondromatosis hp0009lx5z UMLS:C0014084|MSH:D004687|SNOMEDCT_US:268274005 human_phenotype owl:Class HP:0012061 biolink:NamedThing Urinary excretion of sialylated oligosaccharides Excretion of oligosaccharides conjugated to sialic acid in the urine. hp0009lx5z Increased urinary sialyloligosaccharides hecht 2012-08-04T02:14:44Z UMLS:C2673302 human_phenotype owl:Class HP:0010471 biolink:NamedThing Oligosacchariduria Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. hp0009lx5z peter 2009-09-15T09:48:34Z UMLS:C4023815 human_phenotype owl:Class HP:0031131 biolink:NamedThing Abnormal platelet phosphatidylserine exposure An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement. hp0009lx5z 2017-06-10 12:34:11+00:00 peter owl:Class HP:0031928 biolink:NamedThing True ependymal rosette A type of rosette in which a halo of cells surrounds an empty lumen. hp0009lx5z 2018-07-04 13:28:48+00:00 In contrast to the Homer Wright and the Flexner-Wintersteiner rosettes, the empty-appearing lumen of the true ependymal rosette resembles a tubule lumen and contains no fiber-rich neuropil or central cytoplasmic projections. These tubule-like structures, as well as more elongated versions known as ependymal canals, may represent an attempt by the tumor cells to recapitulate the formation of ventricles with ependymal linings. peter owl:Class HP:0031925 biolink:NamedThing Rosette A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub. hp0009lx5z 2018-07-04 13:22:47+00:00 Rosettes are named for the flower-like architectural ornament, this pattern resembles the rose windows found in many gothic cathedrals. Rosettes may be considered primary or secondary manifestations of tumor architecture. Primary rosettes form as a characteristic growth pattern of a given tumor type, whereas secondary rosettes result from the influence of external factors on tumor growth. peter owl:Class HP:0100001 biolink:NamedThing Malignant mesothelioma Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer. hp0009lx5z doelkens 2010-05-11T04:10:29Z MSH:C562839|SNOMEDCT_US:62064005|UMLS:C0345967 owl:Class HP:0000293 biolink:NamedThing Full cheeks Increased prominence or roundness of soft tissues between zygomata and mandible. hp0009lx5z Hyperplasia of cheeks|Big cheeks|Large cheeks|Chubby cheeks|Puffy cheeks|Hypertrophy of cheeks|Apple cheeks|Increased size of cheeks|Full cheeks HP:0004427|HP:0002262 UMLS:C1866231|UMLS:C4280648|UMLS:C2748653|UMLS:C3806443|UMLS:C4280647 human_phenotype owl:Class HP:0004426 biolink:NamedThing Abnormality of the cheek An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface hp0009lx5z Deformity of the cheeks|Abnormality of the cheeks|Malformation of the cheeks|Abnormality of the cheek|Anomaly of the cheeks peter 2008-03-18T09:42:00Z UMLS:C4025324 human_phenotype owl:Class HP:0031243 biolink:NamedThing Decreased VLDL cholesterol concentration A reduction in the amount of very-low-density lipoprotein cholesterol in the blood. hp0009lx5z Decreased circulating very-low-density lipoprotein levels 2017-08-08 11:27:32+00:00 peter owl:Class HP:0031889 biolink:NamedThing Abnormal VLDL cholesterol concentration Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood. hp0009lx5z 2018-05-13 14:47:34+00:00 VLDL is synthesized in the liver and is involved in the transport of triacylglycerol (TAG) to the body. peter owl:Class HP:0009664 biolink:NamedThing Absent epiphysis of the proximal phalanx of the thumb Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Absent end part of thumb innermost long bone doelkens 2009-01-30T09:17:13Z UMLS:C4024253 human_phenotype owl:Class HP:0002680 biolink:NamedThing J-shaped sella turcica A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. hp0009lx5z J-shaped pituitary fossa|Hour glass shaped sella turcica|J-shaped sella|J-shaped hypophysial fossa|Omega shaped sella turcica|Hour glass shaped pituitary fossa|Omega shaped hypophysial fossa|Omega shaped pituitary fossa|Hour glass shaped hypophysial fossa UMLS:C4072842|UMLS:C1854718|UMLS:C4072841 human_phenotype owl:Class HP:0002681 biolink:NamedThing Deformed sella turcica hp0009lx5z Malformation of sella turcica|Deformity of hypophysial fossa|Malformation of pituitary fossa|Abnormal shape of pituitary fossa|Abnormal shape of sella turcica|Abnormal shape of hypophysial fossa|Deformity of pituitary fossa|Malformation of hypophysial fossa UMLS:C1846437 human_phenotype owl:Class HP:0010099 biolink:NamedThing Partial duplication of the 1st metatarsal A developmental defect consisting in the duplication of part of the first metatarsal bone. hp0009lx5z Partial duplication of the 1st long bone of foot doelkens 2009-05-29T12:20:12Z UMLS:C4024049 human_phenotype owl:Class HP:0008720 biolink:NamedThing Primary testicular failure hp0009lx5z SNOMEDCT_US:370997001|UMLS:C1384582|SNOMEDCT_US:48723006 human_phenotype owl:Class HP:0033931 biolink:NamedThing Arcuate artery intima/media necrosis Death of tissue in the inner or middle layer of the arcuate artery of the kidney. hp0009lx5z 2021-06-24 01:19:00+00:00 peter owl:Class HP:0032894 biolink:NamedThing Seizure precipitated by febrile infection Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. hp0009lx5z Fever induced seizure Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. peter owl:Class HP:0032892 biolink:NamedThing Infection-related seizure Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. hp0009lx5z This includes seizures in the context of febrile or afebrile infection. peter owl:Class HP:0025345 biolink:NamedThing Abnormality of circulating beta-2-microglobulin level A deviation from the normal concentration of beta-2-microglobulin in the blood. hp0009lx5z Abnormality of circulating beta2-m level|Abnormality of circulating beta2 microglobulin level|Abnormality of circulating B2M level|Abnormality of circulating beta2m level 2017-02-12 13:50:53+00:00 HPO:probinson owl:Class HP:0025465 biolink:NamedThing Abnormal circulating beta globulin level A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood. hp0009lx5z 2017-05-07 11:35:19+00:00 The name beta globulin comes from the fact that protein electrophoresis of serum proteins results in a characteristic pattern of albumins, alpha, beta, and gamma globulins. HPO:probinson owl:Class HP:0410379 biolink:NamedThing Abnormal proportion of CD4-positive, alpha-beta memory T cells An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp0009lx5z owl:Class HP:0033457 biolink:NamedThing Elevated urine 3-methyl-2-oxovaleric acid level Increased amount of 3-methyl-2-oxovaleric acid in the urine. hp0009lx5z 2021-01-09 22:07:04+00:00 peter owl:Class HP:0033456 biolink:NamedThing Elevated urine keto acid level Increased amount of a keta acid in the urine. hp0009lx5z 2021-01-09 22:05:22+00:00 A keta acid is a compound whose molecule contains both a carboxyl group (-COOH) and a ketone group (-CO-). peter owl:Class HP:0410072 biolink:NamedThing Increased level of ribose in urine An increase in the level of ribose in the urine. hp0009lx5z 2018-01-30 00:47:12+00:00 Ribose is a pentose monosaccharide. ORCID:0000-0001-5208-3432 owl:Class HP:0011429 biolink:NamedThing Short fetal humerus length A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). hp0009lx5z Short fetal long bone in upper arm length|Short foetal long bone in upper arm length|Short foetal humerus length peter 2012-03-17T07:07:05Z UMLS:C4023364 human_phenotype owl:Class HP:0031169 biolink:NamedThing Postterm pregnancy A pregnancy that extends to 42 weeks of gestation or beyond. hp0009lx5z 2017-06-18 19:54:05+00:00 This term can apply to a child born of a postterm pregancy. peter owl:Class HP:0100065 biolink:NamedThing Triangular epiphyses of the 3rd toe hp0009lx5z Triangular end part of the 3rd toe bone doelkens 2010-06-24T09:58:55Z UMLS:C4022356 human_phenotype owl:Class HP:0009353 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 3rd finger A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-01-12T11:19:03Z UMLS:C4024416 human_phenotype owl:Class HP:0009417 biolink:NamedThing Pseudoepiphyses of the 3rd finger A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z Pseudoepiphyses of middle finger phalanges doelkens 2009-01-14T02:01:59Z HP:0004163 UMLS:C4021480 human_phenotype owl:Class HP:0041079 biolink:NamedThing Decreased body fat percentage The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males. hp0009lx5z Decreased adipose tissue percentage owl:Class HP:0001507 biolink:NamedThing Growth abnormality hp0009lx5z Growth issue|Abnormal growth|Growth abnormality HP:0008904 UMLS:C0262361 owl:Class HP:0033410 biolink:NamedThing Elevated circulating cartilage oligomeric matrix protein concentration An increased blood concentration of cartilage oligomeric matrix protein (COMP). hp0009lx5z 2021-01-09 16:18:45+00:00 Cartilage oligomeric matrix protein (sCOMP) is physiologically located in the extracellular matrix (ECM) of cartilage tissue. It is assumed that sCOMP changes reflect the extrusion of COMP fragments of loaded cartilage tissue. peter owl:Class HP:0032592 biolink:NamedThing Aplasia of the right hemidiaphragm Congenital absence of the right-sided diaphragm. hp0009lx5z Right diaphragmatic hernia peter owl:Class HP:0009169 biolink:NamedThing Broad middle phalanx of the 5th finger Increased width of the middle phalanx of the 5th finger. hp0009lx5z Broad middle bone of pinky finger|Broad middle bone of pinkie finger|Wide middle phalanx of the 5th finger|Broad middle bone of little finger peter 2008-12-29T02:49:04Z UMLS:C4021517 human_phenotype owl:Class HP:0009844 biolink:NamedThing Broad middle phalanx of finger Increased width of the middle phalanx of finger. hp0009lx5z Broad middle phalanges of the hand|Broad middle finger bones|Broad middle phalanges of finger doelkens 2009-03-11T12:15:55Z UMLS:C4021383 human_phenotype owl:Class HP:0001334 biolink:NamedThing Communicating hydrocephalus A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. hp0009lx5z Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency. MSH:D006849|SNOMEDCT_US:271569006|UMLS:C0009451 owl:Class HP:0000238 biolink:NamedThing Hydrocephalus Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. hp0009lx5z Hydrocephaly|Too much cerebrospinal fluid in the brain|Nonsyndromal hydrocephalus Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. HP:0007189|HP:0008503 UMLS:C0020255|SNOMEDCT_US:230745008|MSH:D006849 owl:Class HP:0009570 biolink:NamedThing Bullet-shaped middle phalanx of the 2nd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected. hp0009lx5z Bullet-shaped middle bone of index finger doelkens 2009-01-28T05:10:24Z UMLS:C4024287 human_phenotype owl:Class HP:0009062 biolink:NamedThing Infantile axial hypotonia Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy. hp0009lx5z Hypotonia, axial, in infancy UMLS:C3806604 human_phenotype owl:Class HP:0008936 biolink:NamedThing Muscular hypotonia of the trunk Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. hp0009lx5z Truncal hypotonia|Axial hypotonia|Low muscle tone in trunk HP:0002320 UMLS:C1853743 human_phenotype owl:Class HP:0010482 biolink:NamedThing Acromelia of the upper limbs Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments. hp0009lx5z peter 2009-09-16T08:56:43Z UMLS:C4023810 human_phenotype owl:Class HP:0010884 biolink:NamedThing Acromelia Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. hp0009lx5z peter 2010-09-20T11:17:40Z UMLS:C4023675 human_phenotype owl:Class HP:0009019 biolink:NamedThing Progressive loss of facial adipose tissue hp0009lx5z Progressive loss of subcutaneous adipose tissue from face|Facial fat wasting|Loss of subcutaneous adipose tissue from face, progressive|Progressive loss of facial subcutaneous adipose tissue|Progressive loss of facial fat|Atrophy of facial adipose tissue|Facial fat atrophy UMLS:C1837510 human_phenotype owl:Class HP:0009165 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger. hp0009lx5z Speckled calcifications in end part of the outermost bone of pinky finger|Speckled calcifications in end part of the outermost bone of little finger|Speckled calcifications in end part of the outermost bone of pinkie finger peter 2008-12-29T02:07:42Z UMLS:C4024563 human_phenotype owl:Class HP:0009391 biolink:NamedThing Stippling of the epiphyses of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger. hp0009lx5z Speckled calcifications in end part of little finger bone|Speckled calcifications in end part of pinkie finger bone|Speckled calcifications in end part of pinky finger bone doelkens 2009-01-13T01:19:03Z UMLS:C4024398 human_phenotype owl:Class HP:0003993 biolink:NamedThing Broad ulna Increased width of the ulna. hp0009lx5z Wide ulna HP:0200081 UMLS:C4020692|UMLS:C4025460 human_phenotype owl:Class HP:0040071 biolink:NamedThing Abnormal morphology of ulna hp0009lx5z HPO:skoehler UMLS:C4022453 owl:Class HP:0032967 biolink:NamedThing Panacinar emphysema Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis. hp0009lx5z peter owl:Class HP:0002097 biolink:NamedThing Emphysema hp0009lx5z Pulmonary emphysema HP:0006534 UMLS:C0034067|MSH:D011656|SNOMEDCT_US:87433001 owl:Class HP:0007366 biolink:NamedThing Atrophy/Degeneration affecting the brainstem hp0009lx5z Brainstem atrophy peter 2008-04-01T10:22:00Z UMLS:C4024900 human_phenotype owl:Class HP:0010888 biolink:NamedThing Morbus Koehler Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis. hp0009lx5z sdoelken 2010-09-25T11:04:19Z UMLS:C4023674 human_phenotype owl:Class HP:0041233 biolink:NamedThing Fractured ilium A partial or complete breakage of the ilium. hp0009lx5z bone ilium owl:Class HP:0000169 biolink:NamedThing Gingival fibromatosis The presence of fibrosis of the gingiva. hp0009lx5z Idiopathic gingival hyperplasia|Hereditary gingival fibromatosis|Gingival fibroma|Gingival fibrous nodules Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported. UMLS:C4280677|NCIT:C3041|UMLS:C0016049|UMLS:C0399440|SNOMEDCT_US:109620006|MSH:C562884|MSH:D005351|SNOMEDCT_US:58569000 human_phenotype owl:Class HP:0100745 biolink:NamedThing Abnormality of the humeroulnar joint An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint. hp0009lx5z doelkens 2011-06-06T06:25:05Z UMLS:C4021980 human_phenotype owl:Class HP:0012675 biolink:NamedThing Iron accumulation in brain An abnormal build up of iron (Fe) in brain tissue. hp0009lx5z Iron accumulation in brain|Brain iron deposition hecht 2014-03-13T07:22:40Z UMLS:C4021076 human_phenotype owl:Class HP:0500219 biolink:NamedThing Abnormal CSF tyrosine concentration Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid. hp0009lx5z Abnormal tyrosine levels in cerebrospinal fluid 2019-02-25 19:48:03+00:00 owl:Class HP:0500214 biolink:NamedThing Abnormal CSF aromatic amino acid concentration Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid. hp0009lx5z Abnormal aromatic amino acid levels in cerebrospinal fluid 2019-02-25 19:28:05+00:00 owl:Class HP:0030086 biolink:NamedThing Reduced CSF lactate Decreased concentration of lactate in the cerebrospinal fluid. hp0009lx5z Hypolactatorachia UMLS:C4022655 owl:Class HP:0030085 biolink:NamedThing Abnormal CSF lactate level Abnormal concentration of lactate in the cerebrospinal fluid. hp0009lx5z UMLS:C4022656 owl:Class HP:0010173 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the toes hp0009lx5z Absent/small toe bones|Absent/underdeveloped toe bones doelkens 2009-05-29T01:39:26Z UMLS:C4023987 human_phenotype owl:Class HP:0033127 biolink:NamedThing Abnormality of the musculoskeletal system An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. hp0009lx5z 2020-09-05 13:35:03+00:00 peter owl:Class HP:0100351 biolink:NamedThing Contractures of the proximal interphalangeal joint of the 5th toe The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively. hp0009lx5z Camptodactyly of the fifth toe|Camptodactyly of the 5th toe UMLS:C4021016 human_phenotype owl:Class HP:0001836 biolink:NamedThing Camptodactyly of toe Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. hp0009lx5z Camptodactyly of feet UMLS:C4021774 human_phenotype owl:Class HP:0006505 biolink:NamedThing Abnormality of limb epiphysis morphology An anomaly of one or more epiphyses of a limb. hp0009lx5z Abnormal shape of end part of limb bones|Abnormality involving the epiphyses of the limbs An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. peter 2008-03-28T06:48:00Z UMLS:C4021593 human_phenotype owl:Class HP:0100402 biolink:NamedThing Duplication of the middle phalanx of the 4th toe Partial or complete duplication of middle phalanx of fourth toe. hp0009lx5z Duplication of the middle bone of the 4th toe|Partial/complete duplication of the middle phalanx of the 4th toe|Duplication of the middle phalanx of the fourth toe UMLS:C4020995 human_phenotype owl:Class HP:0030914 biolink:NamedThing Abnormal peristalsis An anomaly of the wave-like muscle contractions of the digestive tract. hp0009lx5z owl:Class HP:0002579 biolink:NamedThing Gastrointestinal dysmotility Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. hp0009lx5z GI dysmotility UMLS:C1836923 human_phenotype owl:Class HP:0007377 biolink:NamedThing Abnormality of somatosensory evoked potentials An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. hp0009lx5z Abnormality of SSEPs peter 2008-04-01T11:23:00Z UMLS:C4021577 human_phenotype owl:Class HP:0003254 biolink:NamedThing Abnormality of DNA repair An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage. hp0009lx5z UMLS:C4021848 human_phenotype owl:Class HP:0033113 biolink:NamedThing Gallop rhythm In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse. hp0009lx5z Triple rhythm 2020-08-30 11:33:21+00:00 peter owl:Class HP:0031657 biolink:NamedThing Abnormal heart sound Any abnormal noise generated by the beating heart. hp0009lx5z 2017-12-17 15:56:24+00:00 The first two heart sounds, S1 and S2, define ventricular systole. S1 comprises the closure of the mitral and tricuspid valves. S2 is produced by aortic and pulmonic valve closure. peter owl:Class HP:0009279 biolink:NamedThing Radial deviation of the 4th finger Displacement of the 4th finger towards the radial side (i.e., towards the thumb). hp0009lx5z Radial deviation of the ring finger doelkens 2009-01-07T04:24:53Z UMLS:C4024473 human_phenotype owl:Class HP:0003527 biolink:NamedThing Hyperprostaglandinuria An increased concentration of prostaglandin in the urine. hp0009lx5z High urine prostaglandin levels UMLS:C1866498 human_phenotype owl:Class HP:0012715 biolink:NamedThing Profound hearing impairment A profound (essentially complete) form of hearing impairment. hp0009lx5z Profound hearing impairment peter 2014-03-23T12:38:39Z UMLS:C4022756 human_phenotype owl:Class HP:0030177 biolink:NamedThing Abnormality of peripheral nervous system electrophysiology An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. hp0009lx5z Abnormal nerve conduction study UMLS:C0853150 owl:Class HP:0009128 biolink:NamedThing Aplasia/Hypoplasia involving the musculature of the extremities hp0009lx5z Absent/small muscles of extremities|Absent/underdeveloped muscles of extremities peter 2008-04-07T02:01:00Z UMLS:C4024581 human_phenotype owl:Class HP:0001460 biolink:NamedThing Aplasia/Hypoplasia involving the skeletal musculature Absence or underdevelopment of the musculature. hp0009lx5z Absent/small skeletal muscles|Absent/underdeveloped skeletal muscles peter 2008-04-07T10:46:00Z UMLS:C4025773 human_phenotype owl:Class HP:0008606 biolink:NamedThing Supraauricular pit Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. hp0009lx5z Supraauricular sinus|Supraauricular fistula|Pit above the ear|Supraauricular sinuses UMLS:C1862059 human_phenotype owl:Class HP:0100277 biolink:NamedThing Periauricular skin pits Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. hp0009lx5z Periauricular pits|Periauricular earpits|Periauricular fistulas|Periauricular sinus|Pits around the ear doelkens 2010-08-05T10:54:32Z UMLS:C4022171 human_phenotype owl:Class HP:0033744 biolink:NamedThing Global cerebellar dysplasia A type of cerebellar dysplasia that affects the entire cerebellum. hp0009lx5z 2021-04-16 21:54:51+00:00 peter owl:Class HP:0007033 biolink:NamedThing Cerebellar dysplasia Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. hp0009lx5z Any part of the cerebellum can be dysplastic, from small focal regions within one hemisphere to abnormal foliation throughout the cerebellum. Hypoplastic cerebella are frequently also dysmorphic, as observed in tubulinopathies and cobblestone malformations. HP:0006893 UMLS:C3278322 owl:Class HP:0032223 biolink:NamedThing Blood group Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems. hp0009lx5z 2019-01-24 11:33:51+00:00 At present, there are 34 blood group systems recognized by the International Society for Blood Transfusion. peter owl:Class HP:0000001 biolink:NamedThing All hp0009lx5z Root of all terms in the Human Phenotype Ontology. UMLS:C0444868 human_phenotype owl:Class HP:0007641 biolink:NamedThing Dyschromatopsia A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. hp0009lx5z Color blindness|Colour blindness UMLS:C0858618 owl:Class HP:0040100 biolink:NamedThing Abnormality of the vestibular window hp0009lx5z Abnormality of the oval window HPO:skoehler UMLS:C4021035 owl:Class HP:0000359 biolink:NamedThing Abnormality of the inner ear An abnormality of the inner ear. hp0009lx5z Inner ear abnormality|Abnormality of the inner ear UMLS:C4021809 human_phenotype owl:Class HP:0003320 biolink:NamedThing C1-C2 subluxation A partial dislocation of the atlantoaxial joints. hp0009lx5z A subluxation affecting the intervertebral joint between the first and second cervical vertebrae. UMLS:C1848446 human_phenotype owl:Class HP:0008440 biolink:NamedThing C1-C2 vertebral abnormality Any abnormality of the atlas and the axis. hp0009lx5z The atlas is the first cervical vertebral body and the axis is the second vertebral body. UMLS:C4024675 human_phenotype owl:Class HP:0012068 biolink:NamedThing Aspartylglucosaminuria Excretion of excess amounts of aspartylglucosamine in the urine. hp0009lx5z High urine aspartylglucosamine levels hecht 2012-08-04T03:15:37Z MSH:D054880|SNOMEDCT_US:54954004|UMLS:C0268225 human_phenotype owl:Class HP:0012067 biolink:NamedThing Glycopeptiduria Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. hp0009lx5z High urine glycopeptide levels This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties. hecht 2012-08-04T03:03:03Z UMLS:C4023061 human_phenotype owl:Class HP:0005339 biolink:NamedThing Abnormality of complement system An abnormality of the complement system. hp0009lx5z The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system. peter 2008-03-26T07:58:00Z HP:0025541 UMLS:C4025213 human_phenotype owl:Class HP:0005368 biolink:NamedThing Abnormality of humoral immunity An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. hp0009lx5z Defective humoral immunity UMLS:C3150510 human_phenotype owl:Class HP:0031338 biolink:NamedThing Abnormal cardiomyocyte plakoglobin staining Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes. hp0009lx5z 2017-08-27 13:39:34+00:00 peter owl:Class HP:0005121 biolink:NamedThing Posterior scalloping of vertebral bodies An excessive concavity of the posterior surface of one or more vertebral bodies. hp0009lx5z Posterior vertebral body scalloping The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies. Neurofibromatosis may be associated with marked scalloping of the posterior borders of the vertebral bodies resulting from intraspinal tumors. HP:0004579|HP:0004572 UMLS:C1850196 human_phenotype owl:Class HP:0004378 biolink:NamedThing Abnormality of the anus Abnormality of the anal canal. hp0009lx5z Abnormality of the anus The anal canal is continuous proximally with the rectum and distally terminates with the anus. peter 2008-03-18T08:11:00Z UMLS:C4025329 human_phenotype owl:Class HP:0000022 biolink:NamedThing Abnormality of male internal genitalia An abnormality of the male internal genitalia. hp0009lx5z The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. UMLS:C4025899 owl:Class HP:0000812 biolink:NamedThing Abnormal internal genitalia An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). hp0009lx5z Abnormal internal genitalia UMLS:C4025824 human_phenotype owl:Class HP:0010275 biolink:NamedThing Pseudoepiphyses of the proximal phalanges of the hand A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-07-06T04:25:12Z UMLS:C4023926 human_phenotype owl:Class HP:0100489 biolink:NamedThing Proximal/middle symphalangism of 2nd toe Bony fusion of the middle and proximal phalanges of the 2nd toe. hp0009lx5z Fused middle and innermost bones of 2nd toe|Symphalangism of the middle and proximal phalanges of the 2nd toe doelkens 2010-11-18T06:49:16Z HP:0100479 UMLS:C4020972 human_phenotype owl:Class HP:0100237 biolink:NamedThing Proximal foot symphalangism hp0009lx5z doelkens 2010-06-24T05:37:18Z UMLS:C4022185 human_phenotype owl:Class HP:0009798 biolink:NamedThing Euthyroid goiter A goiter that is not associated with functional thyroid abnormalities. hp0009lx5z Euthyroid goitre peter 2009-02-11T05:21:23Z UMLS:C0302859|MSH:C562732|SNOMEDCT_US:32251000119106 human_phenotype owl:Class HP:0000853 biolink:NamedThing Goiter An enlargement of the thyroid gland. hp0009lx5z Enlarged thyroid gland in neck|Goitre|Thyroid goiter|Thyroid goitre UMLS:C0018021|MSH:D006042|SNOMEDCT_US:3716002 human_phenotype owl:Class HP:0031039 biolink:NamedThing Early spermatogenesis maturation arrest A type of maturation arrest in which only spermatogonia or spermatocytes are found. hp0009lx5z 2017-05-27 11:50:54+00:00 peter owl:Class HP:0031038 biolink:NamedThing Spermatogenesis maturation arrest Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. hp0009lx5z Meiotic maturation arrest of spermatogenesis 2017-05-27 11:49:05+00:00 Maturation arrest (MA) of spermatogenesis is diagnosed on histology as interruption of spermatogenesis before the final stage without impairment of Sertoli or Leydig cells. It is considered a condition of irreversible or absolute infertility. peter owl:Class HP:0031011 biolink:NamedThing Fatty streak Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV. hp0009lx5z Sudanophilic lesion 2017-05-18 02:35:32+00:00 Some early studies used the terms sudanophilic lesion or sudanophilia to refer to fatty streaks. peter owl:Class HP:0002621 biolink:NamedThing Atherosclerosis A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. hp0009lx5z Plaque build-up in arteries|Atherosclerotic cardiovascular disease|Narrowing and hardening of arteries Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon. SNOMEDCT_US:38716007|UMLS:C4280569|MSH:D050197|UMLS:C0004153 human_phenotype owl:Class HP:0045058 biolink:NamedThing Abnormality of the testis size An anomaly of the size of the testicle (the male gonad). hp0009lx5z UMLS:C4073180 owl:Class HP:0007858 biolink:NamedThing Chorioretinal lacunae Punched out lesions in the pigmented layer of the retina. hp0009lx5z Lacunar retinal depigmentation A chorioretinal lacuna can have the appearance of a pseudodisk in the retina. HP:0007786 UMLS:C1844751|UMLS:C4072866 owl:Class HP:0032156 biolink:NamedThing Skin detachment Loss of sections of skin either spontaneously or after gentle handling. hp0009lx5z Epidermal detachment|Detached skin|Skin sloughing 2018-12-02 15:19:00+00:00 peter owl:Class HP:0011638 biolink:NamedThing Anomalous origin of left coronary artery from the pulmonary artery Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve. hp0009lx5z ALCAPA|Anomalous left coronary artery from the pulmonary artery|Bland-Garland-White syndrome In this anomaly the function of the LMCA territory often requires extensive collateral formation from the RCA, which is often dilated. In the first month of life, physiologic pulmonary hypertension tends to preserve anterograde flow within the left coronary artery, and infants are usually asymptomatic. As pulmonary pressure drops, left-to-right shunting from the higher pressure left coronary arterial system to the lower pressure pulmonary arterial system occurs, and patients become symptomatic. Imaging findings may include markedly dilated collateral arteries and coronary veins. peter 2012-04-09T08:40:53Z SNOMEDCT_US:450301003|Fyler:3101|UMLS:C3472166 human_phenotype owl:Class HP:0008407 biolink:NamedThing Hyperconvex thumb nails hp0009lx5z Tightly curved thumb nail UMLS:C1855290 human_phenotype owl:Class HP:0033326 biolink:NamedThing Elevated circulating hydroxyphenlyllactic acid concentration An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation. hp0009lx5z 2020-11-29 14:16:15+00:00 Hydroxyphenyllactic acid or 4-hydroxyphenyllactate (the L-form) is a tyrosine metabolite. The level of L-hydroxyphenyllactic acid is elevated in patients with a deficiency of the enzyme p-hydroxyphenylpyruvate oxidase. peter owl:Class HP:0030626 biolink:NamedThing Foveal intraretinal hyporeflective spaces on macular OCT hp0009lx5z UMLS:C4073096 owl:Class HP:0030627 biolink:NamedThing Foveal hyporeflective spaces on macular OCT hp0009lx5z UMLS:C4073097 owl:Class HP:0002810 biolink:NamedThing Dumbbell-shaped metaphyses hp0009lx5z Dumbbell shaped wide portion of long bone|Dumbbell shaped metaphyses|Dumbbell shaped metaphysis HP:0005079 UMLS:C3277123 human_phenotype owl:Class HP:0005773 biolink:NamedThing Short forearm Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. hp0009lx5z Short forearm UMLS:C1855299 human_phenotype owl:Class HP:0009821 biolink:NamedThing Forearm undergrowth Forearm shortening because of underdevelopment of one or more bones of the forearm. hp0009lx5z Short forearm bones|Short forearms|Shortened forearm|Hypoplasia involving forearm bones|Forearm undergrowth doelkens 2009-02-23T05:11:42Z HP:0003968|HP:0006405|HP:0003024 UMLS:C1855299 human_phenotype owl:Class HP:0032748 biolink:NamedThing Focal impaired awareness emotional seizure with anger Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0032746 biolink:NamedThing Focal impaired awareness emotional seizure A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0410137 biolink:NamedThing Solar urticaria Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light. hp0009lx5z 2018-03-02 20:07:52+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0410134 biolink:NamedThing Physical urticaria Urticaria caused by physical agents, such as heat, cold, light, friction. hp0009lx5z 2018-03-02 19:37:30+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0000002 biolink:NamedThing Abnormality of body height Deviation from the norm of height with respect to that which is expected according to age and gender norms. hp0009lx5z Abnormality of body height peter 2008-02-27T02:20:00Z UMLS:C4025901 human_phenotype owl:Class HP:0010282 biolink:NamedThing Thin lower lip vermilion Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). hp0009lx5z Thin lower lip|Thin vermilion border of lower lip|Decreased volume of lower lip vermilion|Decreased height of lower lip vermilion|Thin red part of the lower lip|Decreased volume of lower lip Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual. peter 2009-07-12T10:17:22Z UMLS:C2053440 human_phenotype owl:Class HP:0000233 biolink:NamedThing Thin vermilion border Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). hp0009lx5z Thin vermilion borders|Thin lips|Decreased volume of lip|Decreased volume of lip vermillion|Thin vermillion The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. HP:0000213 UMLS:C0578038|SNOMEDCT_US:301348000 owl:Class HP:0001195 biolink:NamedThing Single umbilical artery Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. hp0009lx5z Only one artery in umbilical cord instead of two|2 vessel cord|2 vessel umbilical cord|Two-vessel cord|Two vessel umbilical cord|Two vessel cord The umbilical cord normally has two arteries and one vein. UMLS:C1384670|MSH:D058529|SNOMEDCT_US:204470001 owl:Class HP:0012759 biolink:NamedThing Neurodevelopmental abnormality A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. hp0009lx5z This term should be used to describe abnormalities with onset in the developmental period. peter 2014-04-03T12:20:28Z UMLS:C4022737 human_phenotype owl:Class HP:0030544 biolink:NamedThing Unaided visual acuity 0.9 LogMAR hp0009lx5z UMLS:C4073018 owl:Class HP:0003106 biolink:NamedThing Subperiosteal bone resorption Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. hp0009lx5z Subperiosteal erosions UMLS:C1848541 human_phenotype owl:Class HP:0031525 biolink:NamedThing Keratoacanthoma Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals. hp0009lx5z 2017-09-23 02:14:55+00:00 peter owl:Class HP:0001053 biolink:NamedThing Hypopigmented skin patches hp0009lx5z Patchy loss of skin colour|Patchy loss of skin color UMLS:C1836735 human_phenotype owl:Class HP:0009534 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 2nd finger hp0009lx5z Triangular end part of innermost long bone of index finger|Triangular epiphysis of proximal index finger phalanx doelkens 2009-01-16T01:12:34Z HP:0004130 UMLS:C4021454 human_phenotype owl:Class HP:0010278 biolink:NamedThing Triangular epiphyses of the proximal phalanges of the hand hp0009lx5z Triangular end part of the innermost hand bones doelkens 2009-07-06T04:25:12Z UMLS:C4023923 human_phenotype owl:Class HP:0008306 biolink:NamedThing Abnormal iron deposition in mitochondria hp0009lx5z UMLS:C3151556 human_phenotype owl:Class HP:0012698 biolink:NamedThing Cerebellar gliosis Focal proliferation of glial cells in the cerebellum. hp0009lx5z peter 2014-03-22T06:03:03Z UMLS:C4022768 human_phenotype owl:Class HP:4000048 biolink:NamedThing Comminuted fracture A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site. hp0009lx5z 2021-05-02 20:52:20+00:00 robinp owl:Class HP:0031046 biolink:NamedThing Absent soft palate A developmental defect characterized by lack of a soft palate. hp0009lx5z Agenesis of the soft palate 2017-05-27 14:06:10+00:00 peter owl:Class HP:0008400 biolink:NamedThing Onycholysis of distal fingernails Detachment of the distal fingernails from the nail bed. hp0009lx5z Detachment of outermost fingernails UMLS:C4024680 human_phenotype owl:Class HP:0040039 biolink:NamedThing Onycholysis of fingernails hp0009lx5z Onycholysis of fingernail|Detachment of fingernails HPO:skoehler UMLS:C3553044 owl:Class HP:0012039 biolink:NamedThing Descemet Membrane Folds Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea. hp0009lx5z peter 2012-07-27T02:14:55Z UMLS:C0155116|SNOMEDCT_US:193821003 human_phenotype owl:Class HP:0011490 biolink:NamedThing Abnormal Descemet membrane morphology Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. hp0009lx5z Abnormality of Descemet's membrane peter 2012-04-02T10:23:11Z UMLS:C4023330 human_phenotype owl:Class HP:0100847 biolink:NamedThing Palmoplantar pustulosis A chronic, relapsing, pustular eruption that is localized to the palms and soles. hp0009lx5z Pustulosis of palms and soles|Palmoplantar pustules|Pustulosis palmaris et plantaris There are recurrent and painful eruptions of pustules on the palms and the soles of feet that may resolve with red-brown discoloration. doelkens 2011-06-09T07:07:06Z SNOMEDCT_US:27520001|UMLS:C0030246|MEDDRA:10050185|MSH:D011565 human_phenotype owl:Class HP:0200039 biolink:NamedThing Pustule A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. hp0009lx5z Pustules|Skin pustule|Pimple|Pustula|Skin pustules|Pustular lesion sebastiankohler 2010-06-18T02:03:24Z MEDDRA:10037578|SNOMEDCT_US:103605005|SNOMEDCT_US:285305004|SNOMEDCT_US:47002008|UMLS:C0542346|SNOMEDCT_US:271760008|UMLS:C0241157 owl:Class HP:0007230 biolink:NamedThing Decreased distal sensory nerve action potential A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. hp0009lx5z UMLS:C4024920 owl:Class HP:0007078 biolink:NamedThing Decreased amplitude of sensory action potentials A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. hp0009lx5z UMLS:C4024943 owl:Class HP:0006960 biolink:NamedThing Choroid plexus calcification The presence of calcium deposition in the choroid plexus. hp0009lx5z Calcified choroid plexus UMLS:C1863184 human_phenotype owl:Class HP:0007376 biolink:NamedThing Abnormal choroid plexus morphology An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. hp0009lx5z The choroid plexus is a structure in the ventricles of the brain where cerebrospinal fluid (CSF) is produced. peter 2008-04-01T10:52:00Z UMLS:C4024893 owl:Class HP:0002203 biolink:NamedThing Respiratory paralysis Inability to move the muscles of respiration. hp0009lx5z MSH:D012133|SNOMEDCT_US:64228003|UMLS:C0035232 human_phenotype owl:Class HP:0010603 biolink:NamedThing Odontogenic keratocysts of the jaw A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. hp0009lx5z Keratocystic odontogenic tumor|Keratocysts of the jaw|Keratocystic odontogenic tumour Keratocystic odontogenic tumor (KCOT) most commonly affects the mandible, but may also be localized in the maxilla. sandra1 2009-10-27T02:26:31Z UMLS:C1708604 human_phenotype owl:Class HP:0100612 biolink:NamedThing Odontogenic neoplasm Neoplasm involving odontogenic cells, an odontogenic tumor. hp0009lx5z Odontogenic tumour|Odontogenic tumor Examples for odontogenic neoplasia are Adenomatoid odontogenic tumors, Ameloblastomas, Calcifying epithelial odontogenic tumors, Calcifying odontogenic cysts, Dentigerous cysts, Odontogenic keratocysts, Dontogenic myxomas, Odontomas. doelkens 2010-12-28T11:03:36Z UMLS:C0028880|SNOMEDCT_US:3833004|SNOMEDCT_US:127578009|NCIT:C3286|MSH:D009808 owl:Class HP:0004100 biolink:NamedThing Abnormal 2nd finger morphology An anomaly of the second finger, also known as the index finger. hp0009lx5z Abnormality of index finger|Abnormality of the 2nd finger UMLS:C4021683 human_phenotype owl:Class HP:0009230 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 5th finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger. hp0009lx5z doelkens 2009-01-05T06:11:33Z UMLS:C4024514 human_phenotype owl:Class HP:0004216 biolink:NamedThing Osteolytic defects of the phalanges of the 5th finger Dissolution or degeneration of bone tissue of the phalanges of the 5th finger. hp0009lx5z Lytic defects of the phalanges of the little finger UMLS:C4021677 human_phenotype owl:Class HP:0009823 biolink:NamedThing Aplasia involving bones of the upper limbs hp0009lx5z Absent bones of the upper limbs doelkens 2009-02-23T05:13:20Z UMLS:C4024194 human_phenotype owl:Class HP:0000882 biolink:NamedThing Hypoplastic scapulae Underdeveloped scapula. hp0009lx5z Small shoulder blade|Hypoplastic scapula|Small scapulae|Scapular hypoplasia|Small scapula|Short scapulae HP:0000906|HP:0006616 UMLS:C1846434 human_phenotype owl:Class HP:0006713 biolink:NamedThing Aplasia/Hypoplasia of the scapulae hp0009lx5z Absent/small shoulder blade|Absent/underdeveloped shoulder blade peter 2008-03-29T03:58:00Z UMLS:C4024991 human_phenotype owl:Class HP:0400000 biolink:NamedThing Tall chin Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. hp0009lx5z Long chin|Tall chin|Vertical excess of chin|Increased height of chin|Increased height of menton region|Long lower third of face|Vertical hyperplasia of chin UMLS:C3532221|UMLS:C4021875|SNOMEDCT_US:471397004 owl:Class HP:0033164 biolink:NamedThing Focal active colitis Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. hp0009lx5z 2020-09-24 09:27:12+00:00 Focal crypt injury by neutrophils (cryptitis/crypt abscesses), or focal active colitis (FAC), is a common isolated finding in endoscopic colorectal biopsies. Focal active colitis is often thought of as a feature of Crohn's disease, but may also be seen in ischemia, infections, partially treated ulcerative colitis, and as an isolated finding in patients undergoing endoscopy to exclude neoplasia. peter owl:Class HP:0032305 biolink:NamedThing Decreased mannose-binding protein level An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation. hp0009lx5z 2019-02-12 23:29:35+00:00 peter owl:Class HP:0032304 biolink:NamedThing Abnormal mannose-binding protein level Any deviation from the normal concentration of mannose-binding protein in the blood circulation. hp0009lx5z 2019-02-12 23:27:46+00:00 Mannose-binding protein is encoded by the MBL2 gene. It is a calcium-dependent lectin involved in innate immune defense and that binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. peter owl:Class HP:0100255 biolink:NamedThing Metaphyseal dysplasia The presence of dysplastic regions in metaphyseal regions. hp0009lx5z doelkens 2010-07-14T05:15:56Z HP:0000948|HP:0005636|HP:0005704|HP:0006427|HP:0005002 SNOMEDCT_US:27837003|MSH:C536252|UMLS:C0265294 human_phenotype owl:Class HP:0005463 biolink:NamedThing Elongated sella turcica hp0009lx5z UMLS:C1863311 human_phenotype owl:Class HP:0009326 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger. hp0009lx5z Irregular end part of the middle bone of the middle finger doelkens 2009-01-12T11:15:44Z UMLS:C4024439 human_phenotype owl:Class HP:0012247 biolink:NamedThing Specific anosmia Anosmia for one particular odor. hp0009lx5z peter 2013-04-02T07:20:11Z UMLS:C4022994 owl:Class HP:0100484 biolink:NamedThing Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal hp0009lx5z Fused innermost bones of third toe with 3rd long bone of foot UMLS:C4022047 human_phenotype owl:Class HP:0100132 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 2nd toe hp0009lx5z Triangular end part of the innermost bone of the 2nd toe doelkens 2010-06-24T10:06:29Z UMLS:C4022289 human_phenotype owl:Class HP:0009640 biolink:NamedThing Synostosis of the proximal phalanx of the thumb with the 1st metacarpal Fusion of the proximal phalanx of the thumb with the 1st metacarpal. hp0009lx5z Fusion of the innermost bone of the thumb with the 1st long bone of hand doelkens 2009-01-29T05:17:08Z UMLS:C4024262 human_phenotype owl:Class HP:0009635 biolink:NamedThing Synostosis of thumb phalanx Fusion of a phalanx of the thumb with another bone. hp0009lx5z Fusion of thumb bone doelkens 2009-01-29T05:09:41Z UMLS:C4024263 human_phenotype owl:Class HP:0000130 biolink:NamedThing Abnormality of the uterus An abnormality of the uterus. hp0009lx5z Abnormality of the uterus|Uterine abnormalities|Uterine malformations HP:0008692|HP:0008630 MSH:C562565|SNOMEDCT_US:37849005|UMLS:C0266383 human_phenotype owl:Class HP:0000008 biolink:NamedThing Abnormal morphology of female internal genitalia An abnormality of the female internal genitalia. hp0009lx5z Abnormality of female internal genitalia UMLS:C4025900 human_phenotype owl:Class HP:0040024 biolink:NamedThing Clinodactyly of the 3rd finger hp0009lx5z Curvature of middle finger HPO:skoehler UMLS:C4022485|UMLS:C4280296 owl:Class HP:0009317 biolink:NamedThing Deviation of the 3rd finger Displacement of the 3rd finger from its normal position. hp0009lx5z Deviated middle finger doelkens 2009-01-12T11:02:27Z HP:0004152 UMLS:C4021493 human_phenotype owl:Class HP:0031424 biolink:NamedThing Abnormal circulating beta-C-terminal telopeptide level A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover. hp0009lx5z Abnormal circulating beta-CTx level|Abnormal circulating beta-CrossLaps level 2017-09-16 11:18:31+00:00 peter owl:Class HP:5000015 biolink:NamedThing Anti-Homer-3 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3. hp0009lx5z Anti-Homer protein homolog 3 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0010400 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 2nd toe hp0009lx5z Uneven increase in bone density in the innermost bone of the 2nd toe doelkens 2009-07-16T11:58:15Z UMLS:C4023854 human_phenotype owl:Class HP:0010352 biolink:NamedThing Patchy sclerosis of 2nd toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Uneven increase in bone density in 2nd toe bone|Patchy sclerosis of the phalanges of the 2nd toe doelkens 2009-07-16T11:45:34Z UMLS:C4021287 human_phenotype owl:Class HP:0030743 biolink:NamedThing Glial remnants anterior to the optic disc Persistance of a posterior remnant of the hyaloid artery located at the optic disc. hp0009lx5z Bergmeister papilla UMLS:C4280791 owl:Class HP:0007968 biolink:NamedThing Remnants of the hyaloid vascular system Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. hp0009lx5z Congenital retinal septum|Persistent tunica vasculosa lentis|Persistent foetal vasculature|Persistent fetal vasculature|Persistent posterior fetal fibrovascular sheath of the lens|Persistent hypertrophic primary vitreous|Persistent hyperplastic primary vitreous|Persistent hyperplasia of primary vitreous|Persistent posterior foetal fibrovascular sheath of the lens SNOMEDCT_US:69927002|MSH:D054514|UMLS:C0266568|SNOMEDCT_US:44647001|SNOMEDCT_US:314270008 human_phenotype owl:Class HP:0004253 biolink:NamedThing Absent trapezium hp0009lx5z Absent trapezium bone UMLS:C1847190 human_phenotype owl:Class HP:0011732 biolink:NamedThing Abnormality of adrenal morphology Any structural anomaly of the adrenal glands. hp0009lx5z peter 2012-04-21T08:04:29Z UMLS:C4023213 human_phenotype owl:Class HP:0031071 biolink:NamedThing Abnormal endocrine morphology Any anomaly of the structure of an organ ofthe endocrine system. hp0009lx5z 2017-05-28 23:11:43+00:00 peter owl:Class HP:0007649 biolink:NamedThing Congenital hypertrophy of retinal pigment epithelium Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. hp0009lx5z This feature is found in around 3-5% of the population and is of no functional significance. SNOMEDCT_US:232074003|UMLS:C0339555 human_phenotype owl:Class HP:0011512 biolink:NamedThing Hyperpigmentation of the fundus Increased pigmentation of the fundus hp0009lx5z Hyperpigmented fundi|Hyperpigmented fundus peter 2012-04-06T10:34:11Z UMLS:C4021146 human_phenotype owl:Class HP:0009247 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 4th finger hp0009lx5z Abnormality of the end part of the middle bone of the ring finger doelkens 2009-01-07T11:29:14Z UMLS:C4024500 human_phenotype owl:Class HP:0009283 biolink:NamedThing Abnormality of the middle phalanx of the 4th finger hp0009lx5z Abnormal middle bone of ring finger|Abnormality of the middle phalanx of the ring finger doelkens 2009-01-07T04:42:40Z HP:0004204 UMLS:C4021501 human_phenotype owl:Class HP:0010398 biolink:NamedThing Curved proximal phalanx of the 2nd toe A deviation from the normal straight form of the proximal phalanx of the 2nd toe. hp0009lx5z Curved innermost bone of 2nd toe doelkens 2009-07-16T11:58:15Z UMLS:C4023856 human_phenotype owl:Class HP:0010206 biolink:NamedThing Curved proximal toe phalanx A deviation from the normal straight shape of a proximal phalanx of one or more toes. hp0009lx5z Curved proximal phalanges of the toes|Curved innermost toe bones doelkens 2009-05-29T01:54:18Z UMLS:C4021315 human_phenotype owl:Class HP:0031001 biolink:NamedThing Minifascicle formation A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle. hp0009lx5z 2017-05-13 20:08:29+00:00 peter owl:Class HP:0007432 biolink:NamedThing Intermittent generalized erythematous papular rash hp0009lx5z Intermittent generalised erythematous papular rash UMLS:C2749995 human_phenotype owl:Class HP:0200034 biolink:NamedThing Papule A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. hp0009lx5z Papules|Skin papules sebastiankohler 2010-06-18T01:38:03Z UMLS:C0332563|SNOMEDCT_US:25694009|SNOMEDCT_US:443871003|MEDDRA:10033733 human_phenotype owl:Class HP:0041053 biolink:NamedThing Fractured head A partial or complete breakage of the head. hp0009lx5z bone head owl:Class HP:0010810 biolink:NamedThing Long uvula Increased length of the uvula. hp0009lx5z Elongated uvula|Long palatine uvula|Hyperplasia of uvula In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. peter 2010-07-05T10:23:52Z UMLS:C4280362|UMLS:C4023697 owl:Class HP:0012686 biolink:NamedThing Increased pineal volume An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland. hp0009lx5z peter 2014-03-22T01:11:33Z UMLS:C4022779 human_phenotype owl:Class HP:0012684 biolink:NamedThing Abnormal pineal volume An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland. hp0009lx5z This feature is typically assessed by magnetic resonance tomography of the brain. peter 2014-03-22T01:08:48Z UMLS:C4022781 human_phenotype owl:Class HP:0009501 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 2nd finger hp0009lx5z Epiphyseal abnormality of the proximal phalanx of the 2nd finger doelkens 2009-01-16T01:08:35Z HP:0004127 UMLS:C4021462 human_phenotype owl:Class HP:0100138 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 3rd toe hp0009lx5z Enlarged end part of the outermost bone of the 3rd toe doelkens 2010-06-24T10:23:44Z UMLS:C4022283 human_phenotype owl:Class HP:0012516 biolink:NamedThing Tetralogy of Fallot with pulmonary atresia An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. hp0009lx5z Tetralogy of Fallot with Pulmonary Atresia (TOF/PA) is a complex lesion with many different anatomic variants. The primary source of variability in this lesion is in the anatomy of the pulmonary arteries, with the spectrum ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries and major aorto-pulmonary collaterals (MAPCA's) providing all the pulmonary blood flow. The majority of cases fall somewhere in between these two ends of the spectrum, with the total pulmonary blood flow provided by a combination of diminutive native pulmonary arteries and multiple MAPCA. peter 2013-12-08T09:44:24Z UMLS:C0344882|SNOMEDCT_US:253513005 human_phenotype owl:Class HP:0001636 biolink:NamedThing Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. hp0009lx5z Tetrology of fallot MSH:D013771|UMLS:C0039685|SNOMEDCT_US:86299006|ICD-10:Q21.3 human_phenotype owl:Class HP:0012397 biolink:NamedThing Aortic atherosclerotic lesion The presence of atheromas or atherosclerotic plaques in the aorta. hp0009lx5z Aortic atherosclerosis|Plaque build-up in aorta artery|Atherosclerosis of the aorta|Atherosclerotic changes of aorta peter 2013-11-07T08:04:30Z UMLS:C0155733|SNOMEDCT_US:81817003 human_phenotype owl:Class HP:0033798 biolink:NamedThing Impaired leukocyte adhesion During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation. hp0009lx5z 2021-05-08 13:55:54+00:00 peter owl:Class HP:0000585 biolink:NamedThing Band keratopathy An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. hp0009lx5z Calcific band keratopathy SNOMEDCT_US:35055000|UMLS:C0155120|MSH:C562399 human_phenotype owl:Class HP:0011493 biolink:NamedThing Central opacification of the cornea Reduced transparency of the central portion of the corneal stroma. hp0009lx5z peter 2012-04-02T10:36:22Z UMLS:C4023327 human_phenotype owl:Class HP:0011412 biolink:NamedThing Ventouse delivery Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. hp0009lx5z Vacuum-assisted vaginal delivery|Vacuum extraction peter 2012-03-15T09:59:31Z SNOMEDCT_US:10761101000119105|SNOMEDCT_US:61586001|UMLS:C1456852|MSH:D014620|UMLS:C0042225|UMLS:C2825567 human_phenotype owl:Class HP:0001787 biolink:NamedThing Abnormal delivery An abnormality of the birth process. hp0009lx5z Delivery complication|Abnormal delivery SNOMEDCT_US:274127000|UMLS:C0549629 human_phenotype owl:Class HP:0033372 biolink:NamedThing Abnormal KCO Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O. hp0009lx5z 2020-12-23 12:36:28+00:00 The carbon monoxide transfer coefficient (KCO is approximately kCO/barometric pressure in mL/minute/ mmHg/L) is often written as DLCO/VA. It is an index of the efficiency of alveolar transfer of carbon monoxide. peter owl:Class HP:0011428 biolink:NamedThing Short fetal femur length A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). hp0009lx5z Short fetal thigh bone length|Short foetal femur length|Short foetal thigh bone length peter 2012-03-17T07:05:40Z UMLS:C0743924 human_phenotype owl:Class HP:0031517 biolink:NamedThing Verruciform xanthoma A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms. hp0009lx5z 2017-09-22 02:25:50+00:00 This lesion is seen chiefly in the oral mucosa. peter owl:Class HP:0008777 biolink:NamedThing Abnormal vocal cord morphology An abnormality of the vocal cord. hp0009lx5z Abnormality of the vocal cords The vocal cords, also known as the vocal folds, represent a subdivision of the larynx, and consist of twin infoldings of mucous membrane stretched horizontally across the larynx. peter 2008-04-04T06:18:00Z UMLS:C0262665 human_phenotype owl:Class HP:0025423 biolink:NamedThing Abnormal larynx morphology Any anomaly of the structure of the larynx. hp0009lx5z 2017-04-23 12:44:49+00:00 HPO:probinson owl:Class HP:0033267 biolink:NamedThing Abnormal glomerular capillary lumen morphology Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. hp0009lx5z 2020-11-28 15:58:18+00:00 peter owl:Class HP:0025006 biolink:NamedThing Abnormal glomerular capillary morphology A structural anomaly of the capillary blood vessels in the renal glomerulus. hp0009lx5z Abnormalities of the glomerular capillary wall 2016-08-06 22:53:26+00:00 HPO:probinson owl:Class HP:0007513 biolink:NamedThing Generalized hypopigmentation hp0009lx5z Pale pigmentation|Generalised hypopigmentation|Fair skin HP:0000984|HP:0007419 UMLS:C1849923 human_phenotype owl:Class HP:0100107 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 2nd toe hp0009lx5z doelkens 2010-06-24T10:04:20Z UMLS:C4022314 human_phenotype owl:Class HP:0004812 biolink:NamedThing B Acute Lymphoblastic Leukemia A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood. hp0009lx5z B Acute Lymphoblastic Leukaemia|Pre-B-cell acute lymphoblastic leukaemia|Pre-B-cell acute lymphoblastic leukemia human_phenotype owl:Class HP:0006721 biolink:NamedThing Acute lymphoblastic leukemia A form of acute leukemia characterized by excess lympoblasts. hp0009lx5z Acute lymphatic leukemia|Acute lymphoid leukaemia|Acute lymphocytic leukemia|Acute lymphoid leukemia|Acute lymphoblastic leukaemia|Acute lymphocytic leukaemia|Acute lymphatic leukaemia HP:0004803|HP:0005555 SNOMEDCT_US:128822004|UMLS:C0023449|SNOMEDCT_US:91857003 human_phenotype owl:Class HP:0000200 biolink:NamedThing Short lingual frenulum The presence of an abnormally short lingual frenulum. hp0009lx5z Hypoplasia of lingual frenulum|Deficiency of lingual frenulum|Hypoplasia of tongue frenum|Hypoplasia of tongue frenulum|Tight lingual frenulum|Short tongue frenulum|Short lingual frenum|Hypoplasia of lingual frenum|Short tongue frenum UMLS:C4280673|SNOMEDCT_US:249388005|UMLS:C0426501 human_phenotype owl:Class HP:0000190 biolink:NamedThing Abnormal oral frenulum morphology An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. hp0009lx5z Abnormality of lingual frenum|Abnormality of frenum of tongue|Abnormality of oral frenum|Abnormality of oral frenula A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum. UMLS:C4025881 human_phenotype owl:Class HP:0003451 biolink:NamedThing Increased rate of premature chromosome condensation An increased rate of premature chromosome condensation. hp0009lx5z UMLS:C4025613 human_phenotype owl:Class HP:0011019 biolink:NamedThing Abnormality of chromosome condensation An abnormality of chromosome condensation. hp0009lx5z peter 2011-02-22T07:19:30Z UMLS:C4023593 human_phenotype owl:Class HP:0012558 biolink:NamedThing Abnormal T3/T4 ratio A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal. hp0009lx5z peter 2014-01-04T01:50:30Z UMLS:C4022847 human_phenotype owl:Class HP:0031508 biolink:NamedThing Abnormal thyroid hormone level Any deviation from the normal range of the hormones produced by the thyroid gland. hp0009lx5z 2017-09-21 01:56:23+00:00 Thyroid hormones (TH) are involved in the regulation of metabolism, proliferation, and growth of most tissues. Serum TH levels are tightly controlled by the hypothalamic, pituitary, and thyroid (HPT) axis to deliver appropriate amounts of TH to target tissues. The two major THs (T3 and T4) are iodothyrosines synthesized by the thyroid gland under the control of thyrotropin/thyroid stimulating hormone (TSH), a glycoprotein heterodimer that is produced by the pituitary gland. TSH, in turn, is regulated by thyrotropin releasing hormone (TRH), a tripeptide generated by the hypothalamus that is released into its own portal system to reach the pituitary. Both the production of TRH and TSH are under negative feedback control determined by the circulating free TH concentrations. peter owl:Class HP:0030050 biolink:NamedThing Narcolepsy An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. hp0009lx5z There are two distinct groups of patients with narcolepsy, ie, those having narcolepsy with cataplexy and those having narcolepsy without cataplexy. UMLS:C0027404|SNOMEDCT_US:60380001|MSH:D009290 owl:Class HP:0011632 biolink:NamedThing Partial right sided absence of pericardium A congenital anomaly with lack of part of the pericardium on the righthand side of the heart. hp0009lx5z A congenital anomaly and not the result of a pericardectomy. peter 2012-04-08T10:09:24Z UMLS:C4023257 human_phenotype owl:Class HP:0032302 biolink:NamedThing Kappa Bence Jones proteinuria The presence of free monoclonal kappa immunoglobulin light chains in the urine. hp0009lx5z 2019-02-12 23:22:01+00:00 peter owl:Class HP:0030156 biolink:NamedThing Bence Jones Proteinuria The presence of free monoclonal immunoglobulin light chains in the urine. hp0009lx5z Bence Jones proteins are produced by neoplastic plasma cells and can be found in the context of multiple myeloma or Waldenstrom's macroglobulinemia. SNOMEDCT_US:274771005|UMLS:C0004968 owl:Class HP:0100462 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 4th toe Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Uneven increase in bone density in middle bone of the 4th toe UMLS:C4022065 human_phenotype owl:Class HP:0032719 biolink:NamedThing Focal impaired awareness motor seizure with dysarthria/anarthria A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure. hp0009lx5z Focal motor impaired awareness seizure with dysarthria/anarthria peter owl:Class HP:0032712 biolink:NamedThing Focal impaired awareness motor seizure A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z Focal motor impaired awareness seizure peter owl:Class HP:0031454 biolink:NamedThing Apocrine hidrocystoma A cystic lesions that forms a benign tumor of an apocrine sweat gland. hp0009lx5z 2017-09-17 15:50:31+00:00 peter owl:Class HP:0008114 biolink:NamedThing Metatarsal diaphyseal endosteal sclerosis Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. hp0009lx5z UMLS:C1840420 human_phenotype owl:Class HP:0100925 biolink:NamedThing Sclerosis of foot bone An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Sclerosis of bones of the feet|Increased bone density in foot bone doelkens 2011-12-02T11:12:32Z UMLS:C4020931 human_phenotype owl:Class HP:0008772 biolink:NamedThing Aplasia/Hypoplasia of the external ear The presence of aplasia or developmental hypoplasia of all or part of the external ear. hp0009lx5z Absent/underdeveloped external ear|Absent/small external ear peter 2008-04-04T05:45:00Z UMLS:C4024626 human_phenotype owl:Class HP:0010685 biolink:NamedThing Low alkaline phosphatase of renal origin An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. hp0009lx5z Low ALP of renal origin doelkens 2010-03-05T11:12:47Z UMLS:C4023740 human_phenotype owl:Class HP:0003282 biolink:NamedThing Low alkaline phosphatase Abnormally reduced serum levels of alkaline phosphatase. hp0009lx5z Low ALP|Decreased serum alkaline phosphatase UMLS:C1860130 human_phenotype owl:Class HP:0031487 biolink:NamedThing Capillary malformation of the lip A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. hp0009lx5z 2017-09-18 00:22:25+00:00 peter owl:Class HP:0031486 biolink:NamedThing Vascular malformation of the lip An anomaly of blood vessels located in the lip. hp0009lx5z 2017-09-18 00:21:32+00:00 peter owl:Class HP:0010715 biolink:NamedThing 2-5 toe syndactyly Syndactyly with fusion of toes two to five. hp0009lx5z Webbed 2nd-5th toes sdoelken 2010-03-26T05:22:26Z UMLS:C4023724 human_phenotype owl:Class HP:0030932 biolink:NamedThing 1-minute APGAR score of 5 hp0009lx5z 2016-11-07 18:16:35+00:00 robinp owl:Class HP:0030918 biolink:NamedThing Low 1-minute APGAR score hp0009lx5z Low one-minute APGAR score 2016-11-07 18:06:34+00:00 A normal APGAR score can be coded as 'not Low 1-minute APGAR score'. robinp owl:Class HP:0006492 biolink:NamedThing Aplasia/Hypoplasia of the fibula Absence or underdevelopment of the fibula. hp0009lx5z Absent/small calf bone|Fibular aplasia/hypoplasia|Hypoplastic/aplastic fibulae|Absent/underdeveloped calf bone peter 2008-03-28T06:03:00Z HP:0006421|HP:0005672 UMLS:C1856732 human_phenotype owl:Class HP:0002991 biolink:NamedThing Abnormality of fibula morphology An anomaly of the calf bone (fibula), one of the two bones of the calf. hp0009lx5z Abnormality of the calf bone UMLS:C4025664 human_phenotype owl:Class HP:0009493 biolink:NamedThing Irregular epiphyses of the 2nd finger Irregular radiographic opacity of the epiphyses of the 2nd finger. hp0009lx5z Irregular end part of the index finger doelkens 2009-01-16T01:07:16Z UMLS:C4024332 human_phenotype owl:Class HP:0010233 biolink:NamedThing Irregular epiphyses of the phalanges of the hand Irregular radiographic opacity of the epiphyses of the phalanges of the fingers. hp0009lx5z Irregular end part of finger bones|Irregular epiphyses of the fingers doelkens 2009-07-06T03:31:52Z HP:0009364 UMLS:C4021307 human_phenotype owl:Class HP:0006202 biolink:NamedThing Osteolysis of scaphoids hp0009lx5z UMLS:C4025082 human_phenotype owl:Class HP:0000150 biolink:NamedThing Gonadoblastoma The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. hp0009lx5z HP:0006745 MSH:D018238|UMLS:C0206661|NCIT:C3754|SNOMEDCT_US:74751003 human_phenotype owl:Class HP:0001581 biolink:NamedThing Recurrent skin infections Infections of the skin that happen multiple times. hp0009lx5z Cutaneous infections|Skin infections, recurrent|Recurrent skin infections HP:0007563 UMLS:C1853193 human_phenotype owl:Class HP:0011983 biolink:NamedThing Brown pigment gallstones A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones. hp0009lx5z peter 2012-07-18T09:26:55Z UMLS:C4023097 human_phenotype owl:Class HP:0011981 biolink:NamedThing Pigment gallstones Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. hp0009lx5z peter 2012-07-18T09:18:44Z UMLS:C3278865 human_phenotype owl:Class HP:0000119 biolink:NamedThing Abnormality of the genitourinary system The presence of any abnormality of the genitourinary system. hp0009lx5z Genitourinary tract malformation|Genitourinary dysplasia|Genitourinary tract anomalies|Genitourinary disease|Genitourinary abnormality|Abnormality of the GU system|Urogenital anomalies|Urogenital abnormalities HP:0008688|HP:0008704|HP:0008658|HP:0008713 UMLS:C4020895|SNOMEDCT_US:42030000|UMLS:C0042063|SNOMEDCT_US:287085006|UMLS:C0080276|MSH:D014564 human_phenotype owl:Class HP:0005017 biolink:NamedThing Polyarticular chondrocalcinosis hp0009lx5z UMLS:C4025258 human_phenotype owl:Class HP:0000934 biolink:NamedThing Chondrocalcinosis Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . hp0009lx5z Calcium deposits in joints SNOMEDCT_US:201637001|SNOMEDCT_US:239832006|SNOMEDCT_US:239838005|UMLS:C0553730|MSH:D002805 human_phenotype owl:Class HP:0006628 biolink:NamedThing Absent sternal ossification Lack of formation of mineralized bony tissue of the sternum. hp0009lx5z Lack of sternal ossification|Absent sternal mineralization|Absent bone maturation in sternum HP:0006666|HP:0006654 UMLS:C4280443|UMLS:C1857074 human_phenotype owl:Class HP:0006714 biolink:NamedThing Aplasia/Hypoplasia of the sternum hp0009lx5z Absent/underdeveloped sternum|Absent/small sternum peter 2008-03-29T04:01:00Z UMLS:C4024990 human_phenotype owl:Class HP:0100124 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 2nd toe hp0009lx5z Cone-shaped end part of the innermost bone of the 2nd toe doelkens 2010-06-24T10:06:29Z UMLS:C4022297 human_phenotype owl:Class HP:0012569 biolink:NamedThing Delayed menarche First period after the age of 15 years. hp0009lx5z Delayed start of first period peter 2014-01-08T08:20:18Z UMLS:C0949173 human_phenotype owl:Class HP:0001220 biolink:NamedThing Interphalangeal joint contracture of finger Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. hp0009lx5z Interphalangeal joint flexion contractures UMLS:C4021784 human_phenotype owl:Class HP:0033786 biolink:NamedThing Hypomature enamel Enamel with a white or brown discoloration without hypoplasia. hp0009lx5z Enamel opacity 2021-05-07 11:02:43+00:00 Enamel maturation is a process through which enamel matrix proteins are removed to allow full growth of the enamel hydroxyapatite crystals. Hypomature enamel can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Hypomature enamel may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. The enamel is usually hard, colored but not translucid. It is a qualitative defect of enamel. peter owl:Class HP:0000682 biolink:NamedThing Abnormal dental enamel morphology An abnormality of the dental enamel. hp0009lx5z Abnormality of dental enamel|Abnormal tooth enamel|Defective tooth enamel|Enamel abnormality|Malformation of tooth enamel|Dystrophic tooth enamel|Enamel abnormalities|Malformation of dental enamel The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite. HP:0006322 UMLS:C4280262|UMLS:C4021800|UMLS:C4280615 owl:Class HP:0030630 biolink:NamedThing Irregular central macular autofluorescence hp0009lx5z UMLS:C4073100 owl:Class HP:0030602 biolink:NamedThing Abnormal fundus autofluorescence imaging Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference. hp0009lx5z Fundus autofluorescence imagine is used for evaluating age related macular degeneration, macular dystrophies, retinitis pigmentosa, white dot syndromes, retinal drug toxicities, and various other retinal disorders. UMLS:C4073073 owl:Class HP:0020191 biolink:NamedThing Anterior predominant thick cortex pachygyria Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. hp0009lx5z Pachygyria with cortical thickness > 10 mm anterior predominant robinp 2019-09-03 13:06:53+00:00 owl:Class HP:0020187 biolink:NamedThing Thick pachygyria Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. hp0009lx5z Pachygyria with cortical thickness above 10 mm|Pachygyria with cortical thickness > 10 mm robinp 2019-09-03 12:56:36+00:00 owl:Class HP:0000703 biolink:NamedThing Dentinogenesis imperfecta Developmental dysplasia of dentin. hp0009lx5z This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. SNOMEDCT_US:196286005|UMLS:C0011436|MSH:D003811 owl:Class HP:0010299 biolink:NamedThing Abnormal dentin morphology Any abnormality of dentin. hp0009lx5z Abnormality of dentine|Abnormal dentin|Abnormality of dentin|Dentin anomaly Dentin is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp. peter 2009-07-12T12:11:14Z UMLS:C4021299 owl:Class HP:0040083 biolink:NamedThing Toe walking hp0009lx5z Toe-walking|Toe walking HPO:skoehler UMLS:C0427144|SNOMEDCT_US:250018006 owl:Class HP:0031418 biolink:NamedThing Increased body mass index Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages. hp0009lx5z Increased BMI 2017-09-12 02:12:54+00:00 peter owl:Class HP:0045081 biolink:NamedThing Abnormality of body mass index Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages. hp0009lx5z Abnormal BMI|Abnormal body mass index owl:Class HP:0002933 biolink:NamedThing Ventral hernia Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall. hp0009lx5z SNOMEDCT_US:414396006|UMLS:C0019326|MSH:D006555 human_phenotype owl:Class HP:0009330 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger. hp0009lx5z Speckled calcifications in end part of the middle bone of the middle finger doelkens 2009-01-12T11:15:44Z UMLS:C4024436 human_phenotype owl:Class HP:0030631 biolink:NamedThing Hyperautofluorescent macular lesion Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. hp0009lx5z A large portion of hyper-autofluorescent lesions results from alterations in lipofuscin metabolism. Accumulation of lipofuscin in RPE cells, accumulation of bisretinoids in photoreceptor outer segments, and photooxidation of bisretinoids in lipofuscin can all contribute to enhanced autofluorescence. UMLS:C4073101 owl:Class HP:0025158 biolink:NamedThing Hyperautofluorescent retinal lesion Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. hp0009lx5z 2016-12-04 12:53:55+00:00 HPO:probinson owl:Class HP:0008463 biolink:NamedThing Central vertebral hypoplasia hp0009lx5z UMLS:C4024672 human_phenotype owl:Class HP:0031843 biolink:NamedThing Bradyphrenia Abnormal slowness of thought processes. hp0009lx5z Slowed thinking|Slowness of thought|Slowed thoughts|Mental slowness 2018-05-05 15:04:12+00:00 peter owl:Class HP:0100543 biolink:NamedThing Cognitive impairment Abnormal cognition with deficits in thinking, reasoning, or remembering. hp0009lx5z Cognitive impairment|Abnormality of cognition|Cognitive defects|Cognitive deficits|Cognitive abnormality|Intellectual impairment An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions. doelkens 2010-12-20T06:50:32Z HP:0002441|HP:0002128|HP:0006998|HP:0002129|HP:0002302|HP:0006972|HP:0002337|HP:0007211 MSH:D060825|UMLS:C0683322|UMLS:C0338656|SNOMEDCT_US:386806002 owl:Class HP:0009937 biolink:NamedThing Facial hirsutism Excess facial hair. hp0009lx5z Excessive face hair peter 2009-05-10T10:58:49Z UMLS:C1850041|UMLS:C2128203 human_phenotype owl:Class HP:0001132 biolink:NamedThing Lens subluxation Partial dislocation of the lens of the eye. hp0009lx5z Partially dislocated lens Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis). UMLS:C0023316|MSH:D007906|SNOMEDCT_US:65814009 human_phenotype owl:Class HP:0001083 biolink:NamedThing Ectopia lentis Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. hp0009lx5z Lens dislocation|Abnormality of lens position HP:0007637|HP:0008016|HP:0000665|HP:0007882 MSH:D004479|SNOMEDCT_US:74969002|MSH:D007906|UMLS:C0023309|UMLS:C0013581 human_phenotype owl:Class HP:0031475 biolink:NamedThing Status epilepticus without prominent motor symptoms There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. hp0009lx5z Nonconvulsive status epilepticus 2017-09-17 16:57:40+00:00 peter owl:Class HP:0002133 biolink:NamedThing Status epilepticus Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. hp0009lx5z Prolonged seizure|Repeated seizures without recovery between them|Repeated seizure without recovery In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown. UMLS:C0038220|MSH:D013226|SNOMEDCT_US:230456007 human_phenotype owl:Class HP:0004292 biolink:NamedThing Undermodelled hand bones hp0009lx5z UMLS:C4025364 human_phenotype owl:Class HP:0100942 biolink:NamedThing Sclerosis of the distal phalanx of the 5th toe hp0009lx5z Increased bone density in the outermost bone of the pinkie toe|Increased bone density in the outermost bone of the little toe|Increased bone density in the outermost bone of the pinky toe UMLS:C4021916 human_phenotype owl:Class HP:0100948 biolink:NamedThing Sclerosis of distal toe phalanx An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in the outermost bone of the toes|Sclerosis of the distal phalanges of the toes UMLS:C4020923 human_phenotype owl:Class HP:0005200 biolink:NamedThing Retroperitoneal fibrosis hp0009lx5z SNOMEDCT_US:49120005|MSH:D012185|UMLS:C0035357 human_phenotype owl:Class HP:0025469 biolink:NamedThing Anagen effluvium An abnormal loss of anagen (growth phase) hairs. hp0009lx5z 2017-05-14 11:20:58+00:00 Anagen effluvium is the result of a disturbance of proliferative activity of hair follicle matrix cells, which leads to the narrowing and subsequent breakage of the proximal portion of hair shafts. This type of hair loss can be caused by systemic chemotherapy or by radiotherapy to the head. HPO:probinson owl:Class HP:0007469 biolink:NamedThing Palmoplantar cutis gyrata Cutis gyrata of palms and soles. hp0009lx5z Cutis gyrata of palms and soles UMLS:C1851797 human_phenotype owl:Class HP:0010127 biolink:NamedThing Absent epiphysis of the proximal phalanx of the hallux Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux. hp0009lx5z Absent end part of the innermost bone of the big toe doelkens 2009-05-29T01:22:23Z UMLS:C4024032 human_phenotype owl:Class HP:0010113 biolink:NamedThing Absent hallux epiphysis Failure to form (agenesis) of one or more epiphyses of the big toe. hp0009lx5z Absent end part of big toe bone|Absent epiphyses of the hallux doelkens 2009-05-29T01:16:38Z UMLS:C4020906 human_phenotype owl:Class HP:0012075 biolink:NamedThing Personality disorder An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder. hp0009lx5z A Personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work and school. It is usually manifest since childhood or adolescence and continues throughout adulthood. hecht 2012-08-11T02:20:27Z UMLS:C0031212|SNOMEDCT_US:33449004|MSH:D010554|ICD-10:F60 owl:Class HP:0004875 biolink:NamedThing Neonatal inspiratory stridor hp0009lx5z UMLS:C4025281 human_phenotype owl:Class HP:0002643 biolink:NamedThing Neonatal respiratory distress Respiratory difficulty as newborn. hp0009lx5z Newborn respiratory distress|Neonatal respiratory distress|Respiratory distress, neonatal|Infantile respiratory distress UMLS:C0852283 human_phenotype owl:Class HP:0041114 biolink:NamedThing Fractured metaphysis of femur A partial or complete breakage of the metaphysis of femur. hp0009lx5z bone metaphysis of femur owl:Class HP:0006489 biolink:NamedThing Abnormality of the femoral metaphysis An anomaly of the femoral metaphysis. hp0009lx5z Abnormality of the wide portion of the femoral bone peter 2008-03-28T06:02:00Z UMLS:C4025040|UMLS:C4280444 human_phenotype owl:Class HP:0006574 biolink:NamedThing Hepatic arteriovenous malformation hp0009lx5z Liver arteriovenous malformation HP:0006569 UMLS:C0520557|SNOMEDCT_US:84150000 human_phenotype owl:Class HP:0032500 biolink:NamedThing Exacerbated by tobacco use Applied to a sign or symptom that is worsened by smoking tobacco products. hp0009lx5z Smoking or tobacco use exacerbates symptoms|Exacerbated by smoking|Aggravated by tobacco use 2019-05-23 22:51:26+00:00 peter owl:Class HP:0000890 biolink:NamedThing Long clavicles Increased length of the clavicles. hp0009lx5z Long collarbone|Elongated clavicles HP:0006592 SNOMEDCT_US:249687007|UMLS:C0426808 human_phenotype owl:Class HP:0007450 biolink:NamedThing Increased groin pigmentation with raindrop depigmentation hp0009lx5z UMLS:C4024875 human_phenotype owl:Class HP:0025407 biolink:NamedThing Rectourethral fistula An abnormal connection (fistula) between the rectum and the urethra. hp0009lx5z Urethrorectal fistula 2017-04-23 10:24:54+00:00 HPO:probinson owl:Class HP:0008669 biolink:NamedThing Abnormal spermatogenesis Incomplete maturation or aberrant formation of the male gametes. hp0009lx5z Abnormal sperm development|Impaired spermatogenesis UMLS:C4020789|SNOMEDCT_US:4529005|UMLS:C0520933 human_phenotype owl:Class HP:0030320 biolink:NamedThing Increased intervertebral space An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. hp0009lx5z UMLS:C4022513 owl:Class HP:0001881 biolink:NamedThing Abnormal leukocyte morphology An abnormality of leukocytes. hp0009lx5z Abnormality of leukocytes Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. SNOMEDCT_US:24827003|SNOMEDCT_US:134199001|UMLS:C0152009 owl:Class HP:0100210 biolink:NamedThing Small epiphysis of the distal phalanx of the 5th toe hp0009lx5z Small end part of the outermost bone of the pinky toe|Small end part of the outermost bone of the little toe|Small end part of the outermost bone of the pinkie toe doelkens 2010-06-24T05:03:31Z UMLS:C4022211 human_phenotype owl:Class HP:0100085 biolink:NamedThing Small epiphyses of the 5th toe hp0009lx5z Small end part of the little toe bone|Small end part of the pinky toe bone|Small end part of the pinkie toe bone doelkens 2010-06-24T10:00:02Z UMLS:C4022336 human_phenotype owl:Class HP:0010567 biolink:NamedThing Y-shaped metatarsals Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly. hp0009lx5z Y-shaped long bone of foot sandra1 2009-10-16T06:50:11Z UMLS:C4023789 human_phenotype owl:Class HP:0032023 biolink:NamedThing Eosinophilic gallbladder infiltration Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination. hp0009lx5z Eosinophilic cholecystitis 2018-09-01 13:49:40+00:00 peter owl:Class HP:0012437 biolink:NamedThing Abnormal gallbladder morphology A structural anomaly of the gallbladder. hp0009lx5z Abnormal shape of gallbladder|Abnormal gallbladder structure peter 2013-11-23T01:13:40Z UMLS:C4022904 owl:Class HP:0000199 biolink:NamedThing Tongue nodules hp0009lx5z Lingual nodules UMLS:C0241438 human_phenotype owl:Class HP:0004422 biolink:NamedThing Biparietal narrowing A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). hp0009lx5z Decreased width of the skull peter 2008-03-18T09:35:00Z UMLS:C4280532|UMLS:C1854418 human_phenotype owl:Class HP:0100763 biolink:NamedThing Abnormality of the lymphatic system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. hp0009lx5z Lymphatic disease doelkens 2011-06-07T10:40:36Z HP:0003012 SNOMEDCT_US:362971004|SNOMEDCT_US:3305006|UMLS:C0024228|SNOMEDCT_US:234087005|SNOMEDCT_US:111590001|UMLS:C4021976|MSH:D008206 owl:Class HP:0007720 biolink:NamedThing Flat cornea Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. hp0009lx5z Cornea plana UMLS:C0344529|SNOMEDCT_US:204145006 human_phenotype owl:Class HP:0100691 biolink:NamedThing Abnormality of the curvature of the cornea hp0009lx5z doelkens 2011-02-18T04:58:48Z UMLS:C4021995 human_phenotype owl:Class HP:0100425 biolink:NamedThing Broad middle phalanx of the 3rd toe hp0009lx5z Broad middle 3rd toe bone UMLS:C4022102 human_phenotype owl:Class HP:0025535 biolink:NamedThing Shawl sign Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back. hp0009lx5z 2017-05-18 01:20:11+00:00 This feature may be observed with dermatomyositis and polymyositis. HPO:probinson owl:Class HP:0031804 biolink:NamedThing Premacular hemorrhage hp0009lx5z Premacular haemorrhage 2018-03-07 15:32:12+00:00 peter owl:Class HP:0025240 biolink:NamedThing Preretinal hemorrhage An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. hp0009lx5z Preretinal haemorrhage|Preretinal heme 2016-12-17 00:54:15+00:00 Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. HPO:probinson owl:Class HP:0030344 biolink:NamedThing Decreased circulating luteinizing hormone level A reduction in the circulating level of luteinizing hormone (LH). hp0009lx5z Decreased circulating luteinising hormone level UMLS:C4072890 owl:Class HP:0030339 biolink:NamedThing Decreased circulating gonadotropin concentration A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). hp0009lx5z Decreased circulating gonadotropin level UMLS:C4072887 owl:Class HP:0003919 biolink:NamedThing Sclerotic humeral metaphysis with longitudinal striations hp0009lx5z UMLS:C4025508 human_phenotype owl:Class HP:0003918 biolink:NamedThing Sclerotic humeral metaphysis hp0009lx5z Hardening of wide portion of long bone of upper arm|Stiffening of wide portion of long bone of upper arm UMLS:C4025509 human_phenotype owl:Class HP:0005617 biolink:NamedThing Bilateral camptodactyly hp0009lx5z UMLS:C4021830 human_phenotype owl:Class HP:0010534 biolink:NamedThing Transient global amnesia A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information. hp0009lx5z peter 2009-09-20T09:33:50Z SNOMEDCT_US:230736007|MSH:D020236|UMLS:C0338591 owl:Class HP:0040119 biolink:NamedThing Unilateral conductive hearing impairment hp0009lx5z HPO:skoehler UMLS:C4022428 owl:Class HP:0032450 biolink:NamedThing Positive blood arsenic test Detection of arsenic in the blood circulation. hp0009lx5z 2019-03-03 18:42:40+00:00 peter owl:Class HP:0032055 biolink:NamedThing Focal cortical dysplasia type IIIa A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). hp0009lx5z 2018-09-16 11:16:43+00:00 peter owl:Class HP:0032054 biolink:NamedThing Focal cortical dysplasia type III A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe. hp0009lx5z 2018-09-16 11:15:25+00:00 peter owl:Class HP:0004371 biolink:NamedThing Abnormality of glycosaminoglycan metabolism Abnormality of glycosaminoglycan metabolism. hp0009lx5z A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan. peter 2008-03-18T06:36:00Z UMLS:C4025330 human_phenotype owl:Class HP:0002012 biolink:NamedThing Abnormality of the abdominal organs An abnormality of the viscera of the abdomen. hp0009lx5z Gastrointestinal tract defects|Abnormality of the abdominal organs The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. UMLS:C4021764 human_phenotype owl:Class HP:0010167 biolink:NamedThing Irregular epiphyses of the toes hp0009lx5z Irregular end part of the toe bones doelkens 2009-05-29T01:34:06Z UMLS:C4023992 human_phenotype owl:Class HP:0012330 biolink:NamedThing Pyelonephritis An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. hp0009lx5z Pyelonephritis may be unilateral or bilateral and is often characterized by abdominal pain, fever, nausea, and vomiting. peter 2013-09-13T07:37:08Z SNOMEDCT_US:45816000|UMLS:C0034186|MSH:D011704 human_phenotype owl:Class HP:0010943 biolink:NamedThing Echogenic fetal bowel Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone. hp0009lx5z Echogenic bowel|Echogenic foetal bowel Echogenic fetal bowel may be observed in fetuses with normal outcomes, but may also be a marker for diseases such as cystic fibrosis, congenital infection, chromosomal anomalies, and intraamniotic bleeding. This finding can be observed on prenatal ultrasound. The echogenicity has been classified as either focal or multifocal. Grade 2 suggests that echogenicity is equal to bone whereas grade 3 suggests that it is greater. peter 2011-01-16T03:04:36Z MSH:D058535|UMLS:C2936423 human_phenotype owl:Class HP:0005246 biolink:NamedThing Giant hypertrophic gastritis A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds. hp0009lx5z Menetrier disease SNOMEDCT_US:60002000|MSH:D005758|SNOMEDCT_US:413219009|UMLS:C0017155 human_phenotype owl:Class HP:0005263 biolink:NamedThing Gastritis The presence of inflammation of the gastric mucous membrane. hp0009lx5z Stomach inflammation peter 2008-03-26T04:32:00Z SNOMEDCT_US:4556007|MEDDRA:10017853|UMLS:C0017152|MSH:D005756 human_phenotype owl:Class HP:0100378 biolink:NamedThing Absent distal phalanx of the 3rd toe Developmental aplasia of the distal phalanx of third toe. hp0009lx5z Aplasia of the distal phalanx of the 3rd toe|Absent outermost bone of the 3rd toe|Absent distal phalanx of the third toe UMLS:C4021011 human_phenotype owl:Class HP:0100362 biolink:NamedThing Aplasia of the phalanges of the 3rd toe hp0009lx5z Absent digital bone of the 3rd toe UMLS:C4022125 human_phenotype owl:Class HP:0003653 biolink:NamedThing Cellular metachromasia Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. hp0009lx5z This investigation is no longer in common use. UMLS:C4025583 human_phenotype owl:Class HP:0011020 biolink:NamedThing Abnormality of mucopolysaccharide metabolism An abnormality of the metabolism of mucopolysaccharide. hp0009lx5z peter 2011-02-23T07:58:02Z UMLS:C4023592 human_phenotype owl:Class HP:0002864 biolink:NamedThing Paraganglioma of head and neck hp0009lx5z Paragangliomas, head and neck UMLS:C1333944 human_phenotype owl:Class HP:0002668 biolink:NamedThing Paraganglioma A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. hp0009lx5z Paragangliomas|Carotid body tumours|Carotid body tumors HP:0002670|HP:0003004 UMLS:C0030421|SNOMEDCT_US:253029009|MSH:D010235|NCIT:C3308|SNOMEDCT_US:127027008|SNOMEDCT_US:803009|SNOMEDCT_US:302833002|SNOMEDCT_US:72787006 human_phenotype owl:Class HP:0001880 biolink:NamedThing Eosinophilia Increased count of eosinophils in the blood. hp0009lx5z High blood eosinophil count MSH:D004802|UMLS:C0014457 human_phenotype owl:Class HP:0001974 biolink:NamedThing Leukocytosis An abnormal increase in the number of leukocytes in the blood. hp0009lx5z High white blood count|Increased blood leukocyte number|Elevated white blood count UMLS:C0023518|MSH:D007964|SNOMEDCT_US:111583006 owl:Class HP:0020090 biolink:NamedThing Post-vaccination polio Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise. hp0009lx5z 2019-04-08 17:38:52+00:00 robinp owl:Class HP:0020085 biolink:NamedThing Infection following live vaccination An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens. hp0009lx5z 2019-04-08 17:21:47+00:00 robinp owl:Class HP:0008821 biolink:NamedThing Hypoplastic inferior ilia hp0009lx5z UMLS:C1837078 human_phenotype owl:Class HP:0032290 biolink:NamedThing Monoclonal elevation of IgG An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp0009lx5z 2019-02-12 22:37:16+00:00 Monoclonal gammopathies are associated with a clonal process that is malignant or potentially malignant. In contrast, polyclonal gammopathies may be caused by any reactive or inflammatory process, and they usually are associated with nonmalignant conditions. peter owl:Class HP:0100798 biolink:NamedThing Fingernail dysplasia An abnormality of the development of the fingernails. hp0009lx5z Abnormal fingernail development|Dysplastic fingernails If possible, a more precise term should be chosen for annotation. doelkens 2011-06-08T04:23:53Z UMLS:C4020952 owl:Class HP:0004889 biolink:NamedThing Intermittent episodes of respiratory insufficiency due to muscle weakness hp0009lx5z UMLS:C3807025 human_phenotype owl:Class HP:0002747 biolink:NamedThing Respiratory insufficiency due to muscle weakness hp0009lx5z Respiratory distress due to muscle weakness|Decreased lung function due to weak breathing muscles|Respiratory failure due to muscle weakness|Respiratory muscle weakness|Decreased respiratory function due to muscle weakness HP:0004888|HP:0004882 UMLS:C3806467 human_phenotype owl:Class HP:0006011 biolink:NamedThing Cuboidal metacarpal Severely shortened metacarpal with a cuboidal appearance. hp0009lx5z Short, cube shaped long bone of hand The metacarpals are normally tubular in appearance. UMLS:C4025093 human_phenotype owl:Class HP:0025554 biolink:NamedThing Yellow nodule A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion). hp0009lx5z 2017-07-09 13:41:25+00:00 HPO:probinson owl:Class HP:0030387 biolink:NamedThing Increased proportion of class-switched memory B cells An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. hp0009lx5z Increased proportion of CD19+CD27+IgD- cells UMLS:C4073288 owl:Class HP:0030386 biolink:NamedThing Abnormal proportion of class-switched memory B cells A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. hp0009lx5z Abnormal proportion of CD19+CD27+IgD- cells UMLS:C4072924 owl:Class HP:0001238 biolink:NamedThing Slender finger Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. hp0009lx5z Slender finger|Slender fingers|thin fingers|Narrow fingers UMLS:C1857482 human_phenotype owl:Class HP:0010874 biolink:NamedThing Tendon xanthomatosis The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). hp0009lx5z Tendon xanthomas peter 2010-08-30T11:01:16Z SNOMEDCT_US:69880002|UMLS:C0221253 human_phenotype owl:Class HP:0100747 biolink:NamedThing Macrodactyly of toe A type of Macrodactyly affecting one or several toes. hp0009lx5z Foot macrodactyly doelkens 2011-06-06T06:29:55Z MSH:C537719|UMLS:C2931596 human_phenotype owl:Class HP:0012415 biolink:NamedThing Abnormal blood gas level An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. hp0009lx5z Abnormal blood gas level peter 2013-11-10T04:59:20Z UMLS:C0476337|SNOMEDCT_US:312391003 owl:Class HP:0007367 biolink:NamedThing Atrophy/Degeneration affecting the central nervous system hp0009lx5z Atrophy/Degeneration affecting the CNS peter 2008-04-01T10:23:00Z UMLS:C4024899 human_phenotype owl:Class HP:0031645 biolink:NamedThing Saccular abdominal aortic aneurysm An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall. hp0009lx5z 2017-12-17 14:14:53+00:00 peter owl:Class HP:0005112 biolink:NamedThing Abdominal aortic aneurysm An abnormal localized widening (dilatation) of the abdominal aorta. hp0009lx5z Dilatation of the abdominal aorta peter 2008-03-25T06:33:00Z HP:0004953 UMLS:C4025248 human_phenotype owl:Class HP:0032708 biolink:NamedThing Focal aware cognitive seizure with anomia A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0032701 biolink:NamedThing Focal cognitive seizure with anomia A focal cognitive seizure characterized by anomia as the initial semiological manifestation. hp0009lx5z Anomia is the inability to name objects despite knowing what they are. peter owl:Class HP:0009921 biolink:NamedThing Duane anomaly A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction hp0009lx5z Limited eye movement from Duane anomaly|Limited eye motility from Duane anomaly|Globe retraction and deviation on adduction peter 2009-05-02T06:32:41Z HP:0001109 UMLS:C4072873|UMLS:C0013261|UMLS:C1846464|MSH:D004370|SNOMEDCT_US:60318001 owl:Class HP:0025068 biolink:NamedThing Incomitant strabismus Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort. hp0009lx5z 2016-09-26 10:25:28+00:00 HPO:probinson owl:Class HP:0004910 biolink:NamedThing Bicarbonate-wasting renal tubular acidosis hp0009lx5z Renal bicarbonate wasting|HCO3-wasting renal tubular acidosis UMLS:C1858626 human_phenotype owl:Class HP:0011388 biolink:NamedThing Enlarged cochlear aqueduct Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular. hp0009lx5z Dilated cochlear aqueduct The cochlear aqueduct surrounds the perilymphatic (periotic duct). Enlargement of the cochlear aqueduct may be seen in POU3F4 X-linked deafness with Gusher. peter 2012-03-09T07:41:47Z UMLS:C4021154 human_phenotype owl:Class HP:0000375 biolink:NamedThing Abnormal cochlea morphology An abnormality of the cochlea. hp0009lx5z Abnormality of cochlea The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain. UMLS:C4025858 human_phenotype owl:Class HP:0033191 biolink:NamedThing Increased circulating selenium concentration An increased concentration of selenium in the blood circulation. hp0009lx5z 2020-10-04 12:16:23+00:00 peter owl:Class HP:0031903 biolink:NamedThing Abnormal circulating selenium concentration Any deviation from the normal circulating concentration of selenium. hp0009lx5z Abnormal serum selenium concentration 2018-05-19 15:19:13+00:00 Selenium (Se) is an essential micronutrient that exists in the form of selenocysteine (Sec), the 21st amino acid, upon its incorporation into selenoproteins via the tRNA[Sec] encoded by Trsp. Dietary intake of the micronutrient selenium is essential for normal immune functions. Selenium is cotranslationally incorporated as the 21st amino acid, selenocysteine, into selenoproteins that function to modulate pathways involved in inflammation. peter owl:Class HP:0032835 biolink:NamedThing Neonatal seizure with bilateral symmetric automatism Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically. hp0009lx5z peter owl:Class HP:0032829 biolink:NamedThing Neonatal electro-clinical motor seizure with automatism Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features. hp0009lx5z Neonatal electroclinical motor seizure with automatism Normal and abnormal behavior in term and preterm infants may mimic ictal automatisms. peter owl:Class HP:0002160 biolink:NamedThing Hyperhomocystinemia An increased concentration of homocystine in the blood. hp0009lx5z Homocystinemia|Elevated blood homocystine Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). Hyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar. UMLS:C3806347 human_phenotype owl:Class HP:0008515 biolink:NamedThing Aplasia/Hypoplasia of the vertebrae hp0009lx5z Absent/small vertebrae|Absent/underdeveloped vertebrae peter 2008-04-04T02:30:00Z UMLS:C4024662 human_phenotype owl:Class HP:0003387 biolink:NamedThing Decreased number of large peripheral myelinated nerve fibers A reduced number of large myelinated nerve fibers. hp0009lx5z Loss of large myelinated fibers|Loss of larger myelinated nerve fibers|Loss of larger myelinated nerve fibres|Loss of large myelinated fibres|Decreased number of large peripheral myelinated nerve fibres|Depletion of large myelinated fibres|Depletion of large myelinated fibers This finding can be demonstrated by nerve biopsy. HP:0006868|HP:0007315|HP:0007031 UMLS:C1859606 human_phenotype owl:Class HP:0003380 biolink:NamedThing Decreased number of peripheral myelinated nerve fibers A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). hp0009lx5z Loss of myelinated fibers|Decreased number of large and small myelinated fibres|Loss of myelinated fibres|Decreased number of peripheral myelinated nerve fibres|Decreased number of large and small myelinated fibers This finding can be demonstrated by nerve biopsy. HP:0003386|HP:0007093|HP:0007320|HP:0007177|HP:0007135|HP:0003385|HP:0007322 UMLS:C1858285 human_phenotype owl:Class HP:0003948 biolink:NamedThing Irregular epiphyses of the elbow hp0009lx5z Irregular end part of the elbow bone UMLS:C4025486 human_phenotype owl:Class HP:0003842 biolink:NamedThing Irregular epiphyses of the upper limbs hp0009lx5z Irregular end part of upper limb bones UMLS:C4025558 human_phenotype owl:Class HP:0012850 biolink:NamedThing Small intestinal dysmotility Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. hp0009lx5z robinson 2014-06-07T09:15:02Z UMLS:C0345200|SNOMEDCT_US:253768006 human_phenotype owl:Class HP:0011167 biolink:NamedThing Focal tonic seizure A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. hp0009lx5z Local tonic seizures|Focal tonic seizures|Partial tonic seizures|Localized tonic seizure|Localised tonic seizure|Partial tonic seizure|Segmental tonic seizure The abnormal movements of dystonia resulting from co-contraction of agonist and antagonist muscles differentiates these from tonic seizures, see focal dystonic seizure. peter 2011-10-18T02:35:03Z UMLS:C0752324|MSH:D020938 human_phenotype owl:Class HP:0030381 biolink:NamedThing Increased proportion of transitional B cells An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. hp0009lx5z Increased proportion of CD19+CD38+IgM+ cells UMLS:C4072920 owl:Class HP:0030379 biolink:NamedThing Abnormal proportion of transitional B cells A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. hp0009lx5z Abnormal proportion of CD19+CD38+IgM+ cells UMLS:C4072918 owl:Class HP:0009487 biolink:NamedThing Ulnar deviation of the hand Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). hp0009lx5z Ulnar deviation of hands|Ulnar deviation of the hands doelkens 2009-01-15T10:51:52Z UMLS:C0241521|SNOMEDCT_US:249757009 human_phenotype owl:Class HP:0001193 biolink:NamedThing Ulnar deviation of the hand or of fingers of the hand hp0009lx5z UMLS:C4048199 human_phenotype owl:Class HP:0010701 biolink:NamedThing Abnormal immunoglobulin level An abnormal deviation from normal levels of immunoglobulins in blood. hp0009lx5z Abnormal immunoglobulin concentration|Abnormal serum level of immunoglobulin|Abnormal serum immunoglobulin concentration|Abnormal serum immunoglobulin levels|Immunoglobulin abnormality 'has part' some (amount and ('inheres in' some (IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal)) peter 2010-03-22T08:17:49Z HP:0100032 UMLS:C1855755 human_phenotype owl:Class HP:0009972 biolink:NamedThing Duplication of phalanx of 4th finger This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. hp0009lx5z Partial/complete duplication of phalanges of the 4th finger|Duplication of bones of the ring finger doelkens 2009-05-26T02:19:28Z UMLS:C4021359 human_phenotype owl:Class HP:0009971 biolink:NamedThing Polydactyly affecting the 4th finger hp0009lx5z Extra ring finger doelkens 2009-05-26T02:19:06Z UMLS:C4024136 human_phenotype owl:Class HP:0002921 biolink:NamedThing Abnormality of the cerebrospinal fluid An abnormality of the cerebrospinal fluid (CSF). hp0009lx5z Abnormality of the CSF|Abnormal CSF findings The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). UMLS:C0151583 human_phenotype owl:Class HP:0007392 biolink:NamedThing Excessive wrinkled skin hp0009lx5z Excessive wrinkled skin UMLS:C4024890 human_phenotype owl:Class HP:0008067 biolink:NamedThing Abnormally lax or hyperextensible skin hp0009lx5z Abnormally loose or hyperelastic skin|Abnormally loose or stretchable skin peter 2008-04-02T03:56:00Z UMLS:C4024736 human_phenotype owl:Class HP:0000817 biolink:NamedThing Poor eye contact Difficulty in looking at another person in the eye. hp0009lx5z Poor eye contact Eye contact, define as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication. UMLS:C1445953|SNOMEDCT_US:412786000 human_phenotype owl:Class HP:0000735 biolink:NamedThing Impaired social interactions Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships. hp0009lx5z Poor social interactions|Impaired social interaction|Impaired social interactions UMLS:C0150080|SNOMEDCT_US:88598008|MSH:D000067404 human_phenotype owl:Class HP:0009147 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 5th finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the outermost bone of pinkie finger|Enlarged end part of the outermost bone of pinky finger|Enlarged end part of the outermost bone of little finger peter 2008-12-22T01:39:32Z UMLS:C4024572 human_phenotype owl:Class HP:0009234 biolink:NamedThing Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal. hp0009lx5z Fused innermost bone of pinkie finger with 5th long bone of hand|Fused innermost bone of pinky finger with 5th long bone of hand|Fused innermost bone of little finger with 5th long bone of hand doelkens 2009-01-05T06:19:01Z UMLS:C4024510 human_phenotype owl:Class HP:0003199 biolink:NamedThing Decreased muscle mass hp0009lx5z Decreased muscle mass HP:0003732 UMLS:C1837108 human_phenotype owl:Class HP:0005522 biolink:NamedThing Pyridoxine-responsive sideroblastic anemia A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. hp0009lx5z Pyridoxine-responsive sideroblastic anaemia SNOMEDCT_US:191260004|UMLS:C0272027|SNOMEDCT_US:25443007 human_phenotype owl:Class HP:0001924 biolink:NamedThing Sideroblastic anemia Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). hp0009lx5z Hypersideremic anemia|Sideroblastic anaemia|Hypersideremic anaemia Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. HP:0100791 MSH:D000756|SNOMEDCT_US:41841004|UMLS:C0002896 human_phenotype owl:Class HP:0030211 biolink:NamedThing Slow pupillary light response Reduced velocity and acceleration in the pupillary light response. hp0009lx5z UMLS:C4022576 owl:Class HP:0007695 biolink:NamedThing Abnormal pupillary light reflex An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. hp0009lx5z UMLS:C1970591 human_phenotype owl:Class HP:0030254 biolink:NamedThing Nail bed hemorrhage Small areas of bleeding (hemorrhage) under the fingernail or toenail. hp0009lx5z Nail bed haemorrhage UMLS:C0877087 owl:Class HP:0009538 biolink:NamedThing Contracture of the distal interphalangeal joint of the 2nd finger Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. hp0009lx5z doelkens 2009-01-21T10:11:49Z UMLS:C4024302 human_phenotype owl:Class HP:0012674 biolink:NamedThing Aplasia of the lower vagina A failure to develop of the lower part of the vagina. hp0009lx5z Agenesis of the lower vagina|Absent lower vagina peter 2014-02-27T11:09:14Z SNOMEDCT_US:253834007|UMLS:C0431646 human_phenotype owl:Class HP:0003250 biolink:NamedThing Aplasia of the vagina Aplasia of the vagina. hp0009lx5z Congenital absence of the vagina|Absent vagina HP:0008709 SNOMEDCT_US:87380008|UMLS:C1321884|UMLS:C0220763|UMLS:C1841990|MSH:C536523|SNOMEDCT_US:248871003 human_phenotype owl:Class HP:0000539 biolink:NamedThing Abnormality of refraction An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. hp0009lx5z UMLS:C4025843 human_phenotype owl:Class HP:0032523 biolink:NamedThing Tendon thickening An abnormal increase in the thickness (diameter) of a tendon. hp0009lx5z 2019-05-26 11:35:27+00:00 peter owl:Class HP:0025182 biolink:NamedThing Localized area of pendulous skin A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region. hp0009lx5z Localised area of pendulous skin 2016-12-04 21:29:56+00:00 HPO:probinson owl:Class HP:0009297 biolink:NamedThing Osteolytic defects of the middle phalanx of the 4th finger Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger. hp0009lx5z doelkens 2009-01-08T04:59:22Z UMLS:C4024461 human_phenotype owl:Class HP:0100102 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 2nd toe hp0009lx5z Cone-shaped end part of the outermost bone of the 2nd toe doelkens 2010-06-24T10:04:20Z UMLS:C4022319 human_phenotype owl:Class HP:0010371 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 4th toe hp0009lx5z Absent/underdeveloped bones of 4th toe|Absent/small bones of 4th toe doelkens 2009-07-16T11:51:46Z UMLS:C4023875 human_phenotype owl:Class HP:0006256 biolink:NamedThing Abnormality of hand joint mobility hp0009lx5z Abnormality of hand joint mobility peter 2008-03-28T10:14:00Z UMLS:C4025076 human_phenotype owl:Class HP:0031272 biolink:NamedThing Pulmonary arterial atherosclerosis Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery. hp0009lx5z 2017-08-12 20:44:11+00:00 Pulmonary artery atherosclerosis is less common than systemic arterial atherosclerosis. peter owl:Class HP:0006193 biolink:NamedThing Thimble-shaped middle phalanges of hand The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat. hp0009lx5z Thimble-shaped middle bones of hand UMLS:C4025083 human_phenotype owl:Class HP:0007570 biolink:NamedThing Hyperkeratosis lenticularis perstans Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa. hp0009lx5z Flegel disease UMLS:C0263420|MSH:C538377|SNOMEDCT_US:28488007 human_phenotype owl:Class HP:0000962 biolink:NamedThing Hyperkeratosis Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. hp0009lx5z HP:0007523 UMLS:C0870082|MEDDRA:10020649|SNOMEDCT_US:396228006|SNOMEDCT_US:26996000|SNOMEDCT_US:399955009 owl:Class HP:0004686 biolink:NamedThing Short third metatarsal Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone. hp0009lx5z Short 3rd long bone of foot|Hypoplasia of the 3rd metatarsal bone HP:0010673 UMLS:C4021650 human_phenotype owl:Class HP:0010743 biolink:NamedThing Short metatarsal Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. hp0009lx5z Short metatarsal bones|Short metatarsals|Hypoplasia of the metatarsal bones|Short long bone of foot|Hypoplastic metatarsals|Shortened metatarsals|Short metatarsal bone This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified. doelkens 2010-04-22T04:30:18Z HP:0003092|HP:0004706|HP:0005754|HP:0001779|HP:0001865 UMLS:C1849020 human_phenotype owl:Class HP:0025605 biolink:NamedThing Lid lag on downgaze Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign. hp0009lx5z Eyelid lag|Lid lag|von Graefe sign 2018-01-13 22:37:21+00:00 HPO:probinson owl:Class HP:0031785 biolink:NamedThing Abnormal eyelid movement An abnormality in voluntary or involuntary eyelid movements or their control. hp0009lx5z 2018-01-28 12:51:02+00:00 peter owl:Class HP:0008178 biolink:NamedThing Abnormal cartilage matrix hp0009lx5z UMLS:C4024721 human_phenotype owl:Class HP:0011834 biolink:NamedThing Moyamoya phenomenon A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. hp0009lx5z Cerebral angiography shows puff-of-smoke (moyamoya) collaterals at the base of the brain. peter 2012-05-05T03:24:26Z UMLS:C4023169 human_phenotype owl:Class HP:0009145 biolink:NamedThing Abnormal cerebral artery morphology Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. hp0009lx5z Abnormality of the cerebral arteries|Abnormality of cerebral artery peter 2008-05-02T01:39:00Z UMLS:C4021520 human_phenotype owl:Class HP:0040040 biolink:NamedThing Toenail onycholysis Painless and spontaneous separation of a toenail from the nail bed. hp0009lx5z Onycholysis of toenails|Detachment of toenails HPO:skoehler UMLS:C4022476 owl:Class HP:0009220 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 4th finger Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the middle ring finger bone doelkens 2009-01-05T05:23:59Z UMLS:C4024521 human_phenotype owl:Class HP:0009399 biolink:NamedThing Ivory epiphyses of the 4th finger Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the ring finger bone doelkens 2009-01-13T01:59:12Z UMLS:C4024391 human_phenotype owl:Class HP:0003234 biolink:NamedThing Decreased plasma carnitine A decreased concentration of carnitine in the blood. hp0009lx5z Decreased plasma carnitine|Carnitine deficiency Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria. SNOMEDCT_US:421784001|UMLS:C1142132 owl:Class HP:0031483 biolink:NamedThing Reduced contraction of the left ventricular apex Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography. hp0009lx5z 2017-09-17 22:45:37+00:00 peter owl:Class HP:0031482 biolink:NamedThing Abnormal regional left ventricular contraction A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle. hp0009lx5z 2017-09-17 22:44:18+00:00 peter owl:Class HP:0008714 biolink:NamedThing Ureterovesical stenosis hp0009lx5z UMLS:C4024633 human_phenotype owl:Class HP:0000071 biolink:NamedThing Ureteral stenosis The presence of a stenotic, i.e., constricted ureter. hp0009lx5z Narrowing of the ureter SNOMEDCT_US:95574003|UMLS:C0521618 human_phenotype owl:Class HP:0003947 biolink:NamedThing Delayed elbow epiphyseal ossification A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow. hp0009lx5z Delayed maturation of the end part of the elbow bone UMLS:C4025487 human_phenotype owl:Class HP:0003840 biolink:NamedThing Delayed upper limb epiphyseal ossification A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs. hp0009lx5z Delayed maturation fo the end part of the upper limb bone UMLS:C4025560|UMLS:C4280544 human_phenotype owl:Class HP:0031248 biolink:NamedThing Palmar pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. hp0009lx5z Itchy palm 2017-08-12 13:33:52+00:00 peter owl:Class HP:0030899 biolink:NamedThing Pruritis on hand Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand. hp0009lx5z owl:Class HP:0031347 biolink:NamedThing Uterine arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus. hp0009lx5z 2017-08-27 13:59:42+00:00 peter owl:Class HP:0032219 biolink:NamedThing Increased proportion of CD4-positive T cells An elevation in the proportion of CD4-positive T cells relative to the total number of T cells. hp0009lx5z Increased proportion of CD4-positive, alpha-beta T cells|Elevated proportion of CD4-positive T cells|Increased proportion of CD4+ T cells 2019-01-21 00:48:54+00:00 peter owl:Class HP:0011270 biolink:NamedThing Duplicated tragus A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus. hp0009lx5z Accesory tragus|Tragus, duplicated It is unclear how often, or even whether, this feature which would represent a duplication of mandibular components, occurs. More common occurrences in this region would include preauricular tags and pretragial duplications of hyoid origin. peter 2011-12-18T07:58:04Z UMLS:C4021172 human_phenotype owl:Class HP:0009912 biolink:NamedThing Abnormality of the tragus An abnormality of the tragus. hp0009lx5z The tragus is the small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the auditory canal. peter 2009-05-01T03:39:56Z UMLS:C4024162 human_phenotype owl:Class HP:0012167 biolink:NamedThing Hair-pulling A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss. hp0009lx5z Trichotillomania peter 2013-02-20T07:16:10Z UMLS:C0040953|SNOMEDCT_US:17155009|MSH:D014256 human_phenotype owl:Class HP:0100716 biolink:NamedThing Self-injurious behavior Aggression towards oneself. hp0009lx5z Self-harm|Self-injurious behaviours|Self-injurious behaviour|Self-injurious behavior|Self-injurious behaviors|Self injury|Autoagression doelkens 2011-05-16T06:47:54Z UMLS:C0085271|SNOMEDCT_US:248062006|MSH:D016728 human_phenotype owl:Class HP:0003382 biolink:NamedThing Hypertrophic nerve changes hp0009lx5z UMLS:C1832776 human_phenotype owl:Class HP:0025448 biolink:NamedThing Anterior displacement of the papillary muscles Abnormally anterior location of the papillary muscles of the left ventricle. hp0009lx5z Anteriorly displaced papillary muscles 2017-04-30 11:00:35+00:00 Possible mechanisms for systolic anterior motion with anterior displacement of the papillary muscles (PM): (1) the normal posterior component of PM tension is reduced by anterior displacement of the muscle tips; (2) interposing the leaflets into the streamlines of flow causes drag forces with an anterior component; and (3) pulling up the posterior leaflet so that it meets the anterior leaflet closer to its base creates a long, overlapping residual leaflet, as seen clinically. This leaflet portion is relatively free to move anteriorly, unlike the coapted leaflet bodies that are restrained by the balance of ventricular and atrial pressures acting across them. The angle between the posterior leaflet and posterior wall is increased [PMID:7850958]. HPO:probinson owl:Class HP:0025447 biolink:NamedThing Displacement of the papillary muscles Abnormal location of the insertion of a papillary muscle into the left ventricular wall. hp0009lx5z 2017-04-30 10:59:28+00:00 HPO:probinson owl:Class HP:0010105 biolink:NamedThing Short first metatarsal Short first metatarsal bone. hp0009lx5z Short 1st long bone of foot|First metatarsals hypoplastic|First metatarsal hypoplasia doelkens 2009-05-29T12:42:09Z HP:0004680 UMLS:C1841688 human_phenotype owl:Class HP:0009053 biolink:NamedThing Distal lower limb muscle weakness Reduced strength of the distal musculature of the legs. hp0009lx5z Muscle weakness, lower limb, distal|Distal muscle weakness in lower limbs This finding can be due to peripheral neuropathy. HP:0009035|HP:0003485 UMLS:C1836450 human_phenotype owl:Class HP:0031381 biolink:NamedThing Decreased lymphocyte proliferation in response to mitogen A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA). hp0009lx5z Reduced lymphocyte proliferation to mitogen 2017-09-02 15:57:05+00:00 peter owl:Class HP:0012284 biolink:NamedThing Small proximal tibial epiphyses Reduced size of the proximal epiphysis of the tibia. hp0009lx5z Small end part of innermost shankbone|Small end part of innermost shinbone peter 2013-04-09T07:36:38Z UMLS:C4022969 human_phenotype owl:Class HP:0005864 biolink:NamedThing Pseudoarthrosis A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint"). hp0009lx5z Pseudoarthroses SNOMEDCT_US:410818009|MSH:D011542|UMLS:C0033785|SNOMEDCT_US:31511007 human_phenotype owl:Class HP:0006565 biolink:NamedThing Increased hepatocellular lipid droplets An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. hp0009lx5z Lipid droplets, rich in triglycerides and cholesterol esters, are cellular lipid storage organelles. UMLS:C4025021 human_phenotype owl:Class HP:0011444 biolink:NamedThing Decorticate rigidity A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus. hp0009lx5z Decorticate posturing peter 2012-03-18T03:30:10Z UMLS:C0231521|SNOMEDCT_US:36423000|MSH:D003655 human_phenotype owl:Class HP:0002063 biolink:NamedThing Rigidity Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. hp0009lx5z Muscle rigidity|Rigidity Rigidity is often a manifestation of basal ganglia diseases. UMLS:C0026837|SNOMEDCT_US:16046003|MSH:D009127 human_phenotype owl:Class HP:0005520 biolink:NamedThing Chronic disseminated intravascular coagulation A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced. hp0009lx5z Compensated disseminated intravascular coagulation|Chronic consumption coagulopathy UMLS:C1862184 human_phenotype owl:Class HP:0005521 biolink:NamedThing Disseminated intravascular coagulation Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. hp0009lx5z DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced. MSH:D004211|UMLS:C0012739|SNOMEDCT_US:67406007 human_phenotype owl:Class HP:0009562 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 2nd finger Uneven (irregular) increase in bone density of the distal phalanx of the second finger. hp0009lx5z Uneven increase in bone density in the outermost bone of the 2nd finger doelkens 2009-01-28T04:16:02Z UMLS:C4024290 human_phenotype owl:Class HP:0000971 biolink:NamedThing Abnormal sweat gland morphology Any structural abnormality of the sweat gland. hp0009lx5z Abnormality of the sweat gland|Abnormalities of sweating|Sweat gland disease MSH:D013543|UMLS:C4020881|UMLS:C0038986|SNOMEDCT_US:88232005|UMLS:C0262643 human_phenotype owl:Class HP:0011138 biolink:NamedThing Abnormality of skin adnexa morphology An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. hp0009lx5z Abnormal skin appendage peter 2011-06-19T06:25:34Z UMLS:C4023518 human_phenotype owl:Class HP:0032850 biolink:NamedThing Focal aware cognitive seizure with expressive dysphasia/aphasia A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0012605 biolink:NamedThing Hypernatriuria An increased concentration of sodium(1+) in the urine. hp0009lx5z Increased urinary sodium peter 2014-01-16T06:22:44Z HP:0003608 UMLS:C3671887 human_phenotype owl:Class HP:0012603 biolink:NamedThing Abnormal urine sodium concentration An abnormal concentration of sodium in the urine. hp0009lx5z Abnormal urine Na+ levels|Abnormal urine Na concentration peter 2014-01-16T06:19:27Z UMLS:C4022825 human_phenotype owl:Class HP:0500047 biolink:NamedThing Nasolacrimal sac lymphoma A type of lymphoma that involves the nasolacrimal sac. hp0009lx5z 2018-02-12 18:31:38+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:3000066 biolink:NamedThing Abnormal lacrimal sac morphology An abnormality of a lacrimal sac. hp0009lx5z Abnormality of lacrimal sac vasilevs 2015-08-07T03:38:31Z UMLS:C4073273 human_phenotype owl:Class HP:0009455 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 3rd finger Fusion of the proximal phalanx of the 3rd finger with another bone. hp0009lx5z Fused innermost bone of middle finger doelkens 2009-01-14T04:33:41Z UMLS:C4024350 human_phenotype owl:Class HP:0006060 biolink:NamedThing Tombstone-shaped proximal phalanges hp0009lx5z Tombstone-shaped innermost digital bones UMLS:C1862420 human_phenotype owl:Class HP:0009157 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 5th finger Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the innermost bone of pinkie finger|Increased bone density of end part of the innermost bone of pinky finger|Ivory epiphysis of the proximal phalanx of the little finger|Increased bone density of end part of the innermost bone of little finger peter 2008-12-22T05:50:39Z UMLS:C4024567|UMLS:C4020782 human_phenotype owl:Class HP:0010274 biolink:NamedThing Ivory epiphyses of the proximal phalanges of the hand Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. hp0009lx5z Increased bone density of end part of the innermost hand bones doelkens 2009-07-06T04:25:12Z UMLS:C4023927 human_phenotype owl:Class HP:0000771 biolink:NamedThing Gynecomastia Abnormal development of large mammary glands in males resulting in breast enlargement. hp0009lx5z Enlarged male breast|Gynaecomastia HP:0000770 SNOMEDCT_US:4754008|MSH:D006177|UMLS:C0018418 human_phenotype owl:Class HP:0000389 biolink:NamedThing Chronic otitis media Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. hp0009lx5z Chronic infections of the middle ear|Chronic ear infection|Chronic middle ear infection|Otitis media, chronic HP:0008524 SNOMEDCT_US:21186006|UMLS:C0271441|UMLS:C0743359 human_phenotype owl:Class HP:0000388 biolink:NamedThing Otitis media Inflammation or infection of the middle ear. hp0009lx5z Middle ear infection MSH:D010033|SNOMEDCT_US:65363002|UMLS:C0029882 human_phenotype owl:Class HP:0009967 biolink:NamedThing Complete duplication of the proximal phalanx of the 3rd finger Complete duplication of the third proximal phalanx of hand. hp0009lx5z Complete duplication of the innermost bone of the 3rd finger doelkens 2009-05-26T12:49:35Z UMLS:C4024139 human_phenotype owl:Class HP:0009964 biolink:NamedThing Duplication of the proximal phalanx of the 3rd finger Partial or complete duplication of the third proximal phalanx of hand. hp0009lx5z Duplication of the proximal bone of the middle finger|Partial/complete duplication of the proximal phalanx of the 3rd finger doelkens 2009-05-26T12:46:36Z UMLS:C4021361 human_phenotype owl:Class HP:0010435 biolink:NamedThing Short middle phalanx of the 2nd toe Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia. hp0009lx5z Short middle phalanx of the second toe|Short middle 2nd toe bone|Hypoplastic/small middle phalanx of the 2nd toe doelkens 2009-07-16T04:28:48Z UMLS:C4021266 human_phenotype owl:Class HP:0010431 biolink:NamedThing Short phalanx of the 2nd toe Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia. hp0009lx5z Short phalanx of the second toe|Hypoplastic/small phalanges of the 2nd toe|Short 2nd toe bone doelkens 2009-07-16T04:27:29Z HP:0100365 UMLS:C4021269 human_phenotype owl:Class HP:0011913 biolink:NamedThing Lumbar hypertrichosis Excessive, increased hair growth located in the lumbar region. hp0009lx5z peter 2012-06-05T10:13:10Z UMLS:C4023130 human_phenotype owl:Class HP:0020101 biolink:NamedThing Invasive fungal infection Fungal infection characterized by invasion of host tissues. hp0009lx5z 2019-04-08 19:11:15+00:00 Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, haematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents. robinp owl:Class HP:0020100 biolink:NamedThing Unusual fungal infection An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent. hp0009lx5z 2019-04-08 19:05:28+00:00 robinp owl:Class HP:0009913 biolink:NamedThing Aplasia/Hypoplasia of the tragus Aplasia or developmental hypoplasia of the tragus. hp0009lx5z Absent/underdeveloped tragus|Absent/small tragus peter 2009-05-01T03:43:12Z UMLS:C4024161 human_phenotype owl:Class HP:0020199 biolink:NamedThing Decreased circulating 18-hydroxycortisone level A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation. hp0009lx5z robinp 2019-09-05 14:21:53+00:00 owl:Class HP:0020198 biolink:NamedThing Abnormal circulating 18-hydroxycorticosterone level Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation. hp0009lx5z robinp 2019-09-05 14:20:11+00:00 owl:Class HP:0100292 biolink:NamedThing Amyloidosis of peripheral nerves The presence of amyloid deposition in the nerves of the peripheral nervous system. hp0009lx5z doelkens 2010-08-10T01:46:51Z UMLS:C4022162 human_phenotype owl:Class HP:0008288 biolink:NamedThing Nonketotic hyperglycinemia hp0009lx5z MSH:D020158|SNOMEDCT_US:237939006|UMLS:C0751748 human_phenotype owl:Class HP:0002154 biolink:NamedThing Hyperglycinemia An elevated concentration of glycine in the blood. hp0009lx5z Hyperglycinaemia|Elevated blood glycine levels Normal blood glycine levels are around 200-250 micromole per liter. UMLS:C0268559|SNOMEDCT_US:64654004 human_phenotype owl:Class HP:0009504 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 2nd finger A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. hp0009lx5z Cone-shaped end part of the outermost bone of the index finger doelkens 2009-01-16T01:11:04Z UMLS:C4024326 human_phenotype owl:Class HP:0010248 biolink:NamedThing Cone-shaped epiphyses of the distal phalanges of the hand hp0009lx5z Cone-shaped end part of the outermost hand bones doelkens 2009-07-06T04:23:06Z UMLS:C4023951 human_phenotype owl:Class HP:0005526 biolink:NamedThing Lymphoid leukemia A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. hp0009lx5z Lymphoid leukaemia SNOMEDCT_US:32280000|UMLS:C0023448|SNOMEDCT_US:188725004|MSH:D007945 human_phenotype owl:Class HP:0001909 biolink:NamedThing Leukemia A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. hp0009lx5z Leukaemia|Blood cancer HP:0005519|HP:0006726 SNOMEDCT_US:93143009|UMLS:C0023418|SNOMEDCT_US:129154003|UMLS:C0376545|SNOMEDCT_US:87163000|MSH:D019337|SNOMEDCT_US:269475001|MSH:D007938 human_phenotype owl:Class HP:0009642 biolink:NamedThing Broad distal phalanx of the thumb Increased width of the distal phalanx of thumb. hp0009lx5z Wide distal phalanx of thumb|Broad outermost bone of the thumb|Broad terminal thumb phalanx|Wide outermost bone of thumb doelkens 2009-01-29T05:19:33Z HP:0004088|HP:0006198 UMLS:C1863402 human_phenotype owl:Class HP:0032572 biolink:NamedThing Abnormal urinary nucleobase concentration A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U). hp0009lx5z peter owl:Class HP:0003930 biolink:NamedThing Lytic defects of humeral diaphysis hp0009lx5z Humeral diaphyseal lysis UMLS:C4021705 human_phenotype owl:Class HP:0040079 biolink:NamedThing Irregular dentition hp0009lx5z Irregular teeth HPO:skoehler UMLS:C1856765 owl:Class HP:0000164 biolink:NamedThing Abnormality of the dentition Any abnormality of the teeth. hp0009lx5z Dental anomalies|Tooth abnormalities|Abnormal teeth|Abnormality of the teeth|Dental abnormality|Dental problem|Dental problems|Abnormal dentition|Dental abnormalities Any abnormality of the primary (deciduous) or permanent teeth. HP:0006348|HP:0006296|HP:0001567 UMLS:C0262444|MSH:D014071|SNOMEDCT_US:422775003|UMLS:C0040427 owl:Class HP:0004022 biolink:NamedThing Sclerotic radial metaphysis with longitudinal striations hp0009lx5z UMLS:C4025438 human_phenotype owl:Class HP:0005959 biolink:NamedThing Impaired gluconeogenesis An impairment of gluconeogenesis. hp0009lx5z Gluconeogenesis impaired UMLS:C3279336 human_phenotype owl:Class HP:0011914 biolink:NamedThing Thoracic hypertrichosis Excessive, increased hair growth located in the thoracic region. hp0009lx5z peter 2012-06-05T10:13:14Z UMLS:C4023129 human_phenotype owl:Class HP:0033881 biolink:NamedThing Arcuate vein intimal/medial myxomatous degeneration Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. hp0009lx5z Myxomatous change within arcuate vein intima/media 2021-06-23 19:47:34+00:00 peter owl:Class HP:0033879 biolink:NamedThing Abnormal arcuate vein intima/media morphology Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. hp0009lx5z 2021-06-23 19:33:08+00:00 peter owl:Class HP:0001119 biolink:NamedThing Keratoglobus Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. hp0009lx5z UMLS:C3887531 human_phenotype owl:Class HP:0009690 biolink:NamedThing Fragmentation of thumb epiphysis Epiphysis of the thumb having multiple bony fragments. hp0009lx5z Fragmentation of the epiphyses of the thumb|Fragmentation of end part of long bone of thumb doelkens 2009-01-30T09:20:16Z UMLS:C4021405 human_phenotype owl:Class HP:0010232 biolink:NamedThing Fragmentation of the epiphyses of the phalanges of the hand Fragmented appearance of the epiphyses of the phalanges of the fingers. hp0009lx5z Fragmentation of the epiphyses of the fingers|Fragmentation of end part of finger bones doelkens 2009-07-06T03:31:52Z HP:0009363 UMLS:C4021308 human_phenotype owl:Class HP:0500051 biolink:NamedThing Retinopathy of prematurity stage 2 The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous. hp0009lx5z ROP stage 2 2018-02-19 18:30:02+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0005686 biolink:NamedThing Patchy osteosclerosis Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Patchy increase of bone mineral density|Uneven increase in bone density UMLS:C1855845 human_phenotype owl:Class HP:0003933 biolink:NamedThing Sclerosis of humeral diaphysis hp0009lx5z Increased bone density in shaft of long bone in upper arm UMLS:C4025496 human_phenotype owl:Class HP:0007475 biolink:NamedThing Congenital bullous ichthyosiform erythroderma An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. hp0009lx5z Epidermolytic hyperkeratosis|Bullous congenital ichthyosiform erythroderma Epidermolytic hyperkeratosis can refer to the disease caused by mutations in the genes keratin 1 or keratin 10, but is here used to refer to the characteristic skin manifestations as a phenotypic feature. SNOMEDCT_US:254167000|UMLS:C0079153|SNOMEDCT_US:239071005|MSH:D017488 owl:Class HP:0007431 biolink:NamedThing Congenital ichthyosiform erythroderma An ichthyosiform abnormality of the skin with congenital onset. hp0009lx5z Congenital ichthyosis|Ichthyosis, congenital HP:0007484|HP:0007478 UMLS:C0079583|SNOMEDCT_US:268282005|SNOMEDCT_US:254156001|MSH:D016113 human_phenotype owl:Class HP:0001009 biolink:NamedThing Telangiectasia Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. hp0009lx5z Telangiectases|Cutaneous telangiectasia|Spider veins HP:0001079 SNOMEDCT_US:112641009|UMLS:C1138421|UMLS:C0039446|SNOMEDCT_US:247479008|MSH:D013684 human_phenotype owl:Class HP:0011276 biolink:NamedThing Vascular skin abnormality hp0009lx5z Vascular abnormalities restricted to skin|Skin vascular malformation peter 2011-12-29T08:52:53Z MSH:D017445|SNOMEDCT_US:11263005|UMLS:C1842892|UMLS:C0162819 human_phenotype owl:Class HP:0009646 biolink:NamedThing Patchy sclerosis of the distal phalanx of the thumb An uneven increase in bone density of the distal phalanx of the thumb. hp0009lx5z Uneven increase in bone density in the outermost bone of the thumb doelkens 2009-01-29T05:19:33Z UMLS:C4024258 human_phenotype owl:Class HP:0004306 biolink:NamedThing Abnormal endocardium morphology An abnormality of the endocardium. hp0009lx5z Abnormality of the endocardium|Abnormality of the endomycoardium peter 2008-02-20T01:23:00Z HP:0005260 UMLS:C4021662 owl:Class HP:0033263 biolink:NamedThing Absent platelet dense granules Lack of platelet dense granules, a type of platelet organelles. hp0009lx5z Absent platelet dense bodies 2020-11-28 15:08:55+00:00 peter owl:Class HP:0012530 biolink:NamedThing Abnormal number of dense granules A deviation from the normal count of dense granules per thrombocyte. hp0009lx5z peter 2013-12-15T09:12:55Z UMLS:C4022861 owl:Class HP:0010372 biolink:NamedThing Broad phalanges of the 4th toe hp0009lx5z Broad bones of the 4th toe doelkens 2009-07-16T11:51:46Z UMLS:C4023874 human_phenotype owl:Class HP:0009294 biolink:NamedThing Absent middle phalanx of 4th finger Absence of the middle phalanx of the ring (4th) finger. hp0009lx5z Aplasia of the middle phalanx of the 4th finger|Absent middle bone of 4th finger doelkens 2009-01-08T04:11:35Z UMLS:C4021498 human_phenotype owl:Class HP:0032128 biolink:NamedThing Increased proportion of plasmablasts An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells. hp0009lx5z 2018-11-22 13:02:17+00:00 peter owl:Class HP:0009055 biolink:NamedThing Generalized limb muscle atrophy Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. hp0009lx5z Generalised muscle wasting|Generalized muscle atrophy, proximal and distal|Generalised limb muscle atrophy|Generalized muscle wasting|Generalised muscle atrophy, proximal and distal HP:0003788 UMLS:C1838114 human_phenotype owl:Class HP:0003700 biolink:NamedThing Generalized amyotrophy Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. hp0009lx5z Muscle atrophy, generalised|Diffuse muscle atrophy|Diffuse muscle wasting|Generalised muscle atrophy|Muscular atrophy, generalised|Muscular atrophy, generalized|Generalized muscle degeneration|Diffuse skeletal muscle wasting|Diffuse amyotrophy|Generalised muscle degeneration|Muscle atrophy, generalized|Muscle atrophy, diffuse|Generalised amyotrophy|Generalized muscle atrophy HP:0009043|HP:0008987|HP:0009068|HP:0008977|HP:0009052|HP:0008996|HP:0009074 UMLS:C1389113 human_phenotype owl:Class HP:0012847 biolink:NamedThing Epilepsia partialis continua Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years). hp0009lx5z Kojevnikov's epilepsia|Kozhevnikov's epilepsia|Epilepsia partialis continua of Kojevnikov The focal motor features may exhibit a Jacksonian march and a post-ictal (Todd's) paresis may be seen in the affected body part. peter 2014-06-06T08:09:22Z MSH:D017036|SNOMEDCT_US:241006|UMLS:C0085543 human_phenotype owl:Class HP:0032663 biolink:NamedThing Focal motor status epilepticus Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. hp0009lx5z Including aware and unaware focal motor status epilepticus, but note that hyperkinetic status epilepticus (of focal onset) is classified separately. peter owl:Class HP:0410147 biolink:NamedThing Eosinophilic infiltration in the stomach mucosa Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia. hp0009lx5z Eosinophilic gastritis 2018-03-12 20:54:48+00:00 owl:Class HP:0003013 biolink:NamedThing Bulging epiphyses A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). hp0009lx5z Bulging end part of bone UMLS:C1833329 human_phenotype owl:Class HP:0012775 biolink:NamedThing Stellate iris A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel. hp0009lx5z peter 2014-04-07T03:54:41Z UMLS:C4022727 human_phenotype owl:Class HP:0008034 biolink:NamedThing Abnormal iris pigmentation Abnormal pigmentation of the iris. hp0009lx5z UMLS:C1834387 human_phenotype owl:Class HP:0012492 biolink:NamedThing Cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of a cerebral artery. hp0009lx5z Narrowing of a cerebral artery peter 2013-11-30T08:00:55Z UMLS:C1504438 human_phenotype owl:Class HP:0031150 biolink:NamedThing Vitreomacular adhesion Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions. hp0009lx5z VMA 2017-06-18 13:09:52+00:00 peter owl:Class HP:0032259 biolink:NamedThing Chronic tinea infection The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect. hp0009lx5z 2019-01-27 18:30:04+00:00 Tinea is usually followed by a Latin term that designates the involved site, such as tinea corporis and tinea pedis. Tinea versicolor (now called pityriasis versicolor) is not caused by dermatophytes but rather by yeasts of the genus Malassezia. Tinea unguium is more commonly known as onychomycosis. Dermatophytes are usually limited to involvement of hair, nails, and stratum corneum, which are inhospitable to other infectious agents. Dermatophytes include three genera: Trichophyton, Microsporum, and Epidermophyton. peter owl:Class HP:0031035 biolink:NamedThing Chronic infection Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. hp0009lx5z 2017-06-14 16:40:44+00:00 robinp owl:Class HP:0030291 biolink:NamedThing Lower-limb metaphyseal irregularity Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. hp0009lx5z UMLS:C4022534 owl:Class HP:0010387 biolink:NamedThing Osteolytic defects of the phalanges of the 5th toe hp0009lx5z doelkens 2009-07-16T11:52:18Z UMLS:C4023865 human_phenotype owl:Class HP:0012808 biolink:NamedThing Abnormal nasal base An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. hp0009lx5z Anomaly of nasal base|Anomaly of base of nose|Abnormality of base of nose|Deformity of nasal base|Abnormal nasal base|Malformation of nasal base|Deformity of base of nose|Malformation of base of nose hecht 2014-05-25T05:56:47Z UMLS:C4022718 human_phenotype owl:Class HP:0025624 biolink:NamedThing Reduced proportion of CD4+ effector memory T cells An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z Decreased proportion of CD4+ effector memory T cells|Decreased proportion of CD4-positive effector memory T cells|Decreased proportion of effector memory CD4-positive, alpha-beta T cells 2019-04-09 00:13:00+00:00 HPO:probinson HP:0410387 owl:Class HP:0032218 biolink:NamedThing Decreased proportion of CD4-positive T cells A reduction in the proportion of CD4-positive T cells relative to the total number of T cells. hp0009lx5z Reduced proportion of CD4-positive cells|Decreased proportion of CD4+ cells|Decreased proportion of CD4-positive, alpha-beta T cells 2019-01-21 00:48:24+00:00 peter owl:Class HP:0006508 biolink:NamedThing Abnormality of tibial epiphyses hp0009lx5z Abnormality of end part of shinbone peter 2008-03-29T09:19:00Z UMLS:C4025030 human_phenotype owl:Class HP:0003574 biolink:NamedThing Positive regitine blocking test A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. hp0009lx5z Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and bood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites. UMLS:C4025594 human_phenotype owl:Class HP:0002640 biolink:NamedThing Hypertension associated with pheochromocytoma A type of hypertension associated with pheochromocytoma. hp0009lx5z UMLS:C4025693 human_phenotype owl:Class HP:0000242 biolink:NamedThing Parietal bossing Parietal bossing is a marked prominence in the parietal region. hp0009lx5z Bossing of parietal bone|Biparietal bossing HP:0004641 UMLS:C1857126 human_phenotype owl:Class HP:0007592 biolink:NamedThing Aplasia/Hypoplastia of the eccrine sweat glands Absence or developmental hypoplasia of the eccrine sweat glands. hp0009lx5z Hypoplastic-absent eccrine sweat glands UMLS:C1844618 human_phenotype owl:Class HP:0011135 biolink:NamedThing Aplasia/Hypoplasia of the sweat glands Absence or developmental hypoplasia of the sweat glands. hp0009lx5z Absent/small sweat glands|Absent/underdeveloped sweat glands peter 2011-06-19T02:01:50Z UMLS:C4023520 human_phenotype owl:Class HP:0030392 biolink:NamedThing Choroid plexus carcinoma Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. hp0009lx5z MSH:C562943|SNOMEDCT_US:88252006|UMLS:C0431109 owl:Class HP:0033469 biolink:NamedThing 10-minute APGAR score of 1 hp0009lx5z 2021-01-09 22:45:27+00:00 peter owl:Class HP:0033467 biolink:NamedThing Low 10-minute APGAR score A normal APGAR score can be coded as 'not Low 10-minute APGAR score'. hp0009lx5z 2021-01-09 22:45:03+00:00 peter owl:Class HP:0003537 biolink:NamedThing Hypouricemia An abnormally low level of uric acid in the blood. hp0009lx5z Low blood uric acid levels UMLS:C0221333|SNOMEDCT_US:4519003 owl:Class HP:0010932 biolink:NamedThing Abnormal circulating nucleobase concentration An abnormality of a nucleobase metabolic process. hp0009lx5z Abnormal nucleoside levels This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. peter 2011-01-06T10:46:17Z UMLS:C4023643|UMLS:C4020762 human_phenotype owl:Class HP:0025207 biolink:NamedThing Triggered by dehydration Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water. hp0009lx5z Triggered by dehydration|Dehydration triggered symptoms 2016-12-10 13:45:29+00:00 HPO:probinson owl:Class HP:0005248 biolink:NamedThing Intrahepatic biliary atresia Atresia in the intrahepatic bile duct. hp0009lx5z Bile duct paucity|Intrahepatic atresia of biliary duct UMLS:C1855284 human_phenotype owl:Class HP:0005912 biolink:NamedThing Biliary atresia Atresia of the biliary tree. hp0009lx5z Biliary duct atresia peter 2008-03-27T02:07:00Z SNOMEDCT_US:77480004|MSH:D001656|SNOMEDCT_US:82821008|UMLS:C0005411 human_phenotype owl:Class HP:0004389 biolink:NamedThing Intestinal pseudo-obstruction A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. hp0009lx5z Intestinal pseudoobstruction peter 2008-03-18T09:03:00Z SNOMEDCT_US:235825006|SNOMEDCT_US:715201005|MSH:D007418|UMLS:C0021847 human_phenotype owl:Class HP:0008388 biolink:NamedThing Abnormal toenail morphology An anomaly of the toenail. hp0009lx5z Abnormality of the toenails|Abnormality of the toenail SNOMEDCT_US:700189007|UMLS:C3839753 owl:Class HP:0100866 biolink:NamedThing Short iliac bones Underdevelopment of the iliac bones. hp0009lx5z Short pelvis bones doelkens 2011-11-30T11:11:24Z UMLS:C1849063 human_phenotype owl:Class HP:0010752 biolink:NamedThing Cleft mandible Midline deficiency of the mandible and some or all overlying tissues. hp0009lx5z Mandibular cleft|Cleft lower jaw sdoelken 2010-04-23T10:32:09Z SNOMEDCT_US:92822004|UMLS:C0685786 human_phenotype owl:Class HP:0010753 biolink:NamedThing Midline defect of mandible hp0009lx5z Midline cleft of mandible sdoelken 2010-04-23T10:32:46Z UMLS:C4023714 human_phenotype owl:Class HP:0100271 biolink:NamedThing Hyponasal speech Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion. hp0009lx5z doelkens 2010-07-27T09:57:48Z UMLS:C4022173 human_phenotype owl:Class HP:0010076 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the hallux hp0009lx5z Absent/small outermost big toe bone|Absent/underdeveloped outermost big toe bone doelkens 2009-05-29T12:16:28Z UMLS:C4024069 human_phenotype owl:Class HP:0002576 biolink:NamedThing Intussusception An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. hp0009lx5z Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel. MEDDRA:10022863|SNOMEDCT_US:49723003|UMLS:C0021933|SNOMEDCT_US:35327006|MSH:D007443 human_phenotype owl:Class HP:0005345 biolink:NamedThing Abnormal vena cava morphology An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. hp0009lx5z Abnormality of the vena cava peter 2008-03-26T06:40:00Z HP:0030971 UMLS:C4025210 human_phenotype owl:Class HP:0025379 biolink:NamedThing Anti-thyroid peroxidase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. hp0009lx5z 2017-04-20 10:42:32+00:00 Thyroid peroxidase (TPO) antibody positivity is found in most patients with chronic lymphocytic thyroiditis (Hashimoto disease) and over half of patients with Graves disease. HPO:probinson owl:Class HP:0009013 biolink:NamedThing Congenital absence of gluteal muscles hp0009lx5z UMLS:C2930932|MSH:C535561 human_phenotype owl:Class HP:0001471 biolink:NamedThing Aplasia/Hypoplasia of the musculature of the pelvis hp0009lx5z Absent/small pelvis muscles|Absent/underdeveloped pelvis muscles peter 2008-04-07T10:56:00Z UMLS:C4025766 human_phenotype owl:Class HP:0031622 biolink:NamedThing Brown anomaly An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result. hp0009lx5z Brown syndrome 2017-12-16 13:37:10+00:00 peter owl:Class HP:0010770 biolink:NamedThing Pilonidal fistula hp0009lx5z sdoelken 2010-04-29T09:55:15Z SNOMEDCT_US:47639008|UMLS:C0031925|MSH:D010864 human_phenotype owl:Class HP:0010767 biolink:NamedThing Sacrococcygeal pilonidal abnormality The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. hp0009lx5z sdoelken 2010-04-29T09:45:21Z UMLS:C4023709 human_phenotype owl:Class HP:0000124 biolink:NamedThing Renal tubular dysfunction Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. hp0009lx5z Renal tubular defect|Renal tubular disease|Abnormal function of filtrating structures in kidney UMLS:C0151747|SNOMEDCT_US:95568003 human_phenotype owl:Class HP:0004258 biolink:NamedThing Small trapezoid bone Underdevelopment of the trapezoid. hp0009lx5z UMLS:C4025387 human_phenotype owl:Class HP:0004256 biolink:NamedThing Abnormality of the trapezoid bone hp0009lx5z UMLS:C4025388 human_phenotype owl:Class HP:0011890 biolink:NamedThing Prolonged bleeding following procedure Prolonged or protracted bleeding following an invasive procedure or intervention. hp0009lx5z Prolonged bleeding following procedure peter 2012-06-02T11:33:38Z UMLS:C4023142 human_phenotype owl:Class HP:0032716 biolink:NamedThing Focal impaired awareness non-motor seizure A focal non-motor seizure characterized by impaired awareness at some point during the seizure. hp0009lx5z Focal non-motor impaired awareness seizure peter owl:Class HP:0033217 biolink:NamedThing Perihilar glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. hp0009lx5z 2020-10-24 12:08:52+00:00 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. peter owl:Class HP:0033216 biolink:NamedThing Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. hp0009lx5z 2020-10-24 11:31:00+00:00 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. peter owl:Class HP:0003352 biolink:NamedThing Endopolyploidy on chromosome studies of bone marrow An increase in the number of chromosome sets per cell in bone marrow cells. hp0009lx5z Endopolyploidy is caused by replication without cell division. UMLS:C4025624 human_phenotype owl:Class HP:0002916 biolink:NamedThing Abnormality of chromosome segregation An abnormality of chromosome segregation. hp0009lx5z UMLS:C4025670 human_phenotype owl:Class HP:0000584 biolink:NamedThing Punctate corneal epithelial erosions hp0009lx5z UMLS:C1832170 human_phenotype owl:Class HP:0200020 biolink:NamedThing Corneal erosion An erosion or abrasion of the cornea's outermost layer of epithelial cells. hp0009lx5z Damage to outer layer of the cornea of the eye sebastiankohler 2010-06-16T01:50:48Z UMLS:C0392163|SNOMEDCT_US:50792001 human_phenotype owl:Class HP:0009273 biolink:NamedThing Deviation of the 4th finger Displacement of the 4th finger from its normal position. hp0009lx5z Deviation of the ring finger doelkens 2009-01-07T04:03:23Z UMLS:C4024477 human_phenotype owl:Class HP:0032369 biolink:NamedThing Alkalemia An abnormally high blood pH (usually defined as 7.41 or above). hp0009lx5z 2019-02-23 18:42:24+00:00 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. peter owl:Class HP:0000666 biolink:NamedThing Horizontal nystagmus Nystagmus consisting of horizontal to-and-fro eye movements. hp0009lx5z Nystagmus, horizontal SNOMEDCT_US:81756001|UMLS:C0271385|MSH:D009759 human_phenotype owl:Class HP:0010813 biolink:NamedThing Abnormal number of hair whorls More than two clockwise hair whorls. hp0009lx5z Extra hair swirls|Supernumary hair swirls|Double crown (hair whorls)|Abnormal number of hair swirls|Supernumary hair whorl|Extra hair whorl|Abnormal number of hair whorls Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise. peter 2010-07-05T11:12:26Z UMLS:C4023695 human_phenotype owl:Class HP:0010721 biolink:NamedThing Abnormal hair whorl An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). hp0009lx5z Abnormal whorl of hair|Abnormal hair whorls|Abnormal hair whorl sdoelken 2010-04-20T10:05:04Z UMLS:C3280303 human_phenotype owl:Class HP:0003989 biolink:NamedThing Notched ulna hp0009lx5z UMLS:C4025462 human_phenotype owl:Class HP:0005736 biolink:NamedThing Short tibia Underdevelopment (reduced size) of the tibia. hp0009lx5z Shortening of the shinbone|Hypoplastic tibia|Short skankbone|Shortening of the tibia|Short shinbone|Hypoplasia of the tibia|Short tibiae|Shortening of the shankbone HP:0002993|HP:0006436|HP:0006445 UMLS:C1855277|UMLS:C1850259 human_phenotype owl:Class HP:0020206 biolink:NamedThing Simple ear The pinna has fewer folds and grooves than usual. hp0009lx5z robinp 2019-12-23 20:41:28+00:00 owl:Class HP:0032139 biolink:NamedThing Reduced isohemagglutinin level Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). hp0009lx5z Decreased natural antibody to blood group agents|Partial absence of isohemagglutinins 2018-11-22 15:04:35+00:00 The determination of isohemagglutinins can be used to evaluate an individual's ability to mount an immune response except in persons with blood group AB. peter owl:Class HP:0410292 biolink:NamedThing Abnormal isohemagglutinin level An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). hp0009lx5z Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)|Abnormal level of natural antibody to blood group agents 2019-01-28 21:28:37+00:00 owl:Class HP:0000090 biolink:NamedThing Nephronophthisis Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. hp0009lx5z juvenile nephronophthisis Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. HP:0004748 UMLS:C0687120|SNOMEDCT_US:204958008 human_phenotype owl:Class HP:0032760 biolink:NamedThing Focal sensory seizure with hot-cold sensations A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation. hp0009lx5z peter owl:Class HP:0002213 biolink:NamedThing Fine hair Hair that is fine or thin to the touch. hp0009lx5z Thin hair|Thin hair texture|Thinned hair|Fine hair shaft|Thin hair shaft|Fine hair texture|Fine hair HP:0200132 UMLS:C0423867|SNOMEDCT_US:247546006 human_phenotype owl:Class HP:0009213 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 5th finger A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. hp0009lx5z Triangular end part of the middle bone of the pinkie finger|Triangular end part of the middle bone of the little finger|Delta-shaped epiphysis of the middle phalanx of the 5th finger|Triangular end part of the middle bone of the pinky finger doelkens 2009-01-05T05:22:18Z UMLS:C4021511 human_phenotype owl:Class HP:0033932 biolink:NamedThing Arcuate artery intima/media coagulative necrosis A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. hp0009lx5z Coagulative necrosis within interlobular arterial intima/media 2021-06-24 01:20:42+00:00 peter owl:Class HP:0006055 biolink:NamedThing Ulnar deviated club hands hp0009lx5z UMLS:C1833881 human_phenotype owl:Class HP:0031775 biolink:NamedThing Neurogenic strabismus An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. hp0009lx5z Paralytic strabismus 2018-01-27 11:35:03+00:00 peter owl:Class HP:0009903 biolink:NamedThing Conjunctival nodule Presence of nodules in the conjunctiva of the eye. hp0009lx5z peter 2009-05-02T05:04:15Z UMLS:C1996949|SNOMEDCT_US:428477002 human_phenotype owl:Class HP:3000051 biolink:NamedThing Abnormal hyoglossus muscle morphology An abnormality of a hyoglossus muscle. hp0009lx5z Abnormality of hyoglossus muscle vasilevs 2015-08-07T01:08:58Z UMLS:C4073259 human_phenotype owl:Class HP:0033671 biolink:NamedThing Pulmonary oligemia Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow. hp0009lx5z 2021-02-28 15:00:40+00:00 See Figure 44 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0031983 biolink:NamedThing Abnormal pulmonary thoracic imaging finding This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. hp0009lx5z Abnormal chest radiograph finding (lung) 2018-07-08 13:38:01+00:00 peter owl:Class HP:0030957 biolink:NamedThing Ventricular septal aneurysm A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion. hp0009lx5z Ventricular septal dilatation 2017-03-17 20:01:17+00:00 Interventricular septal aneuryms may involve either the membranous or muscular portion of the interventricular septum. Membranous interventricular septal aneurysm is more common. robinp owl:Class HP:0010438 biolink:NamedThing Abnormal ventricular septum morphology A structural abnormality of the interventricular septum. hp0009lx5z Abnormality of the ventricular septum|Ventricular septum abnormality|Abnormal interventricular septum morphology doelkens 2009-07-27T11:59:56Z HP:0001628 Fyler:1815|UMLS:C4021264 human_phenotype owl:Class HP:0030327 biolink:NamedThing Abnormal osteoclast count An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages. hp0009lx5z UMLS:C4022508 owl:Class HP:0030326 biolink:NamedThing Abnormal macrophage count An anomaly in the number of macrophages. hp0009lx5z UMLS:C4022509 owl:Class HP:0100364 biolink:NamedThing Aplasia of the phalanges of the 5th toe hp0009lx5z Absent little toe bones|Absent pinky toe bones|Absent pinkie toe bones UMLS:C4022123 human_phenotype owl:Class HP:0009350 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger. hp0009lx5z Fragmentation of end part of innermost long bone of the middle finger doelkens 2009-01-12T11:19:03Z UMLS:C4024419 human_phenotype owl:Class HP:0009414 biolink:NamedThing Fragmentation of the epiphyses of the 3rd finger Fragmented appearance of the epiphyses of the 3rd finger. hp0009lx5z Fragmentation of end part of middle finger bone doelkens 2009-01-14T02:01:59Z UMLS:C4024379 human_phenotype owl:Class HP:0006846 biolink:NamedThing Acute encephalopathy hp0009lx5z UMLS:C1306587|SNOMEDCT_US:2776000 human_phenotype owl:Class HP:0001298 biolink:NamedThing Encephalopathy Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. hp0009lx5z This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. MSH:D001927|SNOMEDCT_US:81308009|UMLS:C0085584 human_phenotype owl:Class HP:0008672 biolink:NamedThing Calcium oxalate nephrolithiasis The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. hp0009lx5z Ca oxalate nephrolithiasis|Calcium oxalate urolithiasis|Ca oxalate urolithiasis|Ca2+ oxalate kidney stone|Calcium oxalate kidney stones|Ca2+ oxalate nephrolithiasis|Oxalate nephrolithiasis|Ca oxalate kidney stone|Ca2+ oxalate urolithiasis HP:0008700|HP:0008725 UMLS:C4280806|UMLS:C1833683|SNOMEDCT_US:444717006|MSH:C563477 human_phenotype owl:Class HP:0004724 biolink:NamedThing Calcium nephrolithiasis The presence of calcium-containing calculi (stones) in the kidneys. hp0009lx5z Ca kidney stone|Ca2+ nephrolithiasis|Calcium kidney stone|Ca2+ kidney stone|Ca nephrolithiasis The overwhelming majority of renal calculi contain calcium. UMLS:C1855801 human_phenotype owl:Class HP:0100822 biolink:NamedThing Rectocele A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy. hp0009lx5z doelkens 2011-06-09T05:07:41Z SNOMEDCT_US:62730001|MSH:D020047|ICD-9:618.04|SNOMEDCT_US:447072005|UMLS:C0149771 human_phenotype owl:Class HP:0025020 biolink:NamedThing Elevated prostate-specific antigen level An increased concentration of prostate specific antigen (PSA) in the circulation. hp0009lx5z 2016-08-12 12:13:13+00:00 Prostate-specific antigen (PSA) screening for prostate cancer has been common practice although the utility of general PSA screening has been called into question. HPO:probinson owl:Class HP:0012394 biolink:NamedThing Iodine contrast allergy Allergy to iodine contrast media used in radiological studies. hp0009lx5z peter 2013-11-07T07:49:32Z UMLS:C4022917 human_phenotype owl:Class HP:0011210 biolink:NamedThing EEG with occipital slowing Slowing in occipital areas of the scalp EEG. hp0009lx5z peter 2011-11-19T12:55:32Z UMLS:C4023465 human_phenotype owl:Class HP:0010843 biolink:NamedThing EEG with focal slow activity Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy). hp0009lx5z EEG: focal slow activity|EEG: localised slow activity|EEG: localized slow activity peter 2010-07-10T08:10:59Z UMLS:C4021218 human_phenotype owl:Class HP:0020195 biolink:NamedThing IgG heavy chain paraproteinemia An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp0009lx5z Gamma heavy-chain disease robinp 2019-09-05 14:04:32+00:00 owl:Class HP:0004095 biolink:NamedThing Curved fingers hp0009lx5z Curved fingers UMLS:C4025413 human_phenotype owl:Class HP:0001248 biolink:NamedThing Short tubular bones of the hand Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. hp0009lx5z Shortened short tubular bones of the hand UMLS:C4025795 human_phenotype owl:Class HP:0007740 biolink:NamedThing Long eyelashes in irregular rows hp0009lx5z Long eyelashes in irregular rows UMLS:C1850640 human_phenotype owl:Class HP:0000527 biolink:NamedThing Long eyelashes Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). hp0009lx5z Long eyelashes|Unusually long eyelashes|Increased length of eyelashes|Ciliary trichomegaly|Eyelash trichomegaly Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. HP:0000500 UMLS:C1853738 human_phenotype owl:Class HP:0009792 biolink:NamedThing Teratoma The presence of a teratoma. hp0009lx5z Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers. They derive from embryonic pluripotent cells and may have various degrees of maturation, according to which they are classified as mature, immature, and malignant. Teratomas are found with decreasing frequency in the ovaries and testis, mediastinum, retroperitoneal space, sacrococcygeal zone, pineal and other intracranial locations. peter 2009-02-03T05:23:03Z MSH:D013724|UMLS:C0039538|SNOMEDCT_US:55818009|NCIT:C3403 human_phenotype owl:Class HP:0001847 biolink:NamedThing Long hallux Increased length of the big toe. hp0009lx5z Long halluces|Long big toe|Large halluces|Increased length of the hallux HP:0001867 UMLS:C1864375 human_phenotype owl:Class HP:0005439 biolink:NamedThing Maxillozygomatic hypoplasia Hypoplasia of the maxillozygomatic complex. hp0009lx5z Hypoplasia of malar bone complex|Deficiency of zygomaticomaxillary bone complex|Decreased projection of zygomaticomaxillary bone complex|Decreased size of zygomaticomaxillary bone complex|Hypoplasia of zygomaticomaxillary complex|Underdevelopment of zygomaticomaxillary bone complex UMLS:C4280488|UMLS:C1848908 human_phenotype owl:Class HP:0009204 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 5th finger An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the middle bone of the little finger|Bracket shaped end part of the middle bone of the pinky finger|Bracket shaped end part of the middle bone of the pinkie finger doelkens 2009-01-05T05:22:18Z UMLS:C4024536 human_phenotype owl:Class HP:0200054 biolink:NamedThing Foot monodactyly hp0009lx5z doelkens 2011-11-22T09:56:55Z UMLS:C4021896 human_phenotype owl:Class HP:0001849 biolink:NamedThing Foot oligodactyly A developmental defect resulting in the presence of fewer than the normal number of toes. hp0009lx5z Missing toes|Oligodactyly of feet HP:0001777 SNOMEDCT_US:249820005|UMLS:C0426934 human_phenotype owl:Class HP:0100256 biolink:NamedThing Senile plaques Senile plaques are extracellular deposits of amyloid in the gray matter of the brain. hp0009lx5z Neuritic plaques|Senile druse|Braindruse Senile plaques can be found in human and animal brains. From an age of 60 years (10%) to an age of 80 years (60%) the proportion of people with plaques increases approximately linearly. A small number of plaques can be due to the physiological process of aging. Women are slightly more likely to have plaques than males. The plaques occur commonly in the amygdoid nucleus and the sulci of the cortex of brain. The deposits are associated with degenerative neural structures and an abundance of microglia and astrocytes. Large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimers disease, and some of the abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles. In Alzheimer's disease they are primarily composed of amyloid beta peptides. These polypeptides tend to aggregate and are believed to be neurotoxic. doelkens 2010-07-15T02:43:44Z SNOMEDCT_US:38551001|UMLS:C0333463|MSH:D058225 human_phenotype owl:Class HP:0020093 biolink:NamedThing Recurrent deep organ abscess formation Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ. hp0009lx5z 2019-04-08 17:44:58+00:00 robinp owl:Class HP:0032169 biolink:NamedThing Severe infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. hp0009lx5z Unusual course of infection 2018-12-16 15:11:20+00:00 peter owl:Class HP:0009459 biolink:NamedThing Short proximal phalanx of the 3rd finger Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger. hp0009lx5z Small proximal middle-finger phalanx|Short innermost bone of middle finger|Hypoplastic/small proximal phalanx of the 3rd finger|Short proximal middle-finger phalanx|Short proximal phalanx of the third finger doelkens 2009-01-14T04:35:28Z HP:0004169|HP:0004170 UMLS:C4021470 human_phenotype owl:Class HP:0009461 biolink:NamedThing Short 3rd finger Hypoplastic/small 3rd (middle) finger. hp0009lx5z Short middle finger|Hypoplastic/small 3rd finger|Short 3rd finger doelkens 2009-01-14T04:57:43Z HP:0004154 UMLS:C4021469 human_phenotype owl:Class HP:0100004 biolink:NamedThing Pericardial mesothelioma A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart). hp0009lx5z doelkens 2010-05-11T04:16:23Z UMLS:C1335381|NCIT:C3234 owl:Class HP:0003914 biolink:NamedThing Irregular ossification of humeral metaphyses hp0009lx5z Irregular bone maturation of the wide portion of the long bone in upper arm UMLS:C4025513 human_phenotype owl:Class HP:0012791 biolink:NamedThing Abnormal humeral ossification An anomaly of the process of formation of bone in the humerus. hp0009lx5z Abnormal maturation of long bone in upper arm peter 2014-04-24T10:23:43Z UMLS:C4022722 human_phenotype owl:Class HP:0032141 biolink:NamedThing Precordial pain A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck. hp0009lx5z 2018-11-22 15:23:39+00:00 peter owl:Class HP:0100749 biolink:NamedThing Chest pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. hp0009lx5z Chest pain|Chest discomfort|Thoracic pain doelkens 2011-06-06T06:36:48Z MSH:D002637|UMLS:C0008031|SNOMEDCT_US:29857009 owl:Class HP:0040055 biolink:NamedThing Short lower eyelashes hp0009lx5z Short lower eyelashes|Decreased length of lower eyelashes HPO:skoehler UMLS:C4022463 owl:Class HP:0002307 biolink:NamedThing Drooling Habitual flow of saliva out of the mouth. hp0009lx5z Sialorrhea|Drooling|Dribbling MSH:D012798|SNOMEDCT_US:62718007|SNOMEDCT_US:53827007|UMLS:C0013132|UMLS:C0037036|SNOMEDCT_US:275295002 owl:Class HP:0003781 biolink:NamedThing Excessive salivation Excessive production of saliva. hp0009lx5z Watery mouth|Ptyalism|Oversalivation|Mouth watering|Excessive salivation|Excessive production of saliva|Hypersalivation UMLS:C0013132|UMLS:C0037036|SNOMEDCT_US:275295002|MSH:D012798|SNOMEDCT_US:62718007|SNOMEDCT_US:53827007 human_phenotype owl:Class HP:0006892 biolink:NamedThing Frontotemporal cerebral atrophy Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. hp0009lx5z Cerebral atrophy, frontotemporal UMLS:C4021584 human_phenotype owl:Class HP:0032406 biolink:NamedThing Unilateral perisylvian polymicrogyria A type of perisylvian polymicrogyria that largely affects one side of the brain. hp0009lx5z 2019-02-24 20:45:13+00:00 peter owl:Class HP:0006927 biolink:NamedThing Unilateral polymicrogyria Excessive number of small gyri (convolutions) on the surface of one side of the brain. hp0009lx5z SNOMEDCT_US:715905006|UMLS:C4024960 human_phenotype owl:Class HP:0006641 biolink:NamedThing Prominent floating ribs hp0009lx5z Prominent floating ribs UMLS:C4025012 human_phenotype owl:Class HP:0002245 biolink:NamedThing Meckel diverticulum Meckel's diverticulum is a congenital diverticulum located in the distal ileum. hp0009lx5z UMLS:C0025037|MSH:D008467|MEDDRA:10027055|SNOMEDCT_US:37373007|SNOMEDCT_US:127962001 human_phenotype owl:Class HP:0001549 biolink:NamedThing Abnormal ileum morphology hp0009lx5z Abnormality of the ileum peter 2008-02-20T11:05:00Z UMLS:C4025762 human_phenotype owl:Class HP:0004934 biolink:NamedThing Vascular calcification Abnormal calcification of the vasculature. hp0009lx5z MSH:D061205|SNOMEDCT_US:237897009|UMLS:C0342649 owl:Class HP:0011991 biolink:NamedThing Abnormal neutrophil count A deviation from the normal range of neutrophil cell counts in the circulation. hp0009lx5z Abnormal neutrophil cell number peter 2012-07-19T10:59:14Z UMLS:C4023092 human_phenotype owl:Class HP:0012191 biolink:NamedThing B-cell lymphoma A type of lymphoma that originates in B-cells. hp0009lx5z B cell lymphoma peter 2013-02-27T06:59:05Z MSH:D016393|SNOMEDCT_US:413616009|SNOMEDCT_US:109979007|UMLS:C0079731|SNOMEDCT_US:1929004 human_phenotype owl:Class HP:0012539 biolink:NamedThing Non-Hodgkin lymphoma A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. hp0009lx5z peter 2013-12-15T10:45:49Z SNOMEDCT_US:118601006|SNOMEDCT_US:1929004|SNOMEDCT_US:188675007|UMLS:C0024305|SNOMEDCT_US:128929007|MSH:D008228 human_phenotype owl:Class HP:0100529 biolink:NamedThing Abnormal blood phosphate concentration An abnormality of phosphate homeostasis or concentration in the body. hp0009lx5z Abnormality of phosphate homeostasis doelkens 2010-12-20T11:58:32Z UMLS:C4022032 human_phenotype owl:Class HP:0000131 biolink:NamedThing Uterine leiomyoma The presence of a leiomyoma of the uterus. hp0009lx5z Benign uterine leiomyomas|Uterine fibroid Leiomyoma is a benign neoplasm derived from smooth muscle cells. HP:0008642 MSH:D007889|UMLS:C0042133|NCIT:C3157|SNOMEDCT_US:146801000119103|SNOMEDCT_US:95315005|SNOMEDCT_US:44598004 human_phenotype owl:Class HP:0010784 biolink:NamedThing Uterine neoplasm A tumor (abnormal growth of tissue) of the uterus. hp0009lx5z Uterine cancer|Uterine neoplasia|Uterine tumour|Uterine tumor sdoelken 2010-05-04T09:35:15Z NCIT:C3262|MSH:D014594|UMLS:C0042138|SNOMEDCT_US:126908007 human_phenotype owl:Class HP:0003090 biolink:NamedThing Hypoplasia of the capital femoral epiphysis Underdevelopment of the proximal epiphysis of the femur. hp0009lx5z Underdevelopment of the innermost thighbone end part|Small capital femoral epiphyses|Small innermost thighbone end part|Small proximal femoral epiphyses|Small femoral capital epiphyses HP:0003374|HP:0008792|HP:0008791 UMLS:C1839254 human_phenotype owl:Class HP:0005003 biolink:NamedThing Aplasia/Hypoplasia of the capital femoral epiphysis Absence or underdevelopment of the proximal epiphysis of the femur. hp0009lx5z Absent/small end part of innermost thighbone|Absent/underdeveloped end part of innermost thighbone UMLS:C4025261 human_phenotype owl:Class HP:0001824 biolink:NamedThing Weight loss Reduction of total body weight. hp0009lx5z Loss of weight MSH:D015431|SNOMEDCT_US:262285001|SNOMEDCT_US:89362005|SNOMEDCT_US:161832001|UMLS:C1262477 owl:Class HP:0030130 biolink:NamedThing Impaired von Willibrand factor collagen binding activity Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers. hp0009lx5z This abnormality may be seen in von Willibrand disease type 1, type 2A, type 2B, and type 3. UMLS:C4022618 owl:Class HP:0031621 biolink:NamedThing Anterior chamber flare grade 4+ Intense anterior chamber flare (fibrin/plastic aqueous). hp0009lx5z 2017-12-16 13:32:13+00:00 peter owl:Class HP:0031616 biolink:NamedThing Anterior chamber flare An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber. hp0009lx5z 2017-12-16 13:18:34+00:00 Anterior chamber flare grade 0 (i.e., a normal finding) should be coded as the negation of this term. peter owl:Class HP:0033780 biolink:NamedThing Bulbous tooth A tooth crown with a marked cervical area constriction. hp0009lx5z 2021-05-07 10:09:42+00:00 peter owl:Class HP:0006482 biolink:NamedThing Abnormality of dental morphology An abnormality of the morphology of the tooth. hp0009lx5z Deformity of teeth|Dental malformations|Malformed teeth|Misshapened teeth|Abnormality of dental shape|Dental deformity|Abnormality of shape of tooth|Misshapen teeth|Malformation of teeth|Abnormally shaped teeth peter 2008-03-28T05:41:00Z HP:0000697 MSH:D014071|SNOMEDCT_US:422775003|UMLS:C0040427|UMLS:C0262444 human_phenotype owl:Class HP:0000166 biolink:NamedThing Severe periodontitis A severe form of periodontitis. hp0009lx5z Severe gum disease|Severe pyorrhea|Severe periodontal disease UMLS:C4025886 human_phenotype owl:Class HP:0000704 biolink:NamedThing Periodontitis Inflammation of the periodontium. hp0009lx5z Pyorrhea|Periodontal disease|Gum disease HP:0006301|HP:0000165 UMLS:C0017563|MSH:D005882|SNOMEDCT_US:2556008|SNOMEDCT_US:18718003|MSH:D010510|UMLS:C0031090|UMLS:C0031099|MSH:D010518|SNOMEDCT_US:41565005 owl:Class HP:0000133 biolink:NamedThing Gonadal dysgenesis hp0009lx5z Mixed gonadal dysgenesis|Pure gonadal dysgenesis HP:0003243 SNOMEDCT_US:38804009|MSH:D006059|SNOMEDCT_US:205681004|SNOMEDCT_US:83579008|UMLS:C0018055|MSH:D006060|UMLS:C0018051|SNOMEDCT_US:95219002|UMLS:C0687149 human_phenotype owl:Class HP:0011588 biolink:NamedThing Cervical aortic arch The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta. hp0009lx5z peter 2012-04-08T01:37:51Z UMLS:C0345065|SNOMEDCT_US:253657003 human_phenotype owl:Class HP:0002599 biolink:NamedThing Head titubation A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. hp0009lx5z Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see PMID:4821687) was: As the disease progresses, some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea. UMLS:C1608410 human_phenotype owl:Class HP:0002457 biolink:NamedThing Abnormal head movements hp0009lx5z Abnormal head movements SNOMEDCT_US:271799000|UMLS:C0476217 human_phenotype owl:Class HP:0011785 biolink:NamedThing Thyrotoxicosis with toxic multinodular goiter hp0009lx5z Thyrotoxicosis with toxic multinodular goitre peter 2012-04-22T06:15:52Z SNOMEDCT_US:26389007|UMLS:C0154143 human_phenotype owl:Class HP:0000836 biolink:NamedThing Hyperthyroidism An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). hp0009lx5z Overactive thyroid HP:0008241 SNOMEDCT_US:34486009|MSH:D006980|UMLS:C0020550 human_phenotype owl:Class HP:0033949 biolink:NamedThing Arcuate artery intima/media granulomatous arteriitis A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. hp0009lx5z Granulomatous arteritis within arcuate arterial intima/media 2021-06-24 12:16:22+00:00 peter owl:Class HP:0033948 biolink:NamedThing Arcuate artery intima/media arteriitis Inflammation of the inner or middle layer of the arcuate arteries of the kidney. hp0009lx5z Arteritis within arcuate arterial intima/media 2021-06-24 12:14:55+00:00 peter owl:Class HP:0031225 biolink:NamedThing Intrapulmonary shunt Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs. hp0009lx5z Intrapulmonary shunting 2017-07-02 12:12:01+00:00 Intrapulmonary shunt may be a result of blood flow through collapsed alveoli, tumors, arteriovenous pathways,and other conditions. peter owl:Class HP:0005988 biolink:NamedThing Congenital muscular torticollis A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. hp0009lx5z Torticollis, congenital Congenital muscular torticollis is thought to result from injury to the sternocleidomastoid muscle during birth trauma, resulting in fibrosis and unilateral shortening of the sternocleidomastoid muscle. Congenital muscular torticollis is thus etiologically and phenotypically distinct from spasmodic torticollis. MSH:C535425|UMLS:C0079352|SNOMEDCT_US:268240006 human_phenotype owl:Class HP:0033514 biolink:NamedThing Amphetamine addiction Addiction to amphetamine or dextroamphetamine. hp0009lx5z Amphetamine dependence|Dextroamphetamine dependence|Dextroamphetamine addiction 2021-01-13 12:23:45+00:00 peter owl:Class HP:0032097 biolink:NamedThing Hypermanganesemia An elevation above the normal concentration of manganese in the blood. hp0009lx5z Increased blood manganese concentration 2018-11-04 11:12:18+00:00 peter owl:Class HP:0032096 biolink:NamedThing Abnormal manganese concentration A deviation from the normal range of manganese in the blood circulation. hp0009lx5z 2018-11-04 11:11:31+00:00 peter owl:Class HP:0002653 biolink:NamedThing Bone pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. hp0009lx5z Bone pain SNOMEDCT_US:12584003|UMLS:C0151825 human_phenotype owl:Class HP:0003736 biolink:NamedThing Autophagic vacuoles The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. hp0009lx5z UMLS:C0544966 human_phenotype owl:Class HP:0009843 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanges of the hand hp0009lx5z Aplasia/hypoplasia of middle phalanges|Aplastic/hypoplastic middle phalanges|Short to absent middle phalanges|Short/absent middle phalanges|Hypoplastic/aplastic middle phalanx|Absent/underdeveloped middle finger bone of the hand|Absent/small middle finger bone of the hand|Absent/hypoplastic middle phalanges doelkens 2009-03-11T12:15:55Z HP:0006148|HP:0005810|HP:0006063 UMLS:C1862152 human_phenotype owl:Class HP:0041184 biolink:NamedThing Fractured middle phalanx of manual digit 4 A partial or complete breakage of the middle phalanx of manual digit 4. hp0009lx5z bone middle phalanx of manual digit 4 owl:Class HP:0005360 biolink:NamedThing Susceptibility to chickenpox Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox. hp0009lx5z UMLS:C1855205 human_phenotype owl:Class HP:0004429 biolink:NamedThing Recurrent viral infections Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection. hp0009lx5z peter 2008-03-18T09:45:00Z HP:0005364 UMLS:C1837066 human_phenotype owl:Class HP:0040098 biolink:NamedThing Basalioma of the outer ear hp0009lx5z HPO:skoehler UMLS:C4022442 owl:Class HP:0002671 biolink:NamedThing Basal cell carcinoma The presence of a basal cell carcinoma of the skin. hp0009lx5z Basal cell carcinomas|Basal cell epithelioma|Basal cell nevus|Basalioma A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life. UMLS:C1862314|NCIT:C2921|SNOMEDCT_US:275265005|SNOMEDCT_US:254701007|SNOMEDCT_US:1338007|MSH:D002280|UMLS:C0007117 human_phenotype owl:Class HP:0040171 biolink:NamedThing Decreased serum testosterone concentration hp0009lx5z Decreased testosterone|Decreased serum testosterone level|Decreased serum testosterone levels|Low serum testosterone level|Low serum testosterone levels HPO:skoehler HP:0008230 UMLS:C4073137|UMLS:C1295654|SNOMEDCT_US:131078003 owl:Class HP:0000548 biolink:NamedThing Cone/cone-rod dystrophy hp0009lx5z Cone rod dystrophy|Cone-rod retinal dystrophy HP:0008157 MSH:D012174 owl:Class HP:0009814 biolink:NamedThing Upper limb peromelia Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation. hp0009lx5z doelkens 2009-02-23T05:06:12Z UMLS:C4024199 human_phenotype owl:Class HP:0009828 biolink:NamedThing Peromelia The distal parts of the limbs are missing leading to a stump formation. hp0009lx5z doelkens 2009-02-23T05:17:25Z UMLS:C4024192 human_phenotype owl:Class HP:0031135 biolink:NamedThing Triggered by physical trauma Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue). hp0009lx5z Physical trauma triggered symptoms 2017-06-10 13:29:55+00:00 peter owl:Class HP:0001259 biolink:NamedThing Coma Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. hp0009lx5z Coma Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. ICD-10:R40.2|MSH:D003128|SNOMEDCT_US:371632003|UMLS:C0009421 human_phenotype owl:Class HP:0031143 biolink:NamedThing Decreased hepatic echogenicity Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device. hp0009lx5z Hypoechogenic liver 2017-06-11 19:23:55+00:00 peter owl:Class HP:0031142 biolink:NamedThing Abnormal hepatic echogenicity Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen). hp0009lx5z 2017-06-11 19:20:52+00:00 peter owl:Class HP:0007717 biolink:NamedThing Chronic irritative conjunctivitis A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes. hp0009lx5z UMLS:C4024810 human_phenotype owl:Class HP:0000509 biolink:NamedThing Conjunctivitis Inflammation of the conjunctiva. hp0009lx5z Pink eye|Conjunctivitis, recurrent UMLS:C0009763|UMLS:C1864156|MSH:D003231|SNOMEDCT_US:9826008 human_phenotype owl:Class HP:3000007 biolink:NamedThing Abnormality of mentalis muscle An abnormality of a mentalis muscle. hp0009lx5z vasilevs 2015-02-26T03:43:12Z UMLS:C4073216 human_phenotype owl:Class HP:0500252 biolink:NamedThing Increased urine sebacic acid concentration Elevated concentration of sebacic acid in the urine. hp0009lx5z Increased urine decanedioic acid concentration 2019-03-08 20:03:22+00:00 owl:Class HP:0500251 biolink:NamedThing Abnormal urine sebacic acid concentration Abnormal concentration of sebacic acid in the urine. hp0009lx5z Abnormal urine decanedioic acid concentration 2019-03-08 19:58:13+00:00 owl:Class HP:0006858 biolink:NamedThing Impaired distal proprioception A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints. hp0009lx5z Distal sensory loss of proprioception HP:0007148|HP:0007056 UMLS:C4021585 owl:Class HP:0200141 biolink:NamedThing Small, conical teeth hp0009lx5z Small, pointed teeth|Small, peg shaped teeth|Small, cone shaped teeth|Conical microdontia sebastiankohler 2013-06-13T11:59:54Z UMLS:C1851883|UMLS:C4280285|UMLS:C4280284 human_phenotype owl:Class HP:0000698 biolink:NamedThing Conical tooth An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. hp0009lx5z Shark tooth|Peg shaped teeth|Conoid tooth|Cone shaped tooth|Peg tooth|Peg shaped tooth|Peg-shaped teeth|Conical teeth|Pointed tooth A conical shape of a tooth occurs in incisors and canines only. Conical teeth may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately. SNOMEDCT_US:29553002|UMLS:C0266037|UMLS:C4012359 owl:Class HP:0100274 biolink:NamedThing Gustatory lacrimation Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. hp0009lx5z The aberrant innervation leading to this phenomenon may be seen for example as a hereditary trait in some patients with Branchio-oto-renal (BOR) syndrome in which case it may occur unilateral or bilateral, but it may also result from a secondary aberrant reinnervation following a peripheral facial palsy, in which case it is associated with uncontrollable ipsilateral tearing. In the past gustatory lacrimation was considered to be a very rare non-hereditary type of anomalous, cranial nerve-end organ innervation but rare occurences in patients with Branchio-oto-renal (BOR) syndrome have shown, that this feature may also appear as a hereditary condition. doelkens 2010-07-29T11:59:06Z UMLS:C1862052 human_phenotype owl:Class HP:0012029 biolink:NamedThing Abnormal urine hormone level An abnormal concentration of a hormone in the urine. hp0009lx5z Abnormality of urine hormone level peter 2012-07-27T01:29:51Z UMLS:C4023069 human_phenotype owl:Class HP:0031158 biolink:NamedThing Widened atrophic scar An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. hp0009lx5z 2017-06-18 13:39:46+00:00 peter owl:Class HP:0001075 biolink:NamedThing Atrophic scars Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. hp0009lx5z Sunken or indented skin due to damage|Thin, atrophic scars HP:0007567 SNOMEDCT_US:409766009|SNOMEDCT_US:239172000|UMLS:C0162154 human_phenotype owl:Class HP:0002066 biolink:NamedThing Gait ataxia A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. hp0009lx5z Ataxia of gait|Ataxic gait|Inability to coordinate movements when walking HP:0002379 SNOMEDCT_US:25136009|UMLS:C0751837|MSH:D020234 human_phenotype owl:Class HP:0001251 biolink:NamedThing Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). hp0009lx5z Cerebellar ataxia Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. HP:0007157|HP:0007050|HP:0001253|HP:0002513 MSH:D002524|UMLS:C0007758|SNOMEDCT_US:85102008 owl:Class HP:0012078 biolink:NamedThing Motor conduction block Blockade of impulses at a focal site along the course of a motor axon. hp0009lx5z peter 2012-08-18T04:34:49Z UMLS:C4023056 human_phenotype owl:Class HP:0040131 biolink:NamedThing Abnormal motor nerve conduction velocity hp0009lx5z HPO:skoehler UMLS:C4021031 owl:Class HP:0033280 biolink:NamedThing Paratracheal lymphadenopathy Enlargement of lymph nodes surrounding the trachea. hp0009lx5z 2020-11-28 18:19:06+00:00 peter owl:Class HP:0032744 biolink:NamedThing Focal aware emotional seizure with agitation Focal emotional seizure with agitation in which awareness is retained throughout. hp0009lx5z peter owl:Class HP:0032734 biolink:NamedThing Focal aware emotional seizure A focal emotional seizure during which awareness is retained throughout the seizure. hp0009lx5z peter owl:Class HP:0033078 biolink:NamedThing Decreased circulating free T4 level A reduced concentration of free thyroxine (fT4) in the blood circulation. hp0009lx5z peter owl:Class HP:0033076 biolink:NamedThing Abnormal circulating free T4 level A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects. hp0009lx5z Abnormal circulating free thyroxine level peter owl:Class HP:0100056 biolink:NamedThing Bracket epiphyses of the 3rd toe hp0009lx5z Bracket shaped end part of 3rd toe bone doelkens 2010-06-24T09:58:55Z UMLS:C4022365 human_phenotype owl:Class HP:0032775 biolink:NamedThing Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0032755 biolink:NamedThing Focal impaired awareness autonomic seizure A focal autonomic seizure characterised by impaired awareness at some point within the seizure. hp0009lx5z Partial autonomic seizure with altered responsiveness|Localized autonomic seizure with altered responsiveness|Localised autonomic seizure with altered responsiveness|Focal autonomic seizure with altered responsiveness peter HP:0011155 owl:Class HP:0032022 biolink:NamedThing Eosinophilic dermal infiltration Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils. hp0009lx5z Eosinophilic dermatitis 2018-09-01 13:38:35+00:00 peter owl:Class HP:0410195 biolink:NamedThing Decreased uridine diphosphate glucose-4-epimerase level in plasma A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp0009lx5z Decreased UDP-glucose 4-epimerase level in plasma 2018-05-21 18:23:54+00:00 owl:Class HP:0410193 biolink:NamedThing Abnormal uridine diphosphate glucose-4-epimerase level in plasma An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp0009lx5z Abnormal UDP-glucose 4-epimerase activity level in plasma 2018-05-21 18:23:41+00:00 owl:Class HP:0007307 biolink:NamedThing Rapid neurologic deterioration hp0009lx5z UMLS:C4024908 owl:Class HP:0002344 biolink:NamedThing Progressive neurologic deterioration hp0009lx5z Progressive mental deterioration|Neurologic deterioration, progressive|Progressive neurodegeneration|Neurologic deterioration|Worsening neurological symptoms UMLS:C1854838 owl:Class HP:0100374 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 5th toe hp0009lx5z Absent/underdeveloped middle bone of pinky toe|Absent/small middle 5th toe bone|Absent/underdeveloped middle bone of little toe|Absent/underdeveloped middle bone of pinkie toe UMLS:C4022117 human_phenotype owl:Class HP:0100734 biolink:NamedThing Abnormality of vertebral epiphysis morphology An anomaly of one or more epiphyses of one or more vertebrae. hp0009lx5z Abnormal shape of the end part of the vertebra bone|Abnormality of the vertebral epiphyses doelkens 2011-06-06T05:13:08Z UMLS:C4020953 human_phenotype owl:Class HP:0030837 biolink:NamedThing Finger pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger. hp0009lx5z Finger pain SNOMEDCT_US:18876004|UMLS:C0239589 owl:Class HP:0046505 biolink:NamedThing Hand pain An unpleasant sensation characterized by physical discomfort localized to the hand. hp0009lx5z owl:Class HP:0005199 biolink:NamedThing Aplasia of the abdominal wall musculature Absence of the abdominal musculature. hp0009lx5z Absent abdominal musculature UMLS:C3149223 human_phenotype owl:Class HP:0003038 biolink:NamedThing Fibular hypoplasia Underdevelopment of the fibula. hp0009lx5z Short fibula|Short fibulae|Hypoplastic fibula|Short calf bone HP:0005887|HP:0006401|HP:0002985 UMLS:C1832119 human_phenotype owl:Class HP:0011150 biolink:NamedThing Myoclonic absence seizure Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. hp0009lx5z Myoclonic absence|Myoclonic absences peter 2011-10-18T02:04:35Z UMLS:C4023512 human_phenotype owl:Class HP:0006723 biolink:NamedThing Intestinal carcinoid hp0009lx5z UMLS:C4024988 human_phenotype owl:Class HP:0025492 biolink:NamedThing Microcoria A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. hp0009lx5z 2017-05-14 19:32:33+00:00 HPO:probinson owl:Class HP:0000615 biolink:NamedThing Abnormal pupil morphology An abnormality of the pupil. hp0009lx5z Pupillary abnormality|Pupillary abnormalities|Abnormality of the pupil|Abnormal pupillary morphology HP:0008018|HP:0030960 SNOMEDCT_US:274093008|UMLS:C0154936 human_phenotype owl:Class HP:0008486 biolink:NamedThing Lumbar interpedicular narrowing Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. hp0009lx5z Decreasing lumbar vertebrae interpediculate distance UMLS:C1849079 human_phenotype owl:Class HP:0008457 biolink:NamedThing Caudal interpedicular narrowing Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. hp0009lx5z Caudal narrowing of interpedicular distances UMLS:C1863734 human_phenotype owl:Class HP:0041189 biolink:NamedThing Fractured epiphysis of femur A partial or complete breakage of the epiphysis of femur. hp0009lx5z bone epiphysis of femur owl:Class HP:0041147 biolink:NamedThing Fractured epiphysis A partial or complete breakage of the epiphysis. hp0009lx5z bone epiphysis owl:Class HP:0009054 biolink:NamedThing Scapuloperoneal myopathy hp0009lx5z UMLS:C2931268|MSH:C536624 human_phenotype owl:Class HP:0000157 biolink:NamedThing Abnormality of the tongue Any abnormality of the tongue. hp0009lx5z Glossal abnormality|Lingual abnormality|Abnormality of the tongue|Abnormal tongue|Tongue abnormality UMLS:C0878638 human_phenotype owl:Class HP:0000163 biolink:NamedThing Abnormal oral cavity morphology Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. hp0009lx5z Abnormality of the oral cavity UMLS:C4025887 human_phenotype owl:Class HP:0100238 biolink:NamedThing Synostosis involving bones of the upper limbs An abnormal union between bones or parts of bones of the upper limbs. hp0009lx5z Fusion involving bones of the upper limbs doelkens 2010-06-24T05:49:08Z UMLS:C4022184 human_phenotype owl:Class HP:0012253 biolink:NamedThing Abnormal respiratory epithelium morphology Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. hp0009lx5z peter 2013-04-07T09:12:48Z UMLS:C4022991 human_phenotype owl:Class HP:0030348 biolink:NamedThing Increased circulating androgen concentration An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. hp0009lx5z Increased circulating androgen level UMLS:C4072893 owl:Class HP:0009777 biolink:NamedThing Absent thumb Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. hp0009lx5z Thumb aplasia|Absent thumb|Absent thumbs|Aplasia of the thumb doelkens 2009-02-02T05:46:42Z HP:0001185|HP:0009627|HP:0002802 UMLS:C3278811 human_phenotype owl:Class HP:0009601 biolink:NamedThing Aplasia/Hypoplasia of the thumb Hypoplastic/small or absent thumb. hp0009lx5z Aplasia/hypoplasia of thumbs|Aplastic/hypoplastic thumbs|Absent/underdeveloped thumb|Absent/small thumb|Absent/hypoplastic thumb|Hypoplastic to aplastic thumbs|Thumb aplasia/hypoplasia|Absent or hypoplastic thumbs|Absent/hypoplastic thumbs|Hypoplastic/absent thumb doelkens 2009-01-29T01:08:24Z HP:0006225|HP:0002950 UMLS:C3179508|MSH:C536903 human_phenotype owl:Class HP:0030337 biolink:NamedThing Elevated CD4-positive, CD25-positive regulatory T cell count An increased number of CD4-positive, CD25-positive regulatory T cells. hp0009lx5z UMLS:C4022501 owl:Class HP:0030335 biolink:NamedThing Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells. hp0009lx5z UMLS:C4021859 owl:Class HP:0001905 biolink:NamedThing Congenital thrombocytopenia Thrombocytopenia with congenital onset. hp0009lx5z thrombocytopenia, congenital HP:0004869 UMLS:C0272278 human_phenotype owl:Class HP:0005036 biolink:NamedThing Unilateral ulnar hypoplasia Underdevelopment of the ulna on only one side. hp0009lx5z UMLS:C1837832 human_phenotype owl:Class HP:0003022 biolink:NamedThing Hypoplasia of the ulna Underdevelopment of the ulna. hp0009lx5z Underdeveloped inner large forearm bone|Short ulnae|Hypoplastic ulna|Ulnar hypoplasia|Underdeveloped ulna|Short ulna HP:0006388|HP:0006444|HP:0002998|HP:0005842 UMLS:C1862132|UMLS:C1860614|MSH:C538069 human_phenotype owl:Class HP:0006205 biolink:NamedThing Irregular phalanges Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance. hp0009lx5z Irregular finger bones UMLS:C4025081 human_phenotype owl:Class HP:0040166 biolink:NamedThing Abnormality of the periosteum hp0009lx5z UMLS:C4073134 owl:Class HP:0001099 biolink:NamedThing Fundus atrophy hp0009lx5z UMLS:C2673929 human_phenotype owl:Class HP:0001098 biolink:NamedThing Abnormal fundus morphology Any structural abnormality of the fundus of the eye. hp0009lx5z Abnormality of the fundus UMLS:C4025804 human_phenotype owl:Class HP:0033636 biolink:NamedThing Combined pre- and post-capillary pulmonary hypertension Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). hp0009lx5z 2021-02-01 14:58:09+00:00 peter owl:Class HP:0032596 biolink:NamedThing Renal tubular epithelial cell cytoplasmic vacuolization Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. hp0009lx5z peter owl:Class HP:0025144 biolink:NamedThing Shivering Involuntary contraction or twitching of the muscles. hp0009lx5z Shuddering|Shivering 2016-11-29 11:13:35+00:00 Shivering is a physiologic method of heat production in man and other mammals. Shivering is a bodily function in response to fever, early hypothermia or feeling cold. HPO:probinson owl:Class HP:0030658 biolink:NamedThing Marginal umbilical cord insertion Insertion of the umbilical cord within 2 cm from the placental edge. hp0009lx5z Marginal cord insertion Marginal cord insertion has an ncidence of about 7 percent of births. It is associated with intrauterine growth retardation, preterm labor and development of velamentous cord insertion. UToronto:chum SNOMEDCT_US:51519001|UMLS:C0266788 owl:Class HP:0031405 biolink:NamedThing Poroma A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]. hp0009lx5z 2017-09-03 15:57:11+00:00 peter owl:Class HP:0032196 biolink:NamedThing Prominent S wave in lead I Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram. hp0009lx5z 2019-01-19 13:32:59+00:00 peter owl:Class HP:0032195 biolink:NamedThing Abnormal S wave Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart. hp0009lx5z 2019-01-19 13:30:36+00:00 peter owl:Class HP:0003400 biolink:NamedThing Basal lamina onion bulb formation A type of onion bulb formation prominently affecting the area of the basal lamina. hp0009lx5z Basal lamina 'onion bulb' formations on nerve biopsy UMLS:C1866637 human_phenotype owl:Class HP:0003383 biolink:NamedThing Onion bulb formation Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. hp0009lx5z 'Onion bulb' formations|Onion bulb formations This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve. HP:0003389|HP:0008276|HP:0007022|HP:0007084|HP:0007013 UMLS:C1847906 human_phenotype owl:Class HP:0003264 biolink:NamedThing Deficiency of N-acetylglucosamine-1-phosphotransferase hp0009lx5z N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. UMLS:C0020725|SNOMEDCT_US:70199000|MSH:D009081 human_phenotype owl:Class HP:0004356 biolink:NamedThing Abnormality of lysosomal metabolism hp0009lx5z A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors. peter 2008-03-17T02:40:00Z UMLS:C4025342 human_phenotype owl:Class HP:0010985 biolink:NamedThing Gonosomal inheritance A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. hp0009lx5z peter 2011-02-08T10:16:28Z UMLS:C4023613 human_phenotype owl:Class HP:0000005 biolink:NamedThing Mode of inheritance The pattern in which a particular genetic trait or disorder is passed from one generation to the next. hp0009lx5z Inheritance HP:0001461|HP:0001453 UMLS:C1708511 human_phenotype owl:Class HP:0002198 biolink:NamedThing Dilated fourth ventricle An abnormal dilatation of the fourth cerebral ventricle. hp0009lx5z Enlarged fourth ventricle HP:0007223 UMLS:C1847117 owl:Class HP:0002119 biolink:NamedThing Ventriculomegaly An increase in size of the ventricular system of the brain. hp0009lx5z Dilated cerebral ventricles|Enlarged cerebral ventricles|Cerebral ventricular dilatation|Enlarged ventricular system|Enlarged ventricles|Ventricular dilatation|Large cerebral ventricles and cisternae|Dilated ventricles|Dilated cerebral ventricle HP:0002447|HP:0007071|HP:0005691 UMLS:C3278923 owl:Class HP:0200123 biolink:NamedThing Chronic hepatitis Hepatitis that lasts for more than six months. hp0009lx5z Chronic liver inflammation sebastiankohler 2013-06-11T11:20:53Z MSH:D006521|UMLS:C0019189|SNOMEDCT_US:76783007 human_phenotype owl:Class HP:0012115 biolink:NamedThing Hepatitis Inflammation of the liver. hp0009lx5z Liver inflammation hecht 2012-09-16T05:03:29Z UMLS:C0019158|SNOMEDCT_US:128241005|MSH:D006505 human_phenotype owl:Class HP:0041230 biolink:NamedThing Fractured metatarsal bone of digit 4 A partial or complete breakage of the metatarsal bone of digit 4. hp0009lx5z bone metatarsal bone of digit 4 owl:Class HP:0040035 biolink:NamedThing Abnormality of the fourth metatarsal bone hp0009lx5z Abnormality of the 4th long bone of foot HPO:skoehler UMLS:C4022478 owl:Class HP:0020112 biolink:NamedThing Increased proportion of CD4+CD25+ regulatory T cells An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. hp0009lx5z Elevated proportion of CD4+CD25+ regulatory T cells|Increased proportion of CD4+CD25+ Treg cells 2019-04-08 20:50:53+00:00 robinp owl:Class HP:0020111 biolink:NamedThing Abnormal CD4+CD25+ regulatory T cell proportion A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. hp0009lx5z Abnormal CD4+CD25+ Treg cell proportion 2019-04-08 20:48:36+00:00 Identification of Treg cells remains problematic, because accumulating evidence suggests that all the presently-used Treg markers (CD25, CTLA-4, GITR, LAG-3, CD127 and Foxp3) represent general T-cell activation markers, rather than being truly Treg-specific. robinp owl:Class HP:0100385 biolink:NamedThing Aplasia of the proximal phalanx of the 4th toe hp0009lx5z Absent innermost bone of the 4th toe UMLS:C4022109 human_phenotype owl:Class HP:0004800 biolink:NamedThing Duodenal diverticula hp0009lx5z UMLS:C0341266|SNOMEDCT_US:197083003 human_phenotype owl:Class HP:0002256 biolink:NamedThing Small bowel diverticula hp0009lx5z UMLS:C0267498|MEDDRA:10013533|SNOMEDCT_US:8114009 human_phenotype owl:Class HP:0012754 biolink:NamedThing CNS hypermyelination Increased amount of myelin in the central nervous system. hp0009lx5z peter 2014-03-30T07:15:56Z UMLS:C4022742 human_phenotype owl:Class HP:0010807 biolink:NamedThing Open bite Visible space between the dental arches in occlusion. hp0009lx5z Open bite between upper and lower teeth|Absence of overlap of upper and lower teeth|Open bite An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion. peter 2010-07-02T09:30:43Z MSH:D024343|SNOMEDCT_US:35580009|UMLS:C0266061 human_phenotype owl:Class HP:0000692 biolink:NamedThing Tooth malposition Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. hp0009lx5z Malaligned teeth|Teeth, malposition|Crooked teeth|Abnormality of position of teeth|Malpositioned teeth|Abnormality of teeth spacing|Abnormal dental position|Misalignment of teeth|Malposition of teeth|Abnormality of alignment of teeth|Abnormal teeth spacing HP:0006478|HP:0000693|HP:0001569|HP:0006303 UMLS:C4280610|UMLS:C1852504 owl:Class HP:0009256 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 4th finger Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the outermost ring finger bone doelkens 2009-01-07T12:07:34Z UMLS:C4024491 human_phenotype owl:Class HP:0033198 biolink:NamedThing Triggered by viral infection Applies to a sign or symptom that is provoked or brought about by infection by a virus. hp0009lx5z 2020-10-11 12:16:45+00:00 peter owl:Class HP:0033184 biolink:NamedThing Triggered by infection hp0009lx5z 2020-10-04 11:47:16+00:00 Applies to a sign or symptom that is provoked or brought about by an infection, that is by invasion and multiplication of microorganisms such as bacteria, viruses, and parasites that are not normally present within the body. peter owl:Class HP:0010630 biolink:NamedThing Abnormality of metatarsal epiphysis Any abnormality of a metatarsal bone epiphysis. hp0009lx5z Abnormality of the epiphyses of the metatarsals|Abnormality of end part of long bone of foot peter 2009-12-06T05:58:36Z UMLS:C4021248 human_phenotype owl:Class HP:0010631 biolink:NamedThing Abnormality of the epiphyses of the feet Any abnormality of the epiphyses of the feet. hp0009lx5z Abnormality of the end part of the foot bone peter 2009-12-06T06:00:04Z UMLS:C4023769 human_phenotype owl:Class HP:0012862 biolink:NamedThing Abnormal germ cell morphology Any structural anomaly of a reproductive cell. hp0009lx5z Abnormal shape of a reproductive cell|Abnormally shaped germ cell|Abnormally shaped reproductive cell hecht 2014-06-09T10:01:49Z UMLS:C4022704 human_phenotype owl:Class HP:0011661 biolink:NamedThing Anomalous origin of left pulmonary artery from ascending aorta The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. hp0009lx5z peter 2012-04-09T10:42:23Z SNOMEDCT_US:253637002|UMLS:C0345040 human_phenotype owl:Class HP:0011660 biolink:NamedThing Anomalous origin of one pulmonary artery from ascending aorta Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle. hp0009lx5z Hemitruncus Origin of a pulmonary artery from the aorta is also known as hemitruncus. One pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, while the main pulmonary artery and the other pulmonary branch arise in their normal position from the right ventricle. peter 2012-04-09T10:34:29Z UMLS:C4021134|Fyler:550|Fyler:0550 human_phenotype owl:Class HP:0002870 biolink:NamedThing Obstructive sleep apnea A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. hp0009lx5z Obstructive sleep apnoea UMLS:C0520679|MSH:D020181|SNOMEDCT_US:78275009 human_phenotype owl:Class HP:0010535 biolink:NamedThing Sleep apnea An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. hp0009lx5z Pauses in breathing while sleeping|Sleep apnoea peter 2009-09-21T08:53:35Z SNOMEDCT_US:73430006|MSH:D012891|UMLS:C0037315 human_phenotype owl:Class HP:0025026 biolink:NamedThing H-type rectovestibular fistula Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract. hp0009lx5z 2016-08-26 11:58:54+00:00 HPO:probinson owl:Class HP:0025025 biolink:NamedThing Rectovestibular fistula A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening. hp0009lx5z Vestibular fistula 2016-08-26 11:49:07+00:00 The condition can cause feces and gas to exit the vaginal vestibule. HPO:probinson owl:Class HP:0025491 biolink:NamedThing Venous stenosis Narrowing of a vein due to intimal hyperplasia and fibrosis. hp0009lx5z 2017-05-14 19:22:38+00:00 Venous stenosis can be secondary to placement of central venous catheters, pacemaker leads, hemodialysis catheters, prior radiation, trauma, or extrinsic compression by musculoskeletal structures. HPO:probinson owl:Class HP:0003552 biolink:NamedThing Muscle stiffness A condition in which muscles cannot be moved quickly without accompanying pain or spasm. hp0009lx5z HP:0009014 SNOMEDCT_US:16046003|UMLS:C0221170 human_phenotype owl:Class HP:0031092 biolink:NamedThing Spindle-shaped finger Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base). hp0009lx5z 2017-05-29 01:07:51+00:00 peter owl:Class HP:5000047 biolink:NamedThing Anti-ryanodine receptor antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor. hp0009lx5z Anti-RyR antibody ORCID:0000-0002-3387-1836 owl:Class HP:0008707 biolink:NamedThing Absent scrotum Congenital absence of the scrotum. hp0009lx5z Absent scrotum Both the sac and rugae are absent. This finding may be accompanied by an (Apparently) absent testis and Cryptorchidism, which should be coded separately. SNOMEDCT_US:249233008|UMLS:C0426320 human_phenotype owl:Class HP:0006392 biolink:NamedThing Increased density of long bones An abnormal increase in the bone density of the long bones. hp0009lx5z Increased density of long bones UMLS:C1849307 human_phenotype owl:Class HP:0001493 biolink:NamedThing Falciform retinal fold An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. hp0009lx5z Congenital retinal fold HP:0008013 UMLS:C0344550|SNOMEDCT_US:204181009 human_phenotype owl:Class HP:0008052 biolink:NamedThing Retinal fold A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. hp0009lx5z Retinal folds peter 2008-04-02T01:37:00Z UMLS:C0229197|SNOMEDCT_US:37480005 human_phenotype owl:Class HP:0010287 biolink:NamedThing Abnormality of the submandibular glands Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles. hp0009lx5z Abnormality of the submaxillary glands peter 2009-07-12T10:41:17Z UMLS:C4023920 human_phenotype owl:Class HP:0001182 biolink:NamedThing Tapered finger The gradual reduction in girth of the finger from proximal to distal. hp0009lx5z Tapering fingers|Tapered fingers|Distally tapering fingers|Tapered finger|Tapered fingertips HP:0006032|HP:0006111|HP:0005800|HP:0006098|HP:0005795|HP:0006125|HP:0007532|HP:0006244|HP:0006080 SNOMEDCT_US:249768009|UMLS:C0426886 human_phenotype owl:Class HP:0100807 biolink:NamedThing Long fingers The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. hp0009lx5z Long fingers doelkens 2011-06-09T01:13:15Z HP:0006010 UMLS:C1858091 human_phenotype owl:Class HP:0000773 biolink:NamedThing Short ribs Reduced rib length. hp0009lx5z Hypoplastic ribs|Rib hypoplasia|Short ribs HP:0000899|HP:0000908|HP:0009750 SNOMEDCT_US:249696007|UMLS:C0426817 human_phenotype owl:Class HP:0009618 biolink:NamedThing Abnormality of the proximal phalanx of the thumb An anomaly of the shape or form of the proximal phalanx of the thumb. hp0009lx5z Abnormal innermost thumb bone|Abnormality of proximal thumb phalanx In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. doelkens 2009-01-29T04:13:47Z HP:0004076 UMLS:C4021421 human_phenotype owl:Class HP:0004380 biolink:NamedThing Aortic valve calcification Deposition of calcium salts in the aortic valve. hp0009lx5z peter 2008-03-18T08:52:00Z HP:0005173|HP:0004759 UMLS:C0428791|SNOMEDCT_US:250978003|MSH:C562942 owl:Class HP:0032535 biolink:NamedThing Cervical (neck) Applies to an abnormality that is situated in the neck. hp0009lx5z 2019-05-27 13:12:21+00:00 peter owl:Class HP:0032824 biolink:NamedThing Neonatal focal tonic seizure Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes. hp0009lx5z peter owl:Class HP:0032821 biolink:NamedThing Neonatal electro-clinical tonic seizure Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes. hp0009lx5z Usually focal, unilateral or bilateral asymmetric. Generalized tonic posturing is often not of epileptic origin. peter owl:Class HP:0006051 biolink:NamedThing Metacarpal periosteal thickening hp0009lx5z UMLS:C1834347 human_phenotype owl:Class HP:0000519 biolink:NamedThing Developmental cataract A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. hp0009lx5z Congenital cataract|Congenital cataracts, bilateral|Congenital cataracts|Cataract, congenital|Clouding of the lens of the eye at birth|Bilateral congenital cataracts In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy. HP:0007788|HP:0007679|HP:0007692|HP:0001108|HP:0007726 UMLS:C3277059|SNOMEDCT_US:79410001|UMLS:C0009691|SNOMEDCT_US:609587005 human_phenotype owl:Class HP:0041159 biolink:NamedThing Fractured rib A partial or complete breakage of the rib. hp0009lx5z bone rib owl:Class HP:0001264 biolink:NamedThing Spastic diplegia Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. hp0009lx5z Spastic diparesis SNOMEDCT_US:281411007|MSH:D002547|UMLS:C0023882 owl:Class HP:0001257 biolink:NamedThing Spasticity A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. hp0009lx5z Muscle spasticity|Involuntary muscle stiffness, contraction, or spasm|Muscular spasticity SNOMEDCT_US:221360009|MSH:D009128|UMLS:C0026838|SNOMEDCT_US:397790002 owl:Class HP:0012211 biolink:NamedThing Abnormal renal physiology An abnormal functionality of the kidney. hp0009lx5z Abnormal kidney function|Abnormal renal function|Abnormality of renal physiology|Renal functional abnormality|Kidney function issue peter 2013-03-14T07:43:34Z HP:0008646|HP:0000087|HP:0005566|HP:0000082 SNOMEDCT_US:39539005|UMLS:C0151746 human_phenotype owl:Class HP:0011277 biolink:NamedThing Abnormality of the urinary system physiology hp0009lx5z peter 2011-12-30T02:51:16Z UMLS:C4023437 human_phenotype owl:Class HP:0009023 biolink:NamedThing Abdominal wall muscle weakness Decreased strength of the abdominal musculature. hp0009lx5z Lax abdominal musculature This may be associated with protuberance of the abdomen. HP:0004873|HP:0001546 UMLS:C4021527 human_phenotype owl:Class HP:0030956 biolink:NamedThing Abnormality of cardiovascular system electrophysiology An anomaly of the electrical conduction physiology of the heart. hp0009lx5z 2017-03-17 17:47:04+00:00 robinp owl:Class HP:0025273 biolink:NamedThing Achilles tendonitis Inflammation of the Achilles tendon. hp0009lx5z 2016-12-18 13:52:07+00:00 HPO:probinson owl:Class HP:0025230 biolink:NamedThing Tendonitis Inflammation of a tendon. hp0009lx5z Teninitis 2016-12-14 11:20:22+00:00 HPO:probinson owl:Class HP:0003765 biolink:NamedThing Psoriasiform dermatitis A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). hp0009lx5z Psoriasis The label Psoriaform dermatitis is used to emphasize that this term is meant to describe the morhpological abnormality of the skin and not all of the manifestations of the disease psoriasis (which can also include itching and nail pitsand other manifestations). SNOMEDCT_US:9014002|UMLS:C0033860|MSH:D011565 owl:Class HP:0410065 biolink:NamedThing Increased level of hippuric acid in blood An increase in the level of hippuric acid in the blood. hp0009lx5z Increased level of N-benzoylglycine in blood 2018-01-29 22:41:34+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0008272 biolink:NamedThing Renal tubular lysine transport defect hp0009lx5z UMLS:C4024714 human_phenotype owl:Class HP:0032291 biolink:NamedThing Monoclonal elevation of intact IgG A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain. hp0009lx5z 2019-02-12 22:39:49+00:00 peter owl:Class HP:0032012 biolink:NamedThing Heterotropia Manifest deviation of the visual axes not controlled by fusion. hp0009lx5z 2018-07-22 15:46:55+00:00 The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia. peter owl:Class HP:0010426 biolink:NamedThing Complete duplication of the middle phalanx of the 2nd toe Complete duplication of middle phalanx of second toe. hp0009lx5z Complete duplication of the middle bone of the 2nd toe doelkens 2009-07-16T12:58:18Z UMLS:C4023833 human_phenotype owl:Class HP:0010412 biolink:NamedThing Duplication of the middle phalanx of the 2nd toe Partial or complete duplication of middle phalanx of second toe. hp0009lx5z Partial/complete duplication of the middle phalanx of the 2nd toe|Duplication of middle bone of 2nd toe doelkens 2009-07-16T12:43:52Z UMLS:C4021273 human_phenotype owl:Class HP:0025045 biolink:NamedThing Abnormal brain lactate level by MRS A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z Abnormal lactate level by magnetic resonance spectroscopy 2016-09-25 16:43:58+00:00 HPO:probinson owl:Class HP:0012705 biolink:NamedThing Abnormal metabolic brain imaging by MRS An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z MRS can only detect a few metabolites as least millimolar concentrations are necessary for the metabolites to be detected. The major brain metabolites detected are choline (Cho), creatine (Cr), N-acetyl aspartate (NAA), lactate, myo-inositol, glutamine and glutamate, lipids, and the amino acids leucine and alanine. peter 2014-03-22T08:04:18Z UMLS:C4022764 human_phenotype owl:Class HP:0010835 biolink:NamedThing Dissociated sensory loss A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. hp0009lx5z Dissociated sensory loss indicates a focal lesion within the spinal cord or brainstem. peter 2010-07-10T07:28:04Z UMLS:C0278136|SNOMEDCT_US:87275002 human_phenotype owl:Class HP:0010020 biolink:NamedThing Irregular epiphysis of the 1st metacarpal Uneven radiographic opacity of the epiphysis of the 1st metacarpal. hp0009lx5z Irregular end part of the 1st long bone of hand doelkens 2009-05-27T04:02:50Z UMLS:C4024103 human_phenotype owl:Class HP:0033579 biolink:NamedThing Decreased growth hormone responses to growth hormone-releasing hormone challenge Insufficient growth hormone secretion following administration of growth hormone-releasing hormone. hp0009lx5z Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge 2021-01-24 14:55:47+00:00 peter owl:Class HP:0033109 biolink:NamedThing Abnormal circulating non-proteinogenic amino acid concentration Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. hp0009lx5z 2020-08-29 12:04:47+00:00 peter owl:Class HP:0003112 biolink:NamedThing Abnormal circulating amino acid concentration The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. hp0009lx5z Abnormality of serum amino acid level|Abnormality of serum amino acid levels UMLS:C4025653 owl:Class HP:0001972 biolink:NamedThing Macrocytic anemia A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). hp0009lx5z Macrocytic anaemia The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. SNOMEDCT_US:83414005|UMLS:C0002886|MSH:D000748 human_phenotype owl:Class HP:0010972 biolink:NamedThing Anemia of inadequate production A kind of anemia characterized by inadequate production of erythrocytes. hp0009lx5z Anaemia of inadequate production|Defective erythropoiesis|Dyserythropoietic anemia|Ineffective erythropoiesis|Anemia, dyserythropoietic|Dyserythropoietic anaemia peter 2011-02-06T02:24:54Z HP:0005504|HP:0005501|HP:0005553 SNOMEDCT_US:70730006|UMLS:C0678199|UMLS:C0392708 human_phenotype owl:Class HP:0008848 biolink:NamedThing Moderately short stature A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. hp0009lx5z Short stature, moderate|Moderate short stature HP:0008891 UMLS:C1861519 human_phenotype owl:Class HP:0100943 biolink:NamedThing Sclerosis of the proximal phalanx of the hallux hp0009lx5z Increased bone density in the innermost bone of the big toe UMLS:C4021915 human_phenotype owl:Class HP:0005310 biolink:NamedThing Large vessel vasculitis A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. hp0009lx5z UMLS:C4025218 human_phenotype owl:Class HP:0100842 biolink:NamedThing Septo-optic dysplasia Underdevelopment of the optic nerve and absence of the septum pellucidum. hp0009lx5z De Morsier syndrome doelkens 2011-06-09T06:44:12Z SNOMEDCT_US:7611002|MSH:D025962|UMLS:C0338503 human_phenotype owl:Class HP:0000609 biolink:NamedThing Optic nerve hypoplasia Underdevelopment of the optic nerve. hp0009lx5z Hypoplastic optic nerves|Underdeveloped optic nerves HP:0007273 SNOMEDCT_US:95499004|UMLS:C0338502 human_phenotype owl:Class HP:0009210 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 5th finger A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-01-05T05:22:18Z UMLS:C4024530 human_phenotype owl:Class HP:0010264 biolink:NamedThing Pseudoepiphyses of the middle phalanges of the hand A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-07-06T04:24:15Z UMLS:C4023937 human_phenotype owl:Class HP:0410282 biolink:NamedThing Abnormal circulating amylase level A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. hp0009lx5z 2018-12-04 01:35:56+00:00 owl:Class HP:0033687 biolink:NamedThing Short term memory impairment A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds). hp0009lx5z Short term memory loss 2021-03-07 22:47:14+00:00 The impairment of short term memory (STM) involves forgetting information to which the subject has been recently exposed. An individual with signs of losing STM, indeed, asks for the same questions repeatedly, forgets where he just put something, forgets recent events or something he saw or read recently. The loss of immediate memory is also termed as fixation amnesia. Practically, STM works as a kind of scratchpad for temporary recall of a limited number of data that come from the sensory register and are ready to be processed through attention and recognition. On the other side, information collected in the long term memory (LTM) storage consist of memories for the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that). peter owl:Class HP:0000288 biolink:NamedThing Abnormality of the philtrum An abnormality of the philtrum. hp0009lx5z Abnormality of the infranasal depression|Abnormality of the paralabial region|Abnormal philtrum The paralabial region is the region surrounding the lips and includes the philtrum. HP:0011216 UMLS:C1857045 human_phenotype owl:Class HP:0000177 biolink:NamedThing Abnormality of upper lip An abnormality of the upper lip. hp0009lx5z Deformity of the upper lip|Anomaly of the upper lip|Abnormality of upper lip|Malformation of the upper lip UMLS:C4025884 human_phenotype owl:Class HP:0032985 biolink:NamedThing Dust particle inclusion in alveolar macrophages Accumulation of inhaled, nondigestable particles in macrophages. hp0009lx5z This can be recognized in May-Grunwald-Giemsa routine stains. Rarey and for special indications, BAL can be further analysed to identify and quantify dust exposure. X-ray microprobe analysis identified particles which related to the known exposures, superimposed on a background of other particles related to smoking (kaolinite and mica) or to the general environment (silicon, titanium, and iron). Inhaled dust can follow in fibrous tissue and scarring which follow in impaired lung function. peter owl:Class HP:0032984 biolink:NamedThing Abnormal alveolar macrophage morphology Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles. hp0009lx5z peter owl:Class HP:0030030 biolink:NamedThing Absent ray The absence of all phalanges of a digit and the associated metacarpal /metatarsal. hp0009lx5z This descriptor requires, in addition to the absence of the phalanges, absence of the metacarpal or metatarsal. Compare this to Absent thumb, Absent hallux, Absent toes, and Absent fingers. In most cases, the absent metacarpal or metatarsal can be assessed by palpation, but in some cases radiographs may be useful. This definition excludes Split hand and Split foot. If a patient meets the definition of either of those terms, they should be used and Absent ray should not. UMLS:C4022668 owl:Class HP:0030269 biolink:NamedThing Increased serum insulin-like growth factor 1 An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation. hp0009lx5z Elevated serum IGF1|Increased serum insulin-like growth factor 1|Increased serum IGF1 Growth hormone and IGF-I are important regulators of bone homeostasis throughout life. During the prepubertal period, GH and IGF-I are determinants of longitudinal bone growth, skeletal maturation, and acquisition of bone mass, whereas in adults they are important in the maintenance of bone mass. UMLS:C2676198 owl:Class HP:0030352 biolink:NamedThing Abnormal serum insulin-like growth factor 1 level An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. hp0009lx5z UMLS:C4072896 owl:Class HP:0010401 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 2nd toe hp0009lx5z Fused innermost bone of the 2nd toe doelkens 2009-07-16T11:58:15Z UMLS:C4023853 human_phenotype owl:Class HP:0010353 biolink:NamedThing Symphalangism affecting the phalanges of the 2nd toe Fusion of the interphalangeal joints of the 2nd toe. hp0009lx5z Fused bones of 2nd toe doelkens 2009-07-16T11:45:34Z UMLS:C4023887 human_phenotype owl:Class HP:0030042 biolink:NamedThing Incomplete ossification of pubis Failure to complete ossification (maturation and calcification) of the pubic bone. hp0009lx5z Incomplete maturation of the pubic bone SNOMEDCT_US:373940002|UMLS:C0685678 owl:Class HP:0009105 biolink:NamedThing Abnormal ossification of the pubic bone Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis. hp0009lx5z Abnormal maturation of the pubic bone peter 2008-04-04T08:41:00Z UMLS:C4280403|UMLS:C4024596 human_phenotype owl:Class HP:0004906 biolink:NamedThing Hypernatremic dehydration hp0009lx5z SNOMEDCT_US:427784006|UMLS:C1850544 human_phenotype owl:Class HP:0100443 biolink:NamedThing Curved middle phalanx of the 3rd toe A deviation from the normal straight form of the middle phalanx of the third toe. hp0009lx5z Curved middle bone of 3rd toe UMLS:C4022084 human_phenotype owl:Class HP:0010362 biolink:NamedThing Curved 3rd toe phalanx A deviation from the normal straight form of one or more phalanges of the third toe. hp0009lx5z Curved phalanges of the 3rd toe|Curved bones of 3rd toe doelkens 2009-07-16T11:51:17Z UMLS:C4021284 human_phenotype owl:Class HP:0003194 biolink:NamedThing Short nasal bridge Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. hp0009lx5z Short bridge of nose|Decreased length of nasal bridge|Short nasal bridge|Decreased length of bridge of nose UMLS:C1854689 owl:Class HP:0031791 biolink:NamedThing Lenticular astigmatism A type of astigmatism related to an irregular shape of the lens. hp0009lx5z 2018-01-28 13:40:22+00:00 peter owl:Class HP:0040215 biolink:NamedThing Abnormal circulating insulin level An abnormal concentration of insulin in the blood. hp0009lx5z UMLS:C4073161 owl:Class HP:0040214 biolink:NamedThing Abnormal insulin level An abnormal concentration of insulin in the body. hp0009lx5z UMLS:C4073160 owl:Class HP:0100629 biolink:NamedThing Midline facial cleft A congenital malformation with a cleft (gap or opening) in the midline of the face. hp0009lx5z Midline facial cleft Midline facial clefts correspond to Tessier number 0,14, and 30. doelkens 2010-12-29T02:23:01Z UMLS:C4022007 human_phenotype owl:Class HP:0002006 biolink:NamedThing Facial cleft A congenital malformation with a cleft (gap or opening) in the face. hp0009lx5z Cleft of the face|Facial clefts|Facial cleft|Tessier facial cleft The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations. SNOMEDCT_US:92821006|UMLS:C0685787 human_phenotype owl:Class HP:0007266 biolink:NamedThing Cerebral dysmyelination Defective structure and function of myelin sheaths of the white matter of the brain. hp0009lx5z Dysmyelination of the brain|Areas of dysmyelination on MRI|White matter dysmyelination/demyelination HP:0007217|HP:0007134 UMLS:C4020810|UMLS:C1854885 owl:Class HP:0002500 biolink:NamedThing Abnormal cerebral white matter morphology An abnormality of the cerebral white matter. hp0009lx5z White matter alterations|White matter abnormalities|Cerebral white matter abnormalities|Abnormality of subcortical white matter|Leukoaraiosis|Abnormality of the cerebral white matter|Cortical white matter abnormalities seen on MRI This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. HP:0200100 UMLS:C4020851|UMLS:C0948163|MSH:D049292 human_phenotype owl:Class HP:0100533 biolink:NamedThing Inflammatory abnormality of the eye Inflammation of the eye, parts of the eye or the periorbital region. hp0009lx5z Ocular inflammation|Inflammatory abnormality of the eye doelkens 2010-12-20T03:53:42Z HP:0007891 UMLS:C4020969 human_phenotype owl:Class HP:0011675 biolink:NamedThing Arrhythmia Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. hp0009lx5z Cardiac rhythm disturbances|Cardiac arrhythmia|Heart rhythm disorders|Cardiac arrhythmias|Abnormal heart rate|Arrhythmias|Irregular heartbeat|Irregular heart beat peter 2012-04-09T12:47:32Z HP:0001687|HP:0004351|HP:0001656|HP:0005158|HP:0001665|HP:0001666|HP:0001661|HP:0001721|HP:0001675 SNOMEDCT_US:102594003|UMLS:C0855329|UMLS:C0264886|SNOMEDCT_US:698247007|MSH:C562490|UMLS:C0003811|SNOMEDCT_US:44808001|UMLS:C1842820|UMLS:C0522055|MSH:D001145|UMLS:C1832603 human_phenotype owl:Class HP:0100636 biolink:NamedThing Pulmonary paraglioma A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells. hp0009lx5z doelkens 2010-12-29T05:23:34Z UMLS:C4022004 human_phenotype owl:Class HP:0011742 biolink:NamedThing Ectopic adrenal gland Abnormal anatomical location of the adrenal gland. hp0009lx5z Abnormal adrenal gland position peter 2012-04-21T09:45:15Z UMLS:C0266275|SNOMEDCT_US:49494003 human_phenotype owl:Class HP:0004452 biolink:NamedThing Abnormality of the middle ear ossicles An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). hp0009lx5z Malformed ossicles|Ossicular malformation HP:0001759 UMLS:C1836678 human_phenotype owl:Class HP:0008609 biolink:NamedThing Morphological abnormality of the middle ear An abnormality of the morphology or structure of the middle ear. hp0009lx5z Morphological abnormality of the middle ear|Middle ear malformation UMLS:C1857456 human_phenotype owl:Class HP:0004254 biolink:NamedThing Delayed ossification of the trapezium Formation of bone tissue of trapezium is less than expected for age. hp0009lx5z Delayed maturation of the trapezium UMLS:C4021669 human_phenotype owl:Class HP:0045001 biolink:NamedThing Abnormal ossification of the trapezium hp0009lx5z HPO:skoehler UMLS:C4022409 owl:Class HP:0009376 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 5th finger Aplasia/Hypoplasia of the phalanges of the 5th finger. hp0009lx5z Absent/small pinkie finger bones|Absent/small pinky finger bones|Absent/underdeveloped pinky finger bones|Absent/small little finger bones doelkens 2009-01-13T11:58:25Z UMLS:C4024410 human_phenotype owl:Class HP:0025221 biolink:NamedThing Triggered by pregnancy Applies to a sign or symptom that is provoked or brought about by pregnancy in a female. hp0009lx5z Triggered by pregnancy|Pregnancy triggered symptoms 2016-12-10 14:06:54+00:00 HPO:probinson owl:Class HP:0410375 biolink:NamedThing Increased proportion of naive CD4 T cells hp0009lx5z Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells|Increased proportion of CD4+CD45RA+ cells|Elevated proportion of naive CD4 T cells An abnormally increased proportion of naive CD4 T cells relative to the total number of T cells. owl:Class HP:0011165 biolink:NamedThing Focal sensory seizure with visual features A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. hp0009lx5z Visual auras|Visual aura|Focal visual seizure|Simple partial occipital seizures|Partial visual seizure More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments. peter 2011-10-18T02:31:15Z HP:0025121|HP:0007175 UMLS:C1850765 human_phenotype owl:Class HP:3000046 biolink:NamedThing Abnormality of geniohyoid muscle An abnormality of a geniohyoid muscle. hp0009lx5z vasilevs 2015-08-07T01:04:58Z UMLS:C4073254 human_phenotype owl:Class HP:0003530 biolink:NamedThing Elevated circulating glutaric acid concentration An increased concentration of glutaric acid in the blood. hp0009lx5z Glutarate acidemia|Glutaric acidemia UMLS:C4025603 owl:Class HP:0009962 biolink:NamedThing Duplication of the distal phalanx of the 3rd finger Partial or complete duplication of the distal phalanx of middle finger. hp0009lx5z Partial/complete duplication of the outermost bone of the middle finger|Partial/complete duplication of the distal phalanx of the 3rd finger doelkens 2009-05-26T12:46:36Z UMLS:C4021363 human_phenotype owl:Class HP:0410034 biolink:NamedThing Bilateral alveolar cleft of maxilla Nonmidline alveolar cleft of the maxilla. hp0009lx5z 2017-06-20 23:37:09+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0007460 biolink:NamedThing Autoamputation of digits hp0009lx5z UMLS:C1852289 human_phenotype owl:Class HP:0011630 biolink:NamedThing Complete diaphragmatic absence of pericardium No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. hp0009lx5z peter 2012-04-08T10:06:57Z UMLS:C4023259 human_phenotype owl:Class HP:0009250 biolink:NamedThing Absent epiphysis of the distal phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger. hp0009lx5z Absent end part of the outermost bone of the ring finger doelkens 2009-01-07T12:07:34Z UMLS:C4024497 human_phenotype owl:Class HP:0004197 biolink:NamedThing Symphalangism of the 4th finger Fusion of two or more bones of the 4th finger. hp0009lx5z Fused ring finger bones|Symphalangism of the ring finger UMLS:C4021679 human_phenotype owl:Class HP:0009172 biolink:NamedThing Abnormal 4th finger phalanx morphology Abnormality of the phalanges of the 4th (ring) finger. hp0009lx5z Abnormal bones of 4th finger|Abnormality of the phalanges of the ring finger doelkens 2009-01-05T04:18:24Z HP:0004191 UMLS:C4021516 human_phenotype owl:Class HP:0012749 biolink:NamedThing Focal T2 hypointense brainstem lesion A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem. hp0009lx5z peter 2014-03-30T06:43:56Z UMLS:C4022747 human_phenotype owl:Class HP:0012747 biolink:NamedThing Abnormal brainstem MRI signal intensity A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. hp0009lx5z peter 2014-03-30T06:41:13Z UMLS:C4022749 human_phenotype owl:Class HP:0040075 biolink:NamedThing Hypopituitarism hp0009lx5z HPO:skoehler UMLS:C0020635|MSH:D007018|SNOMEDCT_US:74728003 owl:Class HP:0011747 biolink:NamedThing Abnormality of the anterior pituitary An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. hp0009lx5z Pituitary disease peter 2012-04-22T11:17:00Z UMLS:C0032002|UMLS:C4023206|SNOMEDCT_US:399244003|MSH:D010900 human_phenotype owl:Class HP:0001232 biolink:NamedThing Nail bed telangiectasia Telangiectases in the area of the nails. hp0009lx5z Nail bed telangiectases UMLS:C1838167 owl:Class HP:0031090 biolink:NamedThing Finger dactylitis Fingers appear swollen and plump owing to inflammation of the complete finger. hp0009lx5z Sausage fingers 2017-05-29 00:57:56+00:00 peter owl:Class HP:0025315 biolink:NamedThing Exacerbated by head trauma Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma. hp0009lx5z 2016-12-21 02:22:58+00:00 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease is an autosomal recessive disorder characterized by ataxia, spasticity, and variable optic atrophy. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma. HPO:probinson owl:Class HP:0001680 biolink:NamedThing Coarctation of aorta Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. hp0009lx5z Narrowing of aorta|Narrowing of the aorta|Coarctation of the aorta|Aortic coarctation Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient. SNOMEDCT_US:7305005|MSH:D001017|UMLS:C0003492 human_phenotype owl:Class HP:0006180 biolink:NamedThing Crowded carpal bones hp0009lx5z Crowded wrist bones UMLS:C1863317 human_phenotype owl:Class HP:0009293 biolink:NamedThing Broad middle phalanx of the 4th finger Increased width of the middle phalanx of the 4th finger. hp0009lx5z Broad middle bone of the 4th finger doelkens 2009-01-08T04:59:22Z UMLS:C4024463 human_phenotype owl:Class HP:0032728 biolink:NamedThing Focal impaired awareness atonic seizure A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0002069 biolink:NamedThing Bilateral tonic-clonic seizure A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. hp0009lx5z Generalised tonic-clonic seizure (without specification of onset)|Bilateral convulsive seizures|Generalized tonic-clonic seizure (without specification of onset)|Seizures, tonic-clonic|Generalized convulsion|Tonic-clonic convulsions|Grand mal seizures|Tonic-clonic convulsion|Generalised convulsion|Grand mal A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. HP:0001306|HP:0007252|HP:0002407 UMLS:C0494475|SNOMEDCT_US:54200006|MSH:D012640 owl:Class HP:0001250 biolink:NamedThing Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. hp0009lx5z Seizures|Epilepsy|Epileptic seizure A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. HP:0002417|HP:0002125|HP:0002279|HP:0002479|HP:0001303|HP:0002794|HP:0002431|HP:0002437|HP:0002430|HP:0010520|HP:0002348|HP:0006997|HP:0002306|HP:0002391|HP:0002182|HP:0002432|HP:0001275|HP:0002434|HP:0002466 MSH:D012640|SNOMEDCT_US:246545002|MSH:D004827|UMLS:C0014544|SNOMEDCT_US:313307000|SNOMEDCT_US:84757009|UMLS:C0036572|SNOMEDCT_US:91175000|SNOMEDCT_US:128613002 human_phenotype owl:Class HP:0006252 biolink:NamedThing Interphalangeal joint erosions hp0009lx5z UMLS:C1850158 human_phenotype owl:Class HP:0012738 biolink:NamedThing Agenesis of canine Agenesis of canine tooth. hp0009lx5z Absence of canine|Failure of development of eye tooth|Missing canine|Absence of eye tooth|Missing eye tooth|Absent canines|Failure of development of canine peter 2014-03-23T04:26:04Z UMLS:C4021072|UMLS:C4280311 human_phenotype owl:Class HP:0011078 biolink:NamedThing Abnormality of canine An abnormality of canine tooth. hp0009lx5z Abnormality of canine|Abnormality of eye tooth peter 2011-03-11T09:58:41Z UMLS:C4023546 human_phenotype owl:Class HP:0041057 biolink:NamedThing Transient decreased circulating IgG4 A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation. hp0009lx5z Transient decreased IgG4 in blood owl:Class HP:0032138 biolink:NamedThing Decreased circulating IgG4 level A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation. hp0009lx5z Decreased IgG4 level in blood 2018-11-22 14:29:39+00:00 peter owl:Class HP:0003517 biolink:NamedThing Birth length greater than 97th percentile hp0009lx5z Foetal overgrowth|Fetal overgrowth UMLS:C1839271 human_phenotype owl:Class HP:0000098 biolink:NamedThing Tall stature A height above that which is expected according to age and gender norms. hp0009lx5z Accelerated linear growth|Increased linear growth|Tall stature|Increased body height peter 2008-02-27T02:21:00Z HP:0003516|HP:0001527|HP:0003515 UMLS:C0241240|SNOMEDCT_US:248328003 human_phenotype owl:Class HP:0001765 biolink:NamedThing Hammertoe Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. hp0009lx5z Hammertoes|Hammertoe|Hammer toe UMLS:C1136179|SNOMEDCT_US:122481008|MSH:D037801 human_phenotype owl:Class HP:0030637 biolink:NamedThing Congenital stationary cone dysfunction Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. hp0009lx5z Cone dysfunction|Cone dysfunction syndrome UMLS:C0543968 owl:Class HP:0025329 biolink:NamedThing Anti-glutamic acid decarboxylase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. hp0009lx5z Anti-GAD antibody positivity 2017-02-11 11:15:35+00:00 The enzyme called glutamate decarboxylase or glutamic acid decarboxylase (GAD) catalyyzes the conversion of glutamate to gamma aminobutyric acid (g-Amino butyric acid, GABA). Autoantibodies against GAD this antibody may block the conversion of glutamate to GABA. and lead to a reduction in the amount of GABA in the nervous system. HPO:probinson owl:Class HP:0003065 biolink:NamedThing Patellar hypoplasia Underdevelopment of the patella. hp0009lx5z Small kneecap|Small patellae|Underdeveloped kneecap|Small patella|Hypoplastic patellae HP:0005020 UMLS:C1840068 human_phenotype owl:Class HP:0004276 biolink:NamedThing Exostoses of hand bones Abnormal formation of new bone on the surface of a bone of the hand. hp0009lx5z UMLS:C4025375 human_phenotype owl:Class HP:0004323 biolink:NamedThing Abnormality of body weight An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. hp0009lx5z Abnormality of body weight|Abnormality of habitus peter 2008-02-27T03:21:00Z HP:0010718 UMLS:C0878621|UMLS:C4025357 human_phenotype owl:Class HP:0010062 biolink:NamedThing Osteolytic defects of the phalanges of the hallux hp0009lx5z doelkens 2009-05-29T12:10:46Z UMLS:C4024078 human_phenotype owl:Class HP:0010235 biolink:NamedThing Pseudoepiphyses of the phalanges of the hand A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z Pseudoepiphysis of the fingers doelkens 2009-07-06T03:31:52Z HP:0009366 UMLS:C4021306 human_phenotype owl:Class HP:0010139 biolink:NamedThing Bracket epiphysis of the distal phalanx of the hallux The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. hp0009lx5z Bracket shaped end part of the outermost bone of big toe doelkens 2009-05-29T01:22:47Z UMLS:C4024020 human_phenotype owl:Class HP:0009853 biolink:NamedThing Bullet-shaped proximal phalanges of the hand Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped innermost finger bones of the hand doelkens 2009-03-11T12:16:33Z HP:0009861 UMLS:C4024180 human_phenotype owl:Class HP:0004918 biolink:NamedThing Hyperchloremic metabolic acidosis A form of metabolic acidosis with increased serum chloride levels. hp0009lx5z Non-gap acidosis UMLS:C1969073 owl:Class HP:0002683 biolink:NamedThing Abnormality of the calvaria Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. hp0009lx5z Abnormality of the skullcap|Abnormality of cranium|Abnormality of calvarium|Abnormality of cranial vault|Abnormality of the skull cap The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. UMLS:C4280561|UMLS:C4025691 human_phenotype owl:Class HP:0005746 biolink:NamedThing Osteosclerosis of the base of the skull An increase in bone density affecting the basicranium (base of the skull). hp0009lx5z Osteosclerosis of the skull base Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull. UMLS:C4021624 human_phenotype owl:Class HP:0030345 biolink:NamedThing Abnormal circulating luteinizing hormone concentration An anomaly of the circulating level of luteinizing hormone (LH). hp0009lx5z Abnormal luteinizing hormone level|Abnormal circulating luteinizing hormone level|Increased circulating lutropin UMLS:C0580438|SNOMEDCT_US:166374003 owl:Class HP:0000893 biolink:NamedThing Bulging of the costochondral junction Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. hp0009lx5z The costochondral junction is the structure where the ribs articulate with the sternum. UMLS:C1848538 human_phenotype owl:Class HP:0031953 biolink:NamedThing Cautious gait Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen. hp0009lx5z Senile gait 2018-07-07 13:46:20+00:00 peter owl:Class HP:0031783 biolink:NamedThing Absent coronary sinus A developmental defect in which the coronary sinus fails to form. hp0009lx5z 2018-01-28 12:02:56+00:00 peter Fyler:2841 owl:Class HP:0011642 biolink:NamedThing Abnormal coronary sinus morphology An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium. hp0009lx5z Abnormality of the coronary sinus peter 2012-04-09T09:02:09Z UMLS:C0344680|SNOMEDCT_US:253323000|Fyler:2840 human_phenotype owl:Class HP:0000111 biolink:NamedThing Renal juxtaglomerular cell hypertrophy/hyperplasia Increased number and size of the juxtaglomerular cells. hp0009lx5z UMLS:C1866496 human_phenotype owl:Class HP:0003610 biolink:NamedThing Fibroblast metachromasia Increased cytoplasmic staining of fibroblasts with toluidine blue. hp0009lx5z Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia. UMLS:C1835008 human_phenotype owl:Class HP:0005185 biolink:NamedThing Global systolic dysfunction A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly. hp0009lx5z UMLS:C1847397 human_phenotype owl:Class HP:0006673 biolink:NamedThing Reduced systolic function hp0009lx5z UMLS:C4025008 human_phenotype owl:Class HP:0025281 biolink:NamedThing Sharp Applied to pain that is described as sharp, i.e., sudden and severe. hp0009lx5z 2016-12-18 15:23:03+00:00 HPO:probinson owl:Class HP:0025280 biolink:NamedThing Pain characteristic A pain characteristic is defined as a subjective category or type of pain. hp0009lx5z 2016-12-18 15:21:51+00:00 HPO:probinson owl:Class HP:0025570 biolink:NamedThing Choroidal vascular hyperpermeability Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA). hp0009lx5z Choroidal hyperpermeability 2017-12-14 13:49:33+00:00 HPO:probinson owl:Class HP:0025568 biolink:NamedThing Abnormal morphology of the choroidal vasculature hp0009lx5z 2017-12-14 13:37:50+00:00 HPO:probinson owl:Class HP:0011988 biolink:NamedThing Ectopic ossification in tendon tissue Formation of abnormal bony tissue within tendon tissue. hp0009lx5z peter 2012-07-19T10:47:01Z UMLS:C4023095 human_phenotype owl:Class HP:0011986 biolink:NamedThing Ectopic ossification Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. hp0009lx5z Ectopic bone formation|Heterotopic ossification peter 2012-07-19T10:38:25Z UMLS:C0029396|MSH:D009999|SNOMEDCT_US:128491006|MEDDRA:10065453 human_phenotype owl:Class HP:0031661 biolink:NamedThing Abnormal second heart sound Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration. hp0009lx5z 2017-12-17 16:06:41+00:00 peter owl:Class HP:0031683 biolink:NamedThing Type VI atherosclerotic lesion Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes. hp0009lx5z 2017-12-17 17:45:52+00:00 Morbidity and mortality from atherosclerosis is largely due to type IV and type V lesions in which disruptions of the lesion surface, hematoma or hemorrhage, and thrombotic deposits have developed. Type IV or V lesions with one or more of these additional features are classified as type VI and may also be referred to as complicated lesions. Type VI may be subdivided by the superimposed features. Thus, disruption of the surface may be labeled type VIa; hematoma or hemorrhage, type VIb; and thrombosis, type VIc. Type VIabc indicates the presence of all three features. peter owl:Class HP:0031678 biolink:NamedThing Atherosclerotic lesion A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus. hp0009lx5z 2017-12-17 17:19:49+00:00 peter owl:Class HP:0002664 biolink:NamedThing Neoplasm An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). hp0009lx5z Oncological abnormality|Tumor|Oncology|Cancer|Tumour|Neoplasia|Abnormal tissue mass The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. HP:0003008|HP:0006741 MSH:D009369|UMLS:C0006826|SNOMEDCT_US:363346000|UMLS:C0027651|NCIT:C3262|SNOMEDCT_US:108369006 human_phenotype owl:Class HP:0006413 biolink:NamedThing Broad tibial metaphyses hp0009lx5z Broad wide portion of shankbone|Broad wide portion of shinbone UMLS:C2678328 human_phenotype owl:Class HP:0006491 biolink:NamedThing Abnormality of the tibial metaphysis hp0009lx5z Abnormality of the wide portion of shinbone|Abnormality of the wide portion of shankbone peter 2008-03-28T06:03:00Z UMLS:C4025038 human_phenotype owl:Class HP:0011691 biolink:NamedThing Supraventricular tachycardia with a concealed accessory pathway on the left free wall hp0009lx5z peter 2012-04-10T10:36:49Z UMLS:C4023230 human_phenotype owl:Class HP:0011689 biolink:NamedThing Supraventricular tachycardia with a concealed accessory connection Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm. hp0009lx5z Supraventricular tachycardia with a concealed accessory connexion peter 2012-04-10T10:35:31Z UMLS:C4023231 human_phenotype owl:Class HP:0030391 biolink:NamedThing Spoken word recognition deficit Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. hp0009lx5z UMLS:C4072928 owl:Class HP:0002463 biolink:NamedThing Language impairment Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. hp0009lx5z Language impairment|Language disorder MSH:D007806|SNOMEDCT_US:62305002|UMLS:C0023015 human_phenotype owl:Class HP:0004375 biolink:NamedThing Neoplasm of the nervous system A tumor (abnormal growth of tissue) of the nervous system. hp0009lx5z Nervous system cancer|Neoplasia of the nervous system|Tumor of the nervous system|Tumour of the nervous system peter 2008-03-18T07:38:00Z UMLS:C0027766|NCIT:C3262|MSH:D009423|SNOMEDCT_US:126950007 human_phenotype owl:Class HP:0009335 biolink:NamedThing Absent epiphysis of the distal phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger. hp0009lx5z Absent end part of the outermost bone of the middle finger doelkens 2009-01-12T11:18:33Z UMLS:C4024432 human_phenotype owl:Class HP:0009332 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 3rd finger hp0009lx5z Abnormality of the end part of the outermost bone of the middle finger doelkens 2009-01-12T11:16:06Z UMLS:C4024435 human_phenotype owl:Class HP:0004327 biolink:NamedThing Abnormal vitreous humor morphology Any structural anomaly of the vitreous body. hp0009lx5z Abnormal vitreous humour morphology The vitreous humor is the clear gel that fills the space between the lens and the retina. peter 2008-02-27T04:20:00Z UMLS:C4025356 human_phenotype owl:Class HP:0009881 biolink:NamedThing Aplasia of the distal phalanges of the hand hp0009lx5z Aplasia of outermost hand bone|Absent distal phalanges of the hand|Absent outermost hand bone doelkens 2009-04-24T04:29:30Z UMLS:C4024173 human_phenotype owl:Class HP:0005253 biolink:NamedThing Increased anterioposterior diameter of thorax hp0009lx5z Increased anterioposterior diameter of chest UMLS:C1848760 human_phenotype owl:Class HP:0100625 biolink:NamedThing Enlarged thorax hp0009lx5z Wide thorax|Wide rib cage doelkens 2010-12-28T04:14:55Z UMLS:C4020962 human_phenotype owl:Class HP:0100106 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 2nd toe hp0009lx5z Increased bone density of end part of the outermost bone of the 2nd toe doelkens 2010-06-24T10:04:20Z UMLS:C4022315 human_phenotype owl:Class HP:0033121 biolink:NamedThing Barking cough A cough with a characteristic sound that has been compared to a seal's bark. hp0009lx5z Seal-like barking cough 2020-09-03 12:36:41+00:00 peter owl:Class HP:0012735 biolink:NamedThing Cough A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. hp0009lx5z Coughing|Cough The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. peter 2014-03-23T03:19:50Z MSH:D003371|SNOMEDCT_US:49727002|SNOMEDCT_US:272039006|UMLS:C0010200|SNOMEDCT_US:263731006 owl:Class HP:0025495 biolink:NamedThing Descending aorta hypoplasia Significant luminal narrowing of a long segment of the descending aorta. hp0009lx5z 2017-05-14 19:49:11+00:00 Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta. HPO:probinson owl:Class HP:0031934 biolink:NamedThing Abnormal descending aorta morphology A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen. hp0009lx5z 2018-07-04 20:44:36+00:00 peter owl:Class HP:0032367 biolink:NamedThing Abnormal growth hormone level Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful. hp0009lx5z Abnormal somatotropin level 2019-02-23 18:15:25+00:00 peter owl:Class HP:0100954 biolink:NamedThing Open operculum Underdevelopment of the operculum. hp0009lx5z doelkens 2011-12-02T04:55:20Z UMLS:C2675973 human_phenotype owl:Class HP:0025271 biolink:NamedThing Esophageal spasms Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful. hp0009lx5z 2016-12-18 13:45:05+00:00 HPO:probinson owl:Class HP:0030039 biolink:NamedThing Fused thoracic vertebrae A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another. hp0009lx5z UMLS:C4022664 owl:Class HP:0002948 biolink:NamedThing Vertebral fusion A developmental defect leading to the union of two adjacent vertebrae. hp0009lx5z Fused vertebrae|Fusion of vertebral bodies|Vertebral body fusion|Spinal fusion HP:0008485|HP:0008471|HP:0002807 UMLS:C1849073|UMLS:C3278509|UMLS:C1835763 human_phenotype owl:Class HP:0010416 biolink:NamedThing Curved distal phalanx of the 2nd toe A deviation from the normal straight form of the distal phalanx of the 2nd toe. hp0009lx5z Curved outermost bone of the 2nd toe doelkens 2009-07-16T12:44:41Z UMLS:C4023840 human_phenotype owl:Class HP:0010350 biolink:NamedThing Curved 2nd toe phalanx A deviation from the normal straight form of one or more phalanges of the second toe. hp0009lx5z Curved phalanges of the 2nd toe|Curved bones of the 2nd toe doelkens 2009-07-16T11:45:34Z UMLS:C4021288 human_phenotype owl:Class HP:0100220 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 5th toe hp0009lx5z doelkens 2010-06-24T05:04:00Z UMLS:C4022201 human_phenotype owl:Class HP:0020220 biolink:NamedThing Focal atonic seizure A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature. hp0009lx5z Partial hypotonic seizure|Localized atonic seizure|Localised atonic seizure|Localised hypotonic seizure|Partial atonic seizure|Segmental atonic seizure|Localized hypotonic seizure|Segmental hypotonic seizure robinp 2020-02-24 14:54:22+00:00 owl:Class HP:0100082 biolink:NamedThing Irregular epiphyses of the 5th toe hp0009lx5z Irregular end part of the little toe bone|Irregular end part of the pinky toe bone|Irregular end part of the pinkie toe bone doelkens 2010-06-24T10:00:02Z UMLS:C4022339 human_phenotype owl:Class HP:0030236 biolink:NamedThing Abnormality of muscle size Abnormalities of the overall muscle bulk based on clinical observation. hp0009lx5z Abnormality of muscle size UMLS:C4022563 owl:Class HP:0010259 biolink:NamedThing Cone-shaped epiphyses of the middle phalanges of the hand hp0009lx5z Cone-shaped end part of the middle hand bones|Cone-shaped epiphyses of middle phalanges doelkens 2009-07-06T04:24:15Z HP:0006033|HP:0006058 UMLS:C1860828 human_phenotype owl:Class HP:0010230 biolink:NamedThing Cone-shaped epiphyses of the phalanges of the hand A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. hp0009lx5z Coned epiphyses of hands|Coned epiphyses|Cone-shaped epiphyses of phalanges|Phalangeal cone-shaped epiphyses|Conical phalangeal epiphyses|Cone-shaped end part of finger bones|Cone-shaped epiphyses of hand|Cone-shaped epiphyses of the fingers|Cone-shaped phalangeal epiphyses doelkens 2009-07-06T03:31:52Z HP:0009361|HP:0003766|HP:0001175|HP:0001242|HP:0001207|HP:0005803 UMLS:C1859480 human_phenotype owl:Class HP:0002310 biolink:NamedThing Orofacial dyskinesia hp0009lx5z Orofacial dyskinesias MSH:D020820|UMLS:C0152115|SNOMEDCT_US:49386006 human_phenotype owl:Class HP:0100660 biolink:NamedThing Dyskinesia A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. hp0009lx5z Dyskinesias|Dyskinesis|Disorder of involuntary muscle movements doelkens 2010-12-30T11:46:50Z UMLS:C0013384|SNOMEDCT_US:9748009|MSH:D020820 human_phenotype owl:Class HP:0031640 biolink:NamedThing Abnormal radial artery morphology Any structural anomaly of the radial artery. hp0009lx5z 2017-12-17 13:30:31+00:00 peter owl:Class HP:0032920 biolink:NamedThing Focal impaired awareness manual automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset. hp0009lx5z peter owl:Class HP:0032900 biolink:NamedThing Focal manual automatism seizure A type of focal automatism seizure characterized by manual automatisms at onset. hp0009lx5z These may include involuntary unilateral or bilateral, fumbling, tapping, manipulating, or exploratory movements of the hands. peter owl:Class HP:0001677 biolink:NamedThing Coronary artery atherosclerosis Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. hp0009lx5z Coronary atherosclerosis|Coronary disease|Plaque build-up in arteries supplying blood to heart Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction. HP:0005138|HP:0004929 SNOMEDCT_US:414024009|UMLS:C1956346|MSH:D003324|SNOMEDCT_US:53741008 human_phenotype owl:Class HP:0003998 biolink:NamedThing Constricted radial neck hp0009lx5z UMLS:C4025458 human_phenotype owl:Class HP:0003999 biolink:NamedThing Abnormality of radial epiphyses hp0009lx5z Abnormality of radial epiphyseal plates HP:0004011 UMLS:C4021694 human_phenotype owl:Class HP:0006706 biolink:NamedThing Cystic liver disease hp0009lx5z peter 2008-03-29T03:37:00Z MSH:C536330|UMLS:C0158683|SNOMEDCT_US:72925005 owl:Class HP:0003549 biolink:NamedThing Abnormality of connective tissue Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). hp0009lx5z UMLS:C4025596 human_phenotype owl:Class HP:0000207 biolink:NamedThing Triangular mouth The presence of a triangular form of the mouth. hp0009lx5z Triangular mouth|Triangular shaped mouth|Triangular shaped oral aperture UMLS:C1849341 human_phenotype owl:Class HP:0011338 biolink:NamedThing Abnormality of mouth shape An abnormality of the outline, configuration, or contour of the mouth. hp0009lx5z Unusual mouth shape|Abnormality of mouth shape|Anomaly of mouth shape peter 2012-02-26T01:05:23Z UMLS:C4023407|Fyler:4874 human_phenotype owl:Class HP:0200138 biolink:NamedThing Bilateral choanal atresia/stenosis hp0009lx5z sebastiankohler 2013-06-12T11:08:52Z UMLS:C4021884 human_phenotype owl:Class HP:0000452 biolink:NamedThing Choanal stenosis Abnormal narrowing of the choana (the posterior nasal aperture). hp0009lx5z Narrowing of the rear opening of the nasal cavity|Coanal stenosis SNOMEDCT_US:306963008|UMLS:C0584837 human_phenotype owl:Class HP:0033253 biolink:NamedThing Reduced circulating interferon gamma A reduction in the concentration of interferon gamma measured in the blood circulation. hp0009lx5z 2020-11-27 19:24:26+00:00 peter owl:Class HP:0030355 biolink:NamedThing Abnormal serum interferon-gamma level Abnormal levels of interferon gamma measured in the blood circulation. hp0009lx5z UMLS:C4072899 owl:Class HP:0012495 biolink:NamedThing Posterior cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery. hp0009lx5z peter 2013-11-30T08:07:04Z UMLS:C1504569 human_phenotype owl:Class HP:0040063 biolink:NamedThing Decreased adipose tissue hp0009lx5z Decreased fat tissue HPO:skoehler UMLS:C4022459 owl:Class HP:0031018 biolink:NamedThing Eccrine syringofibroadenoma Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA). hp0009lx5z Syringofibroadenoma|Acrosyringeal adenomatosis|Eccrine syringofibroadenomatous hyperplasia 2017-05-31 00:32:10+00:00 robinp owl:Class HP:0006121 biolink:NamedThing Acral ulceration A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. hp0009lx5z HP:0005040|HP:0001862|HP:0001226 UMLS:C1860099 human_phenotype owl:Class HP:0031917 biolink:NamedThing Digital ulcer An open sore on the surface of the skin of a finger or toe. hp0009lx5z 2018-07-02 00:51:19+00:00 Digital ulcers are a common manifestation of systemic sclerosis, and can be responsible for substantial pain and mobidity. peter owl:Class HP:0031506 biolink:NamedThing Increased circulating T4 level An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). hp0009lx5z Increased circulating thyroxine level 2017-09-21 01:54:51+00:00 peter owl:Class HP:0031505 biolink:NamedThing Abnormal circulating T4 level A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). hp0009lx5z Abnormal circulating thyroxine level 2017-09-21 01:52:52+00:00 peter owl:Class HP:0010336 biolink:NamedThing Abnormality of the phalanges of the 4th toe hp0009lx5z doelkens 2009-07-16T11:41:21Z UMLS:C4023896 human_phenotype owl:Class HP:0410350 biolink:NamedThing Increased urinary fucosylated oligosaccharide An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine. hp0009lx5z Increased concentration of fucosylated oligosaccharides in urine owl:Class HP:0001954 biolink:NamedThing Recurrent fever Periodic (episodic or recurrent) bouts of fever. hp0009lx5z Intermittent fever|Hyperthermia, episodic|Increased body temperature, episodic|Episodic fever HP:0005962|HP:0005966|HP:0005980|HP:0004903 SNOMEDCT_US:77957000|UMLS:C0277799 owl:Class HP:0012235 biolink:NamedThing Drug-induced agranulocytosis A type of agranulocytosis related to ingestion of a specific medication. hp0009lx5z peter 2013-03-31T09:44:55Z UMLS:C0272178|SNOMEDCT_US:47318007 human_phenotype owl:Class HP:0012234 biolink:NamedThing Agranulocytosis Marked decrease in the number of granulocytes. hp0009lx5z Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. peter 2013-03-31T09:42:50Z UMLS:C0702094 human_phenotype owl:Class HP:0010492 biolink:NamedThing Osseous finger syndactyly Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". hp0009lx5z Osseous syndactyly of the fingers peter 2009-09-16T11:20:38Z UMLS:C0158736|SNOMEDCT_US:2560006 human_phenotype owl:Class HP:0004819 biolink:NamedThing Normocytic hypoplastic anemia A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits). hp0009lx5z Normocytic hypoplastic anaemia UMLS:C1835875 human_phenotype owl:Class HP:0001908 biolink:NamedThing Hypoplastic anemia Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. hp0009lx5z Hypoplastic anaemia MSH:D000741|SNOMEDCT_US:167923006|SNOMEDCT_US:41614006|UMLS:C0178416 human_phenotype owl:Class HP:0006650 biolink:NamedThing Thickening of the lateral border of the scapula hp0009lx5z Thickening of the lateral border of the shoulder blade UMLS:C1834383 human_phenotype owl:Class HP:0000782 biolink:NamedThing Abnormal scapula morphology Any abnormality of the scapula, also known as the shoulder blade. hp0009lx5z Abnormality of the shoulder blade UMLS:C4025828 owl:Class HP:0031023 biolink:NamedThing Multiple mucosal neuromas Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. hp0009lx5z peter 2017-05-21 13:18:01+00:00 NCIT:C6559 owl:Class HP:0030430 biolink:NamedThing Neuroma A tumor made up of nerve cells and nerve fibers. hp0009lx5z Nerve tumour|Nerve tumor|Pinched nerve SNOMEDCT_US:84116009|SNOMEDCT_US:25169009|UMLS:C0273482|UMLS:C0027858|MSH:D009463|SNOMEDCT_US:443892003|SNOMEDCT_US:274089002 owl:Class HP:0033968 biolink:NamedThing Interlobular vein intima/media granulomatous venulitis A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. hp0009lx5z Granulomatous venulitis within interlobular vein intima/media 2021-06-24 12:52:16+00:00 peter owl:Class HP:0033967 biolink:NamedThing Interlobular vein intima/media venulitis Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. hp0009lx5z Venulitis within interlobular vein intima/media 2021-06-24 12:51:02+00:00 peter owl:Class HP:0004007 biolink:NamedThing Sclerotic radial epiphyses hp0009lx5z UMLS:C4025450 human_phenotype owl:Class HP:0008393 biolink:NamedThing Congenital curved nail of fourth toe hp0009lx5z UMLS:C4024684 human_phenotype owl:Class HP:0012054 biolink:NamedThing Choroidal melanoma Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented). hp0009lx5z peter 2012-08-01T01:59:00Z SNOMEDCT_US:255021005|UMLS:C0346388|NCIT:C3224 human_phenotype owl:Class HP:0007716 biolink:NamedThing Uveal melanoma A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). hp0009lx5z Intraocular melanoma WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid. UMLS:C0220633|MSH:C536494|NCIT:C3224 human_phenotype owl:Class HP:0032179 biolink:NamedThing Abnormal circulating globulin level An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode. hp0009lx5z 2019-01-06 14:01:21+00:00 Any increase or decrease in the globulin fraction should be evaluated by serum electrophoresis. The alpha1 fraction consists mainly of alpha1 antitrypsin, which is an acute phase reactant that goes up in acute inflammation. The alpha1 fraction is reduced in congenital alpha1 antitrypsin deficiency. The alpha2 region consists mainly of alpha2 macroglobulin and haptoglobin. The major beta globulin is transferring. Elevations can occur in severe iron deficiency. peter owl:Class HP:0004532 biolink:NamedThing Sacral hypertrichosis Excessive, increased hair growth located in the sacral region. hp0009lx5z UMLS:C4025313 human_phenotype owl:Class HP:0031605 biolink:NamedThing Abnormality of fundus pigmentation Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. hp0009lx5z 2017-12-01 11:02:43+00:00 Alterations in pigmentation of the fundus are typically not a result of changes in the retina. The variable pigmentation within both RPE and choroid combine to change profoundly the appearance of the normal fundus between individuals. This is partly a racial characteristic and partly genetic. peter owl:Class HP:0006110 biolink:NamedThing Shortening of all middle phalanges of the fingers Short, hypoplastic middle phalanx of finger, affecting all fingers. hp0009lx5z UMLS:C1856912 human_phenotype owl:Class HP:0005819 biolink:NamedThing Short middle phalanx of finger Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. hp0009lx5z Disproportionately short middle phalanges|Hypoplasia of the middle phalanges of the hand|Shortened middle finger bones|Midphalangeal hypoplasia|Short middle bone of finger|Brachymesophalangy|Hypoplastic middle phalanx|Hypoplastic middle phalanges|Short middle phalanges HP:0010240|HP:0001208|HP:0006081|HP:0006068 UMLS:C1846950 owl:Class HP:0011046 biolink:NamedThing Agenesis of primary maxillary central incisor Agenesis of upper central primary incisor. hp0009lx5z Absence of primary maxillary central incisor|Absence of upper front baby tooth|Absence of deciduous maxillary central incisor|Missing deciduous maxillary central incisor|Missing upper front milk tooth|Failure of development of primary maxillary central incisor|Agenesis of deciduous maxillary central incisor|Failure of development of deciduous maxillary central incisor|Missing upper front baby tooth|Missing primary maxillary central incisor This feature is to be distinguished from single central upper incisor, which is median. peter 2011-03-10T11:21:41Z UMLS:C4280357|UMLS:C4023571 human_phenotype owl:Class HP:0006293 biolink:NamedThing Agenesis of maxillary central incisor Agenesis of upper secondary incisor or of upper central primary incisor. hp0009lx5z Missing upper central incisor|Missing maxillary central incisor|Absence of maxillary central incisor|Failure of development of maxillary central incisor UMLS:C4280458|UMLS:C4025068 human_phenotype owl:Class HP:0009652 biolink:NamedThing Bullet-shaped thumb phalanx An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped thumb bone|Bullet-shaped phalanges of the thumb doelkens 2009-01-29T05:29:26Z UMLS:C4021415 human_phenotype owl:Class HP:0020184 biolink:NamedThing Decreased circulating A-type natriuretic peptide level A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. hp0009lx5z robinp 2019-07-24 16:42:47+00:00 owl:Class HP:0020182 biolink:NamedThing Abnormal A-type atrial natriuretic peptide level A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. hp0009lx5z robinp 2019-07-24 16:39:04+00:00 owl:Class HP:0031136 biolink:NamedThing Decreased acrosin in sperm head A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process. hp0009lx5z 2017-06-10 15:21:08+00:00 peter owl:Class HP:0410233 biolink:NamedThing Increased anti-meat allergen IgE antibody level Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken. hp0009lx5z 2018-10-03 22:02:09+00:00 owl:Class HP:0410227 biolink:NamedThing Increased anti-food allergen IgE antibody level Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish. hp0009lx5z Increased level of anti-food allergen IgE antibody 2018-10-03 21:27:03+00:00 owl:Class HP:0004309 biolink:NamedThing Ventricular preexcitation An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. hp0009lx5z Preexcitation|Ventricular pre-excitation|Pre-excitation syndrome Pre-excitation syndromes are generally caused by accelerated conduction along an accessory pathway, but in some cases there is accelerated conduction through the normal AV node. peter 2008-02-20T01:29:00Z HP:0006676 UMLS:C0559106|SNOMEDCT_US:195060002 human_phenotype owl:Class HP:0004308 biolink:NamedThing Ventricular arrhythmia hp0009lx5z Ventricular arrhythmias peter 2008-02-20T01:28:00Z SNOMEDCT_US:44103008|UMLS:C0085612 human_phenotype owl:Class HP:0031701 biolink:NamedThing Anterior chamber inflammatory cells The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye. hp0009lx5z 2017-12-18 00:14:18+00:00 The terms for anterior chamber cells can be used to select the grade (total number of cells) and then Anterior chamber red blood cells or inflammatory cells can be chosen to specificy whether one or both cells are present. In some scenarios, both cell types may be observed, e.g., followiong trauma. peter owl:Class HP:0006189 biolink:NamedThing Prominent interdigital folds hp0009lx5z UMLS:C1866000 human_phenotype owl:Class HP:0009357 biolink:NamedThing Abnormality of the distal phalanx of the 3rd finger hp0009lx5z Abnormality of the outermost bone of the 3rd finger|Abnormality of terminal phalanx of middle-finger doelkens 2009-01-12T11:40:58Z HP:0004179 UMLS:C4021486 human_phenotype owl:Class HP:0002395 biolink:NamedThing Lower limb hyperreflexia hp0009lx5z Hyperreflexia in the lower limbs|Increased deep tendon reflexes in the lower limbs|Overactive lower leg reflex|Brisk lower extremity reflexes|Leg hyperreflexia|Hyperreflexia in lower limbs HP:0007288|HP:0007245 UMLS:C1836696 owl:Class HP:0001347 biolink:NamedThing Hyperreflexia Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. hp0009lx5z Increased reflexes|Increased deep tendon reflexes Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. HP:0006820|HP:0001282|HP:0007318|HP:0007184 SNOMEDCT_US:86854008|MSH:D012021|UMLS:C0151889 human_phenotype owl:Class HP:0032383 biolink:NamedThing Uniparental heterodisomy A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted. hp0009lx5z 2019-02-24 15:04:03+00:00 peter owl:Class HP:0032382 biolink:NamedThing Uniparental disomy Inheritance of both homologues of a chromosome pair from the same parent. hp0009lx5z 2019-02-24 14:58:52+00:00 UPD may comprise the whole chromosome, or just part of it (segmental UPD). Isodisomy is presented as 2 copies from the same chromosome of a parent, and heterodisomy is presented as 1 copy of each of the 2 homologues from the same parent. UPD is related to abnormalities formed during meiosis, fertilization, and mitosis. There are 5 different mechanisms that explain the etiology of UPD, including Trisomic rescue; Nullisomic gamete complementation; Monosomic rescue; Mitotic aberrations; and Structural chromosome aberrations. If prenatal genetic analysis reveals a homologous robertsonian translocation, the risk of fetal UPD is very high, and a marker chromosome or chromosome aneuploidy can be associated with UPD. peter owl:Class HP:0030376 biolink:NamedThing Abnormal proportion of immature B cells A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). hp0009lx5z Abnormal proportion of CD19+/CD21low B cells UMLS:C4072915 owl:Class HP:0009192 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the 5th finger Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger. hp0009lx5z Absent/underdeveloped innermost pinky finger bone|Absent/small innermost pinkie finger bone|Absent/small innermost pinky finger bone|Absent/small innermost little finger bone doelkens 2009-01-05T05:57:28Z UMLS:C4024544 human_phenotype owl:Class HP:0001641 biolink:NamedThing Abnormal pulmonary valve morphology Any structural abnormality of the pulmonary valve. hp0009lx5z Anomaly of the pulmonary valve|Abnormality of the pulmonary valve Fyler:1602|Fyler:1600|SNOMEDCT_US:448643005|UMLS:C3164374 human_phenotype owl:Class HP:0007933 biolink:NamedThing Broad lateral eyebrow Regional increase in the width (height) of the lateral eyebrow. hp0009lx5z Wide lateral eyebrow UMLS:C1837733 human_phenotype owl:Class HP:0025646 biolink:NamedThing Bilateral polymicrogyria Polymicrogyria that affects all or some of both cerebral hemispheres. hp0009lx5z Bilateral polymicrogyria is not always generalized or perisylvian. HPO:probinson owl:Class HP:0002126 biolink:NamedThing Polymicrogyria Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). hp0009lx5z More grooves in brain Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination. UMLS:C0266464|SNOMEDCT_US:4945003|MSH:D065706 human_phenotype owl:Class HP:0032682 biolink:NamedThing Focal aware non-motor seizure A focal non-motor seizure in which awareness is retained throughout the seizure. hp0009lx5z Focal non-motor aware seizure peter owl:Class HP:0025326 biolink:NamedThing Retinal arterial occlusion Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina. hp0009lx5z Retinal artery occlusion 2017-02-04 17:22:01+00:00 Retinal artery occlusion can manifest as painless loss of monocular vision. HPO:probinson owl:Class HP:0000162 biolink:NamedThing Glossoptosis Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. hp0009lx5z Lingual retraction|Retraction of the tongue|Posterior displacement of the tongue Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway. UMLS:C4280678|SNOMEDCT_US:3639002|UMLS:C0267048|MSH:D065710 human_phenotype owl:Class HP:0006683 biolink:NamedThing Abnormal ventricular filling An abnormality of filling of a ventricle with blood during diastole. hp0009lx5z Two diastolic properties, the rate of ventricular relaxation and the ventricular compliance are especially important determinants of ventricular filling. UMLS:C4025005 owl:Class HP:0010723 biolink:NamedThing Cystic lesions of the pinnae hp0009lx5z sdoelken 2010-04-20T10:17:01Z HP:0008557 UMLS:C4023720 human_phenotype owl:Class HP:0410027 biolink:NamedThing Alveolar bone loss around teeth A decrease in the amount of alveolar bone around the root of a tooth. hp0009lx5z Bone loss around teeth 2017-06-20 21:41:41+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0410026 biolink:NamedThing Abnormal periodontium morphology Any abnormality of the periodontium. hp0009lx5z Abnormality of the periodontium 2017-06-20 21:40:50+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0011605 biolink:NamedThing Congenitally corrected transposition of the great arteries with ventricular septal defect A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum. hp0009lx5z CCTGA|ccTGA peter 2012-04-08T02:55:06Z UMLS:C4023272 owl:Class HP:0011540 biolink:NamedThing Congenitally corrected transposition of the great arteries The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta. hp0009lx5z L-transposition|Ventricular inversion peter 2012-04-07T10:48:56Z UMLS:C0232301|UMLS:C0344616|EPCC:01.01.03|ICD-10:Q20.5|SNOMEDCT_US:56743000|MSH:C535426|SNOMEDCT_US:83799000 human_phenotype owl:Class HP:0010686 biolink:NamedThing Low alkaline phosphatase of hepatic origin An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood. hp0009lx5z Low ALP of hepatic origin doelkens 2010-03-05T11:12:47Z UMLS:C4023739 human_phenotype owl:Class HP:0410332 biolink:NamedThing Plant based food allergy Hypersensitivity in form of an adverse immune reaction against plant based food allergens. hp0009lx5z Immunoglobulin E-mediated plant based food allergen allergy|Allergy to plant based food allergens|IgE-mediated plant based food allergen allergy|Plant based food allergy owl:Class HP:0500093 biolink:NamedThing Food allergy Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. hp0009lx5z Immunoglobulin E-mediated food allergy|IgE-mediated food allergy|Food allergy 2018-04-27 19:35:00+00:00 owl:Class HP:0006689 biolink:NamedThing Bacterial endocarditis A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. hp0009lx5z Infective endocarditis doelkens 2010-12-27T02:57:48Z MSH:D004697|SNOMEDCT_US:301183007|UMLS:C0014121 human_phenotype owl:Class HP:0100584 biolink:NamedThing Endocarditis An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. hp0009lx5z doelkens 2010-12-27T02:57:48Z UMLS:C0014118|SNOMEDCT_US:56819008|MSH:D004696 human_phenotype owl:Class HP:0100911 biolink:NamedThing Sclerosis of the proximal phalanx of the 5th finger hp0009lx5z Increased bone density in innermost little finger bone|Increased bone density in innermost pinky finger bone|Increased bone density in innermost pinkie finger bone UMLS:C4021931 human_phenotype owl:Class HP:0030818 biolink:NamedThing Central nail canal The presense of a depressed line ("canal") in the center of the nail. hp0009lx5z Median nail dystrophy Central nail canal may be observed with conditions including severe arterial disease, severe malnutrition, and repetitive trauma. Heller's fir tree deformity refers to a central canal with a fir tree appearanceand may occur with peripheral artery disease. SNOMEDCT_US:238718006|UMLS:C0263526|SNOMEDCT_US:86393005 owl:Class HP:0008404 biolink:NamedThing Nail dystrophy Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. hp0009lx5z Onychodystrophy|Dystrophic nails|Poor nail formation Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. HP:0008397|HP:0008408|HP:0008382 UMLS:C0221260|MEDDRA:10028698|SNOMEDCT_US:87065009 owl:Class HP:0005415 biolink:NamedThing Decreased proportion of CD8-positive T cells A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells. hp0009lx5z CD8+ T-cell lymphopenia|Decreased proportion of CD8+ T cells|Decreased proportion of CD8-positive, alpha-beta T cells HP:0005481 UMLS:C1839305 human_phenotype owl:Class HP:0031393 biolink:NamedThing Abnormal proportion of CD8-positive T cells Any abnormality in the proportion of CD8 T cells relative to the total number of T cells. hp0009lx5z Abnormal proportion of CD8+ T cells|Abnormal proportion of CD8-positive, alpha-beta T cells 2017-09-02 17:06:06+00:00 peter owl:Class HP:0430004 biolink:NamedThing Frontomalar faciosynostosis hp0009lx5z UMLS:C4021870 owl:Class HP:0040025 biolink:NamedThing Clinodactyly of the 4th finger hp0009lx5z Curvature of ring finger HPO:skoehler UMLS:C4280295|UMLS:C4022484 owl:Class HP:0100946 biolink:NamedThing Sclerosis of proximal toe phalanx An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Sclerosis of the proximal phalanges of the toes|Increased bone density in innermost toe bone UMLS:C4020925 human_phenotype owl:Class HP:0010418 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 2nd toe hp0009lx5z Uneven increase in bone density in the outermost bone of the 2nd toe doelkens 2009-07-16T12:44:41Z UMLS:C4023838 human_phenotype owl:Class HP:0040053 biolink:NamedThing Long lower eyelashes hp0009lx5z Ciliary trichomegaly of lower eyelashes|Increased length of lower eyelashes|Long lower eyelashes HPO:skoehler UMLS:C4022465 owl:Class HP:0000587 biolink:NamedThing Abnormality of the optic nerve Abnormality of the optic nerve. hp0009lx5z optic nerve abnormalities|Optic nerve issue The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. UMLS:C0029131 human_phenotype owl:Class HP:0008504 biolink:NamedThing Moderate sensorineural hearing impairment The presence of a moderate form of sensorineural hearing impairment. hp0009lx5z Moderate neural deafness UMLS:C4024664|UMLS:C4020798 human_phenotype owl:Class HP:0012713 biolink:NamedThing Moderate hearing impairment The presence of a moderate form of hearing impairment. hp0009lx5z Moderate hearing impairment peter 2014-03-23T12:35:59Z UMLS:C4022757 human_phenotype owl:Class HP:0002375 biolink:NamedThing Hypokinesia Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. hp0009lx5z Decreased spontaneous movements|Decreased muscle movement|Decreased spontaneous movement HP:0002603|HP:0006795 UMLS:C0086439|SNOMEDCT_US:43994002|MSH:D018476|SNOMEDCT_US:255385008 human_phenotype owl:Class HP:0002374 biolink:NamedThing Diminished movement hp0009lx5z Diminished movement UMLS:C4025710 human_phenotype owl:Class HP:0004459 biolink:NamedThing Exostosis of the external auditory canal A benign bony growth projecting outward from a bone surface within the external auditory canal. hp0009lx5z External auditory canal exostoses UMLS:C0155411|SNOMEDCT_US:19560007 human_phenotype owl:Class HP:0031647 biolink:NamedThing Saccular aortic arch aneurysm An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall. hp0009lx5z 2017-12-17 14:19:53+00:00 peter owl:Class HP:0005113 biolink:NamedThing Aortic arch aneurysm An abnormal localized widening (dilatation) of the aortic arch. hp0009lx5z Dilatation of the aortic arch|Aortic arch dilatation peter 2008-03-25T06:34:00Z HP:0004965 Fyler:2706|UMLS:C1851119 human_phenotype owl:Class HP:0033381 biolink:NamedThing Elevated circulating stearoylcarnitine concentration Abnormally increased concentration of O-stearoylcarnitine in the blood circulation. hp0009lx5z 2020-12-23 14:47:06+00:00 Stearoylcarnitine (CHEBI:73074) is known by several names including O-stearoylcarnitine and stearoylcarnitine (C18). peter owl:Class HP:0005313 biolink:NamedThing Arterial fibromuscular dysplasia An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer. hp0009lx5z Fibromuscular dysplasia (FMD) is distinct from atherosclerotic lesions in that FMD lesions do not contain inflammatory cells or lipids. Instead, the pathology of FMD. FMD can result in arterial stenosis or occlusion, and less commonly, arterial dissection or aneurysm formation. FMD can affect almost any artery but most commonly affects the renal arteries, presenting as hypertension, and the carotid and vertebral arteries, leading to ischemic stroke, transient ischemic attacks, headaches, and pulsatile tinnitus. SNOMEDCT_US:31653004|SNOMEDCT_US:359553002|MSH:D005352|UMLS:C0016052 human_phenotype owl:Class HP:0012018 biolink:NamedThing EEG with temporal focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region. hp0009lx5z hecht 2012-07-20T12:02:59Z UMLS:C4023073 human_phenotype owl:Class HP:0032376 biolink:NamedThing Anti-beta 2 glycoprotein I antibody positivity Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS). hp0009lx5z Anti-B2GPI positivity 2019-02-24 13:47:12+00:00 Beta2GPI was identified as a primary target of autoantibodies in patients with APS. Beta2GPI is a single-chain protein containing five repeating sequences or domains. Domain V is essential for binding to anionic phospholipid membranes, whereas domain I sticks out into the extracellular space where interactions with other proteins/antibodies can take place 1. peter owl:Class HP:0006554 biolink:NamedThing Acute hepatic failure Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. hp0009lx5z Acute liver failure HP:0006556 UMLS:C0162557|MSH:D017114|SNOMEDCT_US:197270009|SNOMEDCT_US:235884008 human_phenotype owl:Class HP:0001399 biolink:NamedThing Hepatic failure hp0009lx5z Liver failure UMLS:C0085605|MSH:D017093|SNOMEDCT_US:59927004 human_phenotype owl:Class HP:0002804 biolink:NamedThing Arthrogryposis multiplex congenita Multiple congenital contractures in different body areas. hp0009lx5z Arthrogryposis, congenital|Arthrogryposis multiplex|Multiple congenital contractures|Arthrogryposis Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature. HP:0005809|HP:0005859|HP:0001389|HP:0002759|HP:0005663|HP:0001390|HP:0005188 SNOMEDCT_US:77016009|UMLS:C0003886|SNOMEDCT_US:111246005|MSH:D001176 human_phenotype owl:Class HP:0025418 biolink:NamedThing Renal cortical necrosis Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. hp0009lx5z Necrosis of the kidney cortex 2017-04-23 11:45:23+00:00 Renal cortical necrosis is a type of actue kidney injury that results from insufficient perfusion of the renal cortex. Cortical necrosis commonly manifests clinically as a rapid loss of glomerular filtration rate, often with oliguria, granular casts, and low-level proteinuria. The key diagnostic features of renal cortical necrosis are (i) pale tissue with typical appearance of coagulative necrosis, affecting both tubules and glomeruli; (ii) pyknotic nuclei; and (iii) simplified, flattened epithelium of proximal tubules. HPO:probinson owl:Class HP:0033278 biolink:NamedThing Reduced CD95-induced lymphocyte apoptosis Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells. hp0009lx5z 2020-11-28 17:19:21+00:00 peter owl:Class HP:0002731 biolink:NamedThing Decreased lymphocyte apoptosis A reduction in the rate of apoptosis in lymphocytes. hp0009lx5z Defective lymphocyte apoptosis Apoptosis, a form of programmed cell death, is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis. UMLS:C1858969 human_phenotype owl:Class HP:0002199 biolink:NamedThing Hypocalcemic seizures hp0009lx5z Seizures due to hypocalcemia|Low calcium seizures UMLS:C1855841 human_phenotype owl:Class HP:0032629 biolink:NamedThing Intratubular dihydroxyadenuria crystals Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. hp0009lx5z peter owl:Class HP:0032628 biolink:NamedThing Renal intratubular crystals hp0009lx5z peter owl:Class HP:0033277 biolink:NamedThing Glomerular fibrinoid necrosis Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. hp0009lx5z 2020-11-28 16:33:47+00:00 peter owl:Class HP:0025553 biolink:NamedThing Periorbital ecchymosis with tarsal plate sparing Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate. hp0009lx5z Raccoon eyes 2017-07-09 13:16:35+00:00 HPO:probinson owl:Class HP:0000606 biolink:NamedThing Abnormality of the periorbital region An abnormality of the region situated around the orbit of the eye. hp0009lx5z Malformation of the periorbital region|Deformity of the periorbital region|Abnormality of the region around the eye|Anomaly of the periorbital region|Abnormality of the region around the eye socket UMLS:C4025837 human_phenotype owl:Class HP:0040245 biolink:NamedThing Reduced alpha-2-antiplasmin activity Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis. hp0009lx5z This term has been requested and created by members of the BRIDGE consortium UMLS:C4280703 owl:Class HP:0100376 biolink:NamedThing Aplasia/hypoplasia of the proximal phalanx of the 4th toe Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe. hp0009lx5z Absent/underdeveloped innermost 4th toe bone|Absent/small innermost 4th toe bone UMLS:C4022115 human_phenotype owl:Class HP:0007973 biolink:NamedThing Retinal dysplasia The presence of developmental dysplasia of the retina. hp0009lx5z Retinal dysgenesis This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately. HP:0007901|HP:0008022 MSH:D015792|SNOMEDCT_US:95494009|UMLS:C0035313 human_phenotype owl:Class HP:0002444 biolink:NamedThing Hypothalamic hamartoma The presence of a hamartoma of the hypothalamus. hp0009lx5z Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. SNOMEDCT_US:237714006|UMLS:C0342418|MSH:C537158 human_phenotype owl:Class HP:0009388 biolink:NamedThing Ivory epiphyses of the 5th finger Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the little finger|Increased bone density of end part of the pinkie finger|Increased bone density of end part of the pinky finger doelkens 2009-01-13T01:19:03Z UMLS:C4024401 human_phenotype owl:Class HP:0009557 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 2nd finger hp0009lx5z Absent/small outermost index finger bone|Absent/underdeveloped outermost index finger bone doelkens 2009-01-28T04:16:02Z UMLS:C4024294 human_phenotype owl:Class HP:0001204 biolink:NamedThing Distal symphalangism of hands The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. hp0009lx5z Symphalangism affecting the distal phalanges of the hand|Fused outermost bones of hand|Synostosis of distal phalanges|Terminal symphalangism HP:0009841|HP:0006079|HP:0006116|HP:0009871 UMLS:C1862158 human_phenotype owl:Class HP:0009773 biolink:NamedThing Symphalangism affecting the phalanges of the hand Fusion of two or more phalangeal bones of the hand. hp0009lx5z Fused finger bones of the hand|Synostosis involving phalanges of the hand doelkens 2009-02-02T11:38:04Z HP:0006258 UMLS:C4021390 human_phenotype owl:Class HP:0032281 biolink:NamedThing Abnormal base excess Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C). hp0009lx5z 2019-01-27 23:07:10+00:00 The base excess increases in metabolic alkalosis and decreases in metabolic acidosis, but its utility in interpreting blood gas results is controversial. The term base excess is used in clinical practice, but the available blood gas devices calculate either the standard base excess, also called the base excess of the extracellular fluid, or the base excess of blood. Base deficit is calculated as the base excess times minus one. peter owl:Class HP:0032782 biolink:NamedThing Focal impaired awareness autonomic seizure with lacrimation A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0032771 biolink:NamedThing Focal autonomic seizure with lacrimation A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature. hp0009lx5z peter owl:Class HP:0100493 biolink:NamedThing Hypoammonemia A decreased concentration of ammonia in the blood. hp0009lx5z doelkens 2010-12-17T03:54:51Z UMLS:C4022041 human_phenotype owl:Class HP:0031747 biolink:NamedThing Superior rectus muscle underaction Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. hp0009lx5z 2018-01-21 14:16:34+00:00 peter owl:Class HP:0000245 biolink:NamedThing Abnormal paranasal sinus morphology Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. hp0009lx5z Abnormality of the sinuses|Abnormality of the paranasal sinuses|Abnormality of the sinuses of the head UMLS:C4025873 owl:Class HP:0010735 biolink:NamedThing Polyostotic fibrous dysplasia Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome. hp0009lx5z doelkens 2010-04-21T06:31:50Z MSH:D005359|UMLS:C0016065|SNOMEDCT_US:36517007 human_phenotype owl:Class HP:0010734 biolink:NamedThing Fibrous dysplasia of the bones Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). hp0009lx5z doelkens 2010-04-21T06:27:42Z MSH:D005357|SNOMEDCT_US:10623005|UMLS:C0016063 human_phenotype owl:Class HP:0025588 biolink:NamedThing Hypodeviation A type of strabismus in which the visual axis of one eye is lower than that of the other. hp0009lx5z 2018-01-13 19:50:55+00:00 Hypophoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypotropia is a manifest deviation in which the eyes are not aligned under binocular conditions. HPO:probinson owl:Class HP:0007407 biolink:NamedThing Excessive skin wrinkling on dorsum of hands and fingers hp0009lx5z Excessive skin wrinkling on back of hands and fingers UMLS:C1837467 human_phenotype owl:Class HP:0009207 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 5th finger Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger. hp0009lx5z Fragmentation of end part of the middle bone of the pinkie finger|Fragmentation of end part of the middle bone of the pinky finger|Fragmentation of end part of the middle bone of the little finger doelkens 2009-01-05T05:22:18Z UMLS:C4024533 human_phenotype owl:Class HP:0033347 biolink:NamedThing Cognitive epileptic aura A purely subjective manifestation of an epileptic seizure pertaining to altered cognition. hp0009lx5z 2020-11-30 21:47:36+00:00 peter owl:Class HP:0033346 biolink:NamedThing Psychic epileptic aura Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events. hp0009lx5z Psychic aura 2020-11-30 21:09:17+00:00 Events may appear alone or in combination. Included are feelings of depersonalization. These phenomena have subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. peter owl:Class HP:0033248 biolink:NamedThing Multiple pulmonary interstitial hyalinized nodules Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin. hp0009lx5z 2020-11-25 14:12:48+00:00 peter owl:Class HP:0011743 biolink:NamedThing Adrenal gland agenesis Absent development of the adrenal gland. hp0009lx5z peter 2012-04-21T09:46:49Z SNOMEDCT_US:702615004|MSH:C538429|SNOMEDCT_US:83190008|UMLS:C0266273 human_phenotype owl:Class HP:0008216 biolink:NamedThing Adrenal gland dysgenesis Abnormal development of the adrenal gland. hp0009lx5z Dysplastic adrenal glands|Adrenal gland dysplasia UMLS:C1856017 owl:Class HP:0100535 biolink:NamedThing Tibiofibular diastasis hp0009lx5z doelkens 2010-12-20T05:53:38Z UMLS:C4022029 human_phenotype owl:Class HP:0031164 biolink:NamedThing Growth arrest lines Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone. hp0009lx5z Growth resumption lines|Harris lines 2017-06-18 18:03:33+00:00 peter owl:Class HP:0031367 biolink:NamedThing Metaphyseal striations Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). hp0009lx5z Striated metaphysis 2017-09-02 01:05:37+00:00 peter owl:Class HP:0030125 biolink:NamedThing Sacralization of the fifth lumbar vertebra A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both. hp0009lx5z L5 sacralization This anomaly is observed at about 3.5 percent of people and is usually bilateral. UMLS:C4021052 owl:Class HP:0009959 biolink:NamedThing Duplication of phalanx of 3rd finger This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. hp0009lx5z Duplication of middle finger bone|Partial/complete duplication of phalanges of the 3rd finger doelkens 2009-05-26T09:54:51Z UMLS:C4021364 human_phenotype owl:Class HP:0007427 biolink:NamedThing Reticulated skin pigmentation hp0009lx5z Reticulate skin pigmentation|Reticular pigmentation pattern UMLS:C3279575|UMLS:C3279601 human_phenotype owl:Class HP:0032826 biolink:NamedThing Focal neonatal sequential seizure Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures. hp0009lx5z No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. peter owl:Class HP:0032825 biolink:NamedThing Neonatal electro-clinical sequential seizure Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. hp0009lx5z Neonatal electroclinical sequential seizure No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic aetiology. peter owl:Class HP:0045038 biolink:NamedThing Gastric lymphoma Lymphoma that originates in the stomach itself. hp0009lx5z Primary gastric lymphoma An uncommon condition, that accounts for less than 15% of gastric malignancies and about 2% of all lymphomas. HPO:skoehler UMLS:C0349532|SNOMEDCT_US:276811008|MSH:C535648 owl:Class HP:0002665 biolink:NamedThing Lymphoma A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. hp0009lx5z Cancer of lymphatic system MSH:D008223|NCIT:C7065|SNOMEDCT_US:115244002|SNOMEDCT_US:21964009|SNOMEDCT_US:118600007|SNOMEDCT_US:188676008|UMLS:C0024299 human_phenotype owl:Class HP:0009347 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 3rd finger An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of innermost long bone of the middle finger doelkens 2009-01-12T11:19:03Z UMLS:C4024421 human_phenotype owl:Class HP:0009411 biolink:NamedThing Bracket epiphyses of the 3rd finger An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of middle finger bone doelkens 2009-01-14T02:01:59Z UMLS:C4024382 human_phenotype owl:Class HP:0032187 biolink:NamedThing Anal intraepithelial neoplasia Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer. hp0009lx5z 2019-01-15 10:14:28+00:00 Risk factors for AIN and anal cancer consist of clinical factors and behaviors that are associated with the acquisition and persistence of human papilloma virus (HPV) infection. Anal cancer is defined as cancer arising from the squamous epithelium of the anus, making it distinct from colorectal cancer. The anal canal consists of stratified squamous epithelium originating outside the body and extending into the anus up to the dentate line, the point where it intersects the columnar epithelium of the rectum. Thus, the vast majority of anal cancer is squamous cell carcinoma (SCC), with a small minority consisting of adenocarcinoma or skin cancer variants. Anal cancer is preceded by intraepithelial neoplasia, a premalignant lesion. peter owl:Class HP:0032186 biolink:NamedThing Anal neoplasm A benign or malignant neoplasm that affects the anal canal or anal margin. hp0009lx5z 2019-01-15 10:13:37+00:00 peter owl:Class HP:0031012 biolink:NamedThing Thin-cap fibroatheroma Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 µm typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis. hp0009lx5z TCFA 2017-05-18 02:45:29+00:00 peter owl:Class HP:0008261 biolink:NamedThing Pancreatic islet cell adenoma The presence of an adenoma of the pancreas with origin in a pancreatic B cell. hp0009lx5z UMLS:C1851697 human_phenotype owl:Class HP:0002894 biolink:NamedThing Neoplasm of the pancreas A tumor (abnormal growth of tissue) of the pancreas. hp0009lx5z increased risk of pancreatic cancer|Neoplasia of the pancreas|Pancreatic tumour|Cancer of the pancreas|Pancreatic cancer|Pancreatic tumor HP:0004511 MSH:D010190|UMLS:C0346647|NCIT:C3262|UMLS:C1842408|SNOMEDCT_US:126859007|UMLS:C0030297|SNOMEDCT_US:363418001 human_phenotype owl:Class HP:0009990 biolink:NamedThing Duplication of the proximal phalanx of the 5th finger Partial or complete duplication of the fifth proximal phalanx of hand. hp0009lx5z Duplication of the innermost pinkie finger bone|Duplication of the innermost little finger bone|Partial/complete duplication of the proximal phalanx of the 5th finger|Duplication of the innermost pinky finger bone doelkens 2009-05-26T02:24:20Z UMLS:C4021351 human_phenotype owl:Class HP:0020165 biolink:NamedThing Branch retinal vein occlusion Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels. hp0009lx5z robinp 2019-07-06 21:08:14+00:00 owl:Class HP:0009754 biolink:NamedThing Fibrous syngnathia Complete or nearly complete soft tissue fusion of the alveolar ridges. hp0009lx5z Fusion of the alveolar ridges|Alveolar synechiae This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes oral synechiae. peter 2009-01-31T08:50:29Z UMLS:C4021392 human_phenotype owl:Class HP:0011310 biolink:NamedThing Bridged palmar crease A crease that connects the proximal and distal transverse palmar creases. hp0009lx5z Bridged palm line|Transitional palmar crease The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation. hecht 2012-02-12T12:56:40Z UMLS:C4021166 human_phenotype owl:Class HP:0010490 biolink:NamedThing Abnormality of the palmar creases An abnormality of the creases of the skin of palm of hand. hp0009lx5z Abnormality of the palm lines peter 2009-09-16T10:54:52Z SNOMEDCT_US:205557000|UMLS:C0221199 human_phenotype owl:Class HP:0033153 biolink:NamedThing Elevated circulating dodecenoylcarnitine concentration An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation. hp0009lx5z Elevated plasma dodecenoylcarnitine concentration 2020-09-19 12:32:07+00:00 peter owl:Class HP:0009933 biolink:NamedThing Narrow naris Slender, slit-like aperture of the nostril. hp0009lx5z Thin nostrils|Thin nares|Collapsed nostrils|Slit-like nostrils|Narrow nares|Small nostrils|Naris, narrow|Naris, slit-like|Narrow nostrils peter 2009-05-10T10:35:51Z UMLS:C0426436|UMLS:C1849366|SNOMEDCT_US:249336003|UMLS:C4280390|UMLS:C0426439|SNOMEDCT_US:249339005 human_phenotype owl:Class HP:0005288 biolink:NamedThing Abnormality of the nares Abnormality of the nostril. hp0009lx5z Deformity of the nares|Malformation of the nares|Malformation of the nostrils|Anomaly of the nares|Abnormality of the nostrils|Deformity of the nostrils peter 2008-03-26T06:04:00Z UMLS:C4021637 human_phenotype owl:Class HP:0001913 biolink:NamedThing Granulocytopenia An abnormally reduced number of granulocytes in the blood. hp0009lx5z MSH:D000380|SNOMEDCT_US:17182001|SNOMEDCT_US:417672002|UMLS:C0001824 human_phenotype owl:Class HP:0032309 biolink:NamedThing Abnormal granulocyte count Any deviation from the normal cell count per volume of granulocytes in the blood circulation. hp0009lx5z 2019-02-14 10:54:57+00:00 Granulocytes belong to the innate immune system and make up the largest proportion of white blood cells. They are myeloid cells and can be classified as neutrophil granulocytes (neutrophils), eosinophils, basophils, monocytes, and mast cells. peter owl:Class HP:0031109 biolink:NamedThing Agalactia Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant. hp0009lx5z Lactation incapacity 2017-06-30 15:43:23+00:00 robinp owl:Class HP:0031094 biolink:NamedThing Abnormal breast physiology Any anomaly of the function of the breast. hp0009lx5z 2017-06-30 15:42:09+00:00 robinp owl:Class HP:0005212 biolink:NamedThing Anal mucosal leukoplakia Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. hp0009lx5z UMLS:C1844632 human_phenotype owl:Class HP:0004239 biolink:NamedThing Proximally placed carpal bones hp0009lx5z UMLS:C4025399 human_phenotype owl:Class HP:0001833 biolink:NamedThing Long foot Increased back to front length of the foot. hp0009lx5z long feet|Long foot|Disproportionately large feet|large feet HP:0008136|HP:0008143 SNOMEDCT_US:299462005|UMLS:C0576225 human_phenotype owl:Class HP:0033737 biolink:NamedThing Grade III vesicoureteral reflux Vesicoureteral reflux with dilatation of the collecting system. hp0009lx5z VUR III|Grade III VUR 2021-04-16 14:04:17+00:00 peter owl:Class HP:0033734 biolink:NamedThing High-grade vesicoureteral reflux Vesicoureteral reflux with dilation of the renal calyces (Grade III - V). hp0009lx5z 2021-04-16 13:56:53+00:00 peter owl:Class HP:0031110 biolink:NamedThing Twin-to-twin transfusion As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure. hp0009lx5z Twin to twin transfusion syndrome 2017-06-30 16:02:43+00:00 robinp owl:Class HP:0009704 biolink:NamedThing Chronic CSF lymphocytosis Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. hp0009lx5z Chronic cerebrospinal fluid lymphocytosis peter 2009-01-30T06:24:59Z UMLS:C4024229 human_phenotype owl:Class HP:0200149 biolink:NamedThing CSF lymphocytic pleiocytosis An increased lymphocyte count in the cerebrospinal fluid. hp0009lx5z CSF lymphocytosis sebastiankohler 2013-06-13T01:03:23Z SNOMEDCT_US:167719009|UMLS:C0427877 human_phenotype owl:Class HP:0010460 biolink:NamedThing Abnormality of the female genitalia Abnormality of the female genital system. hp0009lx5z Abnormality of the female internal or external genitalia. peter 2009-09-15T08:32:09Z UMLS:C4023820 owl:Class HP:0011907 biolink:NamedThing Reduced alpha/beta synthesis ratio A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. hp0009lx5z peter 2012-06-03T05:43:45Z UMLS:C4023136 human_phenotype owl:Class HP:0005560 biolink:NamedThing Imbalanced hemoglobin synthesis Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia. hp0009lx5z Imbalanced Hb synthesis|Imbalanced haemoglobin synthesis While imbalanced hemoglobin synthesis can be inferred from other findings including those of hemoglobin electrophoresis, the determination of this feature requires investigation of hemoglobin synthesis in vitro, e.g., by incubation of washed peripheral blood erythrocytes and bone marrow cells with radioactively labeled leucine followed by column chromatography. peter 2008-03-27T10:44:00Z UMLS:C4025177 human_phenotype owl:Class HP:0009508 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 2nd finger Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the outermost bone of the index finger|Ivory epiphysis of terminal index finger phalanx doelkens 2009-01-16T01:11:04Z HP:0004148 UMLS:C4021460 human_phenotype owl:Class HP:0009494 biolink:NamedThing Ivory epiphyses of the 2nd finger Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the index finger bone doelkens 2009-01-16T01:07:16Z UMLS:C4024331 human_phenotype owl:Class HP:0010875 biolink:NamedThing Chaddock reflex A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract. hp0009lx5z peter 2010-09-07T12:11:07Z UMLS:C1531651|SNOMEDCT_US:413813004 human_phenotype owl:Class HP:0012122 biolink:NamedThing Anterior uveitis Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. hp0009lx5z hecht 2012-09-16T06:24:32Z UMLS:C0701807|SNOMEDCT_US:4927003 human_phenotype owl:Class HP:0008635 biolink:NamedThing Hypertrophy of the urinary bladder Abnormal enlargement of the urinary bladder. hp0009lx5z Hypertrophic urinary bladder UMLS:C4021531 human_phenotype owl:Class HP:0025487 biolink:NamedThing Abnormality of bladder morphology Any structural anomaly of the bladder. hp0009lx5z 2017-05-14 17:07:03+00:00 HPO:probinson owl:Class HP:0033631 biolink:NamedThing Spondylitis Inflammation of the vertebrae (vertebral bodies) or spine. hp0009lx5z 2021-02-01 13:12:34+00:00 peter owl:Class HP:0011959 biolink:NamedThing Unilateral hypoplasia of pectoralis major muscle Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest. hp0009lx5z Underdeveloped pec muscle on one side|Small pec muscle on one side peter 2012-06-22T08:13:12Z UMLS:C4023107 human_phenotype owl:Class HP:4000018 biolink:NamedThing Anti-desmoplakin II antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II. hp0009lx5z 2021-05-02 14:27:21+00:00 robinp owl:Class HP:0009678 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the thumb Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. hp0009lx5z Enlarged end part of thumb outermost long bone|Large terminal thumb phalanx epiphysis doelkens 2009-01-30T09:18:09Z HP:0004092 UMLS:C4021408 human_phenotype owl:Class HP:0009662 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the thumb Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx. hp0009lx5z Abnormality of terminal thumb epiphysis|Abnormality of the end part of the outermost bone of the thumb doelkens 2009-01-29T05:49:31Z HP:0004089 UMLS:C4021410 human_phenotype owl:Class HP:0003238 biolink:NamedThing Hyperpepsinogenemia I hp0009lx5z UMLS:C4025638 human_phenotype owl:Class HP:0003777 biolink:NamedThing Pili torti Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. hp0009lx5z Flattened and twisted hair SNOMEDCT_US:17170005|UMLS:C0263491|MSH:C562485 human_phenotype owl:Class HP:0032308 biolink:NamedThing Increased circulating procalcitonin concentration An elevated concentration of procalcitonin in the blood circulation. hp0009lx5z Increased circulating procalcitonin level 2019-02-14 10:46:33+00:00 Procalcitonin is a 116 amino acid peptide that has an approximate MW of 14.5 kDa and belongs to the calcitonin (CT) superfamily of peptides. It can be divided into 3 sections including the amino terminus of the PCT region, immature calcitonin, and calcitonin carboxyl-terminus peptide-1 (CCP-1). Procalcitonin is encoded by CALC-1 gene located on chromosome 11. Cleavage in 1 site of the primary transcript of CALC-1 gene produces pre-PCT, which further undergoes proteolytic cleavage of its signal sequence to produce PCT. The synthesized PCT then undergoes post-translational processing to produce small peptides and mature CT. PCT is a biomarker that exhibits greater specificity than other proinflammatory markers (eg, cytokines) in identifying patients with sepsis and can be used in the diagnosis of bacterial infections. The short half-life (25-30 hours in plasma) of PCT, coupled with its virtual absence in health and specificity for bacterial infections, gives it a clear advantage over the other markers of bacterial infection. peter owl:Class HP:0006999 biolink:NamedThing Basal ganglia gliosis Focal proliferation of glial cells in the basal ganglia. hp0009lx5z Gliosis in the basal ganglia Gliosis refers to a proliferation of astrocytes in an area of damage of nervous tissue. UMLS:C2750915|UMLS:C1864114 human_phenotype owl:Class HP:0002965 biolink:NamedThing Cutaneous anergy Inability to react to a delayed hypersensitivity skin test. hp0009lx5z Lack of delayed skin hypersensitivity reaction|Absence of delayed hypersensitivity skin test Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected. HP:0005427 UMLS:C1855781 human_phenotype owl:Class HP:0002963 biolink:NamedThing Abnormal delayed hypersensitivity skin test Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. hp0009lx5z This is an immune function test measuring the presence of activated T cells that recognize a certain substance. UMLS:C1833172 human_phenotype owl:Class HP:0009190 biolink:NamedThing Irregular epiphyses of the metacarpals Irregular radiographic opacity of the epiphyses of the metacarpals. hp0009lx5z Irregular end part of the long bone of hand doelkens 2008-12-30T02:03:34Z UMLS:C4024546 human_phenotype owl:Class HP:0011550 biolink:NamedThing Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection hp0009lx5z peter 2012-04-07T11:32:09Z UMLS:C4023304 human_phenotype owl:Class HP:0012578 biolink:NamedThing Membranous nephropathy A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. hp0009lx5z Membranous glomerulonephritis peter 2014-01-16T01:22:41Z SNOMEDCT_US:77182004|MSH:D015433|UMLS:C0017665 human_phenotype owl:Class HP:0009680 biolink:NamedThing Irregular epiphysis of the distal phalanx of the thumb Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb. hp0009lx5z Irregular end part of thumb outermost bone doelkens 2009-01-30T09:18:09Z UMLS:C4024239 human_phenotype owl:Class HP:0009691 biolink:NamedThing Irregular thumb epiphysis Uneven radiographic opacity of the one or more epiphyses of the thumb. hp0009lx5z Irregular epiphyses of the thumb|Irregular end part of thumb long bone doelkens 2009-01-30T09:20:16Z UMLS:C4021404 human_phenotype owl:Class HP:0001959 biolink:NamedThing Polydipsia Excessive thirst manifested by excessive fluid intake. hp0009lx5z Extreme thirst SNOMEDCT_US:267026004|MSH:D059606|UMLS:C0085602|SNOMEDCT_US:17173007 human_phenotype owl:Class HP:0030082 biolink:NamedThing Abnormal drinking behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. hp0009lx5z Abnormal drinking behaviour|Abnormal drinking behavior Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder. UMLS:C4022657 owl:Class HP:0001080 biolink:NamedThing Biliary tract abnormality An abnormality of the biliary tree. hp0009lx5z Biliary tract disease UMLS:C0005424|MSH:D001660|SNOMEDCT_US:105997008|UMLS:C0549613 human_phenotype owl:Class HP:0004297 biolink:NamedThing Abnormality of the biliary system An abnormality of the biliary system. hp0009lx5z peter 2008-02-20T11:34:00Z UMLS:C0940767 human_phenotype owl:Class HP:0045090 biolink:NamedThing Minor finding In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential. hp0009lx5z owl:Class HP:0045088 biolink:NamedThing Clinical relevance Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis. hp0009lx5z owl:Class HP:0031464 biolink:NamedThing Genital blistering The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. hp0009lx5z 2017-09-17 16:21:13+00:00 peter owl:Class HP:0033800 biolink:NamedThing Blistering by anatomical location Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur. hp0009lx5z 2021-05-08 14:53:30+00:00 peter owl:Class HP:0009328 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 3rd finger A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z Pseudoepiphyses of middle phalanx of middle-finger doelkens 2009-01-12T11:15:44Z HP:0004176 UMLS:C4021491 human_phenotype owl:Class HP:0012295 biolink:NamedThing Slender middle phalanx of finger Reduced diameter of the middle phalanx of finger. hp0009lx5z Slender middle bone of finger peter 2013-04-12T05:40:22Z UMLS:C4022963 human_phenotype owl:Class HP:0032434 biolink:NamedThing Delayed umbilical cord separation Separation of the umbilical cord occurs at an abnormally late timepoint. hp0009lx5z 2019-03-02 15:01:57+00:00 The umbilical cord of the newborn usually separates and sloughs by the end of the second postnatal week. However, a wide variation exists in the age at which cord separation occurs in healthy infants with regard to ethnicity, geographical location, and methods of cord care. A marked delay in cord separation raises the suspicion of leukocyte adhesion deficiency, a rare disorder leading to defective neutrophil function. peter owl:Class HP:0100179 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 4th toe hp0009lx5z Triangular end part of the outermost bone of the 4th toe doelkens 2010-06-24T04:53:36Z UMLS:C4022242 human_phenotype owl:Class HP:0009800 biolink:NamedThing Maternal diabetes Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. hp0009lx5z Maternal diabetes|gestational diabetes|maternal hyperglycemia doelkens 2009-02-12T05:44:58Z UMLS:C4020778|UMLS:C0085207|SNOMEDCT_US:11687002|MSH:D016640 owl:Class HP:0410073 biolink:NamedThing Increased level of ribose in CSF An increase in the level of ribose in the cerebrospinal fluid. hp0009lx5z Increased level of ribose in cerebrospinal fluid 2018-01-30 00:47:46+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0032207 biolink:NamedThing Abnormal cerebrospinal fluid metabolite concentration Any deviation from the normal concentration of a metabolite in cerebrospinal fluid. hp0009lx5z Abnormal CSF metabolite concentration 2019-01-20 15:49:06+00:00 peter owl:Class HP:0012102 biolink:NamedThing Abnormal mitochondrial number A deviation from the normal number of mitochondria per cell. hp0009lx5z peter 2012-09-08T11:03:33Z UMLS:C4023043 human_phenotype owl:Class HP:0008322 biolink:NamedThing Abnormal mitochondrial morphology Any structural anomaly of the mitochondria. hp0009lx5z Abnormal mitochondrion morphology This feature may be assessed by means of electron microscopy. UMLS:C4014650 human_phenotype owl:Class HP:0011407 biolink:NamedThing Proportionate tall stature hp0009lx5z peter 2012-03-15T09:47:20Z UMLS:C4023371 human_phenotype owl:Class HP:0100203 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 5th toe hp0009lx5z Bracket shaped end part of the outermost bone of the pinky toe|Bracket shaped end part of the outermost bone of the pinkie toe|Bracket shaped end part of the outermost bone of the little toe doelkens 2010-06-24T05:03:31Z UMLS:C4022218 human_phenotype owl:Class HP:0000127 biolink:NamedThing Renal salt wasting A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). hp0009lx5z Renal salt-wasting|Loss of salt in urine|Salt wasting|Salt-wasting UMLS:C1846347 owl:Class HP:0004878 biolink:NamedThing Intercostal muscle weakness Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. hp0009lx5z Dependence on diaphragmatic breathing|Muscle weakness between ribs UMLS:C0240017 owl:Class HP:0500101 biolink:NamedThing Gastric fluid xenobiotic Presence of a xenobiotic in gastric fluid. hp0009lx5z 2018-05-21 13:46:36+00:00 owl:Class HP:0025371 biolink:NamedThing Delayed ossification of the sacrum Formation of the sacrum bone tissue occurs later than age-adjusted norms. hp0009lx5z 2017-02-20 14:47:07+00:00 HPO:probinson owl:Class HP:0025370 biolink:NamedThing Abnormal ossification of the sacrum Abnormal bone tissue formation (ossification) affecting the sacrum. hp0009lx5z 2017-02-20 14:45:33+00:00 HPO:probinson owl:Class HP:0100319 biolink:NamedThing Cerebral hyaline bodies Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance. hp0009lx5z Cerebral colloid bodies doelkens 2010-08-10T03:39:19Z UMLS:C4021021 human_phenotype owl:Class HP:0006748 biolink:NamedThing Adrenal pheochromocytoma Pheochromocytoma originating from the adrenal medulla. hp0009lx5z Pheochromocytomas, adrenal|Pheochromocytoma, adrenal HP:0006752 SNOMEDCT_US:85583005|UMLS:C0031511|SNOMEDCT_US:399343007|NCIT:C3326|MSH:D010673|SNOMEDCT_US:302835009 human_phenotype owl:Class HP:0002666 biolink:NamedThing Pheochromocytoma Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. hp0009lx5z Chromaffin tumors|Chromaffin tumours SNOMEDCT_US:85583005|UMLS:C0031511|SNOMEDCT_US:399343007|NCIT:C3326|MSH:D010673|SNOMEDCT_US:302835009 human_phenotype owl:Class HP:0009670 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the thumb Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the innermost bone of the thumb doelkens 2009-01-30T09:17:13Z UMLS:C4024247 human_phenotype owl:Class HP:0010263 biolink:NamedThing Ivory epiphyses of the middle phalanges of the hand Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. hp0009lx5z Increased bone density of end part of the middle hand bones doelkens 2009-07-06T04:24:15Z UMLS:C4023938 human_phenotype owl:Class HP:0005376 biolink:NamedThing Recurrent Haemophilus influenzae infections Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae. hp0009lx5z Recurrent H. influenzae infections UMLS:C4025204 human_phenotype owl:Class HP:0100589 biolink:NamedThing Urogenital fistula The presence of a fistula affecting the genitourinary system. hp0009lx5z doelkens 2010-12-27T04:09:23Z UMLS:C0853877 human_phenotype owl:Class HP:0003648 biolink:NamedThing Lacticaciduria An increased concentration of lactic acid in the urine. hp0009lx5z High urine lactic acid levels|Increased urine lactate UMLS:C4025585 owl:Class HP:0008455 biolink:NamedThing Dysplastic sacrum A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally. hp0009lx5z Partial sacral agenesis|Absence of some of the sacral and coccygeal bones|Sacral dysgenesis UMLS:C1851305 human_phenotype owl:Class HP:0100414 biolink:NamedThing Complete duplication of the proximal phalanx of the 4th toe hp0009lx5z Complete duplication of the innermost 4th toe bone UMLS:C4022104 human_phenotype owl:Class HP:0100813 biolink:NamedThing Testicular torsion Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain. hp0009lx5z Spermatic cord torsion Many of the symptoms of testicular torsion are similar to the infection epididymitis. doelkens 2011-06-09T02:03:12Z UMLS:C0037856|SNOMEDCT_US:49198006|MSH:D013086|SNOMEDCT_US:81996005 human_phenotype owl:Class HP:0033249 biolink:NamedThing Focal substantia nigra T2 hyperintensity Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging. hp0009lx5z Focal substantia nigra T2 hyperintense lesion 2020-11-25 14:16:38+00:00 peter owl:Class HP:0045007 biolink:NamedThing Abnormal substantia nigra morphology A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry. hp0009lx5z Abnormality of the substantia nigra HPO:skoehler UMLS:C4022403 owl:Class HP:0100480 biolink:NamedThing Proximal/middle symphalangism of 3rd toe Bony fusion of the middle and proximal phalanges of the 3rd toe. hp0009lx5z Symphalangism of the middle and proximal phalanges of the 3rd toe|Fused innermost and middle bones of 3rd toe UMLS:C4020975 human_phenotype owl:Class HP:0010378 biolink:NamedThing Triangular shaped phalanges of the 4th toe hp0009lx5z Triangular shaped bones of 4th toe doelkens 2009-07-16T11:51:46Z UMLS:C4023871 human_phenotype owl:Class HP:0100335 biolink:NamedThing Non-midline cleft lip Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. hp0009lx5z Paramedian cleft of the upper lip|Non-midline cleft of the upper lip doelkens 2010-10-13T04:12:24Z HP:0100332|HP:0010283 UMLS:C4021020 human_phenotype owl:Class HP:0000204 biolink:NamedThing Cleft upper lip A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. hp0009lx5z Harelip|Cheiloschisis of upper lip|Cleft upper lip|Cleft of upper lip UMLS:C0008924|MSH:D002971|SNOMEDCT_US:80281008|Fyler:4875 human_phenotype owl:Class HP:0004042 biolink:NamedThing Ulnar metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis of the ulna. hp0009lx5z Irregular ulnar metaphysis UMLS:C4021688 human_phenotype owl:Class HP:0011364 biolink:NamedThing White hair Hypopigmented hair that appears white. hp0009lx5z White hair peter 2012-03-01T09:50:48Z SNOMEDCT_US:297993006|UMLS:C0239804 human_phenotype owl:Class HP:0031749 biolink:NamedThing Abnormal lateral rectus muscle physiology A functional anomaly of the lateral rectus muscle. hp0009lx5z 2018-01-21 14:19:56+00:00 The lateral rectus muscle is responsible for abduction of the globe (moving the eyeball away from the nose). peter owl:Class HP:0031740 biolink:NamedThing Abnormal horizontal rectus muscle physiology A functional anomaly of the medial rectus muscle or lateral rectus muscle. hp0009lx5z 2018-01-21 13:56:55+00:00 peter owl:Class HP:0030232 biolink:NamedThing Increased sarcoplasmic glycogen Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers. hp0009lx5z UMLS:C4022566 owl:Class HP:0009051 biolink:NamedThing Increased muscle glycogen content An increased amount of glycogen in muscle tissue. hp0009lx5z UMLS:C1968729 human_phenotype owl:Class HP:0005093 biolink:NamedThing Absent proximal radial epiphyses Absence of the proximal radial epiphysis. hp0009lx5z UMLS:C1855301 human_phenotype owl:Class HP:0010577 biolink:NamedThing Absent epiphyses hp0009lx5z Absent end part of bone sandra1 2009-10-22T02:53:19Z UMLS:C4021862 human_phenotype owl:Class HP:0032721 biolink:NamedThing Focal motor seizure with paresis/paralysis A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation. hp0009lx5z peter owl:Class HP:0100249 biolink:NamedThing Calcification of muscles Deposition of calcium salts in muscle tissue. hp0009lx5z Skeletal muscle calcinosis doelkens 2010-07-09T12:32:25Z SNOMEDCT_US:446993003|UMLS:C2960760 human_phenotype owl:Class HP:0004499 biolink:NamedThing Chronic rhinitis due to narrow nasal airway hp0009lx5z Chronic nasal inflammation due to narrow nasal airway UMLS:C4025318 human_phenotype owl:Class HP:0002257 biolink:NamedThing Chronic rhinitis Chronic inflammation of the nasal mucosa. hp0009lx5z UMLS:C0008711|SNOMEDCT_US:86094006 human_phenotype owl:Class HP:0031951 biolink:NamedThing Nocturnal seizures Seizures that occur while the affected individual is sleeping. hp0009lx5z Sleep seizures 2018-07-07 12:33:57+00:00 peter owl:Class HP:0003402 biolink:NamedThing Decreased miniature endplate potentials An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. hp0009lx5z Small miniature endplate currents|Decreased MEPP|Small miniature endplate potentials Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft. UMLS:C1853952 human_phenotype owl:Class HP:0003398 biolink:NamedThing Abnormal synaptic transmission at the neuromuscular junction Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. hp0009lx5z Abnormality of neuromuscular transmission UMLS:C4020842|UMLS:C4025618 human_phenotype owl:Class HP:0025395 biolink:NamedThing Combined cystic and ground-glass pattern on pulmonary HRCT Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, hp0009lx5z 2017-04-22 13:05:42+00:00 HPO:probinson owl:Class HP:0031457 biolink:NamedThing Pulmonary opacity Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality. hp0009lx5z 2017-09-17 15:59:06+00:00 Increased pulmonary opacity is caused by a decrease in the ratio of gas to soft tissue (blood, lung parenchyma and stroma) in the lung. peter owl:Class HP:0012729 biolink:NamedThing Saccular descending thoracic aortic aneurysm An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall hp0009lx5z Dilatation of the saccular descending thoracic aorta Aneurysm is considered a severe form of dilatation. peter 2014-03-23T02:27:11Z UMLS:C4022752 human_phenotype owl:Class HP:0004959 biolink:NamedThing Descending thoracic aorta aneurysm An abnormal localized widening (dilatation) of the descending thoracic aorta. hp0009lx5z Dilatation of the descending thoracic aorta peter 2008-03-25T06:32:00Z HP:0004954 UMLS:C4025266|Fyler:2754 human_phenotype owl:Class HP:0001355 biolink:NamedThing Megalencephaly Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). hp0009lx5z Enlarged brain|Macrencephaly UMLS:C0221355|MSH:D058627|SNOMEDCT_US:19410003 human_phenotype owl:Class HP:0410132 biolink:NamedThing Increased level of L-pyroglutamic acid in urine An increase in the level of L-pyroglutamic acid in the urine. hp0009lx5z Elevated urine 5-oxoproline|Increased level of 5-oxo-L-proline in urine 2018-02-22 18:07:36+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0031360 biolink:NamedThing Yellow skin plaque A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color. hp0009lx5z 2017-08-27 15:56:50+00:00 peter owl:Class HP:0200035 biolink:NamedThing Skin plaque A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. hp0009lx5z sebastiankohler 2010-06-18T01:39:28Z UMLS:C0241148|SNOMEDCT_US:276322001|SNOMEDCT_US:128177006 human_phenotype owl:Class HP:0030623 biolink:NamedThing Intraretinal hyporeflective spaces on macular OCT hp0009lx5z UMLS:C4073093 owl:Class HP:0030625 biolink:NamedThing Hyporeflective spaces on macular OCT hp0009lx5z UMLS:C4073095 owl:Class HP:0006495 biolink:NamedThing Aplasia/Hypoplasia of the ulna Absence or underdevelopment of the ulna. hp0009lx5z Absence/underdevelopment of inner forearm bone|Absent/small ulna|Hypoplasia or unilateral/bilateral absence of ulna|ulnar hypoplasia/aplasia|Absent-hypoplastic ulnae peter 2008-03-28T06:15:00Z HP:0006410|HP:0006372|HP:0005097 UMLS:C1865571 human_phenotype owl:Class HP:0100235 biolink:NamedThing Synostosis involving bones of the toes hp0009lx5z Fusion involving bones of the toes doelkens 2010-06-24T05:26:38Z UMLS:C4022186 human_phenotype owl:Class HP:0011401 biolink:NamedThing Delayed peripheral myelination Delayed myelination in the peripheral nervous system. hp0009lx5z peter 2012-03-12T08:08:41Z UMLS:C4023374 human_phenotype owl:Class HP:0000141 biolink:NamedThing Amenorrhea Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. hp0009lx5z Abnormal absence of menstruation UMLS:C2219717 human_phenotype owl:Class HP:0000140 biolink:NamedThing Abnormality of the menstrual cycle An abnormality of the ovulation cycle. hp0009lx5z Menstrual abnormalities|Abnormality of the menstrual cycle UMLS:C4025888|UMLS:C3549779 human_phenotype owl:Class HP:0033700 biolink:NamedThing Papulovesicular eruption An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point. hp0009lx5z Papulo-vesicular eruption 2021-03-07 23:10:27+00:00 peter owl:Class HP:0009674 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the thumb A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Triangular end part of thumb innermost long bone doelkens 2009-01-30T09:17:13Z UMLS:C4024243 human_phenotype owl:Class HP:0004626 biolink:NamedThing Lumbar scoliosis hp0009lx5z UMLS:C2748518 human_phenotype owl:Class HP:0025157 biolink:NamedThing Increased urinary sedoheptulose An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group. hp0009lx5z 2016-12-04 12:36:02+00:00 HPO:probinson owl:Class HP:0025509 biolink:NamedThing Piezogenic pedal papules Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum. hp0009lx5z 2017-05-14 23:43:34+00:00 HPO:probinson owl:Class HP:0000557 biolink:NamedThing Buphthalmos Diffusely large eye (with megalocornea) associated with glaucoma. hp0009lx5z Enlarged eyeball Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched. MSH:D006871|UMLS:C4551507 owl:Class HP:0012252 biolink:NamedThing Abnormal respiratory system morphology A structural anomaly of the respiratory system. hp0009lx5z peter 2013-04-07T09:11:09Z Fyler:4235|UMLS:C4022992 human_phenotype owl:Class HP:0002086 biolink:NamedThing Abnormality of the respiratory system An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. hp0009lx5z Respiratory abnormality UMLS:C4018871 owl:Class HP:0004614 biolink:NamedThing Spina bifida occulta at S1 The closed form of spina bifida with incomplete closure of S1 with intact overlying skin. hp0009lx5z UMLS:C4025304 human_phenotype owl:Class HP:0410043 biolink:NamedThing Abnormal neural tube morphology Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). hp0009lx5z 2017-09-20 00:25:37+00:00 ORCID:0000-0001-5208-3432 Fyler:4339 owl:Class HP:0012031 biolink:NamedThing Lipomatous tumor hp0009lx5z Lipomatous tumour peter 2012-07-27T01:32:28Z MSH:D018205|MPATH:415|SNOMEDCT_US:254831005|SNOMEDCT_US:115227001|SNOMEDCT_US:254827004|UMLS:C0206631 human_phenotype owl:Class HP:0200013 biolink:NamedThing Neoplasm of fatty tissue A tumor (abnormal growth of tissue) of adipose tissue. hp0009lx5z Tumour of fatty tissue|Tumor of fatty tissue sebastiankohler 2010-06-10T09:37:17Z NCIT:C3262|UMLS:C4021901 owl:Class HP:0009125 biolink:NamedThing Lipodystrophy Degenerative changes of the fat tissue. hp0009lx5z Inability to make and keep healthy fat tissue peter 2008-04-05T11:40:00Z UMLS:C0023787|MSH:D008060|SNOMEDCT_US:71325002 human_phenotype owl:Class HP:0500138 biolink:NamedThing Hyperserinemia An increased amount of serine in the blood. hp0009lx5z Increased serine blood concentration|High blood serine levels|Elevated circulating serine levels 2018-10-01 16:54:02+00:00 owl:Class HP:0012278 biolink:NamedThing Abnormal circulating serine concentration Any deviation from the normal concentration of serine in the blood circulation. hp0009lx5z peter 2013-04-07T03:57:10Z UMLS:C4022972 human_phenotype owl:Class HP:0006446 biolink:NamedThing Dysplastic patella hp0009lx5z UMLS:C1849580 human_phenotype owl:Class HP:0006844 biolink:NamedThing Absent patellar reflexes Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. hp0009lx5z Absent knee jerk reflex SNOMEDCT_US:274817009|UMLS:C0558844 human_phenotype owl:Class HP:0002522 biolink:NamedThing Areflexia of lower limbs Inability to elicit tendon reflexes in the lower limbs. hp0009lx5z Areflexia of the lower limbs|Areflexia, lower limbs|Areflexia in lower limbs|Absent lower limb tendon reflexes UMLS:C1856694 human_phenotype owl:Class HP:0033020 biolink:NamedThing Female reproductive system neoplasm A neoplasm that affects the female reproductive system. hp0009lx5z peter NCIT:C3053 owl:Class HP:0000434 biolink:NamedThing Nasal mucosa telangiectasia Telangiectasia of the nasal mucosa. hp0009lx5z Spider veins of nasal mucous membrane|Nasal mucous membrane telangiectasia|Angioectasia of mucous membrane of nose|Spider veins of mucosa of nose|Angioectasia of nasal mucous membrane|Angioectasia of mucosa of nose|Telangiectasia of nasal mucous membrane|Telangiectasia of mucous membrane of nose|Spider veins of mucous membrane of nose|Telangiectasia of mucosa of nose UMLS:C4025853 owl:Class HP:0030883 biolink:NamedThing Femoroacetabular impingement Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis. hp0009lx5z Femoral acetabular impingement MSH:D057925|SNOMEDCT_US:432473000|UMLS:C2936290 owl:Class HP:0001384 biolink:NamedThing Abnormal hip joint morphology An abnormality of the hip joint. hp0009lx5z Abnormality of the hip joint|Abnormality of the hip joints UMLS:C4020870 owl:Class HP:0033571 biolink:NamedThing Peripheral lung neovascularity The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy. hp0009lx5z 2021-01-24 13:48:10+00:00 peter owl:Class HP:0030773 biolink:NamedThing Internuclear ophthalmoplegia An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. hp0009lx5z MSH:D015835|UMLS:C0152134|SNOMEDCT_US:49823009 owl:Class HP:0025506 biolink:NamedThing Coronary artery sandwich anomaly Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, hp0009lx5z Anomalous coronary artery with aortic origin and course between the great arteries 2017-05-14 23:20:37+00:00 Further synonyms include Anomalous origin of the coronary artery from the opposite sinus of Valsalva with an interarterial course and Anomalous origin of the coronary artery from the wrong sinus of Valsalva with a proximal course between the aorta and pulmonary artery HPO:probinson owl:Class HP:0025503 biolink:NamedThing Anomalous coronary artery arising from the opposite sinus Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva. hp0009lx5z 2017-05-14 22:28:08+00:00 There are three sinus in the wall of the aorta just superior to the aortic semilunar valve. The right coronary artery normally arises from the right sinus of Valsalva (RSV) of the ascending aorta. The left main coronary artery (LMCA) normally arises from the left sinus of Valsava. The third sinus, the right posterior aortic sinus does not normally give rise to a coronary artery. HPO:probinson owl:Class HP:0020132 biolink:NamedThing Thickening of the tubular basement membrane Increase in thickness of the basement membrane of the tubulus of the kidney. hp0009lx5z robinp 2019-07-05 16:56:26+00:00 owl:Class HP:0000652 biolink:NamedThing Lower eyelid coloboma A short discontinuity of the margin of the lower eyelid. hp0009lx5z Lower lid coloboma|Notched lower eyelid|Full thickness defect of the lower eyelid|Cleft lower eyelid|Coloboma of lower eyelid HP:0007909 UMLS:C1837826 human_phenotype owl:Class HP:0032619 biolink:NamedThing Perinephric abscess A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). hp0009lx5z Detecting its presence can be diagnostically challenging because, in its chronic form, it usually develops insidiously, and in some cases its appearance can even simulate a renal tumour. The presence of a perinephric collection of purulent material around the kidneys occurs more often insidiously as a secondary phenomenon to upper tract urosepsis, classically in association with an infective staghorn renal calculus. peter owl:Class HP:0003688 biolink:NamedThing Cytochrome C oxidase-negative muscle fibers An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. hp0009lx5z Decreased activity of cytochrome C oxidase in muscle tissue|Cytochrome C oxidase-negative muscle fibres|Decreased skeletal muscle cytochrome c oxidase activity|Cytochrome c oxidase deficiency in skeletal muscle This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane. HP:0003734|HP:0009006 UMLS:C4021724 owl:Class HP:0003800 biolink:NamedThing Muscle abnormality related to mitochondrial dysfunction hp0009lx5z UMLS:C4025566 human_phenotype owl:Class HP:0006781 biolink:NamedThing Hurthle cell thyroid adenoma A kind of thyroid adenoma characterized by the presence of oxyphil cells. hp0009lx5z Oxyphil cells of thyroid, defined by the Cell Ontology as oncocytes located in the thyroid, are also known as Hurthle cells. UMLS:C1336750 human_phenotype owl:Class HP:0011752 biolink:NamedThing Neoplasm of the posterior pituitary The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis. hp0009lx5z Neoplasm of the neurohypophysis peter 2012-04-22T01:31:18Z UMLS:C1334957|NCIT:C3262 human_phenotype owl:Class HP:0011751 biolink:NamedThing Abnormality of the posterior pituitary An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis. hp0009lx5z Abnormality of the neurohypophysis peter 2012-04-22T01:20:33Z UMLS:C4023204 human_phenotype owl:Class HP:0100697 biolink:NamedThing Neurofibrosarcoma A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma. hp0009lx5z Neurosarcoma|Malignant schwannoma|Malignant peripheral nerve sheath tumor|Malignant peripheral nerve sheath tumour About half the cases are diagnosed in people with neurofibromatosis. doelkens 2011-03-29T11:40:44Z MSH:D018319|MSH:D009442|UMLS:C0206729|SNOMEDCT_US:404037002|UMLS:C0751690|NCIT:C3798|SNOMEDCT_US:19897006|SNOMEDCT_US:77418004 human_phenotype owl:Class HP:0100572 biolink:NamedThing Fibrous cardiac diverticulum A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly. hp0009lx5z Congenital ventricular aneurysm doelkens 2010-12-21T05:14:00Z UMLS:C4020964 human_phenotype owl:Class HP:0006698 biolink:NamedThing Dilatation of the ventricular cavity A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. hp0009lx5z Ventricular aneurysm Aneurysm is considered a severe form of dilatation. Ventricular aneurysms may have rim of calcium in the affected regions of the ventricular wall (which can become fibrotic). Thromboembolism is a potential complication. Ventricular aneurysms can be diagnosed by ventriculography. SNOMEDCT_US:90539001|UMLS:C0392464 human_phenotype owl:Class HP:0025053 biolink:NamedThing Elevated brain N-acetyl aspartate level by MRS An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy 2016-09-26 08:52:49+00:00 HPO:probinson owl:Class HP:0025052 biolink:NamedThing Abnormal brain N-acetyl aspartate level by MRS A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy 2016-09-26 08:50:52+00:00 HPO:probinson owl:Class HP:0010260 biolink:NamedThing Enlarged epiphyses of the middle phalanges of the hand hp0009lx5z Enlarged end part of the middle hand bones doelkens 2009-07-06T04:24:15Z UMLS:C4023941 human_phenotype owl:Class HP:0041217 biolink:NamedThing Fractured shoulder A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint. hp0009lx5z bone shoulder joint owl:Class HP:0009810 biolink:NamedThing Abnormality of upper limb joint hp0009lx5z Abnormality of upper limb joint|Abnormality of the joints of the upper limbs doelkens 2009-02-23T04:57:56Z UMLS:C4021387 human_phenotype owl:Class HP:0030745 biolink:NamedThing Dilatation of the ductus arteriosus A saccular or fusiform dilation and elongation of the ductus arteriosus. hp0009lx5z Ductus arteriosus aneurysm|Congenital ductus arteriosus aneurysm Aneurysm is considered a severe form of dilatation. SNOMEDCT_US:233990006|UMLS:C0398357 owl:Class HP:0012266 biolink:NamedThing T-wave alternans A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG. hp0009lx5z peter 2013-04-07T10:23:08Z UMLS:C1998313|SNOMEDCT_US:428550008 human_phenotype owl:Class HP:0200049 biolink:NamedThing Upper limb hypertonia hp0009lx5z koehlers UMLS:C4021898 human_phenotype owl:Class HP:0002509 biolink:NamedThing Limb hypertonia hp0009lx5z Increased muscle tone of arm or leg UMLS:C1838391 human_phenotype owl:Class HP:0009637 biolink:NamedThing Absent proximal phalanx of thumb Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Absent innermost thumb bone|Aplasia of the proximal phalanx of the thumb|Absent ossification/absent proximal thumb phalanx doelkens 2009-01-29T05:11:02Z HP:0004077 UMLS:C4021418 human_phenotype owl:Class HP:0025139 biolink:NamedThing Increased serum estrone An elevation above normal limits of the concentration of estrone in the circulation. hp0009lx5z 2016-11-27 14:15:18+00:00 HPO:probinson owl:Class HP:0025138 biolink:NamedThing Abnormal serum estrone A deviation from the normal concentration of circulating estrone. hp0009lx5z 2016-11-27 14:14:35+00:00 HPO:probinson owl:Class HP:0007832 biolink:NamedThing Pigmentation of the sclera hp0009lx5z Pigmentation of the outer white part of the eyeball UMLS:C1859882 human_phenotype owl:Class HP:0009685 biolink:NamedThing Triangular epiphysis of the distal phalanx of the thumb A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. hp0009lx5z Triangular end part of thumb outermost bone|Triangular epiphysis of the outermost bone of the thumb doelkens 2009-01-30T09:18:09Z UMLS:C4024234 human_phenotype owl:Class HP:0007822 biolink:NamedThing Central retinal exudate hp0009lx5z UMLS:C4024793 human_phenotype owl:Class HP:0001147 biolink:NamedThing Retinal exudate Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina. hp0009lx5z Retinal exudates Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema. SNOMEDCT_US:39832008|UMLS:C0240897 human_phenotype owl:Class HP:0008729 biolink:NamedThing Absence of labia majora hp0009lx5z Absent vaginal lips UMLS:C1849575 human_phenotype owl:Class HP:0012881 biolink:NamedThing Abnormal labia majora morphology An anomaly of the outer labia. hp0009lx5z Abnormality of the labia majora|Abnormality of vaginal lips hecht 2014-06-11T07:46:41Z UMLS:C4022695 owl:Class HP:0008682 biolink:NamedThing Renal tubular epithelial necrosis Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). hp0009lx5z Acute tubular necrosis|Renal tubular necrosis Renal tubular epithelial necrosis is a histomorphological definition that corresponds to the clinical term of acture tubular necrosis. Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases. UMLS:C0022672|SNOMEDCT_US:35455006|MSH:D007683 owl:Class HP:0020200 biolink:NamedThing Increased circulating 18-hydroxycortisone level An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation. hp0009lx5z robinp 2019-09-05 14:22:21+00:00 owl:Class HP:0031662 biolink:NamedThing Fixed splitting of the second heart sound Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. hp0009lx5z Fixed splitting of S2 2017-12-17 16:08:14+00:00 Fixed splitting of S2 may occur in patients with secundum atrial septal defect. peter owl:Class HP:0032727 biolink:NamedThing Focal emotional seizure with agitation Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. hp0009lx5z These seizures arise in mesial temporal networks, especially the amygdala. They can be distinguished from panic attacks, by the presence of impaired awareness, automatisms and other features of an epileptic seizure appearing in a stereotyped manner. They are also distinguished from a focal autonomic seizure with epigastric sensation, where the onset seizure feature is an autonomic epigastric sensation, and fear may be present as a secondary feature. peter owl:Class HP:0003487 biolink:NamedThing Babinski sign Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. hp0009lx5z Positive Babinski sign|Extensor plantar reflexes|Extensor plantar response|Extensor plantar responses A positive Babinski sign can indicate damage to the corticospinal tract. HP:0001352 SNOMEDCT_US:366575004|SNOMEDCT_US:246586009|UMLS:C0034935 human_phenotype owl:Class HP:0006232 biolink:NamedThing Expanded metacarpals with widened medullary cavities hp0009lx5z UMLS:C1969288 human_phenotype owl:Class HP:0009208 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger. hp0009lx5z Irregular end part of the middle bone of the pinky finger|Irregular end part of the middle bone of the little finger|Irregular end part of the middle bone of the pinkie finger doelkens 2009-01-05T05:22:18Z UMLS:C4024532 human_phenotype owl:Class HP:0004979 biolink:NamedThing Metaphyseal sclerosis Abnormally increased density of metaphyseal bone. hp0009lx5z Increased bone density in wide portion of long bone|Sclerotic metaphyses UMLS:C3552526 human_phenotype owl:Class HP:0041195 biolink:NamedThing Fractured epiphysis of third metatarsal bone A partial or complete breakage of the epiphysis of third metatarsal bone. hp0009lx5z bone epiphysis of third metatarsal bone owl:Class HP:0006237 biolink:NamedThing Prominent interphalangeal joints hp0009lx5z Prominent hinge joints UMLS:C1859115 human_phenotype owl:Class HP:0003894 biolink:NamedThing Delayed humeral epiphyseal ossification A delay in the process of formation and maturation of the humeral epiphysis. hp0009lx5z Delayed maturation/delayed ossification of the humeral epiphyses|Delayed maturation of the end part of the long bone in upper arm UMLS:C4021712|UMLS:C4280543 human_phenotype owl:Class HP:0012205 biolink:NamedThing Globozoospermia Any structural anomaly of the acrosome resulting in a round sperm head. hp0009lx5z peter 2013-03-12T12:21:08Z UMLS:C0403825|SNOMEDCT_US:236818008|MSH:D000072660 human_phenotype owl:Class HP:0000322 biolink:NamedThing Short philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. hp0009lx5z Vertical hypoplasia of philtrum|Decreased vertical dimension of philtrum|Decreased height of philtrum|Decreased length of philtrum HP:0200090 UMLS:C1861324 human_phenotype owl:Class HP:0033555 biolink:NamedThing Anti-Ro/SS-A antibody positivity The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. hp0009lx5z 2021-01-23 11:41:41+00:00 Anti-Ro/SS-A antibodies alone are found in 50-70% of Sjoegren syndrome and 30% of systemic lupus erythematosus (SLE) with cutaneous involvement. peter owl:Class HP:0008035 biolink:NamedThing Retinitis pigmentosa inversa Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). hp0009lx5z Central retinitis pigmentosa HP:0008506 UMLS:C4021559 human_phenotype owl:Class HP:0000546 biolink:NamedThing Retinal degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. hp0009lx5z Retina degeneration HP:0007863|HP:0007632|HP:0007790|HP:0007893 MSH:D012162|SNOMEDCT_US:95695004|UMLS:C0035304 human_phenotype owl:Class HP:0006387 biolink:NamedThing Wide distal femoral metaphysis Increased width of the distal part of the shaft (metaphysis) of the femur. hp0009lx5z Wide distal metaphysis of femur|Broad outermost wide portion of thighbone UMLS:C1849309 human_phenotype owl:Class HP:0030299 biolink:NamedThing Distal femoral metaphyseal abnormality An anomaly of the metaphysis of the distal femur (close to the knee). hp0009lx5z Abnormality of wide portion of outermost thighbone UMLS:C4022527 owl:Class HP:0000623 biolink:NamedThing Supranuclear ophthalmoplegia A vertical gaze palsy with inability to direct the gaze of the eyes downwards. hp0009lx5z UMLS:C1408507 human_phenotype owl:Class HP:0003302 biolink:NamedThing Spondylolisthesis Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. hp0009lx5z Slipped backbone|Spondylolithesis|Displacement of one backbone compared to another UMLS:C0038016|MSH:D013168|SNOMEDCT_US:274152003 human_phenotype owl:Class HP:0010468 biolink:NamedThing Aplasia/Hypoplasia of the testes Absence or underdevelopment of the testes. hp0009lx5z Absent/small testes|Absent/underdeveloped testes peter 2009-09-15T09:28:46Z UMLS:C4023817 human_phenotype owl:Class HP:0010307 biolink:NamedThing Stridor Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. hp0009lx5z Noisy breathing Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract. peter 2009-07-12T02:16:48Z SNOMEDCT_US:248573009|UMLS:C0038450|UMLS:C0237304|SNOMEDCT_US:70407001|MSH:D012135 human_phenotype owl:Class HP:0009695 biolink:NamedThing Stippling of thumb epiphysis The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb. hp0009lx5z Stippling of the epiphyses of the thumb|Speckled calcifications in end part of thumb bone doelkens 2009-01-30T09:20:16Z UMLS:C4021401 human_phenotype owl:Class HP:0030788 biolink:NamedThing Impacted cerumen Blockage of the external auditory canal by a buildup of earwax. hp0009lx5z SNOMEDCT_US:18070006|UMLS:C0021092 owl:Class HP:0030787 biolink:NamedThing Cerumen abnormality Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal. hp0009lx5z UMLS:C4280769 owl:Class HP:0009426 biolink:NamedThing Distal/middle symphalangism of 3rd finger Fusion of the terminal/distal and middle phalanges of the 3rd finger. hp0009lx5z Fused outermost and middle bones of middle finger|Symphalangism of the distal and middle phalanges of the 3rd finger doelkens 2009-01-14T03:16:46Z HP:0009479|HP:0009480 UMLS:C4021477 human_phenotype owl:Class HP:0009435 biolink:NamedThing Symphalangism of middle phalanx of 3rd finger Fusion of the middle phalanx of the 3rd finger with another bone. hp0009lx5z Fused middle bone of middle finger doelkens 2009-01-14T03:41:31Z UMLS:C4024363 human_phenotype owl:Class HP:0005487 biolink:NamedThing Prominent metopic ridge Vertical bony ridge positioned in the midline of the forehead. hp0009lx5z Prominent frontal suture|Prominent frontal ridge|Ridging of frontal suture|Prominent metopic suture|Ridging of metopic suture The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead. HP:0005751|HP:0005488 UMLS:C1857949 human_phenotype owl:Class HP:0032732 biolink:NamedThing Focal aware motor seizure with paresis/paralysis A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure. hp0009lx5z Focal motor aware seizure with paresis/paralysis peter owl:Class HP:0002207 biolink:NamedThing Diffuse reticular or finely nodular infiltrations hp0009lx5z UMLS:C1843428 human_phenotype owl:Class HP:0002113 biolink:NamedThing Pulmonary infiltrates hp0009lx5z Lung infiltrates|Pulmonic infiltration UMLS:C0235896 human_phenotype owl:Class HP:0005954 biolink:NamedThing Pulmonary capillary hemangiomatosis hp0009lx5z Pulmonary hemangiomas UMLS:C0340548|SNOMEDCT_US:233949008 owl:Class HP:0005306 biolink:NamedThing Capillary hemangioma The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. hp0009lx5z Strawberry birthmark|Capillary hemangioma SNOMEDCT_US:83343001|SNOMEDCT_US:254206003|UMLS:C0206733|SNOMEDCT_US:56975005|SNOMEDCT_US:402867006|SNOMEDCT_US:195382003|MSH:D018324 human_phenotype owl:Class HP:0033169 biolink:NamedThing Reduced total lung capacity Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration. hp0009lx5z Reduced TLC 2020-09-24 10:13:03+00:00 peter owl:Class HP:0010730 biolink:NamedThing Double eyebrow This may present as a partial or complete duplication of the eyebrows. hp0009lx5z Duplication of eyebrow|Double eyebrow Double eyebrow is commonly a feature of Mowat Wilson syndrome. doelkens 2010-04-21T04:16:59Z UMLS:C0431449|SNOMEDCT_US:253209004 human_phenotype owl:Class HP:0001903 biolink:NamedThing Anemia A reduction in erythrocytes volume or hemoglobin concentration. hp0009lx5z Low number of red blood cells or haemoglobin|Low number of red blood cells or hemoglobin|Decreased hemoglobin|Decreased haemoglobin|Anaemia Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. HP:0001926|HP:0005509|HP:0003136 SNOMEDCT_US:271737000|UMLS:C0002871|UMLS:C0162119|MSH:D000740|SNOMEDCT_US:165397008 human_phenotype owl:Class HP:0007618 biolink:NamedThing Subcutaneous calcification Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). hp0009lx5z Skin calcification UMLS:C0263625|SNOMEDCT_US:17141001 human_phenotype owl:Class HP:0030366 biolink:NamedThing Delivery by Odon device The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process. hp0009lx5z UMLS:C4072905 owl:Class HP:0200022 biolink:NamedThing Choroid plexus papilloma Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus. hp0009lx5z sebastiankohler 2010-06-16T04:01:24Z UMLS:C0205770|NCIT:C3698|SNOMEDCT_US:18021007|MSH:D020288 human_phenotype owl:Class HP:0004935 biolink:NamedThing Pulmonary artery atresia A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. hp0009lx5z Pulmonary atresia Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. SNOMEDCT_US:204443008|UMLS:C0265908|SNOMEDCT_US:10930001 human_phenotype owl:Class HP:0009182 biolink:NamedThing Triangular shaped middle phalanx of the 5th finger Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped middle pinkie finger bone|Triangular shaped middle pinky finger bone|Triangular shaped middle little finger bone peter 2008-12-29T04:05:33Z UMLS:C4024552 human_phenotype owl:Class HP:0009253 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 4th finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the outermost bone of the ring finger doelkens 2009-01-07T12:07:34Z UMLS:C4024494 human_phenotype owl:Class HP:0009741 biolink:NamedThing Nephrosclerosis Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. hp0009lx5z Scarring of kidney arteries|Thickening of kidney artiries peter 2009-01-31T01:15:08Z MSH:D009400|UMLS:C0027719|SNOMEDCT_US:32916005 human_phenotype owl:Class HP:0006886 biolink:NamedThing Impaired distal vibration sensation A decrease in the ability to perceive vibration in the distal portions of the limbs. hp0009lx5z Decreased distal vibration sense UMLS:C1853767 human_phenotype owl:Class HP:0002495 biolink:NamedThing Impaired vibratory sensation A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. hp0009lx5z Impaired vibratory sense|Decreased vibration sense|Hypopallesthesia|Decreased vibratory sense|Impaired vibratory sensation|Diminished vibratory sense Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex. HP:0006836|HP:0007116 SNOMEDCT_US:130980003|UMLS:C1295585 owl:Class HP:0002470 biolink:NamedThing Nonprogressive cerebellar ataxia hp0009lx5z UMLS:C1845029 human_phenotype owl:Class HP:0032043 biolink:NamedThing Odynophagia Pain experienced with swallowing. hp0009lx5z Painful swallowing 2018-09-16 10:35:02+00:00 peter owl:Class HP:0033919 biolink:NamedThing Medial/intimal arcuate venulitis Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. hp0009lx5z 2021-06-24 00:52:50+00:00 peter owl:Class HP:0032783 biolink:NamedThing Focal aware autonomic seizure with piloerection A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0006926 biolink:NamedThing Metachromatic leukodystrophy variant hp0009lx5z HP:0007079 UMLS:C4024961 human_phenotype owl:Class HP:0002415 biolink:NamedThing Leukodystrophy Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. hp0009lx5z Degeneration of white matter of brain The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible. UMLS:C0023520|SNOMEDCT_US:192781003 owl:Class HP:0004312 biolink:NamedThing Abnormal reticulocyte morphology A reticulocyte abnormality. hp0009lx5z Abnormality of reticulocytes Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining. peter 2008-02-20T03:19:00Z UMLS:C4025358 human_phenotype owl:Class HP:0007351 biolink:NamedThing Upper limb postural tremor A type of tremors that is triggered by holding an arm in a fixed position. hp0009lx5z Postural tremor of arms HP:0007297 UMLS:C1867138 human_phenotype owl:Class HP:0200085 biolink:NamedThing Limb tremor hp0009lx5z Involuntary shaking of limb|Limb tremor|Tremor of limbs sebastiankohler 2013-06-04T02:39:15Z MSH:D014202|UMLS:C0235081 human_phenotype owl:Class HP:0008953 biolink:NamedThing Pectoralis major hypoplasia Underdevelopment of the pectoralis major. hp0009lx5z Pectoralis major muscle hypoplasia The pectoralis major is a thick, fan-shaped muscle of the anterior chest. UMLS:C1840086 human_phenotype owl:Class HP:0002187 biolink:NamedThing Intellectual disability, profound Profound mental retardation is defined as an intelligence quotient (IQ) below 20. hp0009lx5z Profound mental retardation|Mental retardation, profound|IQ less than 20 Persons with profound mental retardation generally require constant care. MSH:D008607|UMLS:C3161330|UMLS:C0020796|SNOMEDCT_US:31216003 human_phenotype owl:Class HP:0010392 biolink:NamedThing Abnormality of the distal phalanx of the 5th toe hp0009lx5z Abnormality of the outermost bone of the pinky toe|Abnormality of the outermost bone of the little toe|Abnormality of the outermost bone of the pinkie toe doelkens 2009-07-16T11:52:18Z UMLS:C4023862 human_phenotype owl:Class HP:0008373 biolink:NamedThing Puberty and gonadal disorders hp0009lx5z Puberty and gonadal disorders peter 2008-04-04T12:35:00Z HP:0000827 UMLS:C4024685 human_phenotype owl:Class HP:0002353 biolink:NamedThing EEG abnormality Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. hp0009lx5z EEG abnormalities|Abnormal electroencephalogram|Electroencephalogram abnormalities|Abnormal EEG|Electroencephalogram abnormal HP:0001346|HP:0002429|HP:0006841 SNOMEDCT_US:274521009|UMLS:C0151611 human_phenotype owl:Class HP:0007385 biolink:NamedThing Aplasia cutis congenita of scalp A developmental defect resulting in the congenital absence of skin on the scalp. hp0009lx5z Focal absence of scalp tissue|Scalp aplasia cutis congenita|Defect of scalp|Solitary scalp defect|Scalp defect HP:0007568|HP:0000994 UMLS:C1855698|UMLS:C4048801|UMLS:C4072857|UMLS:C4072858 human_phenotype owl:Class HP:0001057 biolink:NamedThing Aplasia cutis congenita A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. hp0009lx5z Congenital absence of skin|Absence of part of skin at birth|Congenital scars|Cutis aplasia UMLS:C0282160|MSH:D004476|SNOMEDCT_US:254237003|SNOMEDCT_US:35484002|UMLS:C0265989|SNOMEDCT_US:74223008|MEDDRA:10002963 human_phenotype owl:Class HP:0000965 biolink:NamedThing Cutis marmorata A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. hp0009lx5z HP:0001037 UMLS:C0263401 owl:Class HP:0025219 biolink:NamedThing Triggered by vaccination Applies to a sign or symptom that is provoked or brought about by a vaccination. hp0009lx5z Vaccination triggered symptoms|Triggered by vaccination|Triggered by immunisation|Triggered by immunization 2016-12-10 14:04:16+00:00 HPO:probinson owl:Class HP:0033313 biolink:NamedThing Urinary space collagenization Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. hp0009lx5z Collagenization of the urinary space 2020-11-29 13:10:01+00:00 peter owl:Class HP:0033312 biolink:NamedThing Abnormal Bowman space morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. hp0009lx5z 2020-11-29 13:07:36+00:00 Bowman's capsule is a part of the nephron that forms a cup-like sack surrounding the glomerulus. The capsule encloses a space called Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. Bowman's capsule, Bowman's space, and the glomerular capillary network and its supporting architecture can collectively be thought of as composing the glomerulus. peter owl:Class HP:0000276 biolink:NamedThing Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). hp0009lx5z Vertical overgrowth of face|Elongation of face|Long facies|Vertical Facial Excess|Vertical enlargement of face|Vertical excess of face|Increased height of face|Vertical elongation of face|Long face|Increased vertical dimension of face|Vertical hyperplasia of face|Increased length of face Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. HP:0000334 UMLS:C1836047 human_phenotype owl:Class HP:0100729 biolink:NamedThing Large face hp0009lx5z Large facies|Large face|Big face doelkens 2011-06-06T04:50:47Z UMLS:C2748652 human_phenotype owl:Class HP:0032763 biolink:NamedThing Focal autonomic seizure with pupillary dilation/constriction A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature. hp0009lx5z peter owl:Class HP:0025238 biolink:NamedThing Foot pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot. hp0009lx5z Foot pain 2016-12-16 11:55:08+00:00 HPO:probinson owl:Class HP:0011022 biolink:NamedThing Abnormal circulating unsaturated fatty acid concentration A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation. hp0009lx5z peter 2011-02-28T09:04:58Z UMLS:C4023590 human_phenotype owl:Class HP:0006585 biolink:NamedThing Congenital pseudoarthrosis of the clavicle The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. hp0009lx5z Pseudoarthrosis of clavicle|Bipartite clavicle|Clavicle pseudoarthrosis In congenital pseudarthrosis of the clavicle, the two primary ossification centers fail to unite, probably due to a disruption of diaphyseal membranous ossification. See PMID:22295044, Figure 1, for the radiographic appearance of this feature. HP:0006661|HP:0006612 SNOMEDCT_US:249685004|SNOMEDCT_US:249690001|UMLS:C0426811|UMLS:C0426806 human_phenotype owl:Class HP:0006710 biolink:NamedThing Aplasia/Hypoplasia of the clavicles Absence or underdevelopment of the clavicles (collar bones). hp0009lx5z Absent/underdeveloped collarbone|Absent/small collarbone peter 2008-03-29T03:53:00Z UMLS:C4024993 human_phenotype owl:Class HP:0025634 biolink:NamedThing Abnormal ureter physiology A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. hp0009lx5z 2019-04-26 17:43:08+00:00 HPO:probinson owl:Class HP:0000069 biolink:NamedThing Abnormality of the ureter An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. hp0009lx5z Ureteral anomalies|Ureter issue|Abnormality of the ureters HP:0006001 UMLS:C1840382 human_phenotype owl:Class HP:0033426 biolink:NamedThing Pulmonary air embolism Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation. hp0009lx5z Venous air embolism 2021-01-09 17:42:24+00:00 peter owl:Class HP:0002204 biolink:NamedThing Pulmonary embolism An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. hp0009lx5z Blood clot in artery of lung SNOMEDCT_US:59282003|MSH:D011655|UMLS:C0034065 owl:Class HP:0007468 biolink:NamedThing Perifollicular hyperkeratosis Increased amount of keratin (visible as white scales) surrounding hair follicles. hp0009lx5z UMLS:C4024867 human_phenotype owl:Class HP:0009671 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb. hp0009lx5z doelkens 2009-01-30T09:17:13Z UMLS:C4024246 human_phenotype owl:Class HP:0033291 biolink:NamedThing Glomerular karyhorrhectic debris Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. hp0009lx5z 2020-11-28 21:25:04+00:00 peter owl:Class HP:0032648 biolink:NamedThing Tubularization of Bowman capsule The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. hp0009lx5z peter owl:Class HP:0008873 biolink:NamedThing Disproportionate short-limb short stature A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. hp0009lx5z Short-limb dwarfism|Short limb dwarfism|Dwarfism, short-limbed|Disproportionate short limb dwarfism|Short stature, disproportionate short-limb|Brachymelic dwarfism|Micromelic dwarfism|Short stature, disproportionate short limb|Short limb dwarfism, disproportionate|Short-limbed dwarfism A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs). HP:0008912|HP:0003505|HP:0008869|HP:0008889|HP:0008881|HP:0003509|HP:0008858|HP:0008880|HP:0001523|HP:0008875|HP:0008928|HP:0008914 UMLS:C1849937 human_phenotype owl:Class HP:0004437 biolink:NamedThing Cranial hyperostosis Excessive growth of the bones of cranium, i.e., of the skull. hp0009lx5z Thick skull bones|Overgrowth of skull bones|Hypertrophy of cranial bones|Hyperostosis of cranial bones|Enlargement of skull bones|Excessive growth of skull bones|Hyperostosis of cranial vault|Increased ossification of cranial bones peter 2008-03-18T09:57:00Z HP:0002698 UMLS:C4280530|UMLS:C4280531|UMLS:C4280528|UMLS:C4280529|UMLS:C1832451 human_phenotype owl:Class HP:0005354 biolink:NamedThing Lack of T cell function Complete inability of T cells to perform their functions in cell-mediated immunity. hp0009lx5z Absent cellular immunity UMLS:C1849426 human_phenotype owl:Class HP:0011840 biolink:NamedThing Abnormality of T cell physiology A functional anomaly of T cells. hp0009lx5z peter 2012-05-06T10:44:50Z HP:0005402 UMLS:C4023166 human_phenotype owl:Class HP:0007616 biolink:NamedThing Nevus flammeus nuchae Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. hp0009lx5z Angel's kiss|Salmon patch|Stork bite|Port-wine stain on neck The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area. UMLS:C4024829|UMLS:C0860468|UMLS:C4280438 human_phenotype owl:Class HP:0010359 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 3rd toe hp0009lx5z Absent/small bones of 3rd toe|Absent/underdeveloped bones of 3rd toe doelkens 2009-07-16T11:51:17Z UMLS:C4023882 human_phenotype owl:Class HP:0041059 biolink:NamedThing Chronic (near) absent circulating IgG4 A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured. hp0009lx5z Chronic (near) absent IgG4 in blood owl:Class HP:0041058 biolink:NamedThing Chronic decreased circulating IgG4 A lasting decrease of immunoglobulin G4 (IgG4) in the blood. hp0009lx5z Chronic decreased IgG4 in blood owl:Class HP:0007029 biolink:NamedThing Cerebral berry aneurysm A small, sac-like aneurysm (outpouching) of a cerebral blood vessel. hp0009lx5z Cerebral saccular aneurysm Saccular aneurysms are often said to have a berry-shaped appearance, whence the name. MSH:D000783|UMLS:C2713497|SNOMEDCT_US:54002007 human_phenotype owl:Class HP:0004944 biolink:NamedThing Dilatation of the cerebral artery The presence of a localized dilatation or ballooning of a cerebral artery. hp0009lx5z Cerebral aneurysm|Intracranial aneurysm|Cerebral artery aneurysm|Brain aneurysm Aneurysm is considered a severe form of dilatation. HP:0002618|HP:0006816 UMLS:C0751003|UMLS:C1290398|SNOMEDCT_US:128608001|MSH:D002532 human_phenotype owl:Class HP:3000011 biolink:NamedThing Abnormality of palatoglossus muscle An abnormality of a palatoglossus muscle. hp0009lx5z vasilevs 2015-02-26T03:56:03Z UMLS:C4073220 human_phenotype owl:Class HP:0040174 biolink:NamedThing Abnormality of extrinsic muscle of tongue hp0009lx5z Abnormality of extrinsic lingual muscle HPO:skoehler UMLS:C4073140 owl:Class HP:0000039 biolink:NamedThing Epispadias Displacement of the urethral opening on the dorsal (superior) surface of the penis. hp0009lx5z Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately. UMLS:C0563449|SNOMEDCT_US:406477003 human_phenotype owl:Class HP:0100627 biolink:NamedThing Displacement of the urethral meatus A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). hp0009lx5z Displacement of the male external urethral orifice|Displacement of the external urethral orifice Congenital misplacement of the urethral orifice is called hypospadias when it is located in the underside (ventral aspect) of the penis, and epispadias when located in the dorsum (upper aspect). doelkens 2010-12-28T05:02:59Z UMLS:C4020961 human_phenotype owl:Class HP:0032948 biolink:NamedThing Renal interstitial fibrosis The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. hp0009lx5z Tubular atrophy (TA) is defined as loss of specialized transport and metabolic capacity and typically manifested by small tubules with cells with pale cytoplasm or dilated, thin tubules. TA is usually associated with IF, but probably has distinct mechanisms related to blood flow, glomerular filtration rate (GFR) or tubular continuity loss. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). peter owl:Class HP:0100937 biolink:NamedThing Sclerosis of the middle phalanx of the 4th toe hp0009lx5z Increased bone density in the middle bone of the 4th toe UMLS:C4021921 human_phenotype owl:Class HP:0500191 biolink:NamedThing Increased CSF leucine concentration Abnormally increased levels of leucine in cerebrospinal fluid. hp0009lx5z High leucine levels in cerebrospinal fluid 2019-02-25 15:53:12+00:00 owl:Class HP:0500189 biolink:NamedThing Abnormal CSF leucine concentration Any deviation from the normal concentration of leucine in the cerebrospinal fluid. hp0009lx5z Abnormal leucine levels in cerebrospinal fluid 2019-02-25 15:52:19+00:00 owl:Class HP:0030540 biolink:NamedThing Unaided visual acuity 0.5 LogMAR hp0009lx5z UMLS:C4073014 owl:Class HP:0004188 biolink:NamedThing Abnormal 4th finger morphology hp0009lx5z Abnormality of the ring finger|Abnormality of the 4th finger UMLS:C4021680 human_phenotype owl:Class HP:0031516 biolink:NamedThing Oocyte arrest at metaphase I Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. hp0009lx5z Oocyte meiotic arrest at metaphase I|Metaphase I oocyte meiotic arrest 2017-09-22 02:21:05+00:00 An essential feature of successful mammalian reproduction is the fusion of a sperm with a metaphase II oocyte. Oocytes are first arrested at prophase I and resume meiosis in response to luteinizing hormone (LH). Following spindle assembly and extrusion of the first polar body, oocytes are again arrested at metaphase II until fertilization.Failure of oocytes to progress beyond metaphase I of meiosis. peter owl:Class HP:0033338 biolink:NamedThing Abnormal female meiosis Anomalous oocyte meiosis hp0009lx5z 2020-11-29 18:29:47+00:00 peter owl:Class HP:0003031 biolink:NamedThing Ulnar bowing Bending of the diaphysis (shaft) of the ulna. hp0009lx5z Bowed ulna|Curving of inner forearm bone|Curved ulna Ulnar bowing is usually in the convex posterior direction. HP:0003983 UMLS:C1865847 human_phenotype owl:Class HP:0009650 biolink:NamedThing Short distal phalanx of the thumb Hypoplastic (short) distal phalanx of the thumb. hp0009lx5z Short terminal thumb phalanx|Hypoplastic/small distal phalanx of the thumb|Hypoplastic terminal thumb phalanx|Short thumb terminal phalanx|Short outermost bone of the thumb|Small terminal thumb phalanx doelkens 2009-01-29T05:22:06Z HP:0004087|HP:0004085 UMLS:C1862313 human_phenotype owl:Class HP:0010709 biolink:NamedThing 2-4 finger syndactyly Syndactyly with fusion of the fingers two to four. hp0009lx5z Syndactyly of second to fourth fingers|Webbed index through ring fingers sdoelken 2010-03-26T05:12:44Z HP:0005797|HP:0006018 UMLS:C4021236 human_phenotype owl:Class HP:0025107 biolink:NamedThing Cutis marmorata telangiectatica congenita A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. hp0009lx5z 2016-10-29 00:22:27+00:00 HPO:probinson owl:Class HP:0100431 biolink:NamedThing Broad distal phalanx of the 3rd toe hp0009lx5z Wide outermost bone of the 3rd toe|Broad outermost bone of the 3rd toe UMLS:C4022096 human_phenotype owl:Class HP:0010186 biolink:NamedThing Broad distal phalanx of the toes Increased width of the distal phalanx of toe of one or more toes. hp0009lx5z Broad outermost bone of the toe|Wide outermost bone of the toe doelkens 2009-05-29T01:52:41Z UMLS:C4023980 human_phenotype owl:Class HP:0010430 biolink:NamedThing Aplasia of the phalanges of the 2nd toe hp0009lx5z Absent 2nd toe bones doelkens 2009-07-16T04:27:29Z HP:0100361 UMLS:C4023829 human_phenotype owl:Class HP:0032415 biolink:NamedThing Parasagittal parieto-occipital polymicrogyria Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex. hp0009lx5z 2019-02-26 13:20:55+00:00 peter owl:Class HP:0032044 biolink:NamedThing Decreased vigilance A reduction in the ability to maintain sustained attention characterized by reduced alertness. hp0009lx5z 2018-09-16 10:41:34+00:00 peter owl:Class HP:0012792 biolink:NamedThing Absent ossification of thoracic vertebral bodies A lack of bone mineralization of one or more body of thoracic vertebra. hp0009lx5z peter 2014-04-24T11:05:14Z UMLS:C4022721 human_phenotype owl:Class HP:0004599 biolink:NamedThing Absent or minimally ossified vertebral bodies hp0009lx5z UMLS:C1832983 human_phenotype owl:Class HP:0040086 biolink:NamedThing Abnormal prolactin level hp0009lx5z Abnormal prolactin level HPO:skoehler UMLS:C4022448 owl:Class HP:0032907 biolink:NamedThing Focal undressing automatism seizure A type of focal automatism seizure characterized by involuntary undressing at onset. hp0009lx5z peter owl:Class HP:0032898 biolink:NamedThing Focal automatism seizure A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity. hp0009lx5z An automatism is a coordinated, repetitive motor activity, often resembling a voluntary movement, but undertaken without volition. peter owl:Class HP:0100390 biolink:NamedThing Short distal phalanx of the 4th toe Developmental hypoplasia of the distal phalanx of fourth toe. hp0009lx5z Hypoplastic/small distal phalanx of the 4th toe|Short outermost bone of the 4th toe|Short distal phalanx of the fourth toe UMLS:C4021007 human_phenotype owl:Class HP:0031504 biolink:NamedThing Foamy urine Urine has an increased amount of frothy fine bubbles. hp0009lx5z Frothy urine 2017-09-18 01:16:55+00:00 peter owl:Class HP:0033072 biolink:NamedThing Abnormal macroscopic urine appearance Anomalous physical appearance (color, cloudiness, clarity) or odor of urine. hp0009lx5z peter owl:Class HP:0031308 biolink:NamedThing Vertebral artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery. hp0009lx5z 2017-08-26 21:33:38+00:00 peter owl:Class HP:0031306 biolink:NamedThing Intracranial arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial). hp0009lx5z 2017-08-26 21:30:38+00:00 peter owl:Class HP:0031565 biolink:NamedThing Abdominal situs ambiguus An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. hp0009lx5z 2017-09-29 22:56:16+00:00 peter Fyler:3817 owl:Class HP:0011620 biolink:NamedThing Abnormality of abdominal situs An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs. hp0009lx5z peter 2012-04-08T09:30:05Z UMLS:C4023266 owl:Class HP:0002010 biolink:NamedThing Narrow maxilla hp0009lx5z Decreased breadth of upper jaw bones|Decreased transverse dimension of maxilla|Decreased width of upper jaw bones|Transverse maxillary deficiency|Transverse hypoplasia of maxilla|Decreased width of maxilla|Narrow upper jaw bones|Transverse maxillary insufficiency UMLS:C1851835 human_phenotype owl:Class HP:0002312 biolink:NamedThing Clumsiness Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. hp0009lx5z Clumsiness SNOMEDCT_US:7006003|UMLS:C0233844 human_phenotype owl:Class HP:0002311 biolink:NamedThing Incoordination hp0009lx5z Incoordination|Incoordination of limb movements|Limb incoordination|Difficulties in coordination HP:0002276 MSH:D001259|SNOMEDCT_US:302289002|UMLS:C0520966|SNOMEDCT_US:281016006 human_phenotype owl:Class HP:0005616 biolink:NamedThing Accelerated skeletal maturation An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. hp0009lx5z Early bone maturation|Advanced bone age HP:0002649|HP:0005854 UMLS:C0545053|SNOMEDCT_US:123982003 human_phenotype owl:Class HP:0000927 biolink:NamedThing Abnormality of skeletal maturation The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. hp0009lx5z Abnormality of skeletal maturation UMLS:C4025818 human_phenotype owl:Class HP:0410196 biolink:NamedThing Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp0009lx5z Abnormal UDP-glucose 4-epimerase level in red blood cells|Abnormal UDP-glucose 4-epimerase level in RBCs 2018-05-21 18:24:02+00:00 owl:Class HP:0410192 biolink:NamedThing Abnormal uridine diphosphate glucose-4-epimerase level An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. hp0009lx5z Abnormal UDP-glucose 4-epimerase level 2018-05-21 18:22:02+00:00 owl:Class HP:0008675 biolink:NamedThing Enlarged polycystic ovaries hp0009lx5z Enlarged ovaries with cysts UMLS:C4024641 human_phenotype owl:Class HP:0000147 biolink:NamedThing Polycystic ovaries hp0009lx5z Sclerocystic ovaries|Polycystic ovary|Polycystic ovary disease HP:0008657|HP:0008644 UMLS:C1136382|SNOMEDCT_US:69878008|UMLS:C0032460|MSH:D011085 human_phenotype owl:Class HP:0033018 biolink:NamedThing Chronic absent circulating IgD A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured. hp0009lx5z Chronic (near) absent IgM in blood peter owl:Class HP:0410245 biolink:NamedThing Decreased circulating IgD An abnormally decreased level of immunoglobulin D (IgD) in blood. hp0009lx5z Decreased IgD|IgD deficiency|Decreased IgD in blood 2018-10-12 20:43:37+00:00 owl:Class HP:0010469 biolink:NamedThing Absent testis Testis not palpable in the scrotum or inguinal canal. hp0009lx5z Aplasia of the testes|Absent testes|Absence of palpable testicules Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies. peter 2009-09-15T09:29:16Z UMLS:C4023816 human_phenotype owl:Class HP:0000493 biolink:NamedThing Abnormal foveal morphology An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. hp0009lx5z Abnormality of the fovea peter 2008-04-02T01:29:00Z UMLS:C4025849 human_phenotype owl:Class HP:0030676 biolink:NamedThing Satyr ear Sharp pointed superior portion of the ear, with variable overfolding of the helix. hp0009lx5z Devil ear The satyr ear appears to have an abnormally small upper-lateral portion. More extensive underdevelopment continuing down to and including the lobe produces a more extreme anomaly that, unfortunately, has been called Devil ear. HPO:skoehler UMLS:C4048833 owl:Class HP:0007545 biolink:NamedThing Congenital palmoplantar hyperkeratosis Abnormal thickening of the skin on the palms and soles that is present at birth. hp0009lx5z Congenital palmoplantar keratoderma|Congenital palmoplantar keratosis|Congenital palmoplantar keratodermia HP:0007597 UMLS:C1855633 owl:Class HP:0500201 biolink:NamedThing Decreased CSF glutamate concentration Abnormally decreased levels of glutamic acid in cerebrospinal fluid. hp0009lx5z Low glutamic acid levels in cerebrospinal fluid 2019-02-25 16:57:30+00:00 owl:Class HP:0005340 biolink:NamedThing Spastic/hyperactive bladder hp0009lx5z UMLS:C1836904 human_phenotype owl:Class HP:0005689 biolink:NamedThing Dermatoglyphic ridges abnormal hp0009lx5z UMLS:C4025152 human_phenotype owl:Class HP:0009194 biolink:NamedThing Small epiphyses of the metacarpals Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms. hp0009lx5z Small end part of the long bone of hand doelkens 2008-12-30T02:03:34Z UMLS:C4024543 human_phenotype owl:Class HP:0009572 biolink:NamedThing Osteolytic defects of the middle phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger. hp0009lx5z Lytic defects of middle index finger phalanx doelkens 2009-01-28T05:10:24Z HP:0004134 UMLS:C4021437 human_phenotype owl:Class HP:0006176 biolink:NamedThing Two carpal ossification centers present at birth hp0009lx5z Two carpal ossification centres present at birth UMLS:C1839285 human_phenotype owl:Class HP:0100498 biolink:NamedThing Deviation of toes hp0009lx5z doelkens 2010-12-17T04:25:31Z UMLS:C4022039 human_phenotype owl:Class HP:0002751 biolink:NamedThing Kyphoscoliosis An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. hp0009lx5z HP:0003424|HP:0004593|HP:0003412|HP:0005728 SNOMEDCT_US:405773007|UMLS:C0575158 human_phenotype owl:Class HP:0002650 biolink:NamedThing Scoliosis The presence of an abnormal lateral curvature of the spine. hp0009lx5z HP:0003317|HP:0003415|HP:0003303|HP:0002770 MSH:D013121|SNOMEDCT_US:64217002|SNOMEDCT_US:111266001|UMLS:C0037932|UMLS:C0700208|Fyler:4160 human_phenotype owl:Class HP:0009144 biolink:NamedThing Supernumerary bones of the axial skeleton hp0009lx5z peter 2008-05-02T01:29:00Z UMLS:C4024573 human_phenotype owl:Class HP:0030614 biolink:NamedThing Foveal photoreceptor layer loss on macular OCT hp0009lx5z UMLS:C4073084 owl:Class HP:0030613 biolink:NamedThing Abnormal foveal morphology on macular OCT hp0009lx5z UMLS:C4073083 owl:Class HP:0032237 biolink:NamedThing Increased circulating myelocyte count An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1. hp0009lx5z 2019-01-26 17:25:19+00:00 peter owl:Class HP:0032873 biolink:NamedThing Focal aware sensory seizure with cephalic sensation A seizure characterized by a sensation in the head such as light-headedness or headache. hp0009lx5z peter owl:Class HP:0032754 biolink:NamedThing Focal aware sensory seizure A focal sensory seizure during which awareness is retained throughout the seizure. hp0009lx5z peter owl:Class HP:0500005 biolink:NamedThing Anal pain Pain in and around the anus or rectum (perianal region). hp0009lx5z Rectal pain|Anal pain owl:Class HP:0006643 biolink:NamedThing Fused sternal ossification centers hp0009lx5z Fused sternal ossification centres UMLS:C1859376 human_phenotype owl:Class HP:0009378 biolink:NamedThing Triangular shaped phalanges of the 5th finger Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped pinky finger bones|Triangular shaped little finger bones|Triangular shaped pinkie finger bones doelkens 2009-01-13T12:00:35Z UMLS:C4024409 human_phenotype owl:Class HP:0040127 biolink:NamedThing Abnormal sweat homeostasis An abnormality of the composition of sweat or the levels of its components. hp0009lx5z HPO:skoehler UMLS:C4022423 owl:Class HP:0040021 biolink:NamedThing Radial deviation of the thumb hp0009lx5z HPO:skoehler UMLS:C2168996 owl:Class HP:0011175 biolink:NamedThing Focal motor seizure with version A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. hp0009lx5z Versive seizure|Versive seizures hecht 2011-11-19T10:14:54Z UMLS:C0422846|MSH:D020938|SNOMEDCT_US:246530009 human_phenotype owl:Class HP:0031155 biolink:NamedThing Increased Arden ratio of electrooculogram An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. hp0009lx5z Increased Arden ratio of EOG 2017-06-18 13:19:50+00:00 peter owl:Class HP:0030454 biolink:NamedThing Abnormal electrooculogram The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation. hp0009lx5z Abnormal EOG SNOMEDCT_US:442770004|UMLS:C0159104 owl:Class HP:0000291 biolink:NamedThing Abnormality of facial adipose tissue hp0009lx5z Deformity of facial adipose tissue|Abnormality of facial fat|Malformation of facial adipose tissue UMLS:C4025866 human_phenotype owl:Class HP:0031746 biolink:NamedThing Superior rectus muscle restriction Mechanical limitation of the range of movement of the superior rectus muscle. hp0009lx5z 2018-01-21 14:13:01+00:00 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. peter owl:Class HP:0000048 biolink:NamedThing Bifid scrotum Midline indentation or cleft of the scrotum. hp0009lx5z Cleft of scrotum|Scrotal cleft A testis may or may not be present in each half of the scrotum. SNOMEDCT_US:236780002|UMLS:C0341787 human_phenotype owl:Class HP:0002651 biolink:NamedThing Spondyloepimetaphyseal dysplasia hp0009lx5z UMLS:C0432211|SNOMEDCT_US:254062008 human_phenotype owl:Class HP:0002652 biolink:NamedThing Skeletal dysplasia A general term describing features characterized by abnormal development of bones and connective tissues. hp0009lx5z Abnormal skeletal development The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. HP:0005685 UMLS:C0029422|MSH:D010009|SNOMEDCT_US:240190009|UMLS:C4280567|SNOMEDCT_US:105985007 owl:Class HP:0010102 biolink:NamedThing Aplasia of the distal phalanx of the hallux hp0009lx5z Absent outermost bone of big toe doelkens 2009-05-29T12:41:37Z UMLS:C4024048 human_phenotype owl:Class HP:0010110 biolink:NamedThing Aplasia of the phalanges of the hallux hp0009lx5z Absent bone of big toe doelkens 2009-05-29T12:49:19Z UMLS:C4024046 human_phenotype owl:Class HP:0001095 biolink:NamedThing Hypertensive retinopathy hp0009lx5z MSH:D058437|SNOMEDCT_US:6962006|UMLS:C0152132 human_phenotype owl:Class HP:0008046 biolink:NamedThing Abnormal retinal vascular morphology A structural abnormality of retinal vasculature. hp0009lx5z Abnormality of retina blood vessels|Abnormality of the retinal vasculature peter 2008-04-02T12:09:00Z UMLS:C4024753 human_phenotype owl:Class HP:0009808 biolink:NamedThing Anomaly of the upper limb diaphyses A structural abnormality of a diaphysis of the arm. hp0009lx5z Diaphyseal abnormality of the upper limbs|Abnormality of shaft of long bone of the upper limbs|Abnormality involving the diaphyses of the upper limbs doelkens 2009-02-23T04:55:36Z HP:0003857 UMLS:C4021389 human_phenotype owl:Class HP:0010064 biolink:NamedThing Symphalangism affecting the phalanges of the hallux hp0009lx5z Fused big toe bones|hallucal symphalangism doelkens 2009-05-29T12:10:46Z HP:0004687 UMLS:C1836216 human_phenotype owl:Class HP:0006476 biolink:NamedThing Abnormality of the pancreatic islet cells An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. hp0009lx5z peter 2008-03-28T04:41:00Z HP:0100567 UMLS:C4025043 human_phenotype owl:Class HP:0012093 biolink:NamedThing Abnormality of endocrine pancreas physiology A function abnormality of the endocrine pancreas. hp0009lx5z peter 2012-08-20T09:18:18Z UMLS:C4023047 human_phenotype owl:Class HP:0011705 biolink:NamedThing First degree atrioventricular block Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. hp0009lx5z The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children. peter 2012-04-11T07:17:18Z UMLS:C0085614|SNOMEDCT_US:270492004 human_phenotype owl:Class HP:0001678 biolink:NamedThing Atrioventricular block Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. hp0009lx5z Atrioventricular nodal disease|Interruption of electrical communication between upper and lower chambers of heart HP:0006672|HP:0005142|HP:0001668 MSH:D054537|SNOMEDCT_US:233917008|UMLS:C0004245|UMLS:C1841659 human_phenotype owl:Class HP:0009336 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 3rd finger An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the outermost bone of the middle finger doelkens 2009-01-12T11:18:33Z UMLS:C4024431 human_phenotype owl:Class HP:0005886 biolink:NamedThing Aphalangy of the hands Absence of a digit or of one or more phalanges of a finger. hp0009lx5z UMLS:C4025114 human_phenotype owl:Class HP:0031865 biolink:NamedThing Abnormal liver physiology Any functional anomaly of the liver. hp0009lx5z Abnormal hepatic physiology 2018-05-05 21:20:15+00:00 peter owl:Class HP:0001392 biolink:NamedThing Abnormality of the liver An abnormality of the liver. hp0009lx5z Abnormal liver|Liver abnormality|Liver disease|Abnormality of the liver UMLS:C0023895|MSH:D008107|SNOMEDCT_US:235856003|UMLS:C4021780 human_phenotype owl:Class HP:4000024 biolink:NamedThing Anti-laminin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane. hp0009lx5z 2021-05-02 14:38:29+00:00 robinp owl:Class HP:0033073 biolink:NamedThing Urate tophus Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi. hp0009lx5z Urate tophi peter owl:Class HP:0009223 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger. hp0009lx5z Speckled calcifications in end part of the middle bone of the ring finger doelkens 2009-01-05T05:23:59Z UMLS:C4024518 human_phenotype owl:Class HP:0031536 biolink:NamedThing Separate origin of the left anterior descending and left circumflex artery Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA). hp0009lx5z 2017-09-24 01:16:29+00:00 peter owl:Class HP:0011636 biolink:NamedThing Abnormal coronary artery origin Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries. hp0009lx5z peter 2012-04-09T08:32:24Z UMLS:C4023253 human_phenotype owl:Class HP:0011351 biolink:NamedThing Moderate receptive language delay A moderate delay in the acquisition of the ability to understand the speech of others. hp0009lx5z peter 2012-03-01T10:53:13Z UMLS:C3532946|SNOMEDCT_US:89381000119107 owl:Class HP:0010863 biolink:NamedThing Receptive language delay A delay in the acquisition of the ability to understand the speech of others. hp0009lx5z peter 2010-08-03T06:02:52Z SNOMEDCT_US:229736005|UMLS:C0454642 owl:Class HP:0430005 biolink:NamedThing Abnormality of ethmoid bone An abnormality of the ethmoid bone hp0009lx5z Anomaly of the ethmoid bone|Deformity of the ethmoid bone|Malformation of the ethmoid bone UMLS:C4021869 owl:Class HP:0032792 biolink:NamedThing Tonic seizure A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. hp0009lx5z This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding tonic seizures when the onset is not known. The tonic contraction of muscles can result in a tremor, not to be confused with a clonic phase. This term does not apply to seizures with a tonic phase followed a clonic phase, see bilateral tonic-clonic seizure. peter owl:Class HP:0031706 biolink:NamedThing Compensatory chin depression A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement. hp0009lx5z 2017-12-18 00:26:27+00:00 peter owl:Class HP:0031705 biolink:NamedThing Compensatory head posture A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem. hp0009lx5z 2017-12-18 00:24:15+00:00 An abnormal position of the head can be due to an ocular or a non-ocular problem. We reserve this term for abnormal head positions that are compensatory for an ocular problem. peter owl:Class HP:0031595 biolink:NamedThing Abnormal P wave Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria. hp0009lx5z 2017-10-15 13:31:59+00:00 P waves are normally upright in leads I and II and inverted in aVR. peter owl:Class HP:0000372 biolink:NamedThing Abnormality of the auditory canal An abnormality of the External acoustic tube (also known as the auditory canal). hp0009lx5z Auditory canal abnormality UMLS:C4021807 human_phenotype owl:Class HP:0012387 biolink:NamedThing Bronchitis Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. hp0009lx5z peter 2013-11-07T07:24:16Z MSH:D001991|UMLS:C0006277|SNOMEDCT_US:32398004 human_phenotype owl:Class HP:0004261 biolink:NamedThing Wide hamate bone hp0009lx5z Broad hamate bone|Wide unciform bone UMLS:C4021667 human_phenotype owl:Class HP:0004242 biolink:NamedThing Broad carpal bones hp0009lx5z Wide wrist bones|Wide carpal bones UMLS:C3554618 human_phenotype owl:Class HP:0031748 biolink:NamedThing Abnormal vertical rectus muscle physiology A functional anomaly of the superior or inferior rectus muscle. hp0009lx5z 2018-01-21 14:18:23+00:00 peter owl:Class HP:0002636 biolink:NamedThing Dilatation of an abdominal artery Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta. hp0009lx5z Aneurysm of an abdominal artery Aneurysm is considered a severe form of dilatation. UMLS:C4025694 human_phenotype owl:Class HP:0030409 biolink:NamedThing Renal transitional cell carcinoma A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. hp0009lx5z Transitional renal cell carcinoma|Renal urothelial carcinoma|renal TCC UMLS:C1319314|SNOMEDCT_US:408642003 owl:Class HP:0009726 biolink:NamedThing Renal neoplasm The presence of a neoplasm of the kidney. hp0009lx5z Renal tumors|Renal neoplasia|Kidney cancer|Renal tumours|Neoplasia of the kidneys peter 2009-01-31T10:41:48Z HP:0005933 NCIT:C3262|SNOMEDCT_US:126880001|UMLS:C0022665|MSH:D007680|UMLS:C1378703 human_phenotype owl:Class HP:0011757 biolink:NamedThing Posterior pituitary hypoplasia Underdevelopment of the neurohypophysis. hp0009lx5z Neurohypophysis hypoplasia peter 2012-04-22T01:56:23Z UMLS:C4023202 human_phenotype owl:Class HP:0011753 biolink:NamedThing Posterior pituitary dysgenesis Abnormal development of the neurohypophysis during embryonic growth and development. hp0009lx5z Posterior pituitary dysplasia|Neurohypophysis dysplasia peter 2012-04-22T01:42:04Z UMLS:C4021123 human_phenotype owl:Class HP:0032807 biolink:NamedThing Neonatal seizure A seizure occurring within the neonatal period (28 days beyond the full term date). hp0009lx5z This term encompasses clinical only (motor or non-motor without electrographic confirmation), electro-clinical and electrographic only seizures. Where the seizure also meets the definition of status epilepticus it should be coded twice. peter owl:Class HP:0100517 biolink:NamedThing Neoplasm of the urethra The presence of a neoplasm of the urethra. hp0009lx5z Neoplasia of the urethra doelkens 2010-12-20T10:36:17Z SNOMEDCT_US:126883004|UMLS:C0041971|NCIT:C2974|MSH:D014523 human_phenotype owl:Class HP:0030663 biolink:NamedThing Optically empty vitreous Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. hp0009lx5z ORCID:0000-0003-0986-4123 UMLS:C4073118 owl:Class HP:0004589 biolink:NamedThing Dysplasia of second lumbar vertebra hp0009lx5z UMLS:C4025310 human_phenotype owl:Class HP:0011946 biolink:NamedThing Bronchiolitis obliterans Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways. hp0009lx5z Constrictive bronchiolitis|Obliterative bronchiolitis Note that Bronchiolitis obliterans is not to be confused with the similarly named feature Bronchiolitis obliterans organizing pneumonia. peter 2012-06-21T08:20:58Z SNOMEDCT_US:40100001|UMLS:C0006272|MSH:D001989|UMLS:C2350875 human_phenotype owl:Class HP:0007381 biolink:NamedThing Congenital exfoliative erythroderma hp0009lx5z UMLS:C4024892 human_phenotype owl:Class HP:0001019 biolink:NamedThing Erythroderma An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. hp0009lx5z Generalised erythrodermia|Generalized erythroderma|Generalised erythroderma|Red scaly skin caused by inflammatory skin disease|Exfoliative dermititis|Generalized erythrodermia SNOMEDCT_US:399992009|MSH:D003873|SNOMEDCT_US:400005007|SNOMEDCT_US:396350005|SNOMEDCT_US:396349005|UMLS:C0011606|SNOMEDCT_US:200948000 human_phenotype owl:Class HP:0500182 biolink:NamedThing Hypotaurinemia A decreased amount of taurine in the blood. hp0009lx5z Reduced taurine levels in the blood|Decreased circulating taurine levels|Lower blood levels of taurine 2019-02-22 17:29:23+00:00 owl:Class HP:0500180 biolink:NamedThing Abnormal circulating amino sulfonic acid concentration hp0009lx5z 2019-02-22 17:26:10+00:00 owl:Class HP:0000016 biolink:NamedThing Urinary retention Inability to completely empty the urinary bladder during the process of urination. hp0009lx5z Increased post-void residual urine volume Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. SNOMEDCT_US:267064002|UMLS:C0080274|MSH:D016055|SNOMEDCT_US:449491000124101|SNOMEDCT_US:130951007 human_phenotype owl:Class HP:0500161 biolink:NamedThing Increased level of carnosine in blood An increased amount of carnosine in the blood. hp0009lx5z Increased blood carnosine concenrtation|High blood carnosine levels 2018-10-05 16:07:32+00:00 owl:Class HP:0500160 biolink:NamedThing Abnormal circulating carnosine concentration Any deviation from the normal concentration of carnosine in the blood circulation. hp0009lx5z Abnormality of carnosine metabolism 2018-10-05 15:52:07+00:00 Carnosine is a neuroprotective dipeptide consisting of beta-alanine and L-histidine. owl:Class HP:0009597 biolink:NamedThing Short proximal phalanx of the 2nd finger Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger. hp0009lx5z Short proximal phalanx of the second finger|Hypoplastic/small proximal phalanx of the 2nd finger|Short proximal index finger phalanx doelkens 2009-01-29T10:19:36Z HP:0004124 UMLS:C4021430 human_phenotype owl:Class HP:0006855 biolink:NamedThing Cerebellar vermis atrophy Wasting (atrophy) of the vermis of cerebellum. hp0009lx5z Atrophy of the cerebellar vermis|Atrophy of cerebellar vermis This sign can be visualized with brain MRI. HP:0007312|HP:0007121 UMLS:C0742028 owl:Class HP:0002334 biolink:NamedThing Abnormal cerebellar vermis morphology An anomaly of the vermis of cerebellum. hp0009lx5z Abnormality of the cerebellar vermis The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres. UMLS:C4025712 owl:Class HP:0040327 biolink:NamedThing Abnormal morphology of the olfactory bulb An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell. hp0009lx5z owl:Class HP:0010683 biolink:NamedThing Low tissue non-specific alkaline phosphatase An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. hp0009lx5z Low tissue non-specific ALP doelkens 2010-03-05T11:12:08Z UMLS:C4023742 human_phenotype owl:Class HP:0033434 biolink:NamedThing Nasal septum perforation A full-thickness defect of the nasal septum. hp0009lx5z Perforation of the nasal septum|Nasal-septum perforation 2021-01-09 18:14:19+00:00 peter owl:Class HP:0000419 biolink:NamedThing Abnormality of the nasal septum An abnormality of the nasal septum. hp0009lx5z Anomaly of septum of nose|Anomaly of nasal septum|Abnormality of the nasal septum|Abnormality of septum of nose SNOMEDCT_US:95433000|UMLS:C0151790 human_phenotype owl:Class HP:0100776 biolink:NamedThing Recurrent pharyngitis An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis. hp0009lx5z Recurrent sore throat|Pharyngitis, recurrent doelkens 2011-06-07T05:28:27Z UMLS:C0747556 human_phenotype owl:Class HP:0032021 biolink:NamedThing Eosinophilic liver infiltration Cellular infiltration of the liver parenchyma with a preponderance of eosinophils. hp0009lx5z Eosinophilic hepatitis 2018-08-25 15:51:03+00:00 peter owl:Class HP:0009965 biolink:NamedThing Complete duplication of the distal phalanx of the 3rd finger Complete duplication of the distal phalanx of middle finger hp0009lx5z Complete duplication of the outermost bone of the 3rd finger doelkens 2009-05-26T12:49:35Z UMLS:C4024141 human_phenotype owl:Class HP:0010655 biolink:NamedThing Epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. hp0009lx5z Stippling of the epiphyses|Speckled calcifications in end part of bone|Epiphyseal punctate calcifications|Stippled epiphyses Stippling resolves with maturation of the epiphysis but is often replaced by some permament epiphyseal abnormality. doelkens 2010-02-25T09:41:24Z HP:0002658|HP:0010586 UMLS:C1859126|SNOMEDCT_US:360507004 human_phenotype owl:Class HP:0032019 biolink:NamedThing Muscle eosinophilia Eosinophil infiltration of skeletal muscle. hp0009lx5z Eosinophilic infiltration of skeletal muscle 2018-08-25 15:42:46+00:00 This phenotype can be measured by determining the number and location of eosinophils in skeletal muscle biopsies by Giemsa and modified hematoxylin/eosin staining. However, infiltrating eosinophils are not always identified in conventional muscle histologic examination, but the eosinophil major basic protein, whose extracellular diffusion is considered a hallmark of eosinophilic cytotoxicity, is usually detected by immunostaining in muscle biopsy. peter owl:Class HP:0500059 biolink:NamedThing Retinopathy of prematurity zone I Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. hp0009lx5z ROP zone 1 2018-02-19 19:24:42+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0004281 biolink:NamedThing Irregular sclerosis of hand bones hp0009lx5z UMLS:C4025373 human_phenotype owl:Class HP:0004054 biolink:NamedThing Sclerosis of hand bone Osteosclerosis affecting one or more bones of the hand. hp0009lx5z Increased bone density in hand bone|Increased bone density in hand bones|Generalized sclerosis of hand bones|Generalised sclerosis of hand bones|Hand bone sclerosis HP:0004055 UMLS:C4021684 human_phenotype owl:Class HP:0011522 biolink:NamedThing Protanopia Blue and green cones only; no functional red cones. hp0009lx5z Red-blind peter 2012-04-06T07:45:06Z SNOMEDCT_US:51445007|MSH:D003117|UMLS:C0155015 human_phenotype owl:Class HP:0011518 biolink:NamedThing Dichromacy Individuals affected by dichromacy possess only two types of cones, instead of three. hp0009lx5z The three types of dichromacy (protanopia, deuteranopia, and tritanopia) are named according the cone photopigment that is missing. peter 2012-04-06T06:46:27Z UMLS:C4023317 human_phenotype owl:Class HP:0200043 biolink:NamedThing Verrucae Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. hp0009lx5z Warts Cause is a virus called HPV (human papilloma virus), which infects the skin and causes the abnormal growth. There are many different varieties of the virus, which usually depends on the location of the lesion. sebastiankohler 2010-06-18T11:35:25Z MSH:D014860|SNOMEDCT_US:57019003|UMLS:C3665596|SNOMEDCT_US:30285000 human_phenotype owl:Class HP:0012740 biolink:NamedThing Papilloma A tumor of the skin or mucous membrane with finger-like projections. hp0009lx5z The vast majority of papillomas are benign. Papillomas on the skin (cutaneous papillomas) are commonly referred to as warts. peter 2014-03-23T04:36:41Z SNOMEDCT_US:711329002|MSH:D010212|SNOMEDCT_US:23730008|UMLS:C0030354 human_phenotype owl:Class HP:0033334 biolink:NamedThing Abnormal embryonic development An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm. hp0009lx5z 2020-11-29 17:48:10+00:00 peter owl:Class HP:0040043 biolink:NamedThing Hypoplasia of the eccrine sweat glands hp0009lx5z Underdeveloped major sweat glands HPO:skoehler UMLS:C4022474 owl:Class HP:0020185 biolink:NamedThing Superior cerebellar dysplasia Abnormal morphological development of the superior part of the cerebellum. hp0009lx5z robinp 2019-09-03 12:21:50+00:00 owl:Class HP:0025106 biolink:NamedThing Nevus roseus A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. hp0009lx5z 2016-10-28 23:53:08+00:00 HPO:probinson owl:Class HP:0030561 biolink:NamedThing Best corrected visual acuity 0.8 LogMAR hp0009lx5z UMLS:C4073034 owl:Class HP:0005844 biolink:NamedThing Rounded middle phalanx of finger An abnormally round shape of the middle phalanx of the finger. hp0009lx5z Rounded middle bone of finger UMLS:C4025126 human_phenotype owl:Class HP:0000237 biolink:NamedThing Small anterior fontanelle Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. hp0009lx5z Small anterior fontanel|Small forehead fontanel UMLS:C1859455 human_phenotype owl:Class HP:0006453 biolink:NamedThing Lateral displacement of the femoral head A developmental anomaly with lateral displacement of the femoral head. hp0009lx5z Laterally displaced femoral heads UMLS:C1855758 human_phenotype owl:Class HP:0000054 biolink:NamedThing Micropenis Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. hp0009lx5z Small penis|Short penis HP:0000038 UMLS:C4551492|SNOMEDCT_US:34911001 owl:Class HP:0008736 biolink:NamedThing Hypoplasia of penis hp0009lx5z Underdeveloped penis HP:0008632 SNOMEDCT_US:34911001|UMLS:C0266435 owl:Class HP:0004840 biolink:NamedThing Hypochromic microcytic anemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. hp0009lx5z Hypochromic, microcytic anaemia|Hypochromic, microcytic anemia|Hypochromic microcytic anaemia HP:0004842 UMLS:C0271901|MSH:C536357|SNOMEDCT_US:44666001 human_phenotype owl:Class HP:0001935 biolink:NamedThing Microcytic anemia A kind of anemia in which the volume of the red blood cells is reduced. hp0009lx5z Microcytic anaemia In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). SNOMEDCT_US:234349007|UMLS:C0085576|MSH:C562385 human_phenotype owl:Class HP:0031224 biolink:NamedThing Diffuse pancreatic islet hyperplasia Hyperplasia of the islets of Langerhans with a generalized distribution. hp0009lx5z 2017-07-02 12:06:09+00:00 peter owl:Class HP:0004510 biolink:NamedThing Pancreatic islet-cell hyperplasia Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. hp0009lx5z Hyperplastic islets of langerhans|Hypertrophic pancreatic islets|Islet of Langerhans hyperplasia|Islets of langerhans hypertrophy|Pancreatic islet-cell hypertrophy The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin). HP:0006275|HP:0001736 UMLS:C0597167 owl:Class HP:0004396 biolink:NamedThing Poor appetite A reduced desire to eat. hp0009lx5z Loss of appetite|Poor appetite|No appetite|Decreased appetite peter 2008-03-18T09:12:00Z SNOMEDCT_US:64379006|UMLS:C0232462 owl:Class HP:0011458 biolink:NamedThing Abdominal symptom A subjective manifestation of disease localized to the abdomen. hp0009lx5z peter 2012-03-25T05:35:45Z UMLS:C0740651 owl:Class HP:0011849 biolink:NamedThing Abnormal bone ossification Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. hp0009lx5z Abnormal bone maturation All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification. peter 2012-05-15T07:39:58Z UMLS:C4280317|MP:0008271|UMLS:C4023161 human_phenotype owl:Class HP:0100451 biolink:NamedThing Curved distal phalanx of the 5th toe A deviation from the normal straight form of the distal phalanx of the fifth toe. hp0009lx5z Curved outermost bone of the pinkie toe|Curved outermost bone of the pinky toe|Curved outermost bone of the little toe UMLS:C4022076 human_phenotype owl:Class HP:0008754 biolink:NamedThing Laryngeal calcification Calcification (abnormal deposits of calcium) in the laryngeal tissues. hp0009lx5z Laryngeal calcifications HP:0008748 UMLS:C1859158 human_phenotype owl:Class HP:0030419 biolink:NamedThing Bartholin gland carcinoma A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina. hp0009lx5z Carcinomas of Bartholin's gland are rare tumors that account for less than 1% of all gynecological malignancies. Two major histological types, squamous cell carcinoma and adenocarcinoma, account for 80% to 90% of primary cases. The remainder are adenoid-cystic, transitional, or undifferentiated carcinomas. UMLS:C0349561|SNOMEDCT_US:399533005|SNOMEDCT_US:276876007 owl:Class HP:0012604 biolink:NamedThing Hyponatriuria An abnormally decreased sodium concentration in the urine. hp0009lx5z Low urine sodium levels peter 2014-01-16T06:22:09Z UMLS:C4022824 human_phenotype owl:Class HP:0004909 biolink:NamedThing Hypokalemic hypochloremic metabolic alkalosis hp0009lx5z UMLS:C0740896 human_phenotype owl:Class HP:0001960 biolink:NamedThing Hypokalemic metabolic alkalosis hp0009lx5z UMLS:C0740898 human_phenotype owl:Class HP:0003301 biolink:NamedThing Irregular vertebral endplates An irregular surface of the vertebral end plates, which are normally relatively smooth. hp0009lx5z endplate irregularities|vertebral endplate irregularity|endplate irregularity|Irregular end plates|Irregular endplates|irregular vertebral plates|end-plate irregularities HP:0003420|HP:0004628|HP:0004583 UMLS:C1842153 human_phenotype owl:Class HP:0032016 biolink:NamedThing Abnormal sputum Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. hp0009lx5z Abnormal sputum morphology 2018-08-25 12:36:36+00:00 peter owl:Class HP:0011149 biolink:NamedThing Absence seizure with eyelid myoclonia An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. hp0009lx5z Absence seizures with eyelid myoclonia This type of seizure was classified as a type of generalized non-motor seizure by the ILAE in 2017 because the absence predominates over the eyelid myoclonia. However, eyelid myoclonia can occur as a generalized-onset seizure without any absence, in which they may be better considered a motor seizure: see Eyelid myoclonia seizure. peter 2011-10-18T02:03:21Z UMLS:C4023513 human_phenotype owl:Class HP:0012701 biolink:NamedThing Bowel urgency A sudden, irresistible need to have a bowel movement. hp0009lx5z Faecal urgency|Fecal urgency peter 2014-03-22T06:22:14Z UMLS:C0426636|SNOMEDCT_US:71820002 human_phenotype owl:Class HP:0033122 biolink:NamedThing Absent P wave The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present. hp0009lx5z Absence of P wave on electrocardiography 2020-09-05 12:45:02+00:00 Absent P wave can be observed with conditions including atrial fibrillation and sinoatrial arrest, peter owl:Class HP:0006332 biolink:NamedThing Supernumerary maxillary incisor The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. hp0009lx5z Extra upper front tooth UMLS:C4025062 human_phenotype owl:Class HP:0020211 biolink:NamedThing Proprioceptive-induced seizure A seizure precipitated by movement or a change in posture. hp0009lx5z robinp 2020-02-24 13:46:03+00:00 owl:Class HP:0009940 biolink:NamedThing Asymmetry of the mandible Lack of symmetry between the left and right mandible. hp0009lx5z Canted mandible|Deviation of lower jaw|Asymmetry of lower jaw|Uneven lower jaw|Tilted lower jaw|Deviation of mandible|Lower jaw shifted to one side|Canted lower jaw|Uneven mandible|Tilted mandible|Deviation of the lower jaw|Deviation of the mandible|Crooked lower jaw peter 2009-05-10T11:28:02Z UMLS:C4082201|UMLS:C0399518|SNOMEDCT_US:235082006 human_phenotype owl:Class HP:0000113 biolink:NamedThing Polycystic kidney dysplasia The presence of multiple cysts in both kidneys. hp0009lx5z Polycystic kidney disease|Polycystic kidneys|Enlarged polycystic kidneys Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. HP:0004740|HP:0008699|HP:0008673|HP:0004716|HP:0004739|HP:0008645 UMLS:C1567435|MSH:D007690|UMLS:C0022680|SNOMEDCT_US:82525005|Fyler:4508 human_phenotype owl:Class HP:0030777 biolink:NamedThing Modic type II vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow. hp0009lx5z Modic type 2 vertebral endplate changes UMLS:C4280776 owl:Class HP:0100135 biolink:NamedThing Absent epiphysis of the distal phalanx of the 3rd toe hp0009lx5z Absent end part of the outermost bone of the 3rd toe doelkens 2010-06-24T10:23:44Z UMLS:C4022286 human_phenotype owl:Class HP:0500259 biolink:NamedThing Abnormal oxygen level in cord blood An abnormal level of blood oxygen in the cord blood. hp0009lx5z Abnormal oxygen amount in umbilical cord blood|Abnormal O2 level in cord blood|Abnormal cord blood oxygen levels 2019-04-23 17:11:51+00:00 owl:Class HP:0009333 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 3rd finger hp0009lx5z Abnormality of the end part of the innermost bone of the middle finger doelkens 2009-01-12T11:16:44Z UMLS:C4024434 human_phenotype owl:Class HP:0008450 biolink:NamedThing Narrow vertebral interpedicular distance A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. hp0009lx5z Interpedicular narrowing|Narrow interpedicular space|Narrowing of interpediculate distances|Narrow interpediculate distances HP:0008426|HP:0008448|HP:0008474 UMLS:C1832598 human_phenotype owl:Class HP:0031020 biolink:NamedThing Bone marrow hypercellularity A larger than normal amount or percentage of hematopoietic cells relative to marrow fat. hp0009lx5z 2017-06-14 16:35:25+00:00 robinp owl:Class HP:0012145 biolink:NamedThing Abnormality of multiple cell lineages in the bone marrow hp0009lx5z peter 2012-09-16T08:21:57Z UMLS:C4023024 human_phenotype owl:Class HP:0003829 biolink:NamedThing Incomplete penetrance A situation in which mutation carriers do not show clinically evident phenotypic abnormalities. hp0009lx5z Reduced penetrance This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. HP:0003830 UMLS:C1836598 human_phenotype owl:Class HP:0032566 biolink:NamedThing Oval macrocytosis Enlarged, oval-shaped erythrocytes (red blood cells). hp0009lx5z 2019-06-19 10:24:42+00:00 See Figure 1 of PMID:19202968. peter owl:Class HP:0005308 biolink:NamedThing Pulmonary artery vasoconstriction hp0009lx5z UMLS:C1867424 human_phenotype owl:Class HP:0030967 biolink:NamedThing Abnormal pulmonary artery physiology An abnormality of the function of the pulmonary artery. hp0009lx5z 2017-04-18 13:29:51+00:00 robinp owl:Class HP:0030884 biolink:NamedThing Gastrojejunal tube feeding in infancy Feeding problem necessitating gastrojejunal tube feeding. hp0009lx5z Gastro-jejunal tube feeding in infancy The rationale for gastrojejunal tube feeding is that placing the tip of the tube beyond the ligament of Treitz prevented duodenogastric reflux or gastro-esophageal reflux. Gastrojejunal feeding tubes have since been used in children who are deemed too unfit for antireflux surgery or where fundoplication has failed. UMLS:C4280681 owl:Class HP:0011476 biolink:NamedThing Profound sensorineural hearing impairment Complete loss of hearing related to a sensorineural defect. hp0009lx5z peter 2012-03-31T10:21:17Z UMLS:C4023338 human_phenotype owl:Class HP:0011669 biolink:NamedThing Left superior vena cava draining directly to the left atrium A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt. hp0009lx5z peter 2012-04-09T12:02:06Z UMLS:C4023238 owl:Class HP:0033379 biolink:NamedThing Bilateral superior vena cava The presence of a left and a right superior vena cava. hp0009lx5z Bilateral SVC 2020-12-23 14:20:56+00:00 The thoracic embryonic venous system is composed of two large veins (the superior cardinal veins) which return blood from cranial aspect of embryo, and the inferior cardinal vein, which returns blood from the caudal aspect. Both pairs of veins join to form right and left common cardinal veins before entering the embryological heart. The left common cardinal vein persists to form coronary sinus and oblique vein of left atrium. During the 8th week of gestation, an anastomosis forms between right and left superior cardinal veins resulting in the innominate (or brachiocephalic) vein. The cephalic portion of superior cardinal veins form the internal jugular veins. The caudal portion of right superior vein forms the normal right-sided superior vena cava, while the portion of the left superior cardinal vein caudal to the innominate vein normally regresses to become the ligament of Marshall. If this normal regression of the left superior cardinal vein fails to occur, a persistent left-sided vascular structure that empties into the coronary sinus, results (Persistent left superior vena cava or PLSVC). The innominate vein may or may not degenerate in these cases leading to variations in anatomy. The most common subtype of PLSVC results in the presence of both left and right SVCs (Bilateral SVC). A bridging innominate vein may or may not be present. peter owl:Class HP:0001114 biolink:NamedThing Xanthelasma The presence of xanthomata in the skin of the eyelid. hp0009lx5z Xanthelasma of periocular region|Fatty deposits in skin around the eyes|Xanthoma of periocular region|Fatty deposits on eyelids|Xanthoma|Xanthelasma palpebrarum|Xanthoma of eyelid|Xanthelasma of eyelid UMLS:C0302314|UMLS:C0155210|MSH:D014973|SNOMEDCT_US:75594004|UMLS:C4280602|SNOMEDCT_US:6400008|UMLS:C4280601|SNOMEDCT_US:63103006 human_phenotype owl:Class HP:0006607 biolink:NamedThing Precocious costochondral ossification Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage. hp0009lx5z The costal cartilage typically calcifies with advancing age and is therefore easier to identify on radiographs obtained in older patients. UMLS:C1849049 human_phenotype owl:Class HP:0007778 biolink:NamedThing Posterior retinal neovascularization A type of retinal neovascularization that affects the posterior pole of the retina. hp0009lx5z Neovascularization of peripheral and posterior retina|Posterior retinal neovascularisation UMLS:C4024803 human_phenotype owl:Class HP:0030666 biolink:NamedThing Retinal neovascularization In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment. hp0009lx5z Retinal neovascularisation When traction retinal detachment involves the macula, which is responsible for reading and driving vision, severe visual loss occurs. HPO:probinson UMLS:C0035320|SNOMEDCT_US:61267008|MSH:D015861 owl:Class HP:0031399 biolink:NamedThing Abnormal proportion of double-negative alpha-beta regulatory T cell An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. hp0009lx5z Abnormal DN Treg distribution|Abnormal Double negative Treg distribution|Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution|Abnormal double-negative alpha-beta regulatory T cell distribution 2017-09-03 12:57:22+00:00 T lymphocytes bearing the alpha-beta T cell receptor (TCR) but lacking CD4, CD8, and markers of natural killer (NK) cell differentiation, i.e., TCR(+)CD3(+)CD4(-)CD8(-), are known as double-negative (DN) T cells and are defined by their capability of inhibiting immune responses via directly killing effector T cells in an antigen specific fashion. Furthermore, DN Treg cells have been shown to develop regulatory activity after encountering specific antigens, partially mediated by the acquisition of MHC-peptide complexes from antigen presenting cells (APCs). peter owl:Class HP:0003009 biolink:NamedThing Enhanced neurotoxicity of vincristine hp0009lx5z UMLS:C4025661 human_phenotype owl:Class HP:0030949 biolink:NamedThing Glomerular deposits An abnormal accumulation of protein in the glomerulus. hp0009lx5z 2017-01-13 21:44:36+00:00 robinp owl:Class HP:0011464 biolink:NamedThing Aganglionosis of the small intestine A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine. hp0009lx5z peter 2012-03-25T07:36:49Z UMLS:C4023346 human_phenotype owl:Class HP:0033214 biolink:NamedThing Recurrent viral pneumonia Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias. hp0009lx5z 2020-10-12 12:53:27+00:00 peter owl:Class HP:0100428 biolink:NamedThing Broad proximal phalanx of the 3rd toe hp0009lx5z Wide innermost bone of 3rd toe UMLS:C4022099 human_phenotype owl:Class HP:0033357 biolink:NamedThing Limited head rotation Reduced range of motion turning the head side to side. hp0009lx5z 2020-12-01 12:37:00+00:00 peter owl:Class HP:0005986 biolink:NamedThing Limitation of neck motion hp0009lx5z Limitation of neck motion|Limited neck mobility|Restricted neck movement UMLS:C0151315|UMLS:C1847392|UMLS:C1320474|MSH:D009127|SNOMEDCT_US:405947006|SNOMEDCT_US:161882006 owl:Class HP:0012584 biolink:NamedThing Bilateral renal hypoplasia Two sided hypoplasia of the kidney. hp0009lx5z peter 2014-01-16T03:16:03Z SNOMEDCT_US:268232000|UMLS:C0431692 human_phenotype owl:Class HP:0000089 biolink:NamedThing Renal hypoplasia Hypoplasia of the kidney. hp0009lx5z Small kidneys|Underdeveloped kidneys|Hypoplastic kidneys|Hypoplastic kidney Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. HP:0001968|HP:0004741|HP:0008641 UMLS:C0266295|SNOMEDCT_US:32659003 human_phenotype owl:Class HP:0032751 biolink:NamedThing Focal impaired awareness emotional seizure with crying Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0100345 biolink:NamedThing Tibial deviation of the 2nd toe hp0009lx5z doelkens 2010-11-11T03:44:07Z UMLS:C4022135 human_phenotype owl:Class HP:0010326 biolink:NamedThing Deviation of the 2nd toe hp0009lx5z Displacement of the 2nd toe doelkens 2009-07-16T11:40:18Z UMLS:C4021297 human_phenotype owl:Class HP:0410208 biolink:NamedThing Positive plasma/serum cotinine test Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum. hp0009lx5z 2018-09-11 23:57:25+00:00 Cotinine is used as a biomarker for exposure to tobacco smoke. owl:Class HP:0500100 biolink:NamedThing Plasma/serum xenobiotic Presence of a xenobiotic in plasma and/or serum. hp0009lx5z 2018-05-21 13:45:51+00:00 owl:Class HP:0033314 biolink:NamedThing Visceral epithelial cell hyperplasia Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. hp0009lx5z Podocyte hyperplasia|Hyperplasia of visceral epithelial cells 2020-11-29 13:17:07+00:00 peter owl:Class HP:0031265 biolink:NamedThing Abnormal glomerular visceral epithelial cell morphology Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary. hp0009lx5z Abnormal visceral epithelial cell morphology|Abnormal podocyte morphology 2017-08-12 18:36:29+00:00 Podocytes (or visceral epithelial cells) are terminally differentiated cells lining the outer surface of the glomerular capillaries. As a major component of the ultrafiltration apparatus, podocytes have a complex cellular architecture consisting of cell body, major processes that extend outward from their cell body, forming interdigitated foot processes that enwrap the glomerular capillaries. peter owl:Class HP:0002205 biolink:NamedThing Recurrent respiratory infections An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. hp0009lx5z Multiple respiratory infections|Susceptibility to respiratory infections|respiratory infections, recurrent|Frequent respiratory infections|Recurrent respiratory infections HP:0002873|HP:0002782 UMLS:C3806482 human_phenotype owl:Class HP:0006423 biolink:NamedThing Peg-like central prominence of distal tibial metaphyses hp0009lx5z UMLS:C1846160 human_phenotype owl:Class HP:0012579 biolink:NamedThing Minimal change glomerulonephritis The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. hp0009lx5z Minimal change disease|Minimal change nephropathy peter 2014-01-16T01:26:20Z UMLS:C0027721|MSH:D009402|SNOMEDCT_US:44785005 human_phenotype owl:Class HP:0004754 biolink:NamedThing Permanent atrial fibrillation AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. hp0009lx5z Chronic atrial fibrillation The natural history of atrial fibrillation (AF) is characterized by a gradual worsening with time. AF itself produces changes in atrial function and structure. Note there is no precise definition of the duration of AF required to be regarded as chronic. UMLS:C2586056|SNOMEDCT_US:440028005|UMLS:C0694539|SNOMEDCT_US:426749004 human_phenotype owl:Class HP:0005110 biolink:NamedThing Atrial fibrillation An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. hp0009lx5z Quivering upper heart chambers resulting in irregular heartbeat The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately. peter 2008-03-25T06:29:00Z HP:0001715|HP:0005179 MSH:D001281|SNOMEDCT_US:49436004|UMLS:C0004238 human_phenotype owl:Class HP:0008661 biolink:NamedThing Urethral stenosis Abnormal narrowing of the urethra. hp0009lx5z Narrowing of the urethra MSH:D014525|SNOMEDCT_US:236647003|SNOMEDCT_US:76618002|UMLS:C0041974 human_phenotype owl:Class HP:0000796 biolink:NamedThing Urethral obstruction Obstruction of the flow of urine through the urethra. hp0009lx5z SNOMEDCT_US:95588004|MSH:D014524|UMLS:C0041972 human_phenotype owl:Class HP:0012030 biolink:NamedThing Increased urinary cortisol level Abnormally increased concentration of cortisol in the urine. hp0009lx5z High urine cortisol level peter 2012-07-27T01:30:44Z UMLS:C4023068 human_phenotype owl:Class HP:0004237 biolink:NamedThing Large carpal bones Increased size of carpal bones. hp0009lx5z Large wrist bones|Large carpals UMLS:C4021671 human_phenotype owl:Class HP:0006014 biolink:NamedThing Abnormally shaped carpal bones hp0009lx5z Abnormally shaped wrist bones UMLS:C1860111 human_phenotype owl:Class HP:0002792 biolink:NamedThing Reduced vital capacity An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. hp0009lx5z Decreased vital capacity SNOMEDCT_US:274715008|UMLS:C0520831|UMLS:C0476408|SNOMEDCT_US:607007 owl:Class HP:0011499 biolink:NamedThing Mydriasis Abnormal dilatation of the iris. hp0009lx5z Dilated pupil peter 2012-04-03T07:49:21Z SNOMEDCT_US:37125009|UMLS:C0026961|MSH:D015878 human_phenotype owl:Class HP:0031604 biolink:NamedThing Agenesis of the carotid canal A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. hp0009lx5z Bony carotid canal agenesis 2017-10-22 13:26:34+00:00 This abnormally is associated with Internal carotid artery (ICA) agenesis, since the ICA normally enters the skull through the carotid canal. peter owl:Class HP:0009911 biolink:NamedThing Abnormal temporal bone morphology Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. hp0009lx5z Abnormality of the temporal bone peter 2009-05-01T03:33:17Z UMLS:C4024163 human_phenotype owl:Class HP:0010363 biolink:NamedThing Osteolytic defects of the phalanges of the 3rd toe hp0009lx5z doelkens 2009-07-16T11:51:17Z UMLS:C4021825 human_phenotype owl:Class HP:0010885 biolink:NamedThing Avascular necrosis A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. hp0009lx5z Aseptic necrosis|Aseptic bone necrosis|Ischaemic bone necrosis|Ischemic bone necrosis|Osteochondronecrosis|Bone infarction|Osteonecrosis|Death of bone due to decreased blood supply The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases. sdoelken 2010-09-24T10:11:05Z UMLS:C0520474|SNOMEDCT_US:398199007|UMLS:C0029445|UMLS:C0085660|SNOMEDCT_US:240196003|SNOMEDCT_US:72756009|MSH:D010020|UMLS:C0877326 human_phenotype owl:Class HP:0031707 biolink:NamedThing Compensatory face turn to the right A tendency to turn the face to the right to compensate for a limitation of eye movement. hp0009lx5z 2017-12-18 00:27:59+00:00 With a sixth cranial nerve palsy there is a weakened lateral rectus muscule and the affected patient will often turn the head towards the affected eye. peter owl:Class HP:0010858 biolink:NamedThing EEG with hyperventilation-induced epileptiform discharges Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). hp0009lx5z Hyperventilation (overbreathing) is widely used as a diagnostic procedure to activate epileptiform EEG discharges. peter 2010-07-11T08:44:38Z UMLS:C4023682 human_phenotype owl:Class HP:0004438 biolink:NamedThing Hyperostosis frontalis interna Bony overgrowth of the internal (endosteal) surface of the frontal bone. hp0009lx5z Excessive growth of inner surface of the frontal bone|Hyperostosis of the internal surface of the frontal bone|Overgrowth of the inside of the frontal bone|Thick internal surface of the frontal bone|Hypertrophy of the internal surface of the frontal bone|Thick inner surface of the frontal bone|Enlargement of the inner surface of the frontal bone|Overgrowth of the inner surface of the frontal bone|Increased ossification of the internal surface of the frontal bone peter 2008-03-18T09:57:00Z UMLS:C4280524|MSH:D006957|UMLS:C4280527|UMLS:C4280525|SNOMEDCT_US:82054006|UMLS:C4280526|UMLS:C0020494 human_phenotype owl:Class HP:0032644 biolink:NamedThing Renal interstitial deposits Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. hp0009lx5z peter owl:Class HP:0041188 biolink:NamedThing Fractured proximal phalanx of manual digit 1 A partial or complete breakage of the proximal phalanx of manual digit 1. hp0009lx5z bone proximal phalanx of manual digit 1 owl:Class HP:0041239 biolink:NamedThing Fractured manual digit 1 phalanx A partial or complete breakage of the manual digit 1 phalanx. hp0009lx5z bone manual digit 1 phalanx owl:Class HP:0008484 biolink:NamedThing Thoracolumbar interpediculate narrowness A reduction of the distance between thoracolumbar vertebral pedicles. hp0009lx5z Narrow thoracolumbar interpediculate distance UMLS:C1864364 human_phenotype owl:Class HP:0200073 biolink:NamedThing Respiratory insufficiency due to defective ciliary clearance hp0009lx5z sebastiankohler 2013-05-31T04:31:32Z UMLS:C3552099 human_phenotype owl:Class HP:0012261 biolink:NamedThing Abnormal respiratory motile cilium physiology Any functional anomaly of the respiratory motile cilia. hp0009lx5z Abnormal respiratory motile cilium physiology may include alterations in ciliary beating pattern or frequency. peter 2013-04-07T10:05:43Z UMLS:C4022984 human_phenotype owl:Class HP:0010347 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 2nd toe hp0009lx5z Absent/small bones of 2nd toe|Absent/underdeveloped bones of 2nd toe doelkens 2009-07-16T11:45:34Z UMLS:C4023890 human_phenotype owl:Class HP:0020145 biolink:NamedThing Calcium oxalate crystalluria The presence of calcium oxalate crystals in the urine. hp0009lx5z There are two types of calcium oxalate crystals, the dihydrate (or Wedellite) and the monohydrate (orWhewellite), which are frequently found together in the same sample. The former have mostly a typical bipyramidal shape, while the latter are more pleiomorphic, although the ovoid shape is the most frequent. Bipyramidal crystals are birefringent only when large or in aggregates, but even then birefringence is usually not intense. The monohydrates, however, are always strongly birefringent. Calcium oxalate may be found in normal subjects, often as a consequence of ingestion of foods like chocolate, beet-root, peanuts, rhubarb, spinach, etc., in stoneformers, in patients with hyperoxaluria, or after ethylene glycol poisoning. robinp 2019-07-05 19:06:11+00:00 owl:Class HP:0002041 biolink:NamedThing Intractable diarrhea hp0009lx5z Intractable diarrhoea UMLS:C0743178 human_phenotype owl:Class HP:0031568 biolink:NamedThing Thickened aortic valve cusp An abnormally increased thickness of a leaflet of the aortic valve. hp0009lx5z 2017-09-29 23:18:10+00:00 peter Fyler:1486 owl:Class HP:0031567 biolink:NamedThing Abnormal aortic valve cusp morphology Any structural anomaly of the aortic valve leaflets. hp0009lx5z 2017-09-29 23:13:33+00:00 peter Fyler:1480 owl:Class HP:0030141 biolink:NamedThing Abnormality of the posterior hairline An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair. hp0009lx5z Abnormality of hairline at back of head UMLS:C4022607 owl:Class HP:0009553 biolink:NamedThing Abnormality of the hairline The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. hp0009lx5z Abnormality of the hairline peter 2009-01-21T05:19:14Z UMLS:C4024297 owl:Class HP:0010993 biolink:NamedThing Abnormality of the cerebral subcortex An abnormality of the cerebral subcortex. hp0009lx5z Abnormality of the cerebral medulla The cerebral subcortex contains the basal ganglia and the cerebral white matter. peter 2011-02-09T10:32:54Z UMLS:C4021207 human_phenotype owl:Class HP:0012016 biolink:NamedThing EEG with occipital focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region. hp0009lx5z hecht 2012-07-20T12:02:28Z UMLS:C4023075 human_phenotype owl:Class HP:0003011 biolink:NamedThing Abnormality of the musculature Abnormality originating in one or more muscles, i.e., of the set of muscles of body. hp0009lx5z Muscular abnormality HP:0003197|HP:0003708|HP:0040290 UMLS:C4021745 human_phenotype owl:Class HP:0100195 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 4th toe hp0009lx5z Fragmentation of the end part of the innermost bone of the 4th toe doelkens 2010-06-24T04:54:59Z UMLS:C4022226 human_phenotype owl:Class HP:0100070 biolink:NamedThing Fragmentation of the epiphyses of the 4th toe hp0009lx5z Fragmentation of the end part of the 4th toe bone doelkens 2010-06-24T09:59:30Z UMLS:C4022351 human_phenotype owl:Class HP:0012442 biolink:NamedThing Gallbladder dyskinesia Reduced motility of the gallbladder with reduced emptying fraction. hp0009lx5z Patients with this gallbladder dyskinesia present with biliary-type pain but no evidence of gallstones in the gallbladder. The diagnosis is made by performing a radionuclide investigation of the gallbladder ejection fraction. An abnormal gallbladder ejection fraction has a value less than 40 percent. peter 2013-11-23T02:28:07Z UMLS:C1449631|MSH:D001657 human_phenotype owl:Class HP:0000402 biolink:NamedThing Stenosis of the external auditory canal An abnormal narrowing of the external auditory canal. hp0009lx5z External auditory canal stenosis|Narrow external auditory canals|Narrow ear canal|Narrowing of passageway from outer ear to middle ear|Narrow auditory canals|Stenotic external auditory canal|Narrow external auditory meatus HP:0000373 SNOMEDCT_US:301061006|SNOMEDCT_US:300127002|UMLS:C0395837|UMLS:C0576860 human_phenotype owl:Class HP:0012034 biolink:NamedThing Liposarcoma Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway. hp0009lx5z peter 2012-07-27T01:40:25Z MPATH:418|SNOMEDCT_US:254829001|MSH:D008080|SNOMEDCT_US:49430005|UMLS:C0023827 human_phenotype owl:Class HP:0005227 biolink:NamedThing Adenomatous colonic polyposis Presence of multiple adenomatous polyps in the colon. hp0009lx5z Multiple colonic adenomatous polyps|Multiple adenomatous colon polyps HP:0005226 MEDDRA:10056981|UMLS:C1868071 human_phenotype owl:Class HP:0100273 biolink:NamedThing Neoplasm of the colon hp0009lx5z Colon tumour|Colon tumor doelkens 2010-07-28T05:37:31Z SNOMEDCT_US:126838000|NCIT:C3262|MSH:D003110|UMLS:C0009375 human_phenotype owl:Class HP:0010017 biolink:NamedThing Cone-shaped epiphysis of the 1st metacarpal A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance. hp0009lx5z Cone-shaped end part of the 1st long bone of hand doelkens 2009-05-27T04:02:50Z UMLS:C4024106 human_phenotype owl:Class HP:0030670 biolink:NamedThing Hamartoma of the orbital region A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region. hp0009lx5z UMLS:C4073121 owl:Class HP:0410178 biolink:NamedThing Increased glucose-6-phosphate dehydrogenase level in blood An increase in the level of glucose-6-phosphate dehydrogenase in the blood. hp0009lx5z Increased G6PD level in blood 2018-05-21 17:55:36+00:00 owl:Class HP:0410177 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level in blood An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood. hp0009lx5z Abnormal G6PD level in blood 2018-05-21 17:54:53+00:00 owl:Class HP:0001949 biolink:NamedThing Hypokalemic alkalosis hp0009lx5z SNOMEDCT_US:22774003|UMLS:C0085570 human_phenotype owl:Class HP:0009973 biolink:NamedThing Complete duplication of the phalanges of the 4th finger A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. hp0009lx5z Complete duplication of the bones of the ring finger doelkens 2009-05-26T02:20:08Z UMLS:C4024135 human_phenotype owl:Class HP:0009998 biolink:NamedThing Complete duplication of phalanx of hand A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. hp0009lx5z Complete duplication of hand bones doelkens 2009-05-26T02:30:16Z UMLS:C4024121 human_phenotype owl:Class HP:0000212 biolink:NamedThing Gingival overgrowth Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. hp0009lx5z Gum hypertrophy|Oral soft tissue hyperplasia|Gingival hyperplasia|Hypertrophic gingivitis|Gingival enlargement|Gum enlargement This finding is to be distinguished from overgrowth of the alveolar ridge. HP:0000195 UMLS:C0017567|SNOMEDCT_US:441798003|UMLS:C0376480|UMLS:C0017566|SNOMEDCT_US:441787004|SNOMEDCT_US:54711002|MSH:D005885|MSH:D005886|MSH:D019214 human_phenotype owl:Class HP:0002828 biolink:NamedThing Multiple joint contractures hp0009lx5z UMLS:C0158118|SNOMEDCT_US:19393004|SNOMEDCT_US:202264009 human_phenotype owl:Class HP:0001371 biolink:NamedThing Flexion contracture A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. hp0009lx5z Joint contracture|Joint contractures|Flexion contractures of joints|Contracture|Contractures|Flexed joint that cannot be straightened|Flexion contractures HP:0005053|HP:0001372|HP:0001381|HP:0005660|HP:0005189 SNOMEDCT_US:385522000|UMLS:C0009917|UMLS:C1850530|SNOMEDCT_US:7890003|SNOMEDCT_US:55033002|UMLS:C0333068|UMLS:C0009918|SNOMEDCT_US:88565003|SNOMEDCT_US:203598005|SNOMEDCT_US:57048009|MSH:D003286 human_phenotype owl:Class HP:0031632 biolink:NamedThing Anomalous origin of the right subclavian artery from the descending aorta Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery. hp0009lx5z 2017-12-17 01:01:57+00:00 peter owl:Class HP:0001586 biolink:NamedThing Vesicovaginal fistula The presence of a fistula connecting the urinary bladder to the vagina. hp0009lx5z MSH:D014719|UMLS:C0042582|SNOMEDCT_US:89405008 human_phenotype owl:Class HP:0004321 biolink:NamedThing Bladder fistula The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin. hp0009lx5z peter 2008-02-25T12:32:00Z SNOMEDCT_US:68666001|UMLS:C0005690|MSH:D001747 human_phenotype owl:Class HP:0033270 biolink:NamedThing Glomerular capillary congestion Global distention of glomerular capillaries with intraluminal intact red blood cells. hp0009lx5z Glomerular congestion 2020-11-28 16:07:32+00:00 peter owl:Class HP:0009683 biolink:NamedThing Small epiphysis of the distal phalanx of the thumb Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. hp0009lx5z Small end part of thumb outermost bone doelkens 2009-01-30T09:18:09Z UMLS:C4024236 human_phenotype owl:Class HP:0100140 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 3rd toe hp0009lx5z Irregular end part of the outermost bone of the 3rd toe doelkens 2010-06-24T10:23:44Z UMLS:C4022281 human_phenotype owl:Class HP:0010087 biolink:NamedThing Bullet-shaped proximal phalanx of the hallux An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped innermost bone of the big toe doelkens 2009-05-29T12:17:16Z UMLS:C4024060 human_phenotype owl:Class HP:0030860 biolink:NamedThing Abnormal CSF amyloid level Abnormal concentration of amyloid in the cerebrospinal fluid (CSF). hp0009lx5z Abnormal CSF A[beta]42 level In Alzheimer disease, histopathology typically reveals extracellular accumulations of amyloid beta (Abeta) in senile plaques and intracellular neurofibrillary tangles of hyperphosphorylated tau (P-tau). A[beta]42 is the 42 amino acid isoform of amyloid beta. Using positron emission tomography several studies found an inverse correlation between brain amyloid load and CSF A[beta]42. UMLS:C4280740 owl:Class HP:0025456 biolink:NamedThing Abnormal CSF protein level Any deviation from the normal range of a protein concentration in the cerebrospinal fluid. hp0009lx5z 2017-05-05 10:32:59+00:00 HPO:probinson owl:Class HP:0041164 biolink:NamedThing Fractured talus A partial or complete breakage of the talus. hp0009lx5z bone talus owl:Class HP:0025599 biolink:NamedThing Inferior oblique muscle overaction A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye. hp0009lx5z 2018-01-13 21:25:58+00:00 HPO:probinson owl:Class HP:0002127 biolink:NamedThing Abnormal upper motor neuron morphology Any structural anomaly that affects the upper motor neuron. hp0009lx5z Abnormal shape of upper motor neuron previous def: 'has part' some (quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal)) UMLS:C4025723 human_phenotype owl:Class HP:0002450 biolink:NamedThing Abnormal motor neuron morphology Any structural anomaly that affects the motor neuron. hp0009lx5z Abnormal shape of motor neuron UMLS:C4025707 human_phenotype owl:Class HP:0032116 biolink:NamedThing Macrosquare-wave jerks Horizontal 10-40 degree excursions from fixation and back again. hp0009lx5z 2018-11-17 14:46:33+00:00 peter owl:Class HP:0032114 biolink:NamedThing Saccadic intrusion An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade. hp0009lx5z 2018-11-17 14:42:13+00:00 peter owl:Class HP:0025618 biolink:NamedThing Reduced plasma cell count An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. hp0009lx5z 2019-04-08 23:52:54+00:00 HPO:probinson owl:Class HP:0025617 biolink:NamedThing Abnormal plasma cell count An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. hp0009lx5z 2019-04-08 23:51:27+00:00 HPO:probinson owl:Class HP:0007362 biolink:NamedThing Aplasia/Hypoplasia of the brainstem hp0009lx5z Absent/small brainstem|Absent/underdeveloped brainstem peter 2008-03-31T05:33:00Z UMLS:C4024904 human_phenotype owl:Class HP:0002977 biolink:NamedThing Aplasia/Hypoplasia involving the central nervous system Absence or underdevelopment of tissue in the central nervous system. hp0009lx5z Absent/underdeveloped central nervous system tissue|Aplasia/Hypoplasia involving the CNS peter 2008-03-31T05:13:00Z HP:0001323 UMLS:C4025665 human_phenotype owl:Class HP:0000723 biolink:NamedThing Restrictive behavior Behavior characterized by an abnormal limitation to few interests and activities. hp0009lx5z Restrictive behavior, interests, and activities|Restricted behavior|Restricted behaviour|Restrictive behaviour UMLS:C4021799|UMLS:C2675334 human_phenotype owl:Class HP:0000729 biolink:NamedThing Autistic behavior Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. hp0009lx5z Autistic behaviors|ASD|Autistic behaviours|Autism spectrum disorders|Autism spectrum disorder|Autistic behaviour|Pervasive developmental disorder This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. UMLS:C1510586|UMLS:C0856975|MSH:D000067877 human_phenotype owl:Class HP:0033764 biolink:NamedThing Death in middle age Death between the age of 40 and 60 years. hp0009lx5z 2021-04-30 11:20:49+00:00 peter owl:Class HP:0033763 biolink:NamedThing Death in adulthood Cessation of life at the age of 16 years or later. hp0009lx5z 2021-04-30 11:20:03+00:00 peter owl:Class HP:0001852 biolink:NamedThing Sandal gap A widely spaced gap between the first toe (the great toe) and the second toe. hp0009lx5z Wide space between 1st, 2nd toes|Widely spaced first and second toes|Sandal gap between first and second toes|Widely spaced 1st-2nd toes|Widened gap first and second toe|Wide space between first and second toes|Increased space between first and second toes|Gap between 1st and 2nd toes|Wide-spaced big toe|Gap between first and second toe|Space between great toe and second toe|Widened gap 1st-2nd toes UMLS:C1840069 human_phenotype owl:Class HP:0005680 biolink:NamedThing Tongue-like lumbar vertebral deformities A tongue-like protusion from the anterior aspect of lumbar vertebral bodies. hp0009lx5z UMLS:C4025156 human_phenotype owl:Class HP:0008430 biolink:NamedThing Anterior beaking of lumbar vertebrae Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. hp0009lx5z Anterior tongue-like protrusion of lumbar vertebral bodies HP:0005664 UMLS:C4021541 human_phenotype owl:Class HP:0009129 biolink:NamedThing Upper limb amyotrophy Muscular atrophy involving the muscles of the upper limbs. hp0009lx5z Amyotrophy involving the upper limbs peter 2008-04-07T05:01:00Z HP:0003471 UMLS:C4021523 human_phenotype owl:Class HP:0430023 biolink:NamedThing Abnormality of the maxillary sinus An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity. hp0009lx5z Abnormality of the upper jaw sinus|Abnormality of the maxillary antrum|Abnormality of the antrum of Highmore UMLS:C4073205 owl:Class HP:0002761 biolink:NamedThing Generalized joint laxity Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. hp0009lx5z Generalised joint laxity|Hypermobility of all joints|Joint laxity, generalized|Joint laxity, generalised UMLS:C1836308 human_phenotype owl:Class HP:0001388 biolink:NamedThing Joint laxity Lack of stability of a joint. hp0009lx5z Loose-jointedness|Loosejointedness|Lax joints|Hyperlaxity|Joint instability|Joint ligamentous laxity|Ligamentous laxity Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. HP:0001380|HP:0001383|HP:0002771 MSH:D007593|UMLS:C0086437|SNOMEDCT_US:298203008|UMLS:C0158359|SNOMEDCT_US:27911000 human_phenotype owl:Class HP:0010312 biolink:NamedThing Asymmetry of the breasts The presence of asymmetrical breasts. hp0009lx5z peter 2009-07-12T02:32:46Z UMLS:C1854013|MSH:C565299 human_phenotype owl:Class HP:0012369 biolink:NamedThing Abnormality of malar bones An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla. hp0009lx5z Anomaly of the malar bones|Malformation of the malar bones|Deformity of the malar bones|Malar anomaly The malar bones are a confluence of the convex prominence of the zygomatic bone known as the malar surface, along with the malar process (most medial and superior part) of the maxilla. It forms the medial border of the inferior bony orbit, and is contiguous with the lateral boundary of the nasal bridge. peter 2013-10-13T02:37:51Z UMLS:C4022926 human_phenotype owl:Class HP:0410269 biolink:NamedThing Labial hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip. hp0009lx5z 2018-10-30 02:07:28+00:00 owl:Class HP:0033836 biolink:NamedThing Abnormal intrarenal artery morphology An anomalous structure of an artery located in the kidney. hp0009lx5z Abnormal kidney arterial blood vessel morphology 2021-05-16 17:29:18+00:00 peter owl:Class HP:0033835 biolink:NamedThing Abnormal renal vascular morphology Anomalous structure of a blood vessel in the kidney. hp0009lx5z 2021-05-16 17:27:46+00:00 peter owl:Class HP:0041236 biolink:NamedThing Fractured middle phalanx of manus A partial or complete breakage of the middle phalanx of manus. hp0009lx5z bone middle phalanx of manus owl:Class HP:0009103 biolink:NamedThing Aplasia/Hypoplasia involving the pelvis hp0009lx5z Absent/small pelvis|Absent/underdeveloped pelvis peter 2008-04-04T08:40:00Z UMLS:C4024597 human_phenotype owl:Class HP:0010506 biolink:NamedThing Abnormal plantar dermatoglyphics An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot. hp0009lx5z Abnormal prints on feet|Abnormal dermatoglyphics on feet peter 2009-09-19T09:47:44Z UMLS:C4021258 human_phenotype owl:Class HP:0005090 biolink:NamedThing Lateral femoral bowing A lateral bending or abnormal curvature of the femur. hp0009lx5z HP:0005022 UMLS:C1866737 human_phenotype owl:Class HP:0032230 biolink:NamedThing Cytoplasmic antineutrophil antibody positivity The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. hp0009lx5z 2019-01-26 14:43:56+00:00 peter owl:Class HP:0003453 biolink:NamedThing Antineutrophil antibody positivity The presence of autoantibodies in the serum that react against neutrophils. hp0009lx5z Neutrophil antibody positive|Antineutrophil antibodies Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive. UMLS:C1858981 human_phenotype owl:Class HP:3000065 biolink:NamedThing Abnormal lacrimal artery morphology An abnormality of a lacrimal artery. hp0009lx5z Abnormality of lacrimal artery vasilevs 2015-08-07T03:38:25Z UMLS:C4073272 human_phenotype owl:Class HP:0010472 biolink:NamedThing Abnormal circulating porphyrin concentration An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. hp0009lx5z peter 2009-09-15T09:53:11Z UMLS:C4023814 owl:Class HP:0032651 biolink:NamedThing Elevated CSF chitinase-3-like protein 1 level Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid. hp0009lx5z peter owl:Class HP:0001417 biolink:NamedThing X-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. hp0009lx5z X-linked form|X-linked HP:0001418 SNOMEDCT_US:263934009|MSH:D050172|UMLS:C0241764 human_phenotype owl:Class HP:0100570 biolink:NamedThing Carcinoid tumor A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. hp0009lx5z Carcinoid|Carcinoid tumours|Carcinoid tumour|Carcinoid tumors doelkens 2010-12-21T04:57:15Z UMLS:C0007095|MSH:D002276|SNOMEDCT_US:443492008|SNOMEDCT_US:189607006 human_phenotype owl:Class HP:0012483 biolink:NamedThing Abnormal alpha granules Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury. hp0009lx5z This feature can be observed by electron microscopy. Alpha granules normally contain a number of proteins including von Willebrand factor, and fibrinogen. peter 2013-11-29T07:44:49Z UMLS:C4022886 human_phenotype owl:Class HP:0011883 biolink:NamedThing Abnormal platelet granules An anomaly of alpha or dense granules or platelet lysosomes. hp0009lx5z Platelets contain two classes of granule: the alpha granules and the dense granules. During platelet activation, the contents of the granules are discharged into the lumen of the open canalicular system, from which they are then released to the extracellular space. peter 2012-06-02T09:47:57Z UMLS:C4023146 human_phenotype owl:Class HP:0040319 biolink:NamedThing Dark urine An abnormal dark color of the urine. hp0009lx5z http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean ORCID:0000-0002-5316-1399 owl:Class HP:0012086 biolink:NamedThing Abnormal urinary color An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color. hp0009lx5z Abnormal urinary color|Abnormal urine colour|Abnormal urine color|Abnormal urinary colour peter 2012-08-20T09:12:30Z UMLS:C0522153|SNOMEDCT_US:167239007|SNOMEDCT_US:102867009 human_phenotype owl:Class HP:0041243 biolink:NamedThing Fractured proximal phalanx of manus A partial or complete breakage of the proximal phalanx of manus. hp0009lx5z bone proximal phalanx of manus owl:Class HP:0041241 biolink:NamedThing Fractured phalanx of manus A partial or complete breakage of the phalanx of manus. hp0009lx5z bone phalanx of manus owl:Class HP:0032331 biolink:NamedThing Increased urinary 11-deoxytetrahydrocorticosterone level An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine. hp0009lx5z 2019-02-18 13:59:35+00:00 Increased urinary 11-deoxytetrahydrocorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. peter owl:Class HP:0200083 biolink:NamedThing Severe limb shortening hp0009lx5z Severe limb shortening sebastiankohler 2013-06-03T04:14:07Z UMLS:C1835446 human_phenotype owl:Class HP:0002983 biolink:NamedThing Micromelia The presence of abnormally small extremities. hp0009lx5z Smaller or shorter than typical limbs HP:0005753|HP:0003030 UMLS:C0025995|MEDDRA:10027546|SNOMEDCT_US:74370006 human_phenotype owl:Class HP:0012178 biolink:NamedThing Reduced natural killer cell activity Reduced ability of the natural killer cell to function in the adaptive immune response. hp0009lx5z peter 2013-02-23T10:05:33Z UMLS:C1839969 human_phenotype owl:Class HP:0012177 biolink:NamedThing Abnormal natural killer cell physiology A functional anomaly of the natural killer cell. hp0009lx5z peter 2013-02-23T10:03:37Z UMLS:C4023012 human_phenotype owl:Class HP:0005791 biolink:NamedThing Cortical thickening of long bone diaphyses Abnormal thickening of the cortex of the diaphyseal region of long bones. hp0009lx5z UMLS:C4025133 human_phenotype owl:Class HP:0100571 biolink:NamedThing Cardiac diverticulum A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular. hp0009lx5z Ventricular diverticulum doelkens 2010-12-21T05:11:26Z UMLS:C4020965 human_phenotype owl:Class HP:0007024 biolink:NamedThing Pseudobulbar paralysis Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. hp0009lx5z Pseudobulbar palsy|Pseudobulbar syndrome HP:0006819|HP:0002201 SNOMEDCT_US:7379000|UMLS:C0033790|MSH:D020828 owl:Class HP:0031546 biolink:NamedThing Cardiac conduction abnormality Any anomaly of the progression of electrical impulses through the heart. hp0009lx5z Cardiac conduction defects|Cardiac conduction abnormalities|Abnormality of cardiac conduction system|Heart conduction disorder|Abnormality of cardiac conduction 2017-09-24 22:36:44+00:00 The conduction system of the heart initiates and coordinates the electric signal that causes the rhythmic and synchronized contractions of the atria and ventricles. In higher vertebrates, this system comprises the sinuatrial (SAN) and atrioventricular nodes (AVN) and the wiring of the ventricles. The latter comprises the atrioventricular bundle (AVB), the left and right bundle branches (BBs), and the peripheral ventricular conduction system (PVCS). peter owl:Class HP:0012010 biolink:NamedThing EEG with frontal focal spike waves EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. hp0009lx5z hecht 2012-07-20T11:59:21Z UMLS:C4023081 human_phenotype owl:Class HP:0011197 biolink:NamedThing EEG with focal spike waves EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. hp0009lx5z hecht 2011-11-19T11:12:45Z UMLS:C4023477 human_phenotype owl:Class HP:0004005 biolink:NamedThing Large radial epiphyses hp0009lx5z UMLS:C4025452 human_phenotype owl:Class HP:0020147 biolink:NamedThing 2-Methylbutyryl glycinuria Increased concentration of 2-methylbutyryl glycine in the urine. hp0009lx5z This phenotype can be related to a defect in the degradation pathway of L- isoleucine leading to increased urinary excretion of 2-methylbutyryl glycine. robinp 2019-07-05 19:25:20+00:00 owl:Class HP:0002062 biolink:NamedThing Morphological abnormality of the pyramidal tract Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. hp0009lx5z Abnormality of the pyramidal tracts|Pyramidal tract disease The pyramidal tracts comprise both the corticospinal and corticobulbar tracts. HP:0012445 UMLS:C4020859|UMLS:C4021761 human_phenotype owl:Class HP:0006608 biolink:NamedThing Midclavicular hypoplasia Underdevelopment of the middle portion of the clavicle. hp0009lx5z Underdeveloped middle portion of the collarbone UMLS:C1844530 human_phenotype owl:Class HP:0000894 biolink:NamedThing Short clavicles Reduced length of the clavicles. hp0009lx5z Underdeveloped clavicles|Clavicular hypoplasia|Hypoplastic clavicles|Short collarbone HP:0005698|HP:0005902|HP:0000898 SNOMEDCT_US:93250003|UMLS:C0426799 human_phenotype owl:Class HP:0031899 biolink:NamedThing Abnormal coagulation factor V activity Any deviation from the activity of coagulation factor V. hp0009lx5z Abnormal factor V activity 2018-05-19 15:11:38+00:00 Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. peter owl:Class HP:0100748 biolink:NamedThing Muscular edema hp0009lx5z Muscular oedema doelkens 2011-06-06T06:31:20Z UMLS:C4021979 human_phenotype owl:Class HP:0012643 biolink:NamedThing Foveal hypopigmentation Decreased amount of pigmentation in the fovea centralis. hp0009lx5z peter 2014-01-22T09:25:34Z UMLS:C4022807 human_phenotype owl:Class HP:0003027 biolink:NamedThing Mesomelia Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. hp0009lx5z Mesomelic limb shortening|Symmetric mesomelic limb shortness|Disproportionately short middle portion of limb|Mesomelic shortening of limbs Shortening of the limbs where the predominant shortness is in the middle bones. UMLS:C0549306 human_phenotype owl:Class HP:0009826 biolink:NamedThing Limb undergrowth Limb shortening because of underdevelopment of one or more bones of the extremities. hp0009lx5z Limb undergrowth|Short limbs|limb shortening|Hypoplasia involving bones of the extremities|Short limb doelkens 2009-02-23T05:16:44Z HP:0005057|HP:0003058|HP:0005049 UMLS:C0239399 human_phenotype owl:Class HP:0030771 biolink:NamedThing Mallet finger Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own. hp0009lx5z SNOMEDCT_US:64298006|UMLS:C0158473 owl:Class HP:0031052 biolink:NamedThing Elevated vascular endothelial growth factor level Increased blood concentration of vascular endothelial growth factor (VEGF). hp0009lx5z 2017-05-27 15:09:56+00:00 peter owl:Class HP:0004274 biolink:NamedThing Deficient ossification of hand bones hp0009lx5z Deficient maturation of hand bones UMLS:C4280534|UMLS:C4025376 human_phenotype owl:Class HP:0006398 biolink:NamedThing Flat distal femoral epiphysis An abnormal flattening of the distal epiphysis of femur. hp0009lx5z Flat end part of outermost thighbone|Flattened distal femoral epiphyses UMLS:C4021599 human_phenotype owl:Class HP:0025023 biolink:NamedThing Rectal atresia A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. hp0009lx5z Atresia of the rectum 2016-08-26 11:13:58+00:00 HPO:probinson owl:Class HP:0030762 biolink:NamedThing Mesangiolysis Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. hp0009lx5z Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis. UMLS:C4054531 owl:Class HP:0004246 biolink:NamedThing Delayed ossification of the scaphoid Formation of bone tissue of scaphoid is less than expected for age. hp0009lx5z Delayed maturation of the scaphoid UMLS:C4021670 human_phenotype owl:Class HP:0045003 biolink:NamedThing Abnormal ossification of the scaphoid hp0009lx5z HPO:skoehler UMLS:C4022407 owl:Class HP:0410310 biolink:NamedThing Abnormality of neutrophil morphology in CSF An abnormal form or size of neutrophils in the cerebrospinal fluid. hp0009lx5z Abnormality of neutrophil morphology in cerebrospinal fluid owl:Class HP:0009171 biolink:NamedThing Triangular epiphyses of the metacarpals A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals. hp0009lx5z Triangular end part of the long bone of hand doelkens 2008-12-30T02:03:34Z UMLS:C4024558 human_phenotype owl:Class HP:0005917 biolink:NamedThing Supernumerary metacarpal bones The presence of more than the normal number of metacarpal bones. hp0009lx5z Extra long bones of hand peter 2008-03-27T02:18:00Z UMLS:C0545617|SNOMEDCT_US:91846008 human_phenotype owl:Class HP:0000381 biolink:NamedThing Stapes ankylosis Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). hp0009lx5z Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed. UMLS:C1861326 human_phenotype owl:Class HP:0008628 biolink:NamedThing Abnormality of the stapes An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. hp0009lx5z Stapedial abnormalities UMLS:C4021532 human_phenotype owl:Class HP:0031850 biolink:NamedThing Abnormal hematocrit Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood. hp0009lx5z Abnormal Hct 2018-05-05 15:58:22+00:00 Note that the hematocrit is one of the measurements that can contribution to the diagnosis of anemia or polycythemia, which is coded separately. peter owl:Class HP:0032661 biolink:NamedThing Generalized convulsive status epilepticus A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. hp0009lx5z Generalised convulsive status epilepticus peter owl:Class HP:0032660 biolink:NamedThing Convulsive status epilepticus A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. comment: source: seeAlso: Tonic-clonic status epilepticus hp0009lx5z Tonic-clonic status epilepticus In 2015, the ILAE Task Force on Classification of Status Epilepticus did proposed that time t1 (indicating the time that emergency treatment should be started because the seizure is unlikely to terminate spontaneously) is 5 minutes and t2 (the time at which long-term consequences of the seizure may be expected) is 30 minutes for convulsive (tonic-clonic) status epilepticus.This 5-minute timeframe has been endorsed by the 2012 Neurocritical Care Society Guidelines and the 2016 American Epilepsy Society Guidelines to guide when emergent treatment for convulsive status epilepticus should start. This term includes convulsive status epilepticus of focal, generalized or unknown onset. peter owl:Class HP:0010804 biolink:NamedThing Tented upper lip vermilion Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. hp0009lx5z Inverted V-shaped upper lip|Tented mouth|Tented upper lip This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture. peter 2010-06-26T02:32:35Z HP:0100895 UMLS:C1853383|UMLS:C1839767|UMLS:C1850072 human_phenotype owl:Class HP:0031667 biolink:NamedThing Holosystolic murmur A heart murmur that occurs during the entire systolic phase from S1 to S2. hp0009lx5z 2017-12-17 16:20:33+00:00 peter owl:Class HP:0031664 biolink:NamedThing Systolic heart murmur A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. hp0009lx5z 2017-12-17 16:16:41+00:00 peter owl:Class HP:0003900 biolink:NamedThing Small humeral epiphyses hp0009lx5z Small end part of long bone in upper arm UMLS:C4025520 human_phenotype owl:Class HP:0003162 biolink:NamedThing Fasting hypoglycemia hp0009lx5z Low blood sugar when fasting SNOMEDCT_US:6974005|UMLS:C0271708|MSH:D007003 human_phenotype owl:Class HP:0031539 biolink:NamedThing Linear IgA deposits along the epidermal basement membrane zone Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. hp0009lx5z 2017-09-24 01:33:51+00:00 peter owl:Class HP:0031538 biolink:NamedThing Abnormal dermoepidermal junction morphology Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments. hp0009lx5z 2017-09-24 01:32:24+00:00 peter owl:Class HP:0008399 biolink:NamedThing Circumungual hyperkeratosis A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails. hp0009lx5z Thick skin around nails UMLS:C4024681 human_phenotype owl:Class HP:0100803 biolink:NamedThing Abnormality of the periungual region An abnormality of the region around the nails of the fingers or toes. hp0009lx5z doelkens 2011-06-09T11:59:15Z UMLS:C4021966 owl:Class HP:0003175 biolink:NamedThing Hypoplastic ischia Underdevelopment of the ischium, which forms the lower and back part of the hip bone. hp0009lx5z Hypoplastic ischii|Hypoplastic ischial bones|Hypoplastic ischium UMLS:C1859447 human_phenotype owl:Class HP:0011538 biolink:NamedThing Atrial situs inversus Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side. hp0009lx5z peter 2012-04-07T10:40:16Z Fyler:150|ICD-10:Q89.3|EPCC:03.01.03|Fyler:0150|UMLS:C4023312 human_phenotype owl:Class HP:0006118 biolink:NamedThing Shortening of all distal phalanges of the fingers Hypoplasia of all of the distal phalanx of finger. hp0009lx5z Shortening of all outermost bones of the fingers|Brachytelephalangy HP:0005658 UMLS:C4021608 human_phenotype owl:Class HP:0008410 biolink:NamedThing Subungual hyperkeratotic fragments hp0009lx5z UMLS:C1852311 human_phenotype owl:Class HP:0001574 biolink:NamedThing Abnormality of the integument An abnormality of the integument, which consists of the skin and the superficial fascia. hp0009lx5z Abnormality of skin, hair, or nails. UMLS:C4025761 human_phenotype owl:Class HP:0012263 biolink:NamedThing Immotile cilia hp0009lx5z peter 2013-04-07T10:11:17Z UMLS:C1855672 human_phenotype owl:Class HP:0012262 biolink:NamedThing Abnormal ciliary motility Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. hp0009lx5z Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke. peter 2013-04-07T10:10:35Z UMLS:C4022983 human_phenotype owl:Class HP:0033598 biolink:NamedThing Fibrillar glomerular subepithelial deposits Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). hp0009lx5z 2021-01-30 14:16:36+00:00 peter owl:Class HP:0033603 biolink:NamedThing Glomerular subepithelial deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). hp0009lx5z 2021-01-30 14:55:42+00:00 peter owl:Class HP:0000205 biolink:NamedThing Pursed lips An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. hp0009lx5z Tightly closed lips|Pursed lips UMLS:C1832130 human_phenotype owl:Class HP:0012504 biolink:NamedThing Abnormal size of pituitary gland A deviation from the normal size of the pituitary gland. hp0009lx5z peter 2013-11-30T09:36:04Z UMLS:C4022874 human_phenotype owl:Class HP:0009976 biolink:NamedThing Duplication of the middle phalanx of the 4th finger Partial or complete duplication of the middle phalanx of ring finger. hp0009lx5z Partial/complete duplication of the middle bone of the ring finger|Partial/complete duplication of the middle phalanx of the 4th finger doelkens 2009-05-26T02:20:08Z UMLS:C4021357 human_phenotype owl:Class HP:0010008 biolink:NamedThing Duplication of the middle phalanx of hand This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. hp0009lx5z Duplication of the middle bones of hand|Partial/complete duplication of the middle phalanges of the hand doelkens 2009-05-26T05:29:46Z UMLS:C4021346 human_phenotype owl:Class HP:0100553 biolink:NamedThing Hemihypertrophy of lower limb Overgrowth of only one leg. hp0009lx5z Overgrowth of one leg doelkens 2010-12-21T03:58:40Z UMLS:C0431928|SNOMEDCT_US:205369009 human_phenotype owl:Class HP:0010496 biolink:NamedThing Hypertrophy of the lower limb Abnormal increase in size of the lower limbs (due to an increase of the size of cells). hp0009lx5z peter 2009-09-17T11:08:38Z UMLS:C4023803 human_phenotype owl:Class HP:0030720 biolink:NamedThing Subchorionic septal cyst Cyst on the surface of the placenta consisting of amnion and chorion. hp0009lx5z UMLS:C4280801 owl:Class HP:0003929 biolink:NamedThing Ground glass opacity of humeral diaphysis hp0009lx5z UMLS:C4025499 human_phenotype owl:Class HP:0000691 biolink:NamedThing Microdontia Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. hp0009lx5z Tooth hypotrophy|Hypotrophic tooth|Tooth hypoplasia|Underdeveloped tooth|Decreased size of tooth|Small tooth|Decreased width of tooth|Small teeth Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately. UMLS:C4280612|UMLS:C4280611|UMLS:C0240340|SNOMEDCT_US:32337007 owl:Class HP:0009463 biolink:NamedThing Ulnar deviation of the 3rd finger Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). hp0009lx5z Ulnar deviation of middle fingers doelkens 2009-01-15T09:35:47Z HP:0005865|HP:0006022 UMLS:C3554614 human_phenotype owl:Class HP:0003992 biolink:NamedThing Slender ulna Reduction in diameter of the ulna. hp0009lx5z UMLS:C1968814 human_phenotype owl:Class HP:0003969 biolink:NamedThing Slender forearm bones hp0009lx5z UMLS:C4025471 human_phenotype owl:Class HP:0011261 biolink:NamedThing Darwin tubercle of helix Small expansion of the helical fold at the junction of the superior and descending portions of the helix. hp0009lx5z Helix, Darwin tubercle peter 2011-12-18T06:02:42Z UMLS:C4021179 human_phenotype owl:Class HP:0002454 biolink:NamedThing Eye of the tiger anomaly of globus pallidus The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. hp0009lx5z This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus. UMLS:C4025705 human_phenotype owl:Class HP:0003871 biolink:NamedThing Deformed humerus hp0009lx5z Deformed long bone in upper arm UMLS:C4025539 human_phenotype owl:Class HP:0030322 biolink:NamedThing Vertebral artery hypoplasia Underdevelopment of the vertebral artery. hp0009lx5z UMLS:C1868737 owl:Class HP:0032774 biolink:NamedThing Focal impaired awareness autonomic seizure with urge to urinate/defecate A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0032765 biolink:NamedThing Focal autonomic seizure with urge to urinate/defecate A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature. hp0009lx5z peter owl:Class HP:0002143 biolink:NamedThing Abnormality of the spinal cord An abnormality of the spinal cord (myelon). hp0009lx5z Spinal cord pathology|Abnormality of the spinal cord|Spinal cord disease UMLS:C4025722|SNOMEDCT_US:48522003|UMLS:C0037928|MSH:D013118 human_phenotype owl:Class HP:0012181 biolink:NamedThing Entrapment neuropathy Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss. hp0009lx5z An entrapment neuropathy is an isolated peripheral nerve injury due to mechanical contriction in a fibrous or fibro-osseous tunnel or to deformation of the nerve by a fibrous band. peter 2013-02-23T10:20:59Z SNOMEDCT_US:45781009|UMLS:C1510429|MSH:D009408 human_phenotype owl:Class HP:0012223 biolink:NamedThing Splenic rupture A breach of the capsule of the spleen. hp0009lx5z Splenic rupture|Ruptured spleen peter 2013-03-30T07:23:49Z MSH:D013161|SNOMEDCT_US:234506007|UMLS:C0038000 human_phenotype owl:Class HP:0025074 biolink:NamedThing Abnormal QRS complex An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. hp0009lx5z 2016-09-26 10:46:17+00:00 HPO:probinson owl:Class HP:0100079 biolink:NamedThing Cone-shaped epiphyses of the 5th toe hp0009lx5z Cone-shaped end part of the pinky toe bone|Cone-shaped end part of the little toe bone|Cone-shaped end part of the pinkie toe bone doelkens 2010-06-24T10:00:02Z UMLS:C4022342 human_phenotype owl:Class HP:0033262 biolink:NamedThing Transphyseal fracture of the distal humerus A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis. hp0009lx5z Transphyseal distal humerus fracture 2020-11-28 15:04:25+00:00 Transphyseal fractures of the distal humerus typically occur in children younger than 3 years secondary to birth trauma, nonaccidental trauma, or a fall from a small height. peter owl:Class HP:0041055 biolink:NamedThing Fractured humerus A partial or complete breakage of the humerus. hp0009lx5z Fracture of the humerus|Broken humerus|Humeral fracture|Humerus fracture|bone humerus owl:Class HP:0002365 biolink:NamedThing Hypoplasia of the brainstem Underdevelopment of the brainstem. hp0009lx5z Brainstem hypoplasia|Hypoplastic brainstem|Underdeveloped brainstem|Small brainstem|Hypoplastic brain stem This finding can be demonstrated by magnetic resonance imaging. UMLS:C1842688 human_phenotype owl:Class HP:0009288 biolink:NamedThing Curved proximal phalanx of the 4th finger hp0009lx5z Curved innermost ring finger bone doelkens 2009-01-08T03:46:28Z UMLS:C4024467 human_phenotype owl:Class HP:0009285 biolink:NamedThing Curved phalanges of the 4th finger Curved appearance of the phalanges of the 4th (ring) finger. hp0009lx5z Curved ring finger bone doelkens 2009-01-08T03:44:14Z UMLS:C4024470 human_phenotype owl:Class HP:0008394 biolink:NamedThing Congenital onychodystrophy hp0009lx5z Congenital malformed nails UMLS:C1393669|UMLS:C4280413 human_phenotype owl:Class HP:0009278 biolink:NamedThing Ulnar deviation of the 4th finger Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger). hp0009lx5z Ulnar deviation of the ring finger doelkens 2009-01-07T04:24:53Z UMLS:C4024474 human_phenotype owl:Class HP:0007311 biolink:NamedThing Short stepped shuffling gait hp0009lx5z Short stepped shuffling walk UMLS:C3805715 human_phenotype owl:Class HP:0002362 biolink:NamedThing Shuffling gait A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. hp0009lx5z Shuffled walk SNOMEDCT_US:43005009|UMLS:C0231688|MSH:D020233 human_phenotype owl:Class HP:0025245 biolink:NamedThing Cutaneous cyst A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material. hp0009lx5z 2016-12-17 13:11:37+00:00 In contrast to cysts, vesicles, pustules and bullae do not have a complete epithelial lining and are therefore less well demarcated. HPO:probinson owl:Class HP:0030449 biolink:NamedThing Therapeutic abortion Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice. hp0009lx5z MSH:D000032|SNOMEDCT_US:386641000|UMLS:C0000820 owl:Class HP:0006016 biolink:NamedThing Delayed phalangeal epiphyseal ossification Delay in the process of formation and maturation of the epiphysis of one or more phalanx. hp0009lx5z Delayed bone maturation of end part of digital bone|Delayed phalangeal epiphyseal bone maturation UMLS:C4021609 human_phenotype owl:Class HP:0002663 biolink:NamedThing Delayed epiphyseal ossification hp0009lx5z Delayed epiphyseal ossification|Delayed maturation of end part of long bone|Delayed epiphyseal maturation|Delayed opacification of the epiphyses|Epiphyseal ossification delay HP:0005862 UMLS:C4280565|UMLS:C1865200 human_phenotype owl:Class HP:0009477 biolink:NamedThing Proximal/middle symphalangism of 4th finger Fusion of the proximal and middle phalanges of the 4th finger. hp0009lx5z Fused innermost and middle bone of fourth finger doelkens 2009-01-15T10:24:03Z HP:0009476 UMLS:C4024342 human_phenotype owl:Class HP:0000790 biolink:NamedThing Hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). hp0009lx5z Blood in urine|High urine occult blood UMLS:C0018965|SNOMEDCT_US:53298000|MSH:D006417|SNOMEDCT_US:34436003 human_phenotype owl:Class HP:0010360 biolink:NamedThing Broad phalanges of the 3rd toe hp0009lx5z Wide bones of 3rd toe doelkens 2009-07-16T11:51:17Z UMLS:C4023881 human_phenotype owl:Class HP:0000679 biolink:NamedThing Taurodontia Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. hp0009lx5z Large elongated pulp chamber|Taurodont|Taurodontism Taurodontia causes a molar shape that is visible on radiographs. Taurodontic teeth display proportionately short roots and enlarged pulp chambers. Body of the tooth and pulp chamber is enlarged. UMLS:C0266039|UMLS:C4280616|MSH:C536946|SNOMEDCT_US:51744007 owl:Class HP:0010541 biolink:NamedThing Cutis gyrata of scalp The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. hp0009lx5z Furrows in thickened skin on top of scalp|Scalp folds|Thickening of the scalp|Cutis verticis gyrata|Thickened folds on top of scalp|Scalp furrows peter 2009-09-23T10:15:33Z UMLS:C4280378|SNOMEDCT_US:51603000|UMLS:C0263417|UMLS:C4072877 human_phenotype owl:Class HP:0001965 biolink:NamedThing Abnormal scalp morphology Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. hp0009lx5z Abnormality of the scalp|Anomaly of scalp The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. UMLS:C4025734 owl:Class HP:0002488 biolink:NamedThing Acute leukemia A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). hp0009lx5z Acute blood cancer|Acute leukaemia|Acute leukemias peter 2008-03-27T10:32:00Z UMLS:C0085669|SNOMEDCT_US:24072005|SNOMEDCT_US:91855006|UMLS:C4280572 human_phenotype owl:Class HP:0100123 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 2nd toe hp0009lx5z Bracket shaped end part of the innermost bone of the 2nd toe doelkens 2010-06-24T10:06:29Z UMLS:C4022298 human_phenotype owl:Class HP:0033264 biolink:NamedThing Enlarged platelet dense granules Increased size of platelet dense granules. hp0009lx5z 2020-11-28 15:12:09+00:00 peter owl:Class HP:0012484 biolink:NamedThing Abnormal dense granules Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. hp0009lx5z This feature can be observed by electron microscopy. peter 2013-11-29T07:48:08Z UMLS:C4022885 human_phenotype owl:Class HP:0010925 biolink:NamedThing Nuclear punctate cataract hp0009lx5z peter 2010-12-12T04:26:25Z UMLS:C4023649 human_phenotype owl:Class HP:0007648 biolink:NamedThing Punctate cataract A type of cataract with punctate opacities of the lens. hp0009lx5z Punctate lenticular opacities UMLS:C0271165|UMLS:C1969675|SNOMEDCT_US:40714009 human_phenotype owl:Class HP:0001480 biolink:NamedThing Freckling The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. hp0009lx5z Freckling SNOMEDCT_US:403536009|SNOMEDCT_US:699225003|MSH:D008548|UMLS:C0016689 human_phenotype owl:Class HP:0012901 biolink:NamedThing Myotonia of the jaw Slowed relaxation of muscles in the jaw. hp0009lx5z peter 2014-06-23T11:18:29Z UMLS:C4022685 human_phenotype owl:Class HP:0009252 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 4th finger A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. hp0009lx5z Cone-shaped end part of the outermost bone of the ring finger doelkens 2009-01-07T12:07:34Z UMLS:C4024495 human_phenotype owl:Class HP:0009244 biolink:NamedThing Distal/middle symphalangism of 5th finger Fusion of the terminal/distal and middle phalanges of the 5th finger. hp0009lx5z Symphalangism of the terminal and middle phalanges of the 5th finger|Fused end and middle bones of pinkie finger|Fifth finger distal interphalangeal joint symphalangism|Fused end and middle bones of little finger|Fused end and middle bones of pinky finger|Fusion of the terminal and middle phalanges of the 5th finger|Symphalangism of the distal and middle phalanges of the 5th finger doelkens 2009-01-05T07:25:50Z HP:0006250|HP:0009176 UMLS:C4020781|UMLS:C1868573 human_phenotype owl:Class HP:0012776 biolink:NamedThing Abnormal ciliary body morphology A structural anomaly of the ciliary body. hp0009lx5z Abnormality of the ciliary body peter 2014-04-07T04:00:10Z UMLS:C4022726 human_phenotype owl:Class HP:0000553 biolink:NamedThing Abnormal uvea morphology An abnormality of the uvea, the vascular layer of the eyeball. hp0009lx5z Abnormality of the uvea UMLS:C4025842 human_phenotype owl:Class HP:0008049 biolink:NamedThing Abnormality of the extraocular muscles An abnormality of an extraocular muscle. hp0009lx5z There are six extraocular muscles that control the movements of the eye. peter 2008-04-02T12:14:00Z UMLS:C4024751 human_phenotype owl:Class HP:0032966 biolink:NamedThing Centrilobular emphysema A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones. hp0009lx5z Centriacinar emphysema peter owl:Class HP:0032396 biolink:NamedThing Transmantle columnar heterotopia Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma. hp0009lx5z 2019-02-24 16:09:59+00:00 peter owl:Class HP:0032391 biolink:NamedThing Subcortical heterotopia A form of heterotopia were the mislocalized gray matter is located deep within the white matter. hp0009lx5z 2019-02-24 16:03:34+00:00 peter owl:Class HP:0008804 biolink:NamedThing Broad femoral head Increased width of the femoral head. hp0009lx5z Wide head of thigh bone UMLS:C4024619 human_phenotype owl:Class HP:0009155 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 5th finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. hp0009lx5z Cone-shaped end part of the innermost bone of little finger|Cone-shaped epiphysis of the proximal phalanx of the little finger|Cone-shaped end part of the innermost bone of pinkie finger|Angel-shaped epiphysis of the proximal phalanx of the 5th finger|Cone-shaped end part of the innermost bone of pinky finger peter 2008-12-22T05:50:39Z UMLS:C4020784|UMLS:C4020783 human_phenotype owl:Class HP:0010270 biolink:NamedThing Cone-shaped epiphyses of the proximal phalanges of the hand hp0009lx5z Cone-shaped end part of the innermost hand bones doelkens 2009-07-06T04:25:12Z UMLS:C4023931 human_phenotype owl:Class HP:0030783 biolink:NamedThing Increased circulating interleukin 6 An increased concentration of interleukin-6 in the circulation. hp0009lx5z Increased serum IL-6|Increased serum interleukin-6 UMLS:C4280771 owl:Class HP:0001320 biolink:NamedThing Cerebellar vermis hypoplasia Underdevelopment of the vermis of cerebellum. hp0009lx5z Hypoplasia of the cerebellar vermis|Cerebellar vermal hypoplasia|Hypoplastic cerebellar vermis UMLS:C1840379 owl:Class HP:0010684 biolink:NamedThing Low alkaline phosphatase of bone origin An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood. hp0009lx5z Low ALP of bone origin doelkens 2010-03-05T11:12:47Z UMLS:C4023741 human_phenotype owl:Class HP:0001802 biolink:NamedThing Absent toenail Congenital absence of the toenail. hp0009lx5z Absent toenail|Absent toenails|Absent toenails (anonychia)|Anonychia of toenails UMLS:C1844555 human_phenotype owl:Class HP:0001798 biolink:NamedThing Anonychia Aplasia of the nail. hp0009lx5z Absent nails|Aplastic nails Total absence of nails. HP:0007593|HP:0008384 UMLS:C0265998|SNOMEDCT_US:23610003|MSH:C536377 human_phenotype owl:Class HP:0031728 biolink:NamedThing Mild hypermetropia A form of hypermetropia with not more than +2.00 diopters. hp0009lx5z Mild hyperopia 2018-01-21 13:18:26+00:00 peter owl:Class HP:0000540 biolink:NamedThing Hypermetropia An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. hp0009lx5z Hyperopia|Farsightedness|Long-sightedness The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). UMLS:C0020490|MSH:D006956|SNOMEDCT_US:38101003 human_phenotype owl:Class HP:0410145 biolink:NamedThing Decreased biotinidase level A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. hp0009lx5z 2018-03-12 20:14:33+00:00 owl:Class HP:0410144 biolink:NamedThing Abnormal biotinidase level An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. hp0009lx5z 2018-03-12 20:12:17+00:00 owl:Class HP:0033395 biolink:NamedThing Antilactoferrin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin. hp0009lx5z 2021-01-06 12:57:51+00:00 peter owl:Class HP:0011106 biolink:NamedThing Hypovolemia An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. hp0009lx5z Depleted blood volume peter 2011-06-07T11:18:54Z MSH:D020896|UMLS:C0546884|SNOMEDCT_US:28560003 human_phenotype owl:Class HP:0011104 biolink:NamedThing Abnormality of blood volume homeostasis An abnormality in the amount of volume occupied by intravascular blood. hp0009lx5z peter 2011-06-07T11:16:33Z UMLS:C4023537 human_phenotype owl:Class HP:0033115 biolink:NamedThing Elevated circulating tenascin-C level Abnormally increased concentration of tenascin-C in the blood circulation. hp0009lx5z 2020-09-03 11:21:59+00:00 Tenascin-C is a pro-inflammatory glycoprotein. The expression of tenascin-C in adults is limited to the site of tissue injury, usually temporary, and the expression level of tenascin-C returns to normal after tissue repair is completed. In contrast, the sustained high expression of tenascin-C is common in inflammation, tissue remodeling, and autoimmune diseases. Elevated serum tenascin-C may be associated with severity and poor prognosis in septic patients. peter owl:Class HP:0010647 biolink:NamedThing Abnormal elasticity of skin Any abnormal increase or reduction in skin elasticity. hp0009lx5z doelkens 2010-02-23T11:42:34Z UMLS:C4023760 human_phenotype owl:Class HP:0003696 biolink:NamedThing Absent epiphysis of the distal phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger. hp0009lx5z Absent end part of the outermost bone of the pinkie finger|Absent end part of the outermost bone of the little finger|Absent end part of the outermost bone of the pinky finger peter 2008-12-22T01:37:43Z UMLS:C4025577 human_phenotype owl:Class HP:0007657 biolink:NamedThing Diffuse nuclear cataract Opacity of the entire lens nucleus. hp0009lx5z UMLS:C4024821 human_phenotype owl:Class HP:0025367 biolink:NamedThing Trichoepithelioma A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age. hp0009lx5z 2017-02-20 14:24:28+00:00 HPO:probinson owl:Class HP:0012843 biolink:NamedThing Hair follicle neoplasm An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth. hp0009lx5z peter 2014-06-06T08:03:49Z UMLS:C0859920|NCIT:C3262|SNOMEDCT_US:44155009 human_phenotype owl:Class HP:0040177 biolink:NamedThing Abnormal level of platelet-activating factor hp0009lx5z Abnormal level of PAF HPO:skoehler UMLS:C4073142 owl:Class HP:0040176 biolink:NamedThing Abnormal circulating phospholipid concentration Any deviation from the normal concentration of a phospholipid in the blood circulation. hp0009lx5z Abnormal level of phospholipids HPO:skoehler UMLS:C4073141 owl:Class HP:0010621 biolink:NamedThing Cutaneous syndactyly of toes A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. hp0009lx5z Webbed skin of toes|Cutaneous syndactyly of feet|soft tissue syndactyly of toes doelkens 2009-11-18T10:32:21Z HP:0004707|HP:0001990|HP:0010555 UMLS:C1834737 human_phenotype owl:Class HP:0003137 biolink:NamedThing Prolinuria An increased concentration of proline in the urine. hp0009lx5z Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours. UMLS:C0268534|SNOMEDCT_US:53124003 human_phenotype owl:Class HP:0410202 biolink:NamedThing Positive stool barbiturate test Detection of barbiturate metabolites such as phenobarbital in the stool. hp0009lx5z 2018-07-20 23:04:11+00:00 owl:Class HP:0500097 biolink:NamedThing Stool xenobiotic Presence of xenobiotic in stool. hp0009lx5z 2018-05-21 13:42:31+00:00 owl:Class HP:0032930 biolink:NamedThing Lacunar halos around chondrocytes Concentric rings around the chondrocytes. hp0009lx5z See Figure 2 in PMID:8571951. peter owl:Class HP:0032929 biolink:NamedThing Abnormal chondrocyte morphology Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage. hp0009lx5z peter owl:Class HP:0030554 biolink:NamedThing Best corrected visual acuity 0.1 LogMAR hp0009lx5z UMLS:C4073027 owl:Class HP:0000217 biolink:NamedThing Xerostomia Dryness of the mouth due to salivary gland dysfunction. hp0009lx5z Dry mouth syndrome|Reduced salivation|Decreased salivary flow|Dry mouth HP:0100756|HP:0002709 SNOMEDCT_US:56893005|UMLS:C0043352|SNOMEDCT_US:87715008|SNOMEDCT_US:300268000|MSH:D014987 human_phenotype owl:Class HP:0100755 biolink:NamedThing Abnormality of salivation hp0009lx5z Abnormal spit|Abnormality of salivation doelkens 2011-06-07T10:01:04Z UMLS:C4021978 human_phenotype owl:Class HP:0011085 biolink:NamedThing Hypomature dental enamel A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. hp0009lx5z Soft teeth|Soft tooth enamel|Immature tooth enamel Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin. peter 2011-03-11T12:10:33Z UMLS:C4280266|UMLS:C4280336|UMLS:C4023540 human_phenotype owl:Class HP:0008482 biolink:NamedThing Asymmetry of spinal facet joints hp0009lx5z UMLS:C4024669 human_phenotype owl:Class HP:0030870 biolink:NamedThing Abnormality of spinal facet joint An anomaly of the small joints located between and behind adjacent vertebrae. hp0009lx5z Abnormality of apophyseal joint|Abnormality of Z-joint|Abnormality of zygapophyseal joint|Abnormality of zygapophysial joint The spinal facet joints represent a set of synovial, plane joints between the articular processes of each two adjacent vertebrae. Each pair of facet joints functions to guide and limit the movement of the corresponding spinal motion segment. UMLS:C4280735 owl:Class HP:0031459 biolink:NamedThing Soft tissue neoplasm A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. hp0009lx5z 2017-09-17 16:05:40+00:00 peter owl:Class HP:0200072 biolink:NamedThing Episodic quadriplegia Intermittent episodes of paralysis of all four limbs. hp0009lx5z Quadriplegia, episodic sebastiankohler 2013-05-31T04:27:32Z UMLS:C1863062 human_phenotype owl:Class HP:0002445 biolink:NamedThing Tetraplegia Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. hp0009lx5z Paralysis of all four limbs|Quadriplegia HP:0010552 SNOMEDCT_US:11538006|MSH:D011782|UMLS:C0034372 owl:Class HP:0031241 biolink:NamedThing Subfoveal choroidal neovascularization A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea. hp0009lx5z 2017-07-02 21:27:51+00:00 peter owl:Class HP:0100208 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 5th toe hp0009lx5z Increased bone density of end part of the outermost bone of the pinkie toe|Increased bone density of end part of the outermost bone of the pinky toe|Increased bone density of end part of the outermost bone of the little toe doelkens 2010-06-24T05:03:31Z UMLS:C4022213 human_phenotype owl:Class HP:0100083 biolink:NamedThing Ivory epiphyses of the 5th toe Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. hp0009lx5z Increased bone density of end part of the pinky toe bone|Increased bone density of end part of the pinkie toe bone|Increased bone density of end part of the little toe bone doelkens 2010-06-24T10:00:02Z UMLS:C4022338 human_phenotype owl:Class HP:0002625 biolink:NamedThing Deep venous thrombosis Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. hp0009lx5z Multiple deep venous thrombosis|Blood clot in a deep vein|Deep vein thrombosis UMLS:C0149871|MSH:D020246|SNOMEDCT_US:128053003 human_phenotype owl:Class HP:0004936 biolink:NamedThing Venous thrombosis Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. hp0009lx5z Blood clot in vein SNOMEDCT_US:111293003|UMLS:C0042487|MSH:D020246 human_phenotype owl:Class HP:0002929 biolink:NamedThing Leydig cell insensitivity to gonadotropin hp0009lx5z UMLS:C4025668 owl:Class HP:0031931 biolink:NamedThing Ocular flutter Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. hp0009lx5z 2018-07-04 20:01:21+00:00 peter owl:Class HP:0032104 biolink:NamedThing Saccadic oscillation An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade. hp0009lx5z Saccadic oscillations 2018-11-04 23:03:21+00:00 peter owl:Class HP:0005815 biolink:NamedThing Supernumerary ribs The presence of more than 12 rib pairs. hp0009lx5z Extra ribs HP:0000901 SNOMEDCT_US:205460009|UMLS:C0345397 owl:Class HP:0033487 biolink:NamedThing Glomerular basement membranes powdery deposit Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. hp0009lx5z Glomerular basement membranes with powdery deposit 2021-01-10 12:47:35+00:00 peter owl:Class HP:0009993 biolink:NamedThing Complete duplication of the proximal phalanx of the 5th finger Complete duplication of the fifth proximal phalanx of hand. hp0009lx5z Complete duplication of the innermost pinky finger bone|Complete duplication of the innermost little finger bone|Complete duplication of the innermost pinkie finger bone doelkens 2009-05-26T02:24:33Z UMLS:C4024124 human_phenotype owl:Class HP:0041191 biolink:NamedThing Fractured epiphysis of third metacarpal bone A partial or complete breakage of the epiphysis of third metacarpal bone. hp0009lx5z bone epiphysis of third metacarpal bone owl:Class HP:0010222 biolink:NamedThing Abnormality of the epiphysis of the 3rd metacarpal Any abnormality of the epiphysis of the third metacarpal bone. hp0009lx5z Abnormality of the end part of the 3rd long bone of hand doelkens 2009-07-02T04:10:28Z UMLS:C4023962 human_phenotype owl:Class HP:0012628 biolink:NamedThing Abnormal suspensory ligament of lens morphology An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. hp0009lx5z Ciliary zonule abnormality|Abnormality of the suspensory ligament of lens|Abnormality of zinn's membrane|Zonule of zinn abnormality peter 2014-01-17T10:59:37Z UMLS:C4021077 human_phenotype owl:Class HP:0100454 biolink:NamedThing Osteolytic defects of the middle phalanx of the 5th toe hp0009lx5z UMLS:C4022073 human_phenotype owl:Class HP:0033894 biolink:NamedThing Renal arteriolar intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. hp0009lx5z 2021-06-23 22:16:17+00:00 peter owl:Class HP:0033890 biolink:NamedThing Abnormal renal arteriole lumen morphology Abnormal structural characteristics of the interior space (lumen) of renal arterioles. hp0009lx5z 2021-06-23 22:09:47+00:00 peter owl:Class HP:0040202 biolink:NamedThing Abnormal consumption behavior hp0009lx5z Abnormal consumption behaviour UMLS:C4073150 owl:Class HP:0040226 biolink:NamedThing Decreased level of heparin co-factor II An abnormality of coagulation related to a decreased concentration of heparin co-factor II hp0009lx5z Heparin co-factor II deficiency Requested and created by members of the BRIDGE consortium UMLS:C4280717 owl:Class HP:0032082 biolink:NamedThing Translamellar mucoid extracellular matrix accumulation A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees. hp0009lx5z 2018-10-14 14:53:33+00:00 peter owl:Class HP:0200146 biolink:NamedThing Mucoid extracellular matrix accumulation An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.). hp0009lx5z Cystic medial necrosis of the aorta|MEMA MEMA replaces a variety of terms used in the past such as cystic medial necrosis, cystonecrosis, cystic degeneration, mucoid degeneration which, while generally understood by pathologists, are inaccurate. This histopathology can be subclassified and graded according to distribution, severity, and/or whether it crosses over multiple lamellar units as described. The grading should be reported as mild/moderate/severe and the distribution should be reported as focal, multifocal, or extensive. sebastiankohler 2013-06-13T12:55:22Z MSH:C536230|UMLS:C0392775|SNOMEDCT_US:42182000|SNOMEDCT_US:234021009|SNOMEDCT_US:45894003 human_phenotype owl:Class HP:0012587 biolink:NamedThing Macroscopic hematuria Hematuria that is visible upon inspection of the urine. hp0009lx5z Gross hematuria|Bloody urine peter 2014-01-16T03:31:44Z UMLS:C0473237|SNOMEDCT_US:197941005 human_phenotype owl:Class HP:0009722 biolink:NamedThing Dental enamel pits The presence of small depressions in the dental enamel. hp0009lx5z Dental enamel pitting|Pitting of tooth enamel|Dental enamel pits|Tooth enamel pits peter 2009-01-31T09:44:34Z UMLS:C1860711 human_phenotype owl:Class HP:0025075 biolink:NamedThing Increased QRS voltage Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm). hp0009lx5z 2016-09-26 10:48:06+00:00 HPO:probinson owl:Class HP:0025076 biolink:NamedThing Abnormal QRS voltage Abnormal amplitude of the QRS complex of the electrocardiogram (EKG). hp0009lx5z 2016-09-26 10:50:26+00:00 HPO:probinson owl:Class HP:0100644 biolink:NamedThing Melanonychia Brown or black discoloration of the nails. hp0009lx5z doelkens 2010-12-29T06:00:12Z UMLS:C1142305|SNOMEDCT_US:402633003|MEDDRA:10058330 human_phenotype owl:Class HP:0100643 biolink:NamedThing Abnormality of nail color An anomaly of the color of the nail. hp0009lx5z Abnormality of nail color|Abnormality of nail colour|Nail dyschromia doelkens 2010-12-29T05:59:15Z UMLS:C4020960 owl:Class HP:0033599 biolink:NamedThing Glomerular amyloid subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). hp0009lx5z 2021-01-30 14:44:51+00:00 peter owl:Class HP:0032976 biolink:NamedThing Elevated bronchoalveolar lavage fluid lymphocyte proportion Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases. hp0009lx5z peter owl:Class HP:0032974 biolink:NamedThing Abnormal cellular composition of bronchoalveolar fluid Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. hp0009lx5z Abnormal cell differential of broncho-alveolar fluid peter owl:Class HP:0004251 biolink:NamedThing Lunate-triquetral fusion Osseous fusion of the lunate and triquetrum. hp0009lx5z Lunotriquetral synostosis Synostosis of the carpal bones is a rare congenital condition. Lunate and triquetrum are the bones more commonly involved. UMLS:C1867930 human_phenotype owl:Class HP:0009966 biolink:NamedThing Complete duplication of the middle phalanx of the 3rd finger Complete duplication of the middle phalanx of middle finger. hp0009lx5z Complete duplication of the middle bone of the middle finger doelkens 2009-05-26T12:49:35Z UMLS:C4024140 human_phenotype owl:Class HP:0009960 biolink:NamedThing Complete duplication of the phalanges of the 3rd finger A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. hp0009lx5z Complete duplication of middle finger bones doelkens 2009-05-26T12:46:36Z UMLS:C4024143 human_phenotype owl:Class HP:0033654 biolink:NamedThing Beaded septum sign Irregular and nodular thickening of interlobular septa reminiscent of a row of beads. hp0009lx5z 2021-02-24 13:44:52+00:00 The beaded septum sign is frequently seen in lymphangitic spread of cancer and less often in sarcoidosis. See Figure 10 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0010428 biolink:NamedThing Partial duplication of phalanx of the 2nd toe Partial duplication of a phalanx of second toe. hp0009lx5z Partial duplication of 2nd toe bone doelkens 2009-07-16T04:07:33Z UMLS:C4023831 human_phenotype owl:Class HP:0031413 biolink:NamedThing Short telomere length An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. hp0009lx5z 2017-09-04 17:14:08+00:00 Telomeres are made of repeating TTAGGG/AATCCC units. The overall length of the telomere is over 10 kb at birth and progressively declines with age. peter owl:Class HP:0031412 biolink:NamedThing Abnormal telomere morphology hp0009lx5z 2017-09-04 15:24:23+00:00 peter owl:Class HP:0008866 biolink:NamedThing Failure to thrive secondary to recurrent infections Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections. hp0009lx5z Faltering weight secondary to recurrent infections|Weight faltering secondary to recurrent infections UMLS:C1832323 human_phenotype owl:Class HP:0410060 biolink:NamedThing Decreased level of D-mannose in urine A decrease in the level of D-mannose in the urine. hp0009lx5z 2018-01-29 22:01:57+00:00 D-Mannose is the 2-epimer of glucose. ORCID:0000-0001-5208-3432 owl:Class HP:0007470 biolink:NamedThing Periarticular subcutaneous nodules Subcutaneous nodules that are located in the vicinity of joints. hp0009lx5z UMLS:C3806306 human_phenotype owl:Class HP:0001482 biolink:NamedThing Subcutaneous nodule Slightly elevated lesions on or in the skin with a diameter of over 5 mm. hp0009lx5z Subcutaneous nodules|Growth of abnormal tissue under the skin|Firm lump under the skin|Multiple, subcutaneous nodules|Nodule below the skin Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. HP:0005903 SNOMEDCT_US:95325000|UMLS:C0151811|UMLS:C0746926 human_phenotype owl:Class HP:4000051 biolink:NamedThing Closed fracture A type of fracture in which the broken bone that does not penetrate the skin. hp0009lx5z 2021-05-02 20:55:09+00:00 robinp owl:Class HP:0100227 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 5th toe hp0009lx5z Enlarged end part of the innermost bone of the pinky toe|Enlarged end part of the innermost bone of the little toe|Enlarged end part of the innermost bone of the pinkie toe doelkens 2010-06-24T05:04:53Z UMLS:C4022194 human_phenotype owl:Class HP:0100099 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 5th toe hp0009lx5z Abnormality of the end part of the innermost bone of the pinky toe|Abnormality of the end part of the innermost bone of the little toe|Abnormality of the end part of the innermost bone of the pinkie toe doelkens 2010-06-24T10:02:41Z UMLS:C4022322 human_phenotype owl:Class HP:0012370 biolink:NamedThing Prominence of the zygomatic bone Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. hp0009lx5z Malar hypertrophy|Pronounced cheekbone|Cheekbone prominence|Zygomatic bone excess|Cheekbone excess|Prominence of cheekbone|Hyperplasia of cheekbone|Zygomatic hypertrophy|Hyperplasia of zygomatic bone peter 2013-10-13T02:50:15Z UMLS:C1997760|UMLS:C0375511|UMLS:C4082245|SNOMEDCT_US:427888001 human_phenotype owl:Class HP:0010668 biolink:NamedThing Abnormality of the zygomatic bone An abnormality of the zygomatic bone. hp0009lx5z Deformity of the cheekbone|Deformity of the zygomatic bone|Malformation of the zygomatic bone|Abnormality of the cheekbone|Anomaly of the zygomatic bone peter 2010-02-26T08:13:11Z UMLS:C4023749 human_phenotype owl:Class HP:0005242 biolink:NamedThing Extrahepatic biliary duct atresia Atresia in the extrahepatic bile duct. hp0009lx5z Biliary atresia, extrahepatic HP:0006553 MSH:D001656|UMLS:C0005411|SNOMEDCT_US:77480004|SNOMEDCT_US:82821008 human_phenotype owl:Class HP:0032961 biolink:NamedThing Magnesium ammonium phosphate crystalluria Magnesium ammonium phosphate crystals in the urine. hp0009lx5z Struvite urinary crystals peter owl:Class HP:0007132 biolink:NamedThing Pallidal degeneration Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. hp0009lx5z UMLS:C0393577|SNOMEDCT_US:230302004 human_phenotype owl:Class HP:0011945 biolink:NamedThing Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss. hp0009lx5z Bronchiolitis obliterans organising pneumonia|Cryptogenic organizing pneumonia|Cryptogenic organising pneumonia|BOOP peter 2012-06-18T07:55:41Z UMLS:C0242770|SNOMEDCT_US:129458007|MSH:D018549 human_phenotype owl:Class HP:0012444 biolink:NamedThing Brain atrophy Partial or complete wasting (loss) of brain tissue that was once present. hp0009lx5z Brain degeneration|Brain wasting peter 2013-11-23T02:46:15Z SNOMEDCT_US:418143002|UMLS:C0235946|UMLS:C0154671|SNOMEDCT_US:278849000|SNOMEDCT_US:52522001 human_phenotype owl:Class HP:0005312 biolink:NamedThing Pulmonary aterial intimal fibrosis Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation. hp0009lx5z Some causes of intimal fibrosis are hypertension, intimal fibroplasia, arterial atheroma, and CADASIL syndrome. UMLS:C4025217 human_phenotype owl:Class HP:0031794 biolink:NamedThing Decreased circulating glycerol level A decrease below the normal concentration of glycerol in the blood. hp0009lx5z 2018-02-25 14:13:06+00:00 peter owl:Class HP:0025597 biolink:NamedThing Inferior oblique muscle restriction Mechanical limitation of the range of movement of the inferior oblique muscle. hp0009lx5z 2018-01-13 21:15:59+00:00 In contrast to deficits produces by primary muscle weakness, extraocular muscle restriction cannot move passively any more than actively. HPO:probinson owl:Class HP:0025598 biolink:NamedThing Inferior oblique muscle weakness Decreased strength of the inferior oblique muscle. hp0009lx5z Inferior oblique palsy 2018-01-13 21:23:31+00:00 HPO:probinson owl:Class HP:0100216 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 5th toe hp0009lx5z Enlarged end part of the middle bone of the pinkie toe|Enlarged end part of the middle bone of the little toe|Enlarged end part of the middle bone of the pinky toe doelkens 2010-06-24T05:04:00Z UMLS:C4022205 human_phenotype owl:Class HP:0032857 biolink:NamedThing Focal aware motor seizure with negative myoclonus A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure. hp0009lx5z Focal motor aware seizure with negative myoclonus peter owl:Class HP:0032168 biolink:NamedThing Clostridium difficile colitis An infection of the colon (colitis) by clostridium difficile. hp0009lx5z 2018-12-09 14:28:28+00:00 peter owl:Class HP:0032166 biolink:NamedThing Unusual gastrointestinal infection hp0009lx5z Unusual GI infection 2018-12-09 14:21:56+00:00 peter owl:Class HP:0010368 biolink:NamedThing Abnormality of the distal phalanx of the 3rd toe hp0009lx5z Abnormality of the outermost bone of the 3rd toe doelkens 2009-07-16T11:51:17Z UMLS:C4023878 human_phenotype owl:Class HP:0007370 biolink:NamedThing Aplasia/Hypoplasia of the corpus callosum Absence or underdevelopment of the corpus callosum. hp0009lx5z Hypoplasia or absence of the corpus callosum|Hypoplastic or absent corpus callosum|Complete or partial absence of the corpus callosum|Agenesis/hypoplastic corpus callosum|Absent/hypoplastic corpus callosum peter 2008-04-01T10:35:00Z HP:0007137|HP:0007061|HP:0007003|HP:0007060 UMLS:C1861866 owl:Class HP:0033725 biolink:NamedThing Thin corpus callosum An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). hp0009lx5z Thinning of the corpus callosum|Small corpus callosum 2021-04-07 16:39:13+00:00 peter owl:Class HP:0012659 biolink:NamedThing Prefrontal hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan. hp0009lx5z Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the prefrontal cortex. peter 2014-02-15T11:33:12Z UMLS:C4022797 human_phenotype owl:Class HP:0012658 biolink:NamedThing Abnormal brain FDG positron emission tomography An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. hp0009lx5z Abnormal brain FDG PET scan peter 2014-02-15T11:29:38Z UMLS:C4022798 human_phenotype owl:Class HP:0030536 biolink:NamedThing Unaided visual acuity 0.1 LogMAR hp0009lx5z UMLS:C4073010 owl:Class HP:0033411 biolink:NamedThing Lower extremity akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities. hp0009lx5z 2021-01-09 16:29:00+00:00 Akinesia of the lower extremities peter owl:Class HP:0002304 biolink:NamedThing Akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. hp0009lx5z Akinesia is a typical extrapyramidal abnormality. SNOMEDCT_US:33994004|UMLS:C0085623 owl:Class HP:0033186 biolink:NamedThing Misalignment of the pulmonary veins The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins. hp0009lx5z 2020-10-04 11:50:58+00:00 peter owl:Class HP:0030968 biolink:NamedThing Abnormal pulmonary vein morphology An abnormality of the structure of the pulmonary veins. hp0009lx5z 2017-04-18 13:38:34+00:00 robinp Fyler:3000 owl:Class HP:0500154 biolink:NamedThing Hypoalaninemia A decreased amount of alanine in the blood. hp0009lx5z Decreased blood alanine concentration|Low blood alanine levels 2018-10-05 14:55:51+00:00 owl:Class HP:0010916 biolink:NamedThing Abnormal circulating alanine concentration An abnormality of an alanine metabolic process. hp0009lx5z Abnormality of alanine metabolism peter 2010-12-08T08:57:53Z UMLS:C4023654 human_phenotype owl:Class HP:0033152 biolink:NamedThing Abnormal pharynx physiology A functional anomaly of the pharynx. hp0009lx5z 2020-09-20 11:18:32+00:00 peter owl:Class HP:0100853 biolink:NamedThing Hypoplastic areola Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. hp0009lx5z Hypoplastic areolae doelkens 2011-11-30T09:41:44Z HP:0006609 UMLS:C3276032 human_phenotype owl:Class HP:0000912 biolink:NamedThing Sprengel anomaly A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). hp0009lx5z High shoulder blade|Congenital, upward displacement of the scapula|High scapula|Sprengel deformity Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible. HP:0006621 MEDDRA:10010455|UMLS:C0152438|SNOMEDCT_US:79120002|MSH:C535802 human_phenotype owl:Class HP:0009977 biolink:NamedThing Duplication of the proximal phalanx of the 4th finger Partial or complete duplication of the fourth proximal phalanx of hand. hp0009lx5z Partial/complete duplication of the proximal phalanx of the 4th finger|Duplication of the proximal bone of the ring finger doelkens 2009-05-26T02:20:08Z UMLS:C4021356 human_phenotype owl:Class HP:0010006 biolink:NamedThing Duplication of the proximal phalanx of hand This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. hp0009lx5z Partial/complete duplication of the proximal phalanges of the hand|Duplication of the innermost bones of hand doelkens 2009-05-26T05:29:46Z UMLS:C4021347 human_phenotype owl:Class HP:0500058 biolink:NamedThing Retinopathy of prematurity stage 5b A closed funnel detachment of the retina with generally traction in all four quadrants. hp0009lx5z ROP stage 5b 2018-02-19 19:16:26+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0002942 biolink:NamedThing Thoracic kyphosis Over curvature of the thoracic region, leading to a round back or if sever to a hump. hp0009lx5z Accentuated thoracic kyphosis|Exaggerated thoracic kyphosis UMLS:C1184919 human_phenotype owl:Class HP:0012162 biolink:NamedThing Common carotid artery dissection A separation (dissection) of the layers of the common carotid artery wall. hp0009lx5z peter 2013-02-16T07:34:14Z UMLS:C4023015 human_phenotype owl:Class HP:0012158 biolink:NamedThing Carotid artery dissection A separation (dissection) of the layers of the carotid artery wall. hp0009lx5z peter 2013-02-16T07:19:57Z UMLS:C0338585 human_phenotype owl:Class HP:0011699 biolink:NamedThing Atrial reentry tachycardia hp0009lx5z peter 2012-04-10T11:15:27Z UMLS:C4023223 human_phenotype owl:Class HP:0500076 biolink:NamedThing Alternating hypertropia A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards. hp0009lx5z 2018-02-26 19:13:10+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0025586 biolink:NamedThing Hypertropia A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. hp0009lx5z 2018-01-13 19:44:01+00:00 HPO:probinson owl:Class HP:0030851 biolink:NamedThing Low pulse pressure Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). hp0009lx5z UMLS:C4280743 owl:Class HP:0002220 biolink:NamedThing Melanin pigment aggregation in hair shafts hp0009lx5z UMLS:C1843390 owl:Class HP:0011071 biolink:NamedThing Abnormality of permanent molar morphology An abnormality of morphology of permanent molar. hp0009lx5z Abnormality of shape of adult molar|Abnormality of shape of permanent molar peter 2011-03-10T03:48:43Z UMLS:C4023552 human_phenotype owl:Class HP:0011070 biolink:NamedThing Abnormal molar morphology An abnormality of morphology of molar tooth. hp0009lx5z Abnormal shape of molar tooth|Abnormality of molar morphology peter 2011-03-10T03:45:51Z UMLS:C4023553 owl:Class HP:0012752 biolink:NamedThing Focal T2 hypointense basal ganglia lesion A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia. hp0009lx5z peter 2014-03-30T06:52:14Z UMLS:C4022744 human_phenotype owl:Class HP:0012751 biolink:NamedThing Abnormal basal ganglia MRI signal intensity A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. hp0009lx5z peter 2014-03-30T06:47:28Z UMLS:C4022745 human_phenotype owl:Class HP:0031943 biolink:NamedThing Akathisia A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria. hp0009lx5z 2018-07-05 13:57:19+00:00 peter owl:Class HP:0000711 biolink:NamedThing Restlessness A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress. hp0009lx5z Restlessness SNOMEDCT_US:162221009|UMLS:C3887611 human_phenotype owl:Class HP:0410274 biolink:NamedThing Paraspinal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine. hp0009lx5z 2018-10-30 02:21:30+00:00 owl:Class HP:0011475 biolink:NamedThing Persistent stapedial artery Persistence of the stapedial artery, which normally regresses during embryonic life. hp0009lx5z peter 2012-03-31T08:38:23Z UMLS:C4023339 human_phenotype owl:Class HP:0010794 biolink:NamedThing Impaired visuospatial constructive cognition Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). hp0009lx5z The ability to see an object or picture as a set of parts and then to construct a replica of the original from these parts is known as visuospatial constructive cognition. Impaired visuospatial constructive cognition is one of the characteristic featrues of most patients with Williams-Beuren Syndrome. sandra1 2010-05-10T01:43:01Z UMLS:C4023701 human_phenotype owl:Class HP:0030091 biolink:NamedThing Absent muscle fiber merosin Lack of merosin protein in the muscle biopsy. hp0009lx5z Absent muscle fibre laminin alpha 2|Absent muscle fibre merosin|Absent merosin staining in muscle biopsy|Absent muscle fiber laminin alpha 2 UMLS:C4021055 owl:Class HP:0033220 biolink:NamedThing 2-ethylhydracylic aciduria An increased concentration of 2-ethylhydracylic acid in the urine. hp0009lx5z Elevated urinary 2-methylbutyrylglycine|Elevated urinary 2-ethylhydracylic acid 2020-10-24 12:39:42+00:00 Isolated excretion of 2-ethylhydracrylic acid is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), a defect in the proximal pathway of L-isoleucine oxidation. peter owl:Class HP:0009348 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 3rd finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. hp0009lx5z Cone-shaped end part of the innermost bone of the middle finger doelkens 2009-01-12T11:19:03Z UMLS:C4024420 human_phenotype owl:Class HP:0007613 biolink:NamedThing Spinous keratoses of palms and soles hp0009lx5z UMLS:C4024830 human_phenotype owl:Class HP:0033543 biolink:NamedThing Nicotine addiction Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences. hp0009lx5z Nicotine dependence 2021-01-21 12:43:36+00:00 peter owl:Class HP:0100213 biolink:NamedThing Absent epiphysis of the middle phalanx of the 5th toe hp0009lx5z Absent end part of the middle bone of the pinkie toe|Absent end part of the middle bone of the little toe|Absent end part of the middle bone of the pinky toe doelkens 2010-06-24T05:04:00Z UMLS:C4022208 human_phenotype owl:Class HP:3000054 biolink:NamedThing Abnormality of inferior alveolar artery An abnormality of an inferior alveolar artery. hp0009lx5z vasilevs 2015-08-07T01:09:11Z UMLS:C4073262 human_phenotype owl:Class HP:0011470 biolink:NamedThing Nasogastric tube feeding in infancy Feeding problem necessitating nasogastric tube feeding. hp0009lx5z This is a severe form of feeding problems in infancy. peter 2012-03-25T07:53:46Z UMLS:C4023343 human_phenotype owl:Class HP:0033454 biolink:NamedThing Tube feeding Feeding problem necessitating food and nutrient delivery via a tube. hp0009lx5z 2021-01-09 21:48:41+00:00 peter owl:Class HP:0010445 biolink:NamedThing Primum atrial septal defect An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. hp0009lx5z Septum primum defect|Ostium primum atrial septal defect|Atrial septal defect, primum type|Primum atrioventricular canal defect peter 2009-09-14T09:59:38Z MSH:C548006|MSH:C536112|UMLS:C0741296|Fyler:1110|UMLS:C0344735|SNOMEDCT_US:253373002 human_phenotype owl:Class HP:0001211 biolink:NamedThing Abnormal fingertip morphology An abnormal structure of the tip (end) of a finger. hp0009lx5z Abnormality of the fingertips UMLS:C4025796 human_phenotype owl:Class HP:0003217 biolink:NamedThing Hyperglutaminemia An increased concentration of glutamine in the blood. hp0009lx5z High plasma glutamine Normal glutamine blood levels are around 550-600 micromole per liter. UMLS:C1839533 human_phenotype owl:Class HP:0010903 biolink:NamedThing Abnormal circulating glutamine concentration Any deviation from the normal concentration of glutamine in the blood circulation. hp0009lx5z Glutamine is a charge-neutral, polar amino acid. peter 2010-12-03T04:31:22Z UMLS:C4023663 human_phenotype owl:Class HP:0001848 biolink:NamedThing Calcaneovalgus deformity This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). hp0009lx5z Valgus position of the calcaneus|Calcaneovalgus|Foot and ankle bend up toward shin of leg|Calcaneovalgus Foot Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth. HP:0001774|HP:0008120 UMLS:C1860450 human_phenotype owl:Class HP:0008119 biolink:NamedThing Deformed tarsal bones hp0009lx5z Deformed ankle bones UMLS:C1856746 human_phenotype owl:Class HP:0031106 biolink:NamedThing T-shaped uterus An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging. hp0009lx5z 2017-05-30 02:53:49+00:00 peter owl:Class HP:0007605 biolink:NamedThing Excessive wrinkling of palmar skin hp0009lx5z Redundant, wrinkled skin of palms HP:0007531 UMLS:C4021572 human_phenotype owl:Class HP:0005546 biolink:NamedThing Increased red cell osmotic resistance hp0009lx5z UMLS:C1858628 human_phenotype owl:Class HP:0020054 biolink:NamedThing Abnormal erythrocyte physiology Any functional abnormality of erythrocytes (red-blood cells). hp0009lx5z 2018-09-28 23:39:07+00:00 robinp owl:Class HP:0000896 biolink:NamedThing Rib exostoses Multiple circumscribed bony excrescences located in the ribs. hp0009lx5z UMLS:C1835579 human_phenotype owl:Class HP:0005824 biolink:NamedThing Clinodactyly of the 2nd toe Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe). hp0009lx5z Clinodactyly of second toes|Curvature of 2nd toe UMLS:C4021620|UMLS:C4280473 human_phenotype owl:Class HP:0025400 biolink:NamedThing Nodular-random pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern. hp0009lx5z 2017-04-22 13:13:45+00:00 Miliary tuberculosis and miliary metastasis are two diseases entities that can be characterized by a ranom nodular pattern on pulmonary HRCT. HPO:probinson owl:Class HP:0025392 biolink:NamedThing Nodular pattern on pulmonary HRCT A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. hp0009lx5z 2017-04-22 12:59:43+00:00 HPO:probinson owl:Class HP:0008318 biolink:NamedThing Elevated leukocyte alkaline phosphatase Increased alkaline phosphatase measured within leukocytes. hp0009lx5z Elevated leukocyte ALP UMLS:C4024704 owl:Class HP:0003155 biolink:NamedThing Elevated circulating alkaline phosphatase concentration Abnormally increased serum levels of alkaline phosphatase activity. hp0009lx5z Greatly elevated alkaline phosphatase|Hyperphosphatasemia|Elevated alkaline phosphatase|Increased alkaline phosphatase|Hyperphosphatasia|High serum alkaline phosphatase|Elevated ALP|Increased serum alkaline phosphatase HP:0008296|HP:0002911|HP:0003636 UMLS:C0750857 owl:Class HP:0100206 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 5th toe hp0009lx5z Fragmentation of the end part of the outermost bone of the pinkie toe|Fragmentation of the end part of the outermost bone of the pinky toe|Fragmentation of the end part of the outermost bone of the little toe doelkens 2010-06-24T05:03:31Z UMLS:C4022215 human_phenotype owl:Class HP:0011447 biolink:NamedThing Hyposegmentation of neutrophil nuclei Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. hp0009lx5z Pelger-Huet anomaly|Hyposegmentation of neutrophil nuclei in peripheral blood Hyposegmented cells are neutrophils with fewer than three nuclear lobes. peter 2012-03-18T04:44:22Z UMLS:C0030779|UMLS:C4023351|SNOMEDCT_US:85559002|MSH:D010381 human_phenotype owl:Class HP:0011992 biolink:NamedThing Abnormality of neutrophil morphology An abnormal form or size of neutrophils. hp0009lx5z peter 2012-07-19T11:00:27Z UMLS:C4023091 human_phenotype owl:Class HP:0008396 biolink:NamedThing Chronic monilial nail infection Chronic infection of the nails by Candida species. hp0009lx5z UMLS:C4024683 owl:Class HP:0033929 biolink:NamedThing Arcuate artery endoarterial neutrophil hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. hp0009lx5z Endoarterial hypercellularity within arcuate artery consisting of neutrophils 2021-06-24 01:14:58+00:00 peter owl:Class HP:0033927 biolink:NamedThing Arcuate artery endoarterial leukocyte hypercellularity Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). hp0009lx5z Endoarterial hypercellularity within arcuate artery consisting of leukocytes 2021-06-24 01:12:13+00:00 peter owl:Class HP:0005343 biolink:NamedThing Hypoplasia of the bladder Underdevelopment of the urinary bladder. hp0009lx5z Underdeveloped bladder|Hypoplastic bladder HP:0005342 UMLS:C1855335 human_phenotype owl:Class HP:0010476 biolink:NamedThing Aplasia/Hypoplasia of the bladder Absence or underdevelopment of the urinary bladder. hp0009lx5z Absent/small bladder|Absent/underdeveloped bladder peter 2009-09-15T10:09:48Z UMLS:C4023813 human_phenotype owl:Class HP:0009629 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the thumb This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Absent/underdeveloped innermost thumb bone|Absent/small innermost thumb bone doelkens 2009-01-29T05:09:41Z UMLS:C4024268 human_phenotype owl:Class HP:0003952 biolink:NamedThing Sclerotic foci of metaphyses of the elbow hp0009lx5z Vertical linear mixed lucent and sclerotic pattern of metaphyses UMLS:C4021702 human_phenotype owl:Class HP:0003949 biolink:NamedThing Abnormality of the elbow metaphyses hp0009lx5z Abnormal wide portion of elbow bone UMLS:C4025485 human_phenotype owl:Class HP:0006437 biolink:NamedThing Disproportionate prominence of the femoral medial condyle hp0009lx5z UMLS:C1834392 owl:Class HP:0010019 biolink:NamedThing Fragmentation of the epiphysis of the 1st metacarpal Epiphysis of the 1st metacarpal having multiple bony fragments. hp0009lx5z Fragmentation of the end part of the 1st long bone of hand doelkens 2009-05-27T04:02:50Z UMLS:C4024104 human_phenotype owl:Class HP:0030442 biolink:NamedThing Anal margin squamous cell carcinoma A squamous cell carcinoma that originates in the skin of the anal margin. hp0009lx5z Clinical presentations include pain, bleeding, palpable lump, and discharge. Typically, SCC of the anal margin appears as an ulcerated lesion with rolled everted edges. A significant number of patients are misdiagnosed with an anal fissure, fistula, eczema, or hemorrhoids; therefore a biopsy is recommended for any persistent anal margin lesion not responding to conservative therapy. UMLS:C1412037|SNOMEDCT_US:255084004 owl:Class HP:0009783 biolink:NamedThing Biceps aplasia Absence of the biceps muscle. hp0009lx5z Absent biceps peter 2009-02-03T04:57:47Z UMLS:C3805764 human_phenotype owl:Class HP:0009782 biolink:NamedThing Aplasia/Hypoplasia of the biceps Absence or underdevelopment of the biceps muscle. hp0009lx5z Absent/small biceps|Absent/underdeveloped biceps peter 2009-02-03T04:52:01Z UMLS:C4024209 human_phenotype owl:Class HP:0009452 biolink:NamedThing Curved proximal phalanx of the 3rd finger Curved appearance of the proximal phalanx of the 3rd finger. hp0009lx5z Curved innermost bone of middle finger doelkens 2009-01-14T04:33:41Z UMLS:C4024353 human_phenotype owl:Class HP:0025079 biolink:NamedThing Pancreatic abscess A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas. hp0009lx5z Pancreas abscess 2016-09-26 11:01:28+00:00 HPO:probinson owl:Class HP:0100504 biolink:NamedThing Low levels of vitamin B2 A reduced concentration of vitamin B2. hp0009lx5z Riboflavin deficiency|Vitamin B2 deficiency doelkens 2010-12-17T06:13:04Z SNOMEDCT_US:20307000|MSH:D012257|UMLS:C0035528 human_phenotype owl:Class HP:0025082 biolink:NamedThing Abnormal cutaneous elastic fiber morphology Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils. hp0009lx5z Abnormal cutaneous elastic fibre morphology 2016-10-15 12:16:20+00:00 Elastic fibers help the skin return to its normal configuration after being stretched or deformed. The elastic fibers consist of two components: microfibrils and matrix elastin. The microfibrillar component amounts to only 15% of the elastic fiber, whereas the amorphous, electron-lucid elastin makes up 85% of the fiber. In light microscope sections that are routinely stained, elastic fibers are inconspicuous. With special elastic tissue stains, such as orcein or resorcin-fuchisin, or in plastic-embedded sections they are found entwined among the collagen bundles [PMID:21738362]. HPO:probinson owl:Class HP:0032810 biolink:NamedThing Focal sensory seizure with cephalic sensation A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation. hp0009lx5z Partial seizure with cephalic sensation|Focal seizure with cephalic sensation|Cephalic aura peter owl:Class HP:0001981 biolink:NamedThing Schistocytosis The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. hp0009lx5z Schistocytes SNOMEDCT_US:385472000|UMLS:C0344386 human_phenotype owl:Class HP:0032815 biolink:NamedThing Neonatal electro-clinical myoclonic seizure Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). hp0009lx5z Neonatal electroclinical myoclonic seizure Clinically difficult to differentiate from non-epileptic myoclonus. peter owl:Class HP:0100639 biolink:NamedThing Erectile dysfunction A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. hp0009lx5z Abnormal erection|Erectile abnormalities doelkens 2010-12-29T05:45:28Z owl:Class HP:0030394 biolink:NamedThing Fallopian tube carcinoma Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk. hp0009lx5z SNOMEDCT_US:276870001|MSH:D005185|UMLS:C0238122 owl:Class HP:0410321 biolink:NamedThing Animal dander allergy Hypersensitivity in form of an adverse immune reaction against animal dander. hp0009lx5z Allergy to animal dander|Immunoglobulin E-mediated animal dander allergy|Animal dander allergy|IgE-mediated animal dander allergy owl:Class HP:0410320 biolink:NamedThing Animal protein allergy Hypersensitivity in form of an adverse immune reaction against animal proteins. hp0009lx5z Animal protein allergy|IgE-mediated animal protein allergy|Allergy to animal proteins|Immunoglobulin E-mediated animal protein allergy owl:Class HP:0012276 biolink:NamedThing Digital flexor tenosynovitis Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit. hp0009lx5z Trigger finger Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly. peter 2013-04-07T03:02:33Z UMLS:C4022974 human_phenotype owl:Class HP:0010065 biolink:NamedThing Triangular shaped phalanges of the hallux hp0009lx5z Triangular shaped bones of big toe doelkens 2009-05-29T12:10:46Z UMLS:C4024077 human_phenotype owl:Class HP:0002448 biolink:NamedThing Progressive encephalopathy hp0009lx5z Progressive brain disease UMLS:C4280575|UMLS:C1838578 human_phenotype owl:Class HP:0009271 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 4th finger A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. hp0009lx5z Triangular end part of the innermost bone of ring finger|Delta-shaped epiphysis of the proximal phalanx of the 4th finger doelkens 2009-01-07T12:12:59Z UMLS:C4021505 human_phenotype owl:Class HP:0040272 biolink:NamedThing Hyperintensity of MRI T2 signal of the spinal cord A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. hp0009lx5z Seen in a wide-ranging variety of spinal cord processes including; simple MR artefacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. UMLS:C4280684 owl:Class HP:0025623 biolink:NamedThing Abnormal proportion of CD4+ effector memory cells An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z Abnormal proportion of effector memory CD4-positive, alpha-beta T cells|Abnormal proportion of CD4-positive effector memory cells 2019-04-09 00:11:24+00:00 HPO:probinson HP:0410382 owl:Class HP:0032738 biolink:NamedThing Focal aware emotional seizure with fear/anxiety/panic Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout. hp0009lx5z peter owl:Class HP:0006646 biolink:NamedThing Costal cartilage calcification Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. hp0009lx5z Cartilaginous ossification of rib HP:0006662 UMLS:C1855608 human_phenotype owl:Class HP:0100466 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 5th toe Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Uneven increase in bone density in the innermost bone of the little toe|Uneven increase in bone density in the innermost bone of the pinky toe|Uneven increase in bone density in the innermost bone of the pinkie toe UMLS:C4022061 human_phenotype owl:Class HP:0100934 biolink:NamedThing Sclerosis of the proximal phalanx of the 5th toe hp0009lx5z Increased bone density in the innermost bone of the little toe|Increased bone density in the innermost bone of the pinky toe|Increased bone density in the innermost bone of the pinkie toe UMLS:C4021924 human_phenotype owl:Class HP:0008633 biolink:NamedThing Agonadism Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). hp0009lx5z Absent gonadal tissue|Gonadal agenesis Gonadal agenesis refers to the lack of development of gonads during fetal development; it may not be possible clinically to determine if gonal tissue was present at any point of development. For this reason, we regard agonadism and gonadal agenesis as synonymous. UMLS:C4024652 owl:Class HP:0001872 biolink:NamedThing Abnormal thrombocyte morphology An abnormality of platelets. hp0009lx5z Platelet abnormalities|Thrombasthenia|Blood platelet disease Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. HP:0004807|HP:0005554 UMLS:C0040015|UMLS:C0151854|UMLS:C4020863|SNOMEDCT_US:127566005|SNOMEDCT_US:32942005|MSH:D013915 human_phenotype owl:Class HP:0009312 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 4th finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger. hp0009lx5z doelkens 2009-01-08T05:11:48Z HP:0004202 UMLS:C4024450 human_phenotype owl:Class HP:0012113 biolink:NamedThing Abnormal circulating creatine concentration A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells. hp0009lx5z Creatine metabolism abnormal|Abnormality of creatine metabolism hecht 2012-09-16T04:29:41Z UMLS:C4020731 human_phenotype owl:Class HP:0009523 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 2nd finger hp0009lx5z Triangular end part of the middle bone of the index finger doelkens 2009-01-16T01:12:17Z UMLS:C4024310 human_phenotype owl:Class HP:0011181 biolink:NamedThing Low voltage EEG EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz). hp0009lx5z A low voltage EEG is a rare finding but not generally pathologic. hecht 2011-11-19T10:27:20Z UMLS:C1851759 human_phenotype owl:Class HP:0032939 biolink:NamedThing Physiological reactivity to cues Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s). hp0009lx5z peter owl:Class HP:0032936 biolink:NamedThing Intrusion symptom Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context. hp0009lx5z Re-experiencing symptom Vivid intrusive memories, flashbacks, or nightmares, typically accompanied by strong and overwhelming emotions such as fear or horror, and strong physical sensations. peter owl:Class HP:0003902 biolink:NamedThing Epiphyseal stippling of the humerus The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis. hp0009lx5z Stippled ossification of the humeral epiphyses UMLS:C4021711 human_phenotype owl:Class HP:0012496 biolink:NamedThing Reduced maximal inspiratory pressure A decrease in the maximum amount of negative pressure a person can generate during an inhalation. hp0009lx5z peter 2013-11-30T08:24:33Z UMLS:C4022880 human_phenotype owl:Class HP:0032679 biolink:NamedThing Focal non-motor seizure A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. hp0009lx5z Focal seizure without motor onset|Partial seizure without motor onset Non-motor terms correspond to the earliest prominent sign or symptom. peter owl:Class HP:0040329 biolink:NamedThing Multifocal hyperintensity of cerebral white matter on MRI An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas. hp0009lx5z ORCID:0000-0002-5316-1399 owl:Class HP:0033553 biolink:NamedThing Septic embolism Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system. hp0009lx5z Septic emboli 2021-01-22 12:51:18+00:00 peter owl:Class HP:0032725 biolink:NamedThing Focal impaired awareness clonic seizure A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure. hp0009lx5z peter owl:Class HP:0002725 biolink:NamedThing Systemic lupus erythematosus A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. hp0009lx5z SLE This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. SNOMEDCT_US:55464009|UMLS:C0024141|MSH:D008180 human_phenotype owl:Class HP:0010277 biolink:NamedThing Stippling of the epiphyses of the proximal phalanges of the hand hp0009lx5z Speckled calcifications in the end part of the innermost hand bones doelkens 2009-07-06T04:25:12Z UMLS:C4023924 human_phenotype owl:Class HP:0002322 biolink:NamedThing Resting tremor A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. hp0009lx5z Rest tremor|Parkinsonian tremor|Resting tremor|Tremor at rest Resting tremor vanishes with active movement, but typically reappears after a few seconds when the arms are held outstretched (reemergent tremor). In Parkinson disease, rest tremor frequency is usually in the low to mid-range (3-6 Hz), and the amplitude is quite variable, from less than 1 cm to over 10 cm in width. MSH:D014202|UMLS:C0234379|SNOMEDCT_US:25082004 human_phenotype owl:Class HP:0004342 biolink:NamedThing Abnormality of galactoside metabolism Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose. hp0009lx5z peter 2008-03-08T08:33:00Z UMLS:C4025351 human_phenotype owl:Class HP:0003649 biolink:NamedThing Abnormality of glycoside metabolism Abnormality of glycoside metabolism. hp0009lx5z Glycosides are molecules with a suger moiety bound to some other moiety. peter 2008-03-08T08:32:00Z UMLS:C4025584 human_phenotype owl:Class HP:0100861 biolink:NamedThing Sclerotic vertebral body Increase in bone density of the vertebral body. hp0009lx5z Vertebral body sclerosis doelkens 2011-11-30T10:12:34Z HP:0004578 UMLS:C4021951 human_phenotype owl:Class HP:0100218 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 5th toe hp0009lx5z Irregular end part of the middle bone of the little toe|Irregular end part of the middle bone of the pinky toe|Irregular end part of the middle bone of the pinkie toe doelkens 2010-06-24T05:04:00Z UMLS:C4022203 human_phenotype owl:Class HP:0004017 biolink:NamedThing Exostoses of the radial metaphysis hp0009lx5z UMLS:C4025442 human_phenotype owl:Class HP:0011052 biolink:NamedThing Agenesis of maxillary premolar Agenesis of maxillary premolar. hp0009lx5z Failure of development of maxillary premolar|Agenesis of maxillary bicuspid|Absence of maxillary premolar|Missing upper bicuspid|Absence of maxillary bicuspid|Failure of development of maxillary bicuspid|Missing upper premolar|Absence of upper premolar|Missing maxillary premolar Note that premolar teeth occur only in the permanent dentition. peter 2011-03-10T11:39:06Z UMLS:C4280350|UMLS:C4023565 human_phenotype owl:Class HP:0011051 biolink:NamedThing Agenesis of premolar Agenesis of premolar tooth. hp0009lx5z Missing bicuspid|Absence of bicuspid|Failure of development of premolar|Agenesis of bicuspid|Failure of development of bicuspid|Missing premolar|Absence of premolar Note that premolar teeth occur only in the permanent dentition. peter 2011-03-10T11:36:44Z UMLS:C4023566|UMLS:C4280351 human_phenotype owl:Class HP:0033769 biolink:NamedThing Fundic gland polyposis Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps. hp0009lx5z Gastric polyposis|Proximal polyposis of the stomach|Fundic gland polyps 2021-04-30 13:21:07+00:00 peter owl:Class HP:0006753 biolink:NamedThing Neoplasm of the stomach A tumor (abnormal growth of tissue) of the stomach. hp0009lx5z Stomach tumor|Stomach tumour|Neoplasia of the stomach MSH:D013274|NCIT:C3262|SNOMEDCT_US:126824007|UMLS:C0038356|UMLS:C4020813 human_phenotype owl:Class HP:0002766 biolink:NamedThing Relatively short spine hp0009lx5z Relatively short spine UMLS:C3277114 human_phenotype owl:Class HP:0100111 biolink:NamedThing Absent epiphysis of the middle phalanx of the 2nd toe hp0009lx5z Absent end part of the middle bone of the 2nd toe doelkens 2010-06-24T10:05:37Z UMLS:C4022310 human_phenotype owl:Class HP:0010906 biolink:NamedThing Hyperhistidinemia An increased concentration of histidine in the blood. hp0009lx5z High blood histidine level|Histidinemia Blood histidine levels over 500 micromole per liter. Normal blood histidine levels are around 80-90 micromole per liter. peter 2010-12-08T07:27:47Z MSH:C538320|UMLS:C0220992|SNOMEDCT_US:124628005|SNOMEDCT_US:410058007 human_phenotype owl:Class HP:0004395 biolink:NamedThing Malnutrition A deficiency in the intake of energy and nutrients. hp0009lx5z Malnutrition peter 2008-03-18T09:12:00Z UMLS:C0162429|SNOMEDCT_US:70241007|MSH:D044342|SNOMEDCT_US:248325000|SNOMEDCT_US:2492009|SNOMEDCT_US:47563007|SNOMEDCT_US:65404009 owl:Class HP:0033622 biolink:NamedThing Migratory erythematous plaque A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin. hp0009lx5z 2021-01-30 23:00:04+00:00 peter owl:Class HP:0009947 biolink:NamedThing Duplication of the proximal phalanx of the 2nd finger Partial or complete duplication of the second proximal phalanx of hand. hp0009lx5z Partial/complete duplication of the proximal phalanx of the 2nd finger|Duplication of the proximal bones of the index finger doelkens 2009-05-15T01:58:58Z UMLS:C4021368 human_phenotype owl:Class HP:0012303 biolink:NamedThing Abnormal aortic arch morphology An anomaly of the arch of aorta. hp0009lx5z Abnormality of the aortic arch peter 2013-08-06T10:06:07Z SNOMEDCT_US:448742006|UMLS:C3163801|Fyler:2700 human_phenotype owl:Class HP:0012156 biolink:NamedThing Hemophagocytosis Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. hp0009lx5z Hemophagocytosis is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process). peter 2013-01-07T10:11:21Z SNOMEDCT_US:61070002|UMLS:C0876991 human_phenotype owl:Class HP:0010046 biolink:NamedThing Aplasia of the 5th metacarpal Absence of the fifth long bone of the hand. hp0009lx5z Absent 5th long bone of hand|Absent 5th metacarpal doelkens 2009-05-27T04:37:44Z HP:0006103 UMLS:C1867929 human_phenotype owl:Class HP:0010048 biolink:NamedThing Aplasia of metacarpal bones Developmental defect associated with absence of one or more metacarpal bones. hp0009lx5z Absent long bone of hand|Absent metacarpals|Absent metacarpal doelkens 2009-05-27T04:40:58Z HP:0005911 UMLS:C1846473 human_phenotype owl:Class HP:0032656 biolink:NamedThing Febrile status epilepticus A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult. hp0009lx5z Fever-induced status epilepticus Some but not all cases of Febrile Infection-related Epilepsy Syndrome (FIRES) may meet this definition; however, in many cases of FIRES the individual will no longer be febrile at the time of the seizure onset. peter owl:Class HP:0010646 biolink:NamedThing Cervical spine instability An abnormal lack of stability of the cervical spine. hp0009lx5z The cervical spine is made up of two anatomically and functionally distinct segments: the upper cervical spine (C1and C2), which possesses the most rotational mobility with some degrees of frontal and sagittal plane mobility, and the lower cervical spine, which allows for two types of movements - flexion-extension and inclination-rotation. Cervical instability mainly involves the upper cervical spine, particularly between C1 and C2. Craniocervical ligaments are the main determinants of cervical spine stability. doelkens 2010-02-23T11:15:32Z UMLS:C0410652|SNOMEDCT_US:202821008 owl:Class HP:0003319 biolink:NamedThing Abnormality of the cervical spine Any abnormality of the cervical vertebral column. hp0009lx5z Cervical vertebral anomalies|Abnormal cervical spine|Cervical vertebral abnormalities|Cervical spine abnormalities|Abnormality of cervical vertebra|Disorder of cervical vertebra|Abnormality of the cervical vertebrae HP:0004587 UMLS:C1852464 owl:Class HP:0003160 biolink:NamedThing Abnormal isoelectric focusing of serum transferrin Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. hp0009lx5z Abnormal isoelectric focusing of serum transferrin|Abnormal transferrin isoelectric focusing Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin. UMLS:C2749688 human_phenotype owl:Class HP:0030015 biolink:NamedThing Female anorgasmia The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal. hp0009lx5z Female orgasmic disorder SNOMEDCT_US:60103007|UMLS:C4022677|UMLS:C0033948 owl:Class HP:0046502 biolink:NamedThing Anorgasmia Inability of individual to reach orgasm. hp0009lx5z owl:Class HP:0007546 biolink:NamedThing Linear hyperpigmentation hp0009lx5z UMLS:C3278658 human_phenotype owl:Class HP:0002223 biolink:NamedThing Absent eyebrow Absence of the eyebrow. hp0009lx5z Failure of development of eyebrows|Absent eyebrow|Agenesis of eyebrows|Missing eyebrows|Aplasia of eyebrows|Loss of eyebrows|Absent eyebrows UMLS:C0578682|SNOMEDCT_US:422441003|SNOMEDCT_US:253208007|UMLS:C4280582|UMLS:C4280581|UMLS:C0431448 human_phenotype owl:Class HP:0100840 biolink:NamedThing Aplasia/Hypoplasia of the eyebrow Absence or underdevelopment of the eyebrow. hp0009lx5z Sparse to absent eyebrows|Lack of eyebrow|Missing eyebrow|Sparse or absent eyebrows|Agenesis of eyebrow|Hypotrophic eyebrow|Sparse/absent eyebrows|Absence of eyebrow doelkens 2011-06-09T06:40:51Z UMLS:C2266639|UMLS:C3551430|UMLS:C4021956|UMLS:C1848765 human_phenotype owl:Class HP:0009007 biolink:NamedThing Biceps hypoplasia Underdevelopment of the biceps muscle. hp0009lx5z Hypoplastic biceps|Underdeveloped biceps UMLS:C1862499 human_phenotype owl:Class HP:0033204 biolink:NamedThing Triceps hyperreflexia Increased intensity of the triceps reflex. hp0009lx5z 2020-10-11 14:37:10+00:00 peter owl:Class HP:0007350 biolink:NamedThing Hyperreflexia in upper limbs hp0009lx5z UMLS:C1843175 human_phenotype owl:Class HP:0010923 biolink:NamedThing Anterior subcapsular cataract A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. hp0009lx5z peter 2010-12-12T12:51:55Z SNOMEDCT_US:315352000|UMLS:C1112768 human_phenotype owl:Class HP:0000523 biolink:NamedThing Subcapsular cataract A cataract that affects the region of the lens directly beneath the capsule of the lens. hp0009lx5z Subcapsular opacities|Subcapsular lenticular cataracts|Subcapsular cataracts HP:0001490|HP:0007978 UMLS:C0235259|SNOMEDCT_US:95723009 human_phenotype owl:Class HP:0100037 biolink:NamedThing Abnormality of the scalp hair An abnormality of the hair of head. hp0009lx5z Abnormality of the scalp hair doelkens 2010-06-22T05:29:31Z UMLS:C4022384 owl:Class HP:0031703 biolink:NamedThing Abnormal ear morphology Any structural anomaly of the ear. hp0009lx5z 2017-12-18 00:20:14+00:00 peter Fyler:4867 owl:Class HP:0025382 biolink:NamedThing Hypodipsia Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake. hp0009lx5z 2017-04-20 11:10:08+00:00 HPO:probinson owl:Class HP:0003100 biolink:NamedThing Slender long bone Reduced diameter of a long bone. hp0009lx5z Thin gracile long bones|Slender, gracile long tubular bones|Slender long bone|Long bones slender|Thin, gracile long bones|Slender long bones|Thin long bones|Gracile long bones HP:0003061|HP:0003096|HP:0003060|HP:0005064 UMLS:C1833144 human_phenotype owl:Class HP:0008142 biolink:NamedThing Delayed calcaneal ossification Delayed maturation and calcification of the calcaneus. hp0009lx5z Delayed heel bone maturation UMLS:C4024728|UMLS:C4280414 human_phenotype owl:Class HP:0008364 biolink:NamedThing Abnormality of the calcaneus An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. hp0009lx5z Abnormal heel bone peter 2008-04-04T11:38:00Z UMLS:C4024689 human_phenotype owl:Class HP:0025369 biolink:NamedThing Thick growth plates Increased thickness (dimension along the axis of the bone) of the growth plate. hp0009lx5z 2017-02-20 14:40:12+00:00 HPO:probinson owl:Class HP:0025368 biolink:NamedThing Abnormality of growth plate morphology A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone). hp0009lx5z 2017-02-20 14:32:08+00:00 HPO:probinson owl:Class HP:0009653 biolink:NamedThing Curved thumb phalanx A deviation from the normal straight shape of a thumb phalanx. hp0009lx5z Curved phalanges of the thumb|Curved thumb bone doelkens 2009-01-29T05:29:26Z UMLS:C4021414 human_phenotype owl:Class HP:0100262 biolink:NamedThing Synostosis involving digits hp0009lx5z Fusion involving digits doelkens 2010-07-20T02:58:46Z UMLS:C4022178 human_phenotype owl:Class HP:0002333 biolink:NamedThing Motor deterioration Loss of previously present motor (i.e., movement) abilities. hp0009lx5z Progressive degeneration of movement UMLS:C1866284 owl:Class HP:0001268 biolink:NamedThing Mental deterioration Loss of previously present mental abilities, generally in adults. hp0009lx5z Mental deterioration|Cognitive decline, progressive|Progressive cognitive decline|Intellectual deterioration|Cognitive decline HP:0007155|HP:0007253|HP:0002303|HP:0006822|HP:0007264|HP:0007298 MSH:D060825|UMLS:C0234985 human_phenotype owl:Class HP:0009767 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the hand Small or missing phalangeal bones of the fingers of the hand. hp0009lx5z Aplastic/hypoplastic phalanges|Aplastic/hypoplastic phalanges of the hand|Hypoplastic/absent phalanges doelkens 2009-02-02T11:38:04Z HP:0006056|HP:0009801|HP:0006100 UMLS:C1848670 human_phenotype owl:Class HP:0000572 biolink:NamedThing Visual loss Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). hp0009lx5z Visual loss|Loss of vision|Vision loss UMLS:C3665386|SNOMEDCT_US:7973008 owl:Class HP:0008131 biolink:NamedThing Tarsal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. hp0009lx5z Punctate calcifications of tarsals|Punctate tarsal calcification UMLS:C1844848 human_phenotype owl:Class HP:0031051 biolink:NamedThing Tarsal sclerosis An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z 2017-05-27 14:41:39+00:00 peter owl:Class HP:0012271 biolink:NamedThing Episodic upper airway obstruction Intermittent episodes of increased resistance to the passage of air in the upper airway. hp0009lx5z peter 2013-04-07T02:08:33Z UMLS:C4022978 human_phenotype owl:Class HP:0002781 biolink:NamedThing Upper airway obstruction Increased resistance to the passage of air in the upper airway. hp0009lx5z Upper airway obstruction UMLS:C0740852 human_phenotype owl:Class HP:0033981 biolink:NamedThing Vertebral artery tortuosity Abnormal tortuous (i.e., twisted) form of the vertebral arteries. hp0009lx5z Tortuous vertebral arteries 2021-07-15 11:39:56+00:00 peter owl:Class HP:0025331 biolink:NamedThing Upgaze palsy A limitation of the ability to direct one's gaze above the horizontal meridian. hp0009lx5z Supranuclear upgaze palsy|Upgaze paresis 2017-02-11 11:54:20+00:00 HPO:probinson owl:Class HP:0000511 biolink:NamedThing Vertical supranuclear gaze palsy A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. hp0009lx5z Vertical gaze palsy Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze. SNOMEDCT_US:246773002|UMLS:C0339652|UMLS:C1843369 human_phenotype owl:Class HP:0010331 biolink:NamedThing Aplasia/Hypoplasia of the 3rd toe hp0009lx5z Absent/small 3rd toe|Absent/underdeveloped 3rd toe|Absent/hypoplastic third toe doelkens 2009-07-16T11:40:52Z HP:0008100 UMLS:C1862698 human_phenotype owl:Class HP:0004598 biolink:NamedThing Supernumerary vertebral ossification centers Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. hp0009lx5z Supernumerary vertebral ossification centres UMLS:C4025309 human_phenotype owl:Class HP:0009779 biolink:NamedThing 3-4 toe syndactyly Syndactyly with fusion of toes three and four. hp0009lx5z Webbed 3rd-4th toes|syndactyly of 3rd - 4th toes peter 2009-02-03T04:43:16Z HP:0004708 UMLS:C1834062 human_phenotype owl:Class HP:0025338 biolink:NamedThing Circumlimbal hyperemia A ring of redness at the limbus of the eye, the border between the cornea and the sclera. hp0009lx5z Circumlimbal hyperaemia|Ciliary limbus 2017-02-12 12:32:14+00:00 HPO:probinson owl:Class HP:0030953 biolink:NamedThing Conjunctival hyperemia Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. hp0009lx5z Conjunctival vascular congestion|Conjunctival injection|Conjunctival hyperaemia 2017-01-13 22:41:03+00:00 robinp owl:Class HP:0032970 biolink:NamedThing Traction bronchiolectasis hp0009lx5z Distortion of the bronchiolar airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchiolar dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as microcysts. peter owl:Class HP:0011466 biolink:NamedThing Aplasia/Hypoplasia of the gallbladder Absence or underdevelopment of the gallbladder. hp0009lx5z Absent/underdeveloped gallbladder|Absent/small gallbladder peter 2012-03-25T07:40:20Z UMLS:C4023344 human_phenotype owl:Class HP:0031611 biolink:NamedThing Sub-inner limiting membrane hemorrhage A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer. hp0009lx5z Sub-ILM hemorrhage|Sub-ILM haemorrhage|Sub-inner limiting membrane haemorrhage 2017-12-16 12:30:06+00:00 Preretinal hemorrhages usually occur at the interface between the posterior hyaloid and inner limiting membrane (ILM). Less frequently, they are located in the superficial retina between the ILM and the retinal nerve fibre layer. These sharply demarcated, dome-shaped hemorrhages show a predilection for the macular region and consequently lead to severe visual impairment. peter owl:Class HP:0100587 biolink:NamedThing Abnormal preputium morphology An abnormality of the retractable fold of skin that covers the tip of the penis. hp0009lx5z Abnormality of the preputium doelkens 2010-12-27T03:13:07Z UMLS:C4022016 owl:Class HP:0009315 biolink:NamedThing Triangular shaped proximal phalanx of the 4th finger Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped innermost bone of the 4th finger|Triangular shaped innermost bone of the ring finger doelkens 2009-01-08T05:11:48Z UMLS:C4024447 human_phenotype owl:Class HP:0009284 biolink:NamedThing Abnormality of the proximal phalanx of the 4th finger hp0009lx5z Abnormality of the proximal phalanx of the ring finger|Abnormal innermost bone of ring finger doelkens 2009-01-07T04:42:40Z HP:0004199 UMLS:C4021500 human_phenotype owl:Class HP:0005775 biolink:NamedThing Multiple skeletal anomalies hp0009lx5z UMLS:C4025138 human_phenotype owl:Class HP:0410391 biolink:NamedThing Increased proportion of CD4-positive, alpha-beta memory T cells An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp0009lx5z owl:Class HP:0030216 biolink:NamedThing Inertia Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). hp0009lx5z UMLS:C4022575 owl:Class HP:0000745 biolink:NamedThing Diminished motivation A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. hp0009lx5z Lack of motivation|Lacking in initiative|Diminished motivation|Lacks initiative|Lack of initiative SNOMEDCT_US:277521002|UMLS:C0456814 human_phenotype owl:Class HP:0001761 biolink:NamedThing Pes cavus The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight. hp0009lx5z High-arched foot MEDDRA:10034743|UMLS:C0728829|SNOMEDCT_US:205091006 human_phenotype owl:Class HP:0005990 biolink:NamedThing Thyroid hypoplasia Developmental hypoplasia of the thyroid gland. hp0009lx5z Small thyroid gland|Hypoplastic thyroid MSH:D050033|SNOMEDCT_US:367524008|UMLS:C0151516 human_phenotype owl:Class HP:0033079 biolink:NamedThing Aplasia/Hypoplasia of the thyroid gland Absence or underdevelopment of the thyroid gland. hp0009lx5z peter owl:Class HP:0003991 biolink:NamedThing Osteosclerosis of the ulna Osteosclerosis (increased density related to increased bone mass) of the ulna. hp0009lx5z Sclerotic ulna UMLS:C4021697 owl:Class HP:0007011 biolink:NamedThing Fourth cranial nerve palsy Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly. hp0009lx5z Trochlear nerve palsy The fourth cranial nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. UMLS:C0271375|SNOMEDCT_US:20610004|MSH:D020432 human_phenotype owl:Class HP:0000268 biolink:NamedThing Dolichocephaly An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. hp0009lx5z Long, narrow head|Tall and narrow skull|Narrow head shape|Narrow skull shape|Turridolichocephaly|Large dolichocephalic skull|Narrow cranium shape Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). HP:0000258|HP:0005440 UMLS:C4280654|UMLS:C4280655|SNOMEDCT_US:72239002|UMLS:C4280653|UMLS:C4280656|UMLS:C0221358 human_phenotype owl:Class HP:0003073 biolink:NamedThing Hypoalbuminemia Reduction in the concentration of albumin in the blood. hp0009lx5z Low albumin|Low blood albumin|Hypoalbuminaemia UMLS:C0239981|MSH:D034141|SNOMEDCT_US:119247004 human_phenotype owl:Class HP:0012116 biolink:NamedThing Abnormal circulating albumin concentration Deviation from normal concentration of albumin in the blood. hp0009lx5z Abnormal albumin level hecht 2012-09-16T05:14:53Z UMLS:C4023036 owl:Class HP:0032220 biolink:NamedThing Interface hepatitis Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma. hp0009lx5z 2019-01-21 01:12:37+00:00 peter owl:Class HP:0033344 biolink:NamedThing Pleural cobblestoning A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura. hp0009lx5z 2020-11-30 17:44:26+00:00 peter owl:Class HP:0009515 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 2nd finger hp0009lx5z Cone-shaped end part of the middle long bone of the index finger|Cone-shaped epiphyses of middle phalanx of index finger doelkens 2009-01-16T01:12:17Z HP:0004137 UMLS:C4021458 human_phenotype owl:Class HP:0100467 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 3rd toe hp0009lx5z Uneven increase in bone density in the outermost bone of the 3rd toe UMLS:C4022060 human_phenotype owl:Class HP:0010190 biolink:NamedThing Patchy sclerosis of distal toe phalanx Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Patchy sclerosis of the distal phalanges of the toes|Uneven increase in bone density in outermost toe bone doelkens 2009-05-29T01:52:41Z UMLS:C4021323 human_phenotype owl:Class HP:0030306 biolink:NamedThing 11 thoracic vertebrae The presence of 11 instead of the normal 12 thoracic vertebrae. hp0009lx5z UMLS:C4022521 owl:Class HP:0030305 biolink:NamedThing Decreased number of vertebrae hp0009lx5z UMLS:C4022522 owl:Class HP:0011750 biolink:NamedThing Neoplasm of the anterior pituitary A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. hp0009lx5z Neoplasm of the adenohypophysis|Neoplasm of the pars anterior peter 2012-04-22T01:18:46Z NCIT:C3262|UMLS:C4023205 human_phenotype owl:Class HP:0025050 biolink:NamedThing Elevated brain creatine level by MRS An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z Elevated brain creatine level by magnetic resonance spectroscopy 2016-09-26 08:46:45+00:00 HPO:probinson owl:Class HP:0025049 biolink:NamedThing Abnormal brain creatine level by MRS hp0009lx5z Abnormal brain creatine level by magnetic resonance spectroscopy 2016-09-26 08:45:22+00:00 A deviation from normal in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). HPO:probinson owl:Class HP:0003896 biolink:NamedThing Irregular humeral epiphyses hp0009lx5z Irregular end part of long bone in upper arm UMLS:C4025524 human_phenotype owl:Class HP:0004471 biolink:NamedThing Aplasia cutis congenita over the scalp vertex A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. hp0009lx5z Aplasia cutis congenita of vertex|Absent cutis congenita of vertex UMLS:C1970112 human_phenotype owl:Class HP:0040236 biolink:NamedThing Hyperfibrinolysis Increased degradation of fibrin, associated with clot instability and bleeding hp0009lx5z This term has been requested and created by members of the BRIDGE consortium UMLS:C3805089 owl:Class HP:0009441 biolink:NamedThing Bullet-shaped phalanges of the 3rd finger A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped bones of middle finger doelkens 2009-01-14T04:09:01Z UMLS:C4024360 human_phenotype owl:Class HP:0032213 biolink:NamedThing Increased urinary renal tubular epithelial cell count An increased number of renal tubular epithelial cells per high-power field in urinanalysis. hp0009lx5z 2019-01-20 21:05:55+00:00 peter owl:Class HP:0032211 biolink:NamedThing Increased urinary epithelial cell count An increased number of epithelial cells per high-power field in urinanalysis. hp0009lx5z 2019-01-20 21:01:58+00:00 There are three types of epithelial cells that are encountered upon urinalysis, squamous, renal tubular, and transitional. peter owl:Class HP:0100679 biolink:NamedThing Lack of skin elasticity hp0009lx5z Tight skin doelkens 2010-12-30T01:48:15Z UMLS:C4021998|SNOMEDCT_US:297957009|UMLS:C0558242 human_phenotype owl:Class HP:0012611 biolink:NamedThing Increased urinary urate Elevated concentration of urate in the urine. hp0009lx5z Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. peter 2014-01-17T11:57:29Z UMLS:C0878672 human_phenotype owl:Class HP:0012610 biolink:NamedThing Abnormality of urinary uric acid concentration Abnormal concentration of urate in the urine. hp0009lx5z Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. peter 2014-01-17T11:56:43Z UMLS:C4022822 human_phenotype owl:Class HP:0032781 biolink:NamedThing Focal aware autonomic seizure with urge to urinate/defecate A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0004779 biolink:NamedThing Brittle scalp hair Fragile, easily breakable scalp hair. hp0009lx5z Brittle scalp hair HP:0004776 UMLS:C4025296 human_phenotype owl:Class HP:0002299 biolink:NamedThing Brittle hair Fragile, easily breakable hair, i.e., with reduced tensile strength. hp0009lx5z Reduced tensile strength of hair|Fragile hair|Fractured hair|Brittle hair|Easily breakable hair Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia). UMLS:C1851868|UMLS:C4072837|UMLS:C0263490|SNOMEDCT_US:25159003|UMLS:C1970705 human_phenotype owl:Class HP:0032468 biolink:NamedThing History of stillbirth One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation). hp0009lx5z 2019-04-04 09:53:23+00:00 peter owl:Class HP:0032467 biolink:NamedThing Past obstetric history Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies. hp0009lx5z Maternal medical history 2019-04-04 09:46:23+00:00 peter owl:Class HP:3000013 biolink:NamedThing Abnormality of platysma An abnormality of the platysma muscle. hp0009lx5z Abnormality of the platysma muscle vasilevs 2015-02-26T03:56:14Z UMLS:C4073222 human_phenotype owl:Class HP:0032249 biolink:NamedThing Coccidioidomycosis Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii. hp0009lx5z Valley fever 2019-01-27 13:37:54+00:00 Persons with immunodeficiency diseases, diabetics, transplant recipients, and prisoners are also particularly vulnerable to infection by Coccidioides. peter owl:Class HP:0006887 biolink:NamedThing Intellectual disability, progressive The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time. hp0009lx5z Mental retardation, progressive|Intellectual disability, progressive|Progressive mental retardation HP:0006924|HP:0007243|HP:0007044|HP:0007025|HP:0001261 UMLS:C1846149 human_phenotype owl:Class HP:0012324 biolink:NamedThing Myeloid leukemia A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. hp0009lx5z Myeloid leukaemia peter 2013-08-12T06:38:18Z SNOMEDCT_US:128934006|SNOMEDCT_US:37810007|SNOMEDCT_US:188732008|UMLS:C0023470|MSH:D007951 human_phenotype owl:Class HP:0011761 biolink:NamedThing Pituitary null cell adenoma A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess. hp0009lx5z Clinically silent pituitary adenoma|Non-functional pituitary adenoma|Silent pituitary adenoma|Hormonally silent pituitary adenoma peter 2012-04-22T03:39:00Z SNOMEDCT_US:254962005|UMLS:C0338078 human_phenotype owl:Class HP:0002893 biolink:NamedThing Pituitary adenoma A benign epithelial tumor derived from intrinsic cells of the adenohypophysis. hp0009lx5z Noncancerous tumour in pituitary gland|Noncancerous tumor in pituitary gland In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism. UMLS:C0032000|NCIT:C2855|SNOMEDCT_US:128664001|MSH:D010911|ICD-O:M8272/0|SNOMEDCT_US:254956000 human_phenotype owl:Class HP:0025548 biolink:NamedThing Increased mean corpuscular hemoglobin concentration An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). hp0009lx5z Increased mean corpuscular Hb concentration|Increased MCH|Increased mean corpuscular haemoglobin concentration|Increased MCHC|Increased mean corpuscular haemoglobin 2017-07-09 12:29:45+00:00 HPO:probinson owl:Class HP:0025546 biolink:NamedThing Abnormal mean corpuscular hemoglobin concentration A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. hp0009lx5z Abnormal mean corpuscular haemoglobin concentration|Abnormal mean corpuscular haemoglobin|Abnormal MCHC|Abnormal MCH|Abnormal mean corpuscular Hb concentration 2017-07-09 12:25:23+00:00 HPO:probinson owl:Class HP:0032479 biolink:NamedThing Preimplantation lethality It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development. hp0009lx5z Preimplantation embryonic lethality 2019-04-09 12:33:42+00:00 peter owl:Class HP:0033760 biolink:NamedThing Decreased maximal oxygen uptake Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload. hp0009lx5z 2021-04-29 21:47:37+00:00 peter owl:Class HP:0100288 biolink:NamedThing EMG: myokymic discharges The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding. hp0009lx5z doelkens 2010-08-10T01:12:27Z UMLS:C4022166 human_phenotype owl:Class HP:0008283 biolink:NamedThing Fasting hyperinsulinemia An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. hp0009lx5z High blood insulin levels while fasting UMLS:C1864954 human_phenotype owl:Class HP:0009280 biolink:NamedThing Short 4th finger Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger. hp0009lx5z Short ring finger|Hypoplastic/small 4th finger doelkens 2009-01-07T04:28:08Z HP:0004190|HP:0006211 UMLS:C4021502 human_phenotype owl:Class HP:0011492 biolink:NamedThing Abnormality of corneal stroma An abnormality of the stroma of cornea, also known as the substantia propria of cornea. hp0009lx5z peter 2012-04-02T10:28:49Z UMLS:C4023328 human_phenotype owl:Class HP:0006895 biolink:NamedThing Lower limb hypertonia hp0009lx5z UMLS:C1845245 human_phenotype owl:Class HP:0000851 biolink:NamedThing Congenital hypothyroidism A type of hypothyroidism with congenital onset. hp0009lx5z Hypothyroidism, congenital|Underactive thyroid gland from birth SNOMEDCT_US:190268003|UMLS:C0010308|MSH:D003409|SNOMEDCT_US:217710005 human_phenotype owl:Class HP:0000821 biolink:NamedThing Hypothyroidism Deficiency of thyroid hormone. hp0009lx5z Underactive thyroid|Low T4 HP:0003222|HP:0008203 UMLS:C0020676|SNOMEDCT_US:40930008|MSH:D007037 human_phenotype owl:Class HP:0002938 biolink:NamedThing Lumbar hyperlordosis An abnormal accentuation of the inward curvature of the spine in the lumbar region. hp0009lx5z Excessive inward curvature of lower spine|Exaggerated lumbar lordosis|Prominent lumbar lordosis|Lumbar lordosis|Increased lumbar lordosis HP:0004560|HP:0002941|HP:0004596|HP:0004574 UMLS:C1184923 human_phenotype owl:Class HP:0003307 biolink:NamedThing Hyperlordosis Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine. hp0009lx5z Prominent swayback|Lordosis HP:0002939 MSH:D008141|SNOMEDCT_US:249710008|UMLS:C0024003|SNOMEDCT_US:61960001 human_phenotype owl:Class HP:0003489 biolink:NamedThing Acute episodes of neuropathic symptoms hp0009lx5z Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). UMLS:C1867971 human_phenotype owl:Class HP:0001344 biolink:NamedThing Absent speech Complete lack of development of speech and language abilities. hp0009lx5z Absent speech development|Lack of language development|No speech development|Lack of speech|Nonverbal|No speech or language development This term should not be used in very young children. HP:0001617|HP:0006798 UMLS:C1854882|UMLS:C0746940 owl:Class HP:0000750 biolink:NamedThing Delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age. hp0009lx5z Delayed speech acquisition|Delayed language development|Delayed speech and language development|Delayed speech|Late-onset speech development|Language delayed|Language development deficit|Speech difficulties|Speech delay|Impaired speech and language development|Poor speech acquisition|Delayed speech development|Deficiency of speech development|Speech and language delay|Speech and language difficulties|Poor language development|Language delay|Poor speech development|Impaired speech development Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. HP:0002336|HP:0007127|HP:0002399|HP:0002117|HP:0002116|HP:0002498|HP:0007004|HP:0007170|HP:0006936|HP:0007172 SNOMEDCT_US:229721007|SNOMEDCT_US:62415009|UMLS:C0241210|UMLS:C0023012|SNOMEDCT_US:29164008|UMLS:C0454644|UMLS:C0233715|MSH:D007805|SNOMEDCT_US:162294008 owl:Class HP:0011146 biolink:NamedThing Dialeptic seizure A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. hp0009lx5z Unknown onset behavioural arrest seizure with impairment of awareness|Behavioural arrest seizure with impairment of awareness irrespective of onset|Unknown onset behavioral arrest seizure with impairment of awareness|Behavioral arrest seizure with impairment of awareness irrespective of onset The main ictal manifestation of dialeptic seizures is an alteration of consciousness rather than motor or sensory features. The term describes the pure clinical semiology of a seizure and is used independently of the ictal electrographic findings: it could describe a seizure of focal, generalized or unknown onset. In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. 2011-10-18T01:47:30Z owl:Class HP:0011790 biolink:NamedThing Activating thyroid-stimulating hormone receptor defect Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect. hp0009lx5z Activating TSHR defect peter 2012-04-22T06:34:35Z UMLS:C4023188 human_phenotype owl:Class HP:0010890 biolink:NamedThing Morbus Osgood-Schlatter Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae. hp0009lx5z Osgood Schlatter disease Painfull irritation and localized bony necrosis affecting the Tuberositas tibiae, where tha patellar tendon inserts. sdoelken 2010-09-25T11:04:19Z UMLS:C0029376|SNOMEDCT_US:79353000|SNOMEDCT_US:72047008|MSH:D055034 human_phenotype owl:Class HP:0032923 biolink:NamedThing Focal impaired awareness vocal automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. hp0009lx5z peter owl:Class HP:0001067 biolink:NamedThing Neurofibromas The presence of multiple cutaneous neurofibromas. hp0009lx5z multiple neurofibromas|Neurofibromata|Neurofibromatosis HP:0007386|HP:0007612|HP:0006746 SNOMEDCT_US:19133005|UMLS:C0162678|SNOMEDCT_US:81669005|MSH:D017253|NCIT:C3272 human_phenotype owl:Class HP:0005218 biolink:NamedThing Anoperineal fistula The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. hp0009lx5z Perianal fistula UMLS:C1835798 owl:Class HP:0004871 biolink:NamedThing Perineal fistula The presence of a fistula between the bowel and the perineum. hp0009lx5z The perineum is the diamond-shaped region of the body between the pubic arch and the anus. UMLS:C0561921|SNOMEDCT_US:284077005 human_phenotype owl:Class HP:0011684 biolink:NamedThing Non-restrictive ventricular septal defect Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD. hp0009lx5z This term can be used in addition to another term describing the morphology of a VSD. peter 2012-04-10T08:29:05Z SNOMEDCT_US:373131000|UMLS:C1298817 human_phenotype owl:Class HP:0010624 biolink:NamedThing Aplastic/hypoplastic toenail Absence or underdevelopment of the toenail. hp0009lx5z Absent/small toenails|Hypoplastic-absent toenails|Absent/underdeveloped toenails|Aplastic/hypoplastic toenails doelkens 2009-11-20T05:55:11Z HP:0008381|HP:0008389 UMLS:C1856749 human_phenotype owl:Class HP:0008386 biolink:NamedThing Aplasia/Hypoplasia of the nails Aplasia or developmental hypoplasia of the nail. hp0009lx5z Nail aplasia/hypoplasia|Absent/underdeveloped nails|Absent/small nails|Absent/hypoplastic nails HP:0008385 UMLS:C1859077 owl:Class HP:0007348 biolink:NamedThing Hypoplasia of the pyramidal tract hp0009lx5z UMLS:C1850871 human_phenotype owl:Class HP:0007363 biolink:NamedThing Aplasia/Hypoplasia of the pyramidal tract hp0009lx5z peter 2008-03-31T05:41:00Z UMLS:C4024903 human_phenotype owl:Class HP:0100555 biolink:NamedThing Asymmetric growth A growth pattern that displays an abnormal difference between the left and the right side. hp0009lx5z Uneven or disproportionate growth of one body part compared to another doelkens 2010-12-21T04:00:12Z UMLS:C4022025 human_phenotype owl:Class HP:0010710 biolink:NamedThing 3-5 finger syndactyly Syndactyly with fusion of fingers three to five. hp0009lx5z Webbed third, fourth and fifth toes sdoelken 2010-03-26T05:12:44Z UMLS:C4023727 human_phenotype owl:Class HP:0011974 biolink:NamedThing Myelofibrosis Replacement of bone marrow by fibrous tissue. hp0009lx5z peter 2012-07-18T08:51:57Z UMLS:C0026987|SNOMEDCT_US:52967002 human_phenotype owl:Class HP:0010899 biolink:NamedThing Abnormal circulating aspartate family amino acid concentration Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation. hp0009lx5z peter 2010-12-02T04:40:57Z UMLS:C4023667 human_phenotype owl:Class HP:0009205 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 5th finger A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. hp0009lx5z Cone-shaped end part of the middle bone of the pinky finger|Cone-shaped end part of the middle bone of the little finger|Cone-shaped end part of the middle bone of the pinkie finger doelkens 2009-01-05T05:22:18Z UMLS:C4024535 human_phenotype owl:Class HP:0030655 biolink:NamedThing Umbilical cord knot An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord. hp0009lx5z When the true knot remains tight, it may impede the circulation of the fetus and may result to fetal death in utero especially in labor. UToronto:chum SNOMEDCT_US:237309005|UMLS:C0344363 owl:Class HP:0009700 biolink:NamedThing Finger symphalangism An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. hp0009lx5z Fused finger bones|Symphalangism of the hand|Synostosis involving bones of the fingers doelkens 2009-01-30T04:12:24Z UMLS:C4021399 human_phenotype owl:Class HP:0031663 biolink:NamedThing Paradoxical splitting of the second heart sound Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern). hp0009lx5z Reversed splitting of S2|Reversed splitting of the second heart sound|Paradoxical splitting of S2 2017-12-17 16:11:27+00:00 peter owl:Class HP:0500048 biolink:NamedThing Delayed canalization of nasolacrimal duct A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period. hp0009lx5z 2018-02-19 15:38:47+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0000579 biolink:NamedThing Nasolacrimal duct obstruction Blockage of the lacrimal duct. hp0009lx5z Lacrimal duct obstruction|Blocked tear duct SNOMEDCT_US:246865000|MSH:D007767|SNOMEDCT_US:314022009|SNOMEDCT_US:231841004|UMLS:C1281931|SNOMEDCT_US:416920000|UMLS:C0022906 human_phenotype owl:Class HP:0008513 biolink:NamedThing Bilateral conductive hearing impairment A bilateral type of conductive hearing impairment. hp0009lx5z Bilateral conductive hearing loss|Bilateral conductive deafness HP:0008536 SNOMEDCT_US:194417009|UMLS:C0452136 human_phenotype owl:Class HP:0033055 biolink:NamedThing Impaired ability to plan Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity. hp0009lx5z Ineffective planning peter owl:Class HP:0009429 biolink:NamedThing Aplasia of the distal phalanx of the 3rd finger Absence of the distal phalanx of the middle (3rd) finger. hp0009lx5z Absent of the outermost bone of the middle finger doelkens 2009-01-14T03:18:42Z UMLS:C4024368 human_phenotype owl:Class HP:0011582 biolink:NamedThing Abdominal ectopia cordis Displacement of the heart outside the thoracic cavity and into the abdomen. hp0009lx5z peter 2012-04-08T01:10:32Z UMLS:C4023287 human_phenotype owl:Class HP:0030006 biolink:NamedThing Single fiber EMG abnormality Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers. hp0009lx5z Single fibre EMG abnormality UMLS:C4022679 owl:Class HP:0009785 biolink:NamedThing Triceps aplasia Absence of the triceps muscle. hp0009lx5z Absent triceps peter 2009-02-03T05:15:21Z UMLS:C3810484 human_phenotype owl:Class HP:0009784 biolink:NamedThing Aplasia/Hypoplasia of the triceps Absence or underdevelopment of the triceps muscle. hp0009lx5z Absent/underdeveloped triceps|Absent/small triceps peter 2009-02-03T04:58:31Z UMLS:C4024208 human_phenotype owl:Class HP:0100903 biolink:NamedThing Sclerosis of the distal phalanx of the 5th finger hp0009lx5z Increased bone density in the outermost pinky finger bone|Increased bone density in the outermost little finger bone|Increased bone density in the outermost pinkie finger bone UMLS:C4021939 human_phenotype owl:Class HP:0010166 biolink:NamedThing Fragmentation of the epiphyses of the toes hp0009lx5z Fragmentation of the end part of the toe bones doelkens 2009-05-29T01:34:06Z UMLS:C4023993 human_phenotype owl:Class HP:0033057 biolink:NamedThing Decreased serum terminal complement component Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9. hp0009lx5z peter owl:Class HP:0004431 biolink:NamedThing Complement deficiency An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. hp0009lx5z peter 2008-03-18T09:51:00Z SNOMEDCT_US:24743004|UMLS:C0272242 human_phenotype owl:Class HP:0030930 biolink:NamedThing 1-minute APGAR score of 3 hp0009lx5z 2016-11-07 18:16:25+00:00 robinp owl:Class HP:0011919 biolink:NamedThing Pleural empyema Accumulation of pus in the pleural cavity. hp0009lx5z Pyothorax peter 2012-06-08T07:13:41Z SNOMEDCT_US:405950009|MSH:D016724|SNOMEDCT_US:58554001|SNOMEDCT_US:405951008|UMLS:C0014013 human_phenotype owl:Class HP:0410201 biolink:NamedThing Positive hair barbiturate test Detection of barbiturate metabolites such as phenobarbital in the hair. hp0009lx5z 2018-07-20 23:03:14+00:00 owl:Class HP:0500099 biolink:NamedThing Hair xenobiotic Presence of xenobiotic in hair. hp0009lx5z 2018-05-21 13:44:10+00:00 owl:Class HP:0008610 biolink:NamedThing Infantile sensorineural hearing impairment A form of sensorineural hearing impairment with infantile onset. hp0009lx5z Infantile sensorineural hearing loss UMLS:C4021535 human_phenotype owl:Class HP:0011474 biolink:NamedThing Childhood onset sensorineural hearing impairment Sensorineural hearing impairment with childhood onset. hp0009lx5z peter 2012-03-30T07:18:09Z UMLS:C4023340 human_phenotype owl:Class HP:0011592 biolink:NamedThing Left aortic arch with isolated subclavian artery The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis. hp0009lx5z peter 2012-04-08T02:01:39Z UMLS:C4023280 human_phenotype owl:Class HP:0031055 biolink:NamedThing Abnormal branching pattern of left aortic arch A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch). hp0009lx5z 2017-05-27 17:24:29+00:00 peter owl:Class HP:0012849 biolink:NamedThing Small intestinal bleeding Bleeding from the small intestine. hp0009lx5z Small intestinal bleeding|Small intestinal haemorrhage|Small intestinal hemorrhage hecht 2014-06-07T09:12:22Z UMLS:C0520561|SNOMEDCT_US:70375006 human_phenotype owl:Class HP:0011180 biolink:NamedThing Partial beta-EEG EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz). hp0009lx5z A partial beta-EEG is a rare finding but not generally pathologic. hecht 2011-11-19T10:25:50Z UMLS:C4023492 human_phenotype owl:Class HP:0011179 biolink:NamedThing Beta-EEG EEG dominated by diffuse beta-waves (>13 Hz). hp0009lx5z Beta wave electroencephalography Beta-EEG is a rare finding but not generally pathologic. hecht 2011-11-19T10:25:00Z UMLS:C4023493 human_phenotype owl:Class HP:0004020 biolink:NamedThing Irregular ossification of the radial metaphysis hp0009lx5z UMLS:C4025440 human_phenotype owl:Class HP:0010974 biolink:NamedThing Abnormal myeloid leukocyte morphology An abnormality of myeloid leukocytes. hp0009lx5z Abnormality of myeloid leukocytes A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage. peter 2011-02-06T09:24:46Z UMLS:C4023618 human_phenotype owl:Class HP:0033336 biolink:NamedThing Zygotic cleavage failure Failure of a fertilized oocyte to undergo the first round of cell division. hp0009lx5z Failure of zygotic cell division 2020-11-29 17:54:41+00:00 A zygote undergoes rapid cell divisions referred to as cleavage because they are not are not associated with significant growth of the embryo. The iniital round of cleavage forms a spherical ball of cells called the blastula, which then develops into a blastocyst. peter owl:Class HP:0010681 biolink:NamedThing Elevated intestinal alkaline phosphatase An abnormally increased level of alkaline phosphatase, intestinal type in the blood. hp0009lx5z Elevated intestinal ALP Intestinal alkaline phosphatase (IAP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID:248, Uniprot ID: P09923 (PPBI_HUMAN). doelkens 2010-03-05T11:10:34Z UMLS:C4023744 owl:Class HP:0002722 biolink:NamedThing Recurrent abscess formation An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. hp0009lx5z UMLS:C4025684 human_phenotype owl:Class HP:0004337 biolink:NamedThing Abnormality of amino acid metabolism Abnormality of an amino acid metabolic process. hp0009lx5z Amino acid levels abnormal peter 2008-03-08T07:53:00Z UMLS:C1328440 human_phenotype owl:Class HP:0001701 biolink:NamedThing Pericarditis Inflammation of the sac-like covering around the heart (pericardium). hp0009lx5z Swelling or irritation of membrane around heart SNOMEDCT_US:3238004|MSH:D010493|UMLS:C0031046 owl:Class HP:0045073 biolink:NamedThing Serositis Inflammation in any serous cavity. hp0009lx5z owl:Class HP:0033866 biolink:NamedThing Medullary peritubular capillary erythrocyte congestion Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). hp0009lx5z 2021-06-23 19:01:20+00:00 peter owl:Class HP:0020141 biolink:NamedThing Blood pressure substantially higher in legs than arms An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. hp0009lx5z Blood pressure substantially lower in upper than lower extremities|Blood pressure substantially higher in lower than upper extremities|Blood pressure substantially lower in arms than legs This feature may be seen, for instance, in Takayasu arteritis. robinp 2019-07-05 17:52:19+00:00 owl:Class HP:0030972 biolink:NamedThing Abnormal systemic blood pressure A chronic deviation from normal pressure in the systemic arterial system. hp0009lx5z Abnormal systemic BP 2017-04-18 13:55:40+00:00 robinp owl:Class HP:0011952 biolink:NamedThing Acute aspiration pneumonia An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. hp0009lx5z peter 2012-06-21T08:42:03Z SNOMEDCT_US:35031000119100|UMLS:C4023111 human_phenotype owl:Class HP:0003365 biolink:NamedThing Arthralgia of the hip Joint pain affecting the hip. hp0009lx5z Hip arthralgia|Hip joint pain|Coxalgia UMLS:C0019559|SNOMEDCT_US:49218002 human_phenotype owl:Class HP:0006957 biolink:NamedThing Loss of ability to walk hp0009lx5z Loss of ability to walk UMLS:C1849097 human_phenotype owl:Class HP:0025165 biolink:NamedThing Clumping of elastic fibers in the dermis Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis). hp0009lx5z Clumping of elastic fibres in the dermis 2016-12-04 13:50:37+00:00 HPO:probinson owl:Class HP:0041209 biolink:NamedThing Fractured epiphysis of middle phalanx of manus A partial or complete breakage of the epiphysis of middle phalanx of manus. hp0009lx5z bone epiphysis of middle phalanx of manus owl:Class HP:0030519 biolink:NamedThing Congruous heteronymous hemianopia hp0009lx5z UMLS:C4072998 owl:Class HP:0030517 biolink:NamedThing Heteronymous hemianopia hp0009lx5z Heteronymous hemianopsia UMLS:C0271207|SNOMEDCT_US:345121001|SNOMEDCT_US:344104004 owl:Class HP:0030334 biolink:NamedThing Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells. hp0009lx5z UMLS:C4022502 owl:Class HP:0008080 biolink:NamedThing Hallux varus Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. hp0009lx5z Medially deviated halluces MSH:D050488|SNOMEDCT_US:274147008|UMLS:C0546297 human_phenotype owl:Class HP:0031989 biolink:NamedThing Perioral spasm A sudden involuntary contraction of the musculature surrounding the mouth. hp0009lx5z 2018-07-09 14:40:12+00:00 peter owl:Class HP:0003394 biolink:NamedThing Muscle spasm Sudden and involuntary contractions of one or more muscles. hp0009lx5z Muscle cramps HP:0009018|HP:0031988 UMLS:C0026821|MSH:D009120|SNOMEDCT_US:55300003 owl:Class HP:0025125 biolink:NamedThing White lesion of the oral mucosa White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white. hp0009lx5z 2016-11-14 02:08:04+00:00 HPO:probinson owl:Class HP:0011830 biolink:NamedThing Abnormal oral mucosa morphology Abnormality of the oral mucosa. hp0009lx5z Abnormality of lining of mouth|Abnormality of oral mucosa|Abnormality of oral mucous membrane|Abnormality of mucosa of mouth peter 2012-05-01T10:43:40Z UMLS:C4023170 human_phenotype owl:Class HP:0010164 biolink:NamedThing Cone-shaped epiphyses of the toes hp0009lx5z Cone-shaped end part of the toe bones doelkens 2009-05-29T01:34:06Z UMLS:C4023995 human_phenotype owl:Class HP:0012242 biolink:NamedThing Superior rectus atrophy Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. hp0009lx5z Rectus superior atrophy peter 2013-04-02T06:55:22Z UMLS:C1851108 human_phenotype owl:Class HP:0007067 biolink:NamedThing Distal peripheral sensory neuropathy Peripheral sensory neuropathy affecting primarily distal sensation. hp0009lx5z Peripheral sensory neuropathy, distal UMLS:C4021582 human_phenotype owl:Class HP:0010750 biolink:NamedThing Dermatochalasis Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge. hp0009lx5z Redundant eyelid skin|Eyelid dermatochalasia|Baggy eyes|Hooding of eyelids|Droopy eyelid skin|Extra eyelid skin sdoelken 2010-04-23T10:07:56Z UMLS:C2674149|UMLS:C0423124|SNOMEDCT_US:246815009 human_phenotype owl:Class HP:0100031 biolink:NamedThing Neoplasm of the thyroid gland A tumor (abnormal growth of tissue) of the thyroid gland. hp0009lx5z Neoplasia of the thyroid gland doelkens 2010-06-10T10:30:24Z MSH:D013964|SNOMEDCT_US:127018007|NCIT:C3262|UMLS:C0040136 owl:Class HP:0100087 biolink:NamedThing Triangular epiphyses of the 5th toe hp0009lx5z Triangular end part of the pinkie toe bone|Triangular end part of the pinky toe bone|Triangular end part of the little toe bone doelkens 2010-06-24T10:00:02Z UMLS:C4022334 human_phenotype owl:Class HP:0012187 biolink:NamedThing Increased erythrocyte protoporphyrin concentration An increased concentration of protoporphyrins in erythrocytes. hp0009lx5z peter 2013-02-24T09:49:59Z UMLS:C4023007 human_phenotype owl:Class HP:0000136 biolink:NamedThing Bifid uterus The presence of a bifid uterus. hp0009lx5z A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts. UMLS:C1850327 human_phenotype owl:Class HP:0012341 biolink:NamedThing Microprolactinoma A pituitary prolactin cell adenoma of less than 10 mm diameter. hp0009lx5z peter 2013-09-13T09:49:32Z SNOMEDCT_US:253010003|UMLS:C0344452|MSH:D015175 human_phenotype owl:Class HP:0006767 biolink:NamedThing Pituitary prolactin cell adenoma A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. hp0009lx5z Pituitary prolactinoma|Prolactin-secreting pituitary adenoma UMLS:C0033375|SNOMEDCT_US:34337008|SNOMEDCT_US:134209002|MSH:D015175 human_phenotype owl:Class HP:0005453 biolink:NamedThing Absent/hypoplastic paranasal sinuses Aplasia or hypoplasia of the paranasal sinuses. hp0009lx5z UMLS:C1856639 human_phenotype owl:Class HP:0009120 biolink:NamedThing Aplasia/Hypoplasia involving the sinuses Absence or underdevelopment of a cranial sinus or sinuses. hp0009lx5z peter 2008-04-05T11:01:00Z UMLS:C4024587 human_phenotype owl:Class HP:0000348 biolink:NamedThing High forehead An abnormally increased height of the forehead. hp0009lx5z Tall forehead|High forehead HP:0000342 UMLS:C0239676|UMLS:C2677762 human_phenotype owl:Class HP:0040009 biolink:NamedThing Hyperparakeratosis Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum. hp0009lx5z HPO:skoehler UMLS:C1265968|SNOMEDCT_US:125554003 owl:Class HP:0001961 biolink:NamedThing Hypoplastic heart hp0009lx5z Small heart|Underdeveloped heart UMLS:C3151525 owl:Class HP:0020189 biolink:NamedThing Posterior predominant thick cortex pachygyria Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. hp0009lx5z Pachygyria with cortical thickness over 10 mm posterior predominant|Occipital predomimant classic pachygyria robinp 2019-09-03 13:01:16+00:00 owl:Class HP:0012848 biolink:NamedThing Small intestinal stenosis The narrowing or partial blockage of a portion of the small intestine. hp0009lx5z Narrowing of small intestine hecht 2014-06-07T09:00:19Z UMLS:C0151924 human_phenotype owl:Class HP:0004528 biolink:NamedThing Generalized hypotrichosis Reduced or lacking hair growth in a generalized distribution. hp0009lx5z Hypotrichosis, generalized|Hypotrichosis, generalised|Generalised hypotrichosis HP:0004513 UMLS:C4021653 human_phenotype owl:Class HP:0002077 biolink:NamedThing Migraine with aura A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession. hp0009lx5z MSH:D020325|SNOMEDCT_US:4473006|UMLS:C0154723 human_phenotype owl:Class HP:0002076 biolink:NamedThing Migraine Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. hp0009lx5z Migraine|Migraine headache|Intermittent migraine headaches|Migraine headaches HP:0007194 UMLS:C0149931|MSH:D008881|SNOMEDCT_US:37796009|UMLS:C0744641 human_phenotype owl:Class HP:0001857 biolink:NamedThing Short distal phalanx of toe Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. hp0009lx5z Short outermost bone of toe|Hypoplastic distal phalanges of feet This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. UMLS:C4021771 human_phenotype owl:Class HP:0025209 biolink:NamedThing Triggered by fructose ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose. hp0009lx5z Trigged by fruit sugar 2016-12-10 13:48:19+00:00 HPO:probinson owl:Class HP:0000650 biolink:NamedThing Abnormal amplitude of pattern reversal visual evoked potentials hp0009lx5z UMLS:C4025834 human_phenotype owl:Class HP:0100289 biolink:NamedThing Abnormality of pattern reversal visual evoked potentials hp0009lx5z Abnormality of pattern reversal VEP doelkens 2010-08-10T01:20:56Z UMLS:C4022165 human_phenotype owl:Class HP:0033351 biolink:NamedThing Candida esophagitis Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. hp0009lx5z Esophageal candidiasis 2020-11-30 22:27:14+00:00 peter owl:Class HP:0003170 biolink:NamedThing Abnormal acetabulum morphology An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. hp0009lx5z Abnormality of the hipbone socket|Abnormality of the acetabulum|Acetabular abnormality UMLS:C4021739 owl:Class HP:0005317 biolink:NamedThing Increased pulmonary vascular resistance Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. hp0009lx5z UMLS:C1867423 owl:Class HP:0001034 biolink:NamedThing Hypermelanotic macule A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. hp0009lx5z Hyperpigmented macules|Hyperpigmented spots|Hyperpigmented skin patches HP:0007491|HP:0007442|HP:0200033|HP:0200031|HP:0100815|HP:0007492 UMLS:C1842774 human_phenotype owl:Class HP:0012204 biolink:NamedThing Recurrent vulvovaginal candidiasis Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida. hp0009lx5z peter 2013-03-12T12:09:45Z UMLS:C4023003 human_phenotype owl:Class HP:0011861 biolink:NamedThing Bilateral trilobed lungs Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes. hp0009lx5z peter 2012-05-27T01:09:21Z SNOMEDCT_US:448648001|UMLS:C3164377 human_phenotype owl:Class HP:0002101 biolink:NamedThing Abnormal lung lobation A developmental defect in the formation of pulmonary lobes. hp0009lx5z Lung segmentation defects|Defective lung lobation HP:0006525|HP:0009753 UMLS:C0685695|SNOMEDCT_US:91842005 owl:Class HP:0030469 biolink:NamedThing Abnormal dark-adapted electroretinogram hp0009lx5z UMLS:C4072959 owl:Class HP:0030466 biolink:NamedThing Abnormal full-field electroretinogram hp0009lx5z UMLS:C4072956 owl:Class HP:0001548 biolink:NamedThing Overgrowth Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. hp0009lx5z General overgrowth|Generalised overgrowth|Generalized overgrowth UMLS:C3150281|UMLS:C1851731|UMLS:C1849265 owl:Class HP:0032495 biolink:NamedThing Abnormal terminal:vellus ratio A deviation from the normal proportion of terminal to vellus hairs. hp0009lx5z 2019-04-12 11:32:25+00:00 Scalp hairs comprise large terminal hairs and small vellus hairs. Terminal hairs are conspicuous and exceed 0.03 mm in diameter and 1 cm in length, and may be pigmented and medullated. Vellus hairs are inconspicuous and are 0.03 mm or less in diameter and less than 1 cm in length and lack melanin and medulla. peter owl:Class HP:0000437 biolink:NamedThing Depressed nasal tip Decreased distance from the nasal tip to the nasal base. hp0009lx5z Flattened nasal tip|Depressed tip of nose|Depressed nasal tip|Flat tip of nose|Nasal tip, depressed|Nasal tip, retruded|Flat nasal tip|Nasal tip, recessed|Retruded tip of nose|Caved in nasal tip This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately. HP:0005279 UMLS:C1859717 human_phenotype owl:Class HP:0100152 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 3rd toe hp0009lx5z Increased bone density of end part of the middle bone of the 3rd toe doelkens 2010-06-24T10:24:13Z UMLS:C4022269 human_phenotype owl:Class HP:0002170 biolink:NamedThing Intracranial hemorrhage Hemorrhage occurring within the skull. hp0009lx5z Intracranial haemorrhage|Bleeding within the skull UMLS:C0151699|MSH:D020300|SNOMEDCT_US:1386000 human_phenotype owl:Class HP:0011029 biolink:NamedThing Internal hemorrhage The presence of hemorrhage within the body. hp0009lx5z Internal haemorrhage|Internal bleeding peter 2011-03-03T10:26:26Z UMLS:C1390214 human_phenotype owl:Class HP:0009307 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 4th finger Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger. hp0009lx5z Uneven increase in bone density in the middle bone of the ring finger doelkens 2009-01-08T04:59:22Z UMLS:C4024454 human_phenotype owl:Class HP:0009848 biolink:NamedThing Patchy sclerosis of middle phalanx of finger Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand. hp0009lx5z Patchy sclerosis of the middle phalanges of the hand|Uneven increase in bone density in the middle finger bones of the hand doelkens 2009-03-11T12:15:55Z HP:0009870 UMLS:C4021382 human_phenotype owl:Class HP:0008096 biolink:NamedThing Medially deviated second toe Medial deviation of the second toe. hp0009lx5z UMLS:C1862147 human_phenotype owl:Class HP:0040297 biolink:NamedThing Preauricular cyst Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix. hp0009lx5z owl:Class HP:0000383 biolink:NamedThing Abnormality of periauricular region hp0009lx5z Anomaly of the periauricular region|Deformity of the periauricular region|Abnormality of the region around the ear|Malformation of the periauricular region UMLS:C4025856 human_phenotype owl:Class HP:0004571 biolink:NamedThing Widening of cervical spinal canal hp0009lx5z UMLS:C3807591 human_phenotype owl:Class HP:0040269 biolink:NamedThing Blocked Eustachian tube hp0009lx5z Obstruction of Eustachian tube SNOMEDCT_US:48145001|UMLS:C0149508 owl:Class HP:0030424 biolink:NamedThing Epididymal cyst A smooth, extratesticular, spherical cyst in the head of the epididymis. hp0009lx5z Epididymal cysts Diagnosis of epididymal cyst can be confirmed by scrotal ultrasound. Patients can present with scrotal mass or pain. Epididymal cysts are usually between 3-30 mm in diameter. In some cases they can resolve spontaneously. MSH:D013088|SNOMEDCT_US:43077002|UMLS:C0037859|SNOMEDCT_US:49263001 owl:Class HP:0009714 biolink:NamedThing Abnormality of the epididymis An abnormality of the epididymis. hp0009lx5z The epididymis is the structure that connects efferent ductules to vas deferens. peter 2009-01-30T11:44:43Z UMLS:C4024222 human_phenotype owl:Class HP:0031551 biolink:NamedThing Reduced cell surface marker level Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry. hp0009lx5z 2017-09-24 23:18:36+00:00 peter owl:Class HP:5000013 biolink:NamedThing Anti-GFAP antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP). hp0009lx5z Anti-glial fibrillary acidic protein antibody ORCID:0000-0002-3387-1836 owl:Class HP:0012902 biolink:NamedThing Myotonia of the lower limb Slowed relaxation of muscles in the leg. hp0009lx5z peter 2014-06-23T11:18:59Z UMLS:C4022684 human_phenotype owl:Class HP:0041186 biolink:NamedThing Fractured middle phalanx of pedal digit 3 A partial or complete breakage of the middle phalanx of pedal digit 3. hp0009lx5z bone middle phalanx of pedal digit 3 owl:Class HP:0000774 biolink:NamedThing Narrow chest Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. hp0009lx5z Reduced anterior-posterior chest diameter|Low chest circumference|Narrow shoulders|Narrow chest|Narrow thorax HP:0005252|HP:0006588|HP:0000909 SNOMEDCT_US:249671009|UMLS:C0426790 human_phenotype owl:Class HP:0005257 biolink:NamedThing Thoracic hypoplasia hp0009lx5z Small chest|Small thorax HP:0001590 UMLS:C1837482 human_phenotype owl:Class HP:0009139 biolink:NamedThing Osteolysis involving bones of the lower limbs hp0009lx5z peter 2008-04-17T02:52:00Z UMLS:C4024576 human_phenotype owl:Class HP:0500203 biolink:NamedThing Increased CSF arginine concentration Abnormally increased levels of arginine in cerebrospinal fluid. hp0009lx5z High arginine levels in cerebrospinal fluid 2019-02-25 17:12:38+00:00 owl:Class HP:0500202 biolink:NamedThing Abnormal CSF arginine concentration Any deviation from the normal concentration of arginine in the cerebrospinal fluid. hp0009lx5z Abnormal arginine levels in cerebrospinal fluid 2019-02-25 17:12:23+00:00 owl:Class HP:0033544 biolink:NamedThing Mesangial fibril deposition Extracellular mesangial accumulation of slender proteinaceous fibers. hp0009lx5z 2021-01-21 13:33:47+00:00 peter owl:Class HP:0100159 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 3rd toe hp0009lx5z Cone-shaped end part of the innermost bone of the 3rd toe doelkens 2010-06-24T10:24:45Z UMLS:C4022262 human_phenotype owl:Class HP:0100093 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 3rd toe hp0009lx5z Abnormality of the end part of the innermost bone of the 3rd toe doelkens 2010-06-24T10:02:07Z UMLS:C4022328 human_phenotype owl:Class HP:0002627 biolink:NamedThing Right aortic arch with mirror image branching The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. hp0009lx5z UMLS:C4025695 human_phenotype owl:Class HP:0007100 biolink:NamedThing Progressive ventriculomegaly hp0009lx5z UMLS:C1865119 owl:Class HP:0030160 biolink:NamedThing Cervicitis Inflammation of the uterine cervix. hp0009lx5z Uterine cervicitis|Uterine cervix inflammation Cervicitis, which most commonly presents as vaginal discharge or postcoital bleeding, can be acute or chronic, with an infectious or noninfectious etiology. SNOMEDCT_US:37610005|MSH:D002575|UMLS:C0007860 owl:Class HP:0000294 biolink:NamedThing Low anterior hairline Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. hp0009lx5z Low frontal hairline|Low-set frontal hairline This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. UMLS:C1842366 owl:Class HP:0000599 biolink:NamedThing Abnormality of the frontal hairline An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. hp0009lx5z Abnormality of the frontal hairline|Abnormality of hairline at front of head peter 2008-02-27T05:34:00Z UMLS:C4025839 owl:Class HP:0006794 biolink:NamedThing Loss of ability to walk in first decade hp0009lx5z Loss of ability to walk in first decade UMLS:C1846133 human_phenotype owl:Class HP:0004434 biolink:NamedThing Decreased serum complement C8 A reduced level of the complement component C8 in circulation. hp0009lx5z C8 deficiency The eighth component of complement (C8) plays an important role in the function of membrane attack complex (MAC) that is generated on target cells upon activation of the complement system. MAC is generated by sequential addition of C5b, C6, C7, C8, and C9 molecules, which results in the transmembrane pore and eventual cell lysis. Individuals with C8 deficiency tend to have recurrent neisserial infections. peter 2008-03-18T09:53:00Z UMLS:C3151082 owl:Class HP:0100194 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 4th toe hp0009lx5z Enlarged end part of the innermost bone of the 4th toe doelkens 2010-06-24T04:54:59Z UMLS:C4022227 human_phenotype owl:Class HP:0031059 biolink:NamedThing Impaired ability to bathe oneself This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing. hp0009lx5z 2017-05-28 22:16:30+00:00 peter owl:Class HP:0004808 biolink:NamedThing Acute myeloid leukemia A form of leukemia characterized by overproduction of an early myeloid cell. hp0009lx5z Acute myeloblastic leukemia|Acute myelogenous leukaemia|Acute myelocytic leukaemia|Acute myeloid leukaemia|AML|Acute myelocytic leukemia|Acute myelogenous leukemia|Acute myeloblastic leukaemia HP:0006724|HP:0001914|HP:0004843|HP:0005516|HP:0006728 UMLS:C0023467|SNOMEDCT_US:413443009|SNOMEDCT_US:91861009|SNOMEDCT_US:17788007|MSH:D015470 human_phenotype owl:Class HP:0004749 biolink:NamedThing Atrial flutter A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. hp0009lx5z Atrial flutter can lead to palpitations, fatigue, dyspnea, and chest pain. Atrial flutter can be paroxysmal or persistent. MSH:D001282|UMLS:C0004239|SNOMEDCT_US:5370000 human_phenotype owl:Class HP:0010095 biolink:NamedThing Partial duplication of the proximal phalanx of the hallux Partial duplication of the proximal phalanx of big toe. hp0009lx5z Partial duplication of the innermost bone of big toe doelkens 2009-05-29T12:18:59Z UMLS:C4024052 human_phenotype owl:Class HP:0010093 biolink:NamedThing Duplication of the proximal phalanx of the hallux Partial or complete duplication of the proximal phalanx of big toe. hp0009lx5z Duplication of the innermost bone of big toe doelkens 2009-05-29T12:17:16Z UMLS:C4024054 human_phenotype owl:Class HP:0500078 biolink:NamedThing Alternating hypotropia A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards. hp0009lx5z 2018-02-26 19:22:54+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0025584 biolink:NamedThing Hypotropia A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. hp0009lx5z 2018-01-13 19:39:59+00:00 HPO:probinson owl:Class HP:0006172 biolink:NamedThing Flattened, squared-off epiphyses of tubular bones hp0009lx5z Flattened, squared-off end part of tubular bones UMLS:C1834961 human_phenotype owl:Class HP:0003071 biolink:NamedThing Flattened epiphysis Abnormal flatness (decreased height) of epiphyses. hp0009lx5z Flat end part of bone|Flat epiphyses HP:0005076|HP:0004982|HP:0005051|HP:0005080 UMLS:C1857527 human_phenotype owl:Class HP:0009338 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 3rd finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the outermost bone of the 3rd finger doelkens 2009-01-12T11:18:33Z UMLS:C4024429 human_phenotype owl:Class HP:0012529 biolink:NamedThing Abnormal dense granule content A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. hp0009lx5z peter 2013-12-15T09:12:44Z UMLS:C4021839 human_phenotype owl:Class HP:0030770 biolink:NamedThing Craniorachischisis A neural tube defect in which both the brain and spinal cord remain open to varying degrees. hp0009lx5z MSH:D009436|UMLS:C0152426|SNOMEDCT_US:32219008 owl:Class HP:0045005 biolink:NamedThing Neural tube defect A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. hp0009lx5z Abnormality of neural tube closure HPO:skoehler UMLS:C0027794|MSH:D009436|SNOMEDCT_US:253098009 owl:Class HP:0100953 biolink:NamedThing Enlarged interhemispheric fissure hp0009lx5z Enlarged longitudinal cerebral fissure|Enlarged great longitudinal fissure|Enlarged longitudinal fissure doelkens 2011-12-02T04:49:49Z UMLS:C4020920 human_phenotype owl:Class HP:0012703 biolink:NamedThing Abnormal subarachnoid space morphology Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. hp0009lx5z Abnormality of the subarachnoid space peter 2014-03-22T07:45:24Z UMLS:C4022765 human_phenotype owl:Class HP:0001054 biolink:NamedThing Numerous nevi hp0009lx5z Numerous moles|Multiple pigmented nevi UMLS:C1849677 human_phenotype owl:Class HP:0410334 biolink:NamedThing Fungi allergy Hypersensitivity in form of an adverse immune reaction against fungus. hp0009lx5z Fungi allergy|IgE-mediated fungi allergy|Fungus allergy|Allergy to fungi|Fungal allergy|Immunoglobulin E-mediated fungi allergy owl:Class HP:0031422 biolink:NamedThing Abnormal cerebellar cortex morphology Any structural anomaly of the cortex of the cerebellum. hp0009lx5z Abnormal morphology of the cerebellar cortex 2017-09-16 11:13:15+00:00 peter owl:Class HP:0100478 biolink:NamedThing Symphalangism affecting the distal phalanx of the 5th toe hp0009lx5z Fused outermost bones of the pinky toe|Fused outermost bones of the little toe|Fused outermost bones of the pinkie toe UMLS:C4022049 human_phenotype owl:Class HP:0012127 biolink:NamedThing Uraciluria Increased concentration of uracil in the urine. hp0009lx5z High urine uracil levels hecht 2012-09-16T06:53:53Z UMLS:C4021833 human_phenotype owl:Class HP:0033162 biolink:NamedThing Abnormal urinary pyrimidine level Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines. hp0009lx5z 2020-09-24 09:15:07+00:00 peter owl:Class HP:0003687 biolink:NamedThing Centrally nucleated skeletal muscle fibers An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). hp0009lx5z Centralised nuclei|Centrally nucleated skeletal muscle fibres|Centralised sarcomeric nuclei|Centralized nuclei|Central nuclei|Centralized sarcomeric nuclei Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma). UMLS:C1842170 human_phenotype owl:Class HP:0001073 biolink:NamedThing Cigarette-paper scars Thin (atrophic) and wide scars. hp0009lx5z Cigarette paper scarring|Cigarette-paper scars|'cigarette paper scarring' Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows. UMLS:C1851828 human_phenotype owl:Class HP:0006692 biolink:NamedThing Short chordae tendineae of the tricuspid valve Abnormally short chordae tendineae of the tricuspid valve. hp0009lx5z The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve. UMLS:C4025001 human_phenotype owl:Class HP:0031442 biolink:NamedThing Abnormal tricuspid chordae tendinae morphology Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve. hp0009lx5z 2017-09-17 13:37:09+00:00 peter owl:Class HP:0000385 biolink:NamedThing Small earlobe Reduced volume of the earlobe. hp0009lx5z Hypoplastic lobules|Small earlobes|Hypoplastic earlobes|Small earlobe All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. HP:0008616 UMLS:C1842680 human_phenotype owl:Class HP:0009906 biolink:NamedThing Aplasia/Hypoplasia of the earlobes Absence or underdevelopment of the ear lobes. hp0009lx5z Absent/small ear lobes|Absent/underdeveloped ear lobes peter 2009-05-01T02:55:12Z UMLS:C1851792 human_phenotype owl:Class HP:0100685 biolink:NamedThing Abnormal Sharpey fiber morphology An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. hp0009lx5z Abnormal Sharpey fibre morphology|Abnormality of Sharpey fibres|Abnormality of Sharpey fibers|Enthesis abnormality doelkens 2010-12-30T02:25:32Z UMLS:C4020701|UMLS:C4021997 human_phenotype owl:Class HP:0032511 biolink:NamedThing Superiorly positioned umbilicus The position of the umbilicus (belly button) is abnormally high (superior). hp0009lx5z 2019-05-23 23:22:24+00:00 peter owl:Class HP:0000420 biolink:NamedThing Short nasal septum Reduced superior to inferior length of the nasal septum. hp0009lx5z Decreased length of nasal septum|Decreased length of septum of nose|Short septum of nose|Short nasal septum UMLS:C1844857 human_phenotype owl:Class HP:0005588 biolink:NamedThing Patchy palmoplantar hyperkeratosis A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected. hp0009lx5z Palmoplantar keratoderma, patchy|Patchy palmoplantar keratoderma Patchy palmoplantar keratoderma may develop at sites of recurrent friction. UMLS:C4021633 owl:Class HP:0033625 biolink:NamedThing Emotional insecurity A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening. hp0009lx5z 2021-01-30 23:12:23+00:00 It is difficult to give a precise definition of emotional insecurity, but it has beed defined as deficits in emotional reactivity (inability to develop an attitude of resistance or vigiliance in the presence of potentially threatening situations), behavior regulation (inappropriate behavioral response to threatening situations characterized by either overinvolvement in the situation or by the avoidance of it) and inappropriate internal representations (exaggerated conscious or unconscious schemas of potential danger). peter owl:Class HP:0031624 biolink:NamedThing Moderate myopia A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters. hp0009lx5z 2017-12-16 14:07:21+00:00 peter owl:Class HP:0000545 biolink:NamedThing Myopia An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. hp0009lx5z Close sighted|Nearsightedness|Near sightedness|Near sighted HP:0001110|HP:0008012|HP:0007847 SNOMEDCT_US:57190000|MSH:D009216|UMLS:C0027092 human_phenotype owl:Class HP:0005648 biolink:NamedThing Bilateral ulnar hypoplasia Underdevelopment of the ulna on both sides. hp0009lx5z May be a symmetric finding. UMLS:C4025166 human_phenotype owl:Class HP:0033934 biolink:NamedThing Arcuate vein intimal/medial storage material accumulation Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. hp0009lx5z Multilamellation (onion skinning) within arteriolar intima/media|Renal arteriole intima/media onion skinning 2021-06-24 01:25:46+00:00 peter owl:Class HP:0005423 biolink:NamedThing Dysfunctional alternative complement pathway An abnormality of the functioning of any aspect of the alternative complement pathway. hp0009lx5z UMLS:C1839458 human_phenotype owl:Class HP:0005482 biolink:NamedThing Abnormality of the alternative complement pathway A deviation in any aspect of the alternative complement pathway. hp0009lx5z The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin. peter 2008-03-26T08:12:00Z UMLS:C4025191 human_phenotype owl:Class HP:0030402 biolink:NamedThing Abnormal platelet aggregation An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. hp0009lx5z UMLS:C0541767 owl:Class HP:0410370 biolink:NamedThing Absence of ganglioside GM3 The absence of ganglioside GM3. hp0009lx5z owl:Class HP:0004343 biolink:NamedThing Abnormal glycosphingolipid metabolism An abnormality of glycosphingolipid metabolism. hp0009lx5z Abnormality of glycosphingolipid metabolism Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. A glycosphingolipid is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. peter 2008-03-08T08:35:00Z UMLS:C4025350 owl:Class HP:0100340 biolink:NamedThing Fibular deviation of the 4th toe hp0009lx5z doelkens 2010-11-11T03:41:54Z UMLS:C4022140 human_phenotype owl:Class HP:0007481 biolink:NamedThing Hyperpigmented nevi hp0009lx5z UMLS:C0746889 human_phenotype owl:Class HP:0025233 biolink:NamedThing Sleep paralysis An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes. hp0009lx5z 2016-12-14 11:44:36+00:00 HPO:probinson owl:Class HP:0033954 biolink:NamedThing Cortical radial artery hypercellularity Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. hp0009lx5z Endoarterial hypercellularity within interlobular artery 2021-06-24 12:26:44+00:00 peter owl:Class HP:0033952 biolink:NamedThing Abnormal cortical radial artery endothelium morphology Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. hp0009lx5z Abnormalities of the interlobular arterial endothelium 2021-06-24 12:21:16+00:00 peter owl:Class HP:0006417 biolink:NamedThing Broad femoral metaphyses hp0009lx5z Broad wide portion of thigh bone UMLS:C1864854 human_phenotype owl:Class HP:0002105 biolink:NamedThing Hemoptysis Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. hp0009lx5z Haemoptysis|Coughing up blood|Coughing up blood or blood-stained mucus SNOMEDCT_US:6686005|UMLS:C0019079|MSH:D006469|SNOMEDCT_US:66857006 human_phenotype owl:Class HP:0008097 biolink:NamedThing Partial fusion of tarsals hp0009lx5z UMLS:C1844520 human_phenotype owl:Class HP:0008368 biolink:NamedThing Tarsal synostosis Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). hp0009lx5z Synostosis of tarsal bones|Tarsal fusions|Fused ankle bones|Synostosis involving tarsal bones|Tarsal fusion|Tarsal bone synostosis|Tarsal bone fusion peter 2008-04-04T11:52:00Z HP:0001957|HP:0100330|HP:0008092|HP:0001851 MSH:D000070604|UMLS:C0265654|SNOMEDCT_US:27173008 human_phenotype owl:Class HP:0100420 biolink:NamedThing Partial duplication of the middle phalanx of the 4th toe Partial duplication of middle phalanx of fourth toe. hp0009lx5z Partial duplication of the middle phalanx of the fourth toe|Partial duplication of the middle bone of the 4th toe UMLS:C4020979 human_phenotype owl:Class HP:0032789 biolink:NamedThing Focal aware behavior arrest seizure A focal behavior arrest seizure characterised by retained awareness throughout the seizure. hp0009lx5z Focal aware behaviour arrest seizure peter owl:Class HP:0025507 biolink:NamedThing Yellow papule A papule with yellow color. hp0009lx5z Yellow-orange papule 2017-05-14 23:29:49+00:00 The yellow color may be related to lipid accumulation such as xanthomata or sebaceous gland lesions. This term additionally includes lesions described as yellow-orange. HPO:probinson owl:Class HP:0008696 biolink:NamedThing Renal hamartoma A disordered proliferation of mature tissues that are native to the kidneys. hp0009lx5z UMLS:C1840396 human_phenotype owl:Class HP:0010027 biolink:NamedThing Broad 1st metacarpal Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Wide 1st long bone of hand doelkens 2009-05-27T04:24:30Z UMLS:C4024097 human_phenotype owl:Class HP:0002071 biolink:NamedThing Abnormality of extrapyramidal motor function A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). hp0009lx5z Extrapyramidal tract signs|Extrapyramidal symptoms|Extrapyramidal signs|Extrapyramidal syndrome|Extrapyramidal dysfunction The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. HP:0006810|HP:0007113 MSH:D001480|SNOMEDCT_US:76349003|UMLS:C0234133|UMLS:C0015371|SNOMEDCT_US:43378000 owl:Class HP:0033649 biolink:NamedThing Paraseptal emphysema Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae. hp0009lx5z Distal acinar emphysema 2021-02-24 12:52:39+00:00 See Figure 47 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0032720 biolink:NamedThing Focal motor seizure with dysarthria/anarthria A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible. hp0009lx5z peter owl:Class HP:0100797 biolink:NamedThing Toenail dysplasia An abnormality of the development of the toenails. hp0009lx5z Dysplastic toenails|Abnormal toenail development doelkens 2011-06-08T04:23:37Z UMLS:C3276623 human_phenotype owl:Class HP:0410381 biolink:NamedThing Abnormal proportion of central memory CD4-positive, alpha-beta T cells An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z owl:Class HP:0008771 biolink:NamedThing Aplasia/Hypoplasia of the ear The presence of aplasia or developmental hypoplasia of the ear. hp0009lx5z Absent/underdeveloped ear|Absent/small ear peter 2008-04-04T05:44:00Z UMLS:C4024627 human_phenotype owl:Class HP:0025520 biolink:NamedThing Calcinosis cutis Deposition of calcium in the skin. hp0009lx5z Cutaneous calcification 2017-05-17 22:39:47+00:00 The lesions observed incalcinosis cutis are firm papules, plaues, or nodules that have a whitish or yellowish color. Lesions may be solitary but it is more common to observe multiple lesions. The lesions may develop ulceration with a discharge of a chalk-like substance. The lesions can be painful, espcially if they are located on the fingertips. Lesions at other sites may limit joint mobility or stiffen the skin. HPO:probinson owl:Class HP:0033956 biolink:NamedThing Cortical radial artery lymphocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. hp0009lx5z Endoarterial hypercellularity within interlobular artery consisting of lymphocytes 2021-06-24 12:29:21+00:00 peter owl:Class HP:0033955 biolink:NamedThing Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). hp0009lx5z Endoarterial hypercellularity within interlobular artery consisting of leukocytes 2021-06-24 12:28:14+00:00 peter owl:Class HP:0011676 biolink:NamedThing Tetralogy of Fallot with absent subarterial conus hp0009lx5z peter 2012-04-10T07:40:33Z UMLS:C4023236 human_phenotype owl:Class HP:0011893 biolink:NamedThing Abnormal leukocyte count Number of leukocytes per volume of blood beyond normal limits. hp0009lx5z Abnormal white blood cell count peter 2012-06-02T05:32:39Z SNOMEDCT_US:165509000|UMLS:C0580531 human_phenotype owl:Class HP:0006531 biolink:NamedThing Pleural lymphangiectasia hp0009lx5z UMLS:C1856139 human_phenotype owl:Class HP:0031842 biolink:NamedThing Lymphangiectasis Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma. hp0009lx5z Lymphangiectasia 2018-05-05 14:44:27+00:00 peter owl:Class HP:0000793 biolink:NamedThing Membranoproliferative glomerulonephritis A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity hp0009lx5z MPGN|Mesangiocapillary glomerulonephritis MSH:D015432|SNOMEDCT_US:80321008|UMLS:C0017662 human_phenotype owl:Class HP:0009840 biolink:NamedThing Patchy sclerosis of distal phalanx of finger Uneven (irregular) increase in bone density of the distal phalanges of the hand. hp0009lx5z Uneven increase in bone density in outermost finger bone|Patchy sclerosis of the distal phalanges of the hand doelkens 2009-03-11T12:10:11Z HP:0009868 UMLS:C4021384 human_phenotype owl:Class HP:0007096 biolink:NamedThing Hypoplasia of the optic tract hp0009lx5z Underdeveloped optic tract UMLS:C1856654 human_phenotype owl:Class HP:0011000 biolink:NamedThing Aplasia/Hypoplasia of the optic tract hp0009lx5z Absent/underdeveloped optic tract|Absent/small optic tract sdoelken 2011-02-13T11:28:43Z UMLS:C4023602 human_phenotype owl:Class HP:0033175 biolink:NamedThing Elevated circulating 5-oxoproline concentration Concentration of L-pyroglutamic acid in the blood is above the normal range. hp0009lx5z Elevated circulating L-pyroglutamic acid concentration 2020-09-24 10:49:50+00:00 5-oxoproline is an oxoproline having the oxo group placed at the 5-position. It is an intermediate metabolite in the glutathione cycle. peter owl:Class HP:0030926 biolink:NamedThing 5-minute APGAR score of 6 hp0009lx5z 2016-11-07 18:15:03+00:00 robinp owl:Class HP:0030919 biolink:NamedThing Low 5-minute APGAR score hp0009lx5z Low five-minute APGAR score 2016-11-07 18:06:42+00:00 A normal APGAR score can be coded as 'not Low 5-minute APGAR score'. robinp owl:Class HP:0012786 biolink:NamedThing Recurrent cystitis Repeated infections of the urinary bladder. hp0009lx5z Recurrent bladder infections One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months. peter 2014-04-22T09:18:06Z UMLS:C0581366|SNOMEDCT_US:197853008 human_phenotype owl:Class HP:0000010 biolink:NamedThing Recurrent urinary tract infections Repeated infections of the urinary tract. hp0009lx5z Urinary tract infections|Urinary tract infections, recurrent|Recurrent UTIs|Repeated urinary tract infections|Frequent urinary tract infections|Repeated bladder infections The urinary tract comprises the kidneys, ureters, a bladder, and a urethra. HP:0000094 UMLS:C0262655|SNOMEDCT_US:197927001 human_phenotype owl:Class HP:0009815 biolink:NamedThing Aplasia/hypoplasia of the extremities Absence (due to failure to form) or underdevelopment of the extremities. hp0009lx5z Absent/small extremities|Absent/underdeveloped extremities|Short or absent limbs|Shortened limbs doelkens 2009-02-23T05:06:40Z HP:0006497|HP:0002969 UMLS:C0239399 human_phenotype owl:Class HP:0100404 biolink:NamedThing Duplication of the proximal phalanx of the 3rd toe Partial or complete duplication of proximal phalanx of third toe. hp0009lx5z Duplication of the proximal phalanx of the third toe|Duplication of the innermost 3rd toe bone|Partial/complete duplication of the proximal phalanx of the 3rd toe UMLS:C4020993 human_phenotype owl:Class HP:0010211 biolink:NamedThing Duplication of proximal phalanx of toe Partial/complete duplication of a proximal phalanx of toe. hp0009lx5z Partial/complete duplication of the proximal phalanges of the toes|Duplication of innermost toe bones doelkens 2009-05-29T01:54:18Z UMLS:C4021312 human_phenotype owl:Class HP:0033713 biolink:NamedThing Anti-signal recognition particle antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle. hp0009lx5z 2021-04-07 11:44:02+00:00 peter owl:Class HP:0010361 biolink:NamedThing Bullet-shaped 3rd toe phalanx An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped phalanges of the 3rd toe|Bullet-shaped bones of 3rd toe doelkens 2009-07-16T11:51:17Z UMLS:C4021285 human_phenotype owl:Class HP:0010175 biolink:NamedThing Bullet-shaped toe phalanx An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped toe bone|Bullet-shaped phalanges of the toes doelkens 2009-05-29T01:39:26Z UMLS:C4021331 human_phenotype owl:Class HP:0011326 biolink:NamedThing Anterior plagiocephaly Asymmetry of the anterior part of the skull. hp0009lx5z Deformational anterior plagiocephaly|Positional anterior plagiocephaly|Unicoronal craniosynostosis|Frontal plagiocephaly|Positional frontal plagiocephaly|Coronal synostosis|Deformational frontal plagiocephaly|Anterior flat head syndrome Anterior plagiocephaly may have synostotic or non-synostotic causes. peter 2012-02-25T02:10:41Z UMLS:C4280329|UMLS:C4023413|SNOMEDCT_US:254020001|UMLS:C4280330|UMLS:C0432124|UMLS:C4280328 human_phenotype owl:Class HP:0001357 biolink:NamedThing Plagiocephaly Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. hp0009lx5z Rhomboid shaped head|Positional plagiocephaly|Flattening of cranium|Flattening of cranial vault|Deformational plagiocephaly|Flattening of head|Flat head|Rhomboid shaped cranium|Asymmetry of the posterior head|Flat head syndrome|Asymmetry of the posterior cranium|Rhomboid shaped skull|Asymmetry of the posterior skull|Flattening of skull Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. HP:0001121 UMLS:C0265529|MSH:D049068|UMLS:C4280807|UMLS:C1450010|UMLS:C4280597|SNOMEDCT_US:254024005|UMLS:C4072830|MSH:D059041|UMLS:C4280598|SNOMEDCT_US:21850008 owl:Class HP:0010582 biolink:NamedThing Irregular epiphyses An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. hp0009lx5z Irregular end part of long bone sandra1 2009-10-22T02:53:19Z HP:0010581|HP:0002765|HP:0005007|HP:0005023|HP:0005749|HP:0003039 UMLS:C1846449 human_phenotype owl:Class HP:0010081 biolink:NamedThing Patchy sclerosis of the distal phalanx of the hallux hp0009lx5z Uneven increase in bone density in the outermost bone of big toe doelkens 2009-05-29T12:16:28Z UMLS:C4024064 human_phenotype owl:Class HP:0030304 biolink:NamedThing Abnormal number of vertebrae A deviation from the normal number of vertebrae in the spinal column. hp0009lx5z UMLS:C4022523 owl:Class HP:0041052 biolink:NamedThing Agenesis of putamen A developmental defect characterized by the absence of the putamen owing to its failure to develop. hp0009lx5z The basal ganglia are symmetrical subcortical grey nuclei at the core of the extrapyramidal system, composed by the striatum (which comprises the putamen, caudate nucleus, olfactory tubercle, and nucleus accumbens), the pallidum, the substantia nigra, and the subthalamic nucleus. Congenital malformations of the basal ganglia deriving from defects of embryogenesis are very rare. The basal ganglia embryologically derive from the prosencephalon (or forebrain), the most rostral of the three vesicles originating from early patterning of the neural tube along the anterior-posterior axis. owl:Class HP:0031982 biolink:NamedThing Abnormal putamen morphology Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum. hp0009lx5z 2018-07-08 13:26:57+00:00 peter owl:Class HP:0009073 biolink:NamedThing Progressive proximal muscle weakness Lack of strength of the proximal muscles that becomes progressively more severe. hp0009lx5z Muscle weakness, progressive, proximal Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. HP:0008965 UMLS:C1836156 human_phenotype owl:Class HP:0003323 biolink:NamedThing Progressive muscle weakness hp0009lx5z Progressive muscular weakness|Muscle weakness, progressive HP:0009032 UMLS:C0240421 human_phenotype owl:Class HP:0009669 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the thumb Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Irregular end part of thumb innermost long bone doelkens 2009-01-30T09:17:13Z UMLS:C4024248 human_phenotype owl:Class HP:0002573 biolink:NamedThing Hematochezia The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. hp0009lx5z Rectal bleeding|Recurrent rectal bleeding Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. HP:0002609|HP:0002255 UMLS:C0018932|MSH:D006471|SNOMEDCT_US:236068001|SNOMEDCT_US:405729008 human_phenotype owl:Class HP:0025085 biolink:NamedThing Bloody diarrhea Passage of many stools containing blood. hp0009lx5z Bloody bowel movement|Bloody diarrhea|Bloody diarrhoea|Blood in stool|Bloody stool 2016-10-15 13:58:14+00:00 Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea. HPO:probinson owl:Class HP:0032134 biolink:NamedThing Chronic decreased circulating total IgG A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. hp0009lx5z Chronic decreased total IgG in blood 2018-11-22 14:09:15+00:00 peter owl:Class HP:0032132 biolink:NamedThing Decreased circulating total IgG A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. hp0009lx5z 2018-11-22 14:04:50+00:00 Reductions in total IgG levels in adolescents or adults may be classified as mild-moderate (300-600 mg/dL), significant (100-299 mg/dL), or profoundly reduced (less than 100 mg/dL). In adolescents and adults, a total immunoglobulin (IgG + IgM + IgA) level greater than 600 mg/dL, with confirmed normal antibody responses, probably excludes humoral deficiency. Total immunoglobulin levels of 400 to 600 mg/dL or IgG levels of 200 to 400 mg/dL may contain adequate amounts of antibody; this becomes less likely if total immunoglobulin levels are less than 400 mg/dL or serum IgG levels are less than 200 mg/dL. peter owl:Class HP:0000664 biolink:NamedThing Synophrys Meeting of the medial eyebrows in the midline. hp0009lx5z Unibrow|Synophris|Monobrow HP:0002210 UMLS:C0431447|SNOMEDCT_US:253207002 human_phenotype owl:Class HP:0100723 biolink:NamedThing Gastrointestinal stroma tumor hp0009lx5z Gastrointestinal stromal tumour|GI stroma tumour|Gastrointestinal stromal tumours|Gastrointestinal stroma tumour|GIST|Gastrointestinal stromal tumor|GI stroma tumor|Gastrointestinal stromal tumors doelkens 2011-06-06T02:49:58Z SNOMEDCT_US:128755003|SNOMEDCT_US:420120006|UMLS:C0238198|MSH:D046152 human_phenotype owl:Class HP:0031758 biolink:NamedThing Lateral rectus muscle restriction Mechanical limitation of the range of movement of the lateral rectus muscle. hp0009lx5z 2018-01-21 14:33:00+00:00 peter owl:Class HP:0031750 biolink:NamedThing Lateral rectus muscle weakness Decreased strength (ability to move) of the lateral rectus muscle. hp0009lx5z 2018-01-21 14:21:25+00:00 peter owl:Class HP:0005042 biolink:NamedThing Irregular, rachitic-like metaphyses hp0009lx5z UMLS:C1866700 human_phenotype owl:Class HP:0003025 biolink:NamedThing Metaphyseal irregularity Irregularity of the normally smooth surface of the metaphyses. hp0009lx5z Metaphyseal fraying|Frayed, irregular metaphyses|Irregular metaphyses|Metaphyseal irregularities|Irregular wide portion of a long bone|Frayed, irregular, metaphyses HP:0005032|HP:0004995|HP:0005038|HP:0005896|HP:0005078|HP:0005065|HP:0005058|HP:0005016|HP:0005062|HP:0003017 UMLS:C1838662 human_phenotype owl:Class HP:0025317 biolink:NamedThing Cubitus varus A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body. hp0009lx5z 2017-01-13 13:20:56+00:00 Normally, if the arm is held in full extension, the forearm is aligned in valgus with respect to the arm. A decrease in valgus with neutral alignment (loss of angulation) is called cubitus rectus, and a further decreases is called varus. Cubitus varus may be congenital (often progressive), or may be a complication of humerus fracture, trochlear osteonecrosis, and malunited intercondylar fracture. Radiographically, the metaphyseo-diaphyseal angle is normally 90 degrees. With cubitus varus, the angle is larger, with cubitus valgus, the angle is smaller. HPO:probinson owl:Class HP:0030284 biolink:NamedThing Triangular tongue A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle. hp0009lx5z Triangle shaped tongue|Triangular tongue UMLS:C4022537 owl:Class HP:0000158 biolink:NamedThing Macroglossia Increased length and width of the tongue. hp0009lx5z Increased size of tongue|Large tongue|Abnormally large tongue|Tongue hypertrophy|Lingual hypertrophy|Hypertrophy of the tongue|Glossal hypertrophy|Lingual hyperplasia|Hyperplasia of the tongue Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue. HP:0000203 MSH:D008260|SNOMEDCT_US:25273001|UMLS:C0024421 human_phenotype owl:Class HP:0002138 biolink:NamedThing Subarachnoid hemorrhage Hemorrhage occurring between the arachnoid mater and the pia mater. hp0009lx5z Subarachnoid haemorrhage Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. SNOMEDCT_US:21454007|MSH:D013345|UMLS:C0038525 human_phenotype owl:Class HP:0011443 biolink:NamedThing Abnormality of coordination hp0009lx5z Abnormality of coordination|Coordination issue peter 2012-03-18T02:40:46Z UMLS:C4023353 owl:Class HP:0100413 biolink:NamedThing Complete duplication of the proximal phalanx of the 3rd toe Complete duplication of proximal phalanx of third toe. hp0009lx5z Complete duplication of the innermost 3rd toe bone UMLS:C4022105 human_phenotype owl:Class HP:0005374 biolink:NamedThing Cellular immunodeficiency An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. hp0009lx5z HP:0005375 UMLS:C1855204 human_phenotype owl:Class HP:0002721 biolink:NamedThing Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. hp0009lx5z Decreased immune function|Immune deficiency HP:0005371|HP:0005362 MSH:D007153|UMLS:C0021051|SNOMEDCT_US:234532001 human_phenotype owl:Class HP:0032421 biolink:NamedThing Decreased HDL2a concentration A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. hp0009lx5z 2019-03-02 13:41:26+00:00 peter owl:Class HP:0032419 biolink:NamedThing Abnormal HDL2a concentration Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. hp0009lx5z 2019-03-02 13:30:55+00:00 peter owl:Class HP:0007813 biolink:NamedThing Nongranulomatous uveitis A form of uveitis that is not associated with the formation of granulomas. hp0009lx5z UMLS:C4024795 human_phenotype owl:Class HP:0002372 biolink:NamedThing Normal interictal EEG Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. hp0009lx5z UMLS:C1843146 human_phenotype owl:Class HP:0000369 biolink:NamedThing Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. hp0009lx5z Low set ears|Lowset ears|Melotia|Low-set ears SNOMEDCT_US:95515009|UMLS:C0239234 human_phenotype owl:Class HP:0031319 biolink:NamedThing Cardiomyocyte hypertrophy An abnormal increase in the volume of cardiac myocytes. hp0009lx5z Myocyte cellular hypertrophy 2017-08-27 11:58:21+00:00 Adult cardiac myocytes are highly specialized, terminally differentiated cells which have lost the ability to divide. The increase in heart muscle mass seen in cardiac hypertrophy occurs predominantly through an increase in myocyte size rather than number. Hypertrophy is the principal response of the heart to overload from any cause, including hypertension, myocardial infarction, valvar heart disease, and dilated cardiomyopathy. peter owl:Class HP:0031188 biolink:NamedThing Genital edema A buildup of fluid that causes swelling in the soft tissues of the genital area. hp0009lx5z Genital oedema 2017-06-24 12:59:46+00:00 peter owl:Class HP:0032978 biolink:NamedThing Lipid-laden macrophages in bronchoalveolar fluid Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions. hp0009lx5z peter owl:Class HP:0007232 biolink:NamedThing Spinocerebellar tract disease in lower limbs hp0009lx5z UMLS:C4024919 human_phenotype owl:Class HP:0002503 biolink:NamedThing Spinocerebellar tract degeneration hp0009lx5z Spinocerebellar degeneration|Degeneration of the spinocerebellar tracts UMLS:C1866751 human_phenotype owl:Class HP:0004002 biolink:NamedThing Flattened radial epiphyses hp0009lx5z UMLS:C4025455 human_phenotype owl:Class HP:0030861 biolink:NamedThing Decreased CSF amyloid level Reduced concentration of amyloid in the cerebrospinal fluid (CSF). hp0009lx5z UMLS:C4280739 owl:Class HP:0041187 biolink:NamedThing Fractured proximal phalanx of pedal digit 1 A partial or complete breakage of the proximal phalanx of pedal digit 1. hp0009lx5z bone proximal phalanx of pedal digit 1 owl:Class HP:0007651 biolink:NamedThing Ectropion of lower eyelids hp0009lx5z Everted lower eyelids|Lower eyelid turned out|Lower eyelid folded out SNOMEDCT_US:95758006|UMLS:C0521736|UMLS:C4020808 human_phenotype owl:Class HP:0003179 biolink:NamedThing Protrusio acetabuli Intrapelvic bulging of the medial acetabular wall. hp0009lx5z Abnormally indented hip sockets|Protrusio acetabulae Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head. UMLS:C0409495|SNOMEDCT_US:59606006 owl:Class HP:0010424 biolink:NamedThing Complete duplication of the distal phalanx of the 2nd toe Complete duplication of the distal phalanx of second toe. hp0009lx5z Complete duplication of the outermost bone of the 2nd toe doelkens 2009-07-16T12:57:27Z UMLS:C4023835 human_phenotype owl:Class HP:0010429 biolink:NamedThing Complete duplication of the phalanges of the 2nd toe Complete duplication of a phalanx of second toe. hp0009lx5z Complete duplication of the 2nd toe bones doelkens 2009-07-16T04:07:33Z UMLS:C4023830 human_phenotype owl:Class HP:0007494 biolink:NamedThing Discrete 2 to 5-mm hyper- and hypopigmented macules hp0009lx5z UMLS:C1851552 human_phenotype owl:Class HP:0007441 biolink:NamedThing Hyperpigmented/hypopigmented macules hp0009lx5z UMLS:C4024877 human_phenotype owl:Class HP:0001047 biolink:NamedThing Atopic dermatitis Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. hp0009lx5z Baby eczema|Dermatitis, Atopic|Atopic dermatitis, chronic In infants, atopic dermatitis is known as infantile eczema. HP:0007564|HP:0007533 MSH:D003876|UMLS:C0011615|UMLS:C4280605|SNOMEDCT_US:200775004|SNOMEDCT_US:24079001 human_phenotype owl:Class HP:0012003 biolink:NamedThing Affective epileptic aura Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. hp0009lx5z Affective auras|Affective aura|Emotional aura hecht 2012-07-20T11:52:11Z UMLS:C4023086 owl:Class HP:0032711 biolink:NamedThing Focal aware clonic seizure A type of focal clonic seizure during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0025576 biolink:NamedThing Abnormal inferior vena cava morphology Any structural anomaly of the principal vein draining blood from the lower portion of the body. hp0009lx5z 2017-12-15 23:02:17+00:00 HPO:probinson Fyler:2810 owl:Class HP:0100800 biolink:NamedThing Aplasia/Hypoplasia of the pancreas A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. hp0009lx5z Absent/small pancreas|Absent/underdeveloped pancreas doelkens 2011-06-09T11:45:58Z UMLS:C4021968 human_phenotype owl:Class HP:0012094 biolink:NamedThing Abnormal pancreas size A deviation from the normal size of the pancreas. hp0009lx5z Abnormal pancreas size peter 2012-08-20T09:19:08Z UMLS:C4023046 human_phenotype owl:Class HP:0004835 biolink:NamedThing Microspherocytosis The presence of erythrocytes that are sphere-shaped and reduced in size. hp0009lx5z UMLS:C4025285 human_phenotype owl:Class HP:0004444 biolink:NamedThing Spherocytosis The presence of erythrocytes that are sphere-shaped. hp0009lx5z Erythrocytes are normally biconcave rather than spherical. peter 2008-03-18T10:05:00Z HP:0004816 SNOMEDCT_US:17235000|UMLS:C0553720 human_phenotype owl:Class HP:0000633 biolink:NamedThing Decreased lacrimation Abnormally decreased lacrimation, that is, reduced ability to produce tears. hp0009lx5z Decreased tear secretion UMLS:C0235857 human_phenotype owl:Class HP:0410286 biolink:NamedThing Positive blood molindone test Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia. hp0009lx5z Positive blood Moban test 2018-12-04 02:07:58+00:00 owl:Class HP:0011728 biolink:NamedThing Elbow clonus Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint. hp0009lx5z peter 2012-04-17T08:56:48Z UMLS:C4023217 human_phenotype owl:Class HP:0001717 biolink:NamedThing Coronary artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery. hp0009lx5z UMLS:C1611184|SNOMEDCT_US:445512009 owl:Class HP:0100356 biolink:NamedThing Contracture of the metatarsophalangeal joint of the 2nd toe The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively. hp0009lx5z UMLS:C4022129 human_phenotype owl:Class HP:0010327 biolink:NamedThing Flexion contracture of the 2nd toe One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively. hp0009lx5z Joint contractures of the 2nd toe doelkens 2009-07-16T11:40:18Z UMLS:C4021296 human_phenotype owl:Class HP:0031581 biolink:NamedThing Tessier number 9 facial cleft This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa. hp0009lx5z 2017-10-14 12:48:09+00:00 peter owl:Class HP:0031574 biolink:NamedThing Orbital cleft A facial cleft characterized by involvement of the orbit. hp0009lx5z 2017-10-14 12:37:52+00:00 peter owl:Class HP:0011188 biolink:NamedThing Focal EEG discharges with secondary generalization Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp. hp0009lx5z Focal EEG discharges with secondary generalisation hecht 2011-11-19T10:44:33Z UMLS:C4023486 human_phenotype owl:Class HP:0500220 biolink:NamedThing Increased CSF tyrosine concentration Abnormally increased levels of tyrosine in cerebrospinal fluid. hp0009lx5z High tyrosine levels in cerebrospinal fluid 2019-02-25 19:53:00+00:00 owl:Class HP:0000603 biolink:NamedThing Central scotoma An area of depressed vision located at the point of fixation and that interferes with central vision. hp0009lx5z Blind spot located at fixation point|Central blind spot|Central scotomata SNOMEDCT_US:38950008|MSH:D012607|UMLS:C0152191|UMLS:C4280624 human_phenotype owl:Class HP:0033722 biolink:NamedThing Autonomic epileptic aura An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region. hp0009lx5z Autonomic aura|Vegetative aura|Autonomic auras 2021-04-07 13:09:47+00:00 As an aura, its manifestation is purely subjective, conversely the initial manifestation of a focal autonomic seizure (HP:0011154) may be objective (a physical sign) or subjective (a symptom). Consider the following additional more specific annotations: types of 'focal aware autonomic seizure' (HP:0032740) if the aura occurs as the sole manifestation of the seizure, types of 'focal impaired awareness autonomic seizure' (HP:0032755) if the seizure progresses with impairment of awareness, and 'bilateral tonic-clonic seizure with focal onset' (HP:0007334) if the seizure propagates into a bilateral tonic-clonic seizure. peter owl:Class HP:0033348 biolink:NamedThing Epileptic aura An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure. hp0009lx5z 2020-11-30 21:50:04+00:00 peter owl:Class HP:0020170 biolink:NamedThing Increased blood drug concentration High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. hp0009lx5z Increased plasma drug concentration|Elevated serum drug concentrations|Elevated plasma drug concentration|Increased serum drug concentration|Elevated blood drug concentration robinp 2019-07-06 21:41:53+00:00 owl:Class HP:0020169 biolink:NamedThing Abnormal drug response An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy. hp0009lx5z robinp 2019-07-06 21:39:59+00:00 owl:Class HP:0010437 biolink:NamedThing Short proximal phalanx of the 2nd toe Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia. hp0009lx5z Short innermost 2nd toe bone|Short proximal phalanx of the second toe|Hypoplastic/small proximal phalanx of the 2nd toe doelkens 2009-07-16T04:29:25Z UMLS:C4021265 human_phenotype owl:Class HP:0012270 biolink:NamedThing Decreased muscle glycogen content A decreased amount of glycogen in muscle tissue. hp0009lx5z peter 2013-04-07T02:05:15Z UMLS:C4022979 human_phenotype owl:Class HP:0012269 biolink:NamedThing Abnormal muscle glycogen content Any anomaly in the amount of glycogen in muscle tissue. hp0009lx5z Glycogen functions as a secondary short term energy storage in muscle. peter 2013-04-07T02:04:03Z UMLS:C4022980 human_phenotype owl:Class HP:0010659 biolink:NamedThing Patchy variation in bone mineral density Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. hp0009lx5z Patchy increased and decreased bone mineral density doelkens 2010-02-25T10:49:23Z UMLS:C4021245 human_phenotype owl:Class HP:0032855 biolink:NamedThing Photosensitive myoclonic-tonic-clonic seizure Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light. hp0009lx5z Photically induced myoclonic-tonic-clonic seizure peter owl:Class HP:0020216 biolink:NamedThing Visually-induced seizure Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. hp0009lx5z Photosensitive seizure robinp 2020-02-24 13:55:09+00:00 owl:Class HP:0011107 biolink:NamedThing Recurrent aphthous stomatitis Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. hp0009lx5z Buccal aphthous ulcers|Aphthous stomatitis|Recurrent aphthous ulcers|Recurrent oral aphthae|Recurrent canker sores Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa. peter 2011-06-08T07:11:09Z SNOMEDCT_US:398870000|UMLS:C2937365|SNOMEDCT_US:110426005|SNOMEDCT_US:426965005|MSH:D013281|UMLS:C0038363|SNOMEDCT_US:427617000 owl:Class HP:0032154 biolink:NamedThing Aphthous ulcer Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. hp0009lx5z Canker sore 2018-12-02 14:06:55+00:00 peter owl:Class HP:0000174 biolink:NamedThing Abnormal palate morphology Any abnormality of the palate, i.e., of roof of the mouth. hp0009lx5z Abnormality of the roof of the mouth|Palatal anomaly|Abnormality of the palate|Palate abnormality UMLS:C4021815 human_phenotype owl:Class HP:0032147 biolink:NamedThing Erythromelalgia Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. hp0009lx5z 2018-12-02 12:02:08+00:00 Warmth, ambulation, physical exercise, sitting, leg dependence and wearing shoes or gloves can provoke and aggravate symptoms while immersion in ice/cold water, uncovering affected areas, ventilation and elevation can ameliorate these symptoms. Pain attacks usually start with an itchy-like feeling and then progress to a severe burning sensation as was reported by most patients, with the durations of which ranging from several minutes to hours and even days. Erythromelalgia can be a Mendelian trait or can be triggered by polycythemia vera, lymphoproliferative disorders, hypertension, and hyperviscosity. peter owl:Class HP:0040266 biolink:NamedThing Proximal upper limb muscle hypertrophy hp0009lx5z UMLS:C4280686 owl:Class HP:0030853 biolink:NamedThing Heterotaxy An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. hp0009lx5z Heterotaxia In the normal body, the internal organs are arranged in different patterns on the right and left sides, and are not mirror images of each other. Hence, if asymmetry of the thoracic and abdominal organs is the usual or normal situation, the syndrome of visceral heterotaxy includes patients with an unusual degree of symmetry of some of the thoracic and abdominal organs, and the atrial appendages within the heart. SNOMEDCT_US:24614000|SNOMEDCT_US:14821001|Fyler:190|MSH:D059446|Fyler:0190|UMLS:C0266642 owl:Class HP:0032937 biolink:NamedThing Recurrent, involuntary and intrusive distressing memories After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory. hp0009lx5z peter owl:Class HP:0040046 biolink:NamedThing Abnormal left hemidiaphragm morphology hp0009lx5z Abnormality of the left hemidiaphragm HPO:skoehler UMLS:C4022471 owl:Class HP:0040045 biolink:NamedThing Abnormal hemidiaphragm morphology hp0009lx5z Abnormality of the hemidiaphragms HPO:skoehler UMLS:C4022472 owl:Class HP:0006879 biolink:NamedThing Pontocerebellar atrophy Atrophy affecting the pons and the cerebellum. hp0009lx5z Cerebellopontine atrophy UMLS:C1853766 owl:Class HP:0009606 biolink:NamedThing Complete duplication of distal phalanx of the thumb Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. hp0009lx5z Complete duplication of outermost bone of the thumb doelkens 2009-01-29T03:28:16Z HP:0005784|HP:0004084 UMLS:C4021427 human_phenotype owl:Class HP:0032611 biolink:NamedThing Renal tubular epithelial cell hemosiderin Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. hp0009lx5z Renal tubular epithelial cells process reabsorbed urinary hemoglobin to hemosiderin. peter owl:Class HP:0008968 biolink:NamedThing Muscle hypertrophy of the lower extremities Muscle hypertrophy primarily affecting the legs. hp0009lx5z UMLS:C1850663 human_phenotype owl:Class HP:0032282 biolink:NamedThing Contact dermatitis An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis. hp0009lx5z 2019-01-27 23:19:54+00:00 peter owl:Class HP:0005793 biolink:NamedThing Shortening of all distal phalanges of the toes Abnormally short distal phalanx of toe of all toes. hp0009lx5z Shortening of all outermost bone of the toes UMLS:C4025132 human_phenotype owl:Class HP:0100944 biolink:NamedThing Sclerosis of the distal phalanx of the hallux hp0009lx5z Increased bone density in the outermost bone of the big toe UMLS:C4021914 human_phenotype owl:Class HP:0030158 biolink:NamedThing Cervical ectropion Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu hp0009lx5z Cervical erosion|Cervical ectopy The upper cervix (endocervix) is lined by a simple columnar epithelium that contains mucous-secreting cells. In contrast, the lower cervix (ectocervix) is lined by a stratified squamous epithelium. The transition point between these two epithelia is known as the external os. Cervical ectropion is the presence of columnar cells on the ectocervix, which is normally composed of a squamous epithelium. Potential causes of ectropion include adolescent age, pregnancy, and hormonal contraceptives.5 Some clinicians believe ectropion could be a normal asymptomatic variant, whereas others believe it to be correlated with chronic cervicitis.5 The presence of the metaplastic columnar epithelium can manifest a myriad of symptoms including increased vaginal discharge, leukorrhea, postcoital bleeding, pelvic pain, recurrent cervicitis, and dyspareunia. SNOMEDCT_US:79342006|SNOMEDCT_US:61253004|UMLS:C0007869|UMLS:C0269189|MSH:D002579 owl:Class HP:0002705 biolink:NamedThing High, narrow palate The presence of a high and narrow palate. hp0009lx5z High, narrow palate|Gothic palate|High narrow palate|Narrow, highly arched roof of mouth|High vaulted palate|Narrow, high-arched palate|Narrow, highly arched palate|Narrow and high arched palate|Narrow, high-arched roof of mouth UMLS:C1837404 human_phenotype owl:Class HP:0000189 biolink:NamedThing Narrow palate Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). hp0009lx5z Decreased transverse dimension of palate|Narrow roof of mouth|Decreased palatal width|Narrow palate Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. UMLS:C1398312 human_phenotype owl:Class HP:0011128 biolink:NamedThing Acute esophageal necrosis A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction. hp0009lx5z peter 2011-06-18T08:48:53Z UMLS:C4023524 human_phenotype owl:Class HP:0009574 biolink:NamedThing Symphalangism of middle phalanx of 2nd finger Fusion of the middle phalanx of the 2nd finger with another bone. hp0009lx5z Fused middle bone of index finger doelkens 2009-01-28T05:10:24Z UMLS:C4024284 human_phenotype owl:Class HP:0000175 biolink:NamedThing Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). hp0009lx5z Cleft of hard and soft palate|Cleft secondary palate|Cleft roof of mouth|Cleft of palate|Cleft hard and soft palate|Cleft palate|Palatoschisis|Uranostaphyloschisis Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. HP:0410004 Fyler:4876|MSH:D002972|UMLS:C2981150|SNOMEDCT_US:63567004|SNOMEDCT_US:87979003|UMLS:C0008925 human_phenotype owl:Class HP:0009016 biolink:NamedThing Upper limb muscle hypoplasia Underdevelopment of muscles of the arm. hp0009lx5z Underdevelopment of upper limb muscles UMLS:C1846478 human_phenotype owl:Class HP:0001467 biolink:NamedThing Aplasia/Hypoplasia involving the musculature of the upper limbs Absence or underdevelopment of the musculature of the upper limbs. hp0009lx5z Absent/underdeveloped upper limb muscles|Absent/small upper limb muscles peter 2008-04-07T10:51:00Z UMLS:C4025770 human_phenotype owl:Class HP:0100596 biolink:NamedThing Absent nares The nostrils (the paired channels of the nose) are not present. hp0009lx5z Missing nostrils|Abouphalia|Aplasia of the nares|Aplasia/Hypoplasia of the nares doelkens 2010-12-27T05:07:16Z HP:0100597 UMLS:C4020707|UMLS:C4020963 human_phenotype owl:Class HP:5000017 biolink:NamedThing Anti-Iglon5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5). hp0009lx5z Anti-immunoglobulin-like cell adhesion molecule 5 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0004743 biolink:NamedThing Chronic tubulointerstitial nephritis Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. hp0009lx5z SNOMEDCT_US:60926001|UMLS:C0238304 human_phenotype owl:Class HP:0001970 biolink:NamedThing Tubulointerstitial nephritis A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. hp0009lx5z Nephritis, Tubulointerstitial|Interstitial nephritis SNOMEDCT_US:428255004|SNOMEDCT_US:28689008|UMLS:C0041349|MSH:D009395 human_phenotype owl:Class HP:0003491 biolink:NamedThing Elevated urine pyrophosphate An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. hp0009lx5z UMLS:C4025607 human_phenotype owl:Class HP:0012722 biolink:NamedThing Heart block Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. hp0009lx5z peter 2014-03-23T01:32:14Z MSH:D006327|UMLS:C0018794|SNOMEDCT_US:233916004 human_phenotype owl:Class HP:0007034 biolink:NamedThing Generalized hyperreflexia hp0009lx5z Generalised hyperreflexia UMLS:C4024949 human_phenotype owl:Class HP:0007665 biolink:NamedThing Curly eyelashes Abnormally curly or curved eyelashes. hp0009lx5z Curly eyelashes UMLS:C2673670 human_phenotype owl:Class HP:0000013 biolink:NamedThing Hypoplasia of the uterus Underdevelopment of the uterus. hp0009lx5z Small uterus|Underdeveloped uterus|Rudimentary uterus|Hypoplastic uterus HP:0001154|HP:0008637 UMLS:C0266399|SNOMEDCT_US:35850006 human_phenotype owl:Class HP:0008684 biolink:NamedThing Aplasia/hypoplasia of the uterus Absence or developmental hypoplasia of the uterus. hp0009lx5z Absent/underdeveloped uterus|Absent/small uterus UMLS:C4024640 human_phenotype owl:Class HP:0003893 biolink:NamedThing Advanced ossification of the humeral epiphysis Ossification of the humeral epiphysis at an earlier age than normal. hp0009lx5z Accelerated maturation of end part of long bone in upper arm|Advanced maturation of the humeral epiphyses UMLS:C4020836|UMLS:C4025526 human_phenotype owl:Class HP:0040332 biolink:NamedThing Multifocal hypointensity of cerebral white matter on MRI hp0009lx5z ORCID:0000-0002-5316-1399 owl:Class HP:0007103 biolink:NamedThing Hypointensity of cerebral white matter on MRI A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. hp0009lx5z White matter hypointensities on MRI ORCID:0000-0002-5316-1399 HP:0006804 UMLS:C4020908 human_phenotype owl:Class HP:0007263 biolink:NamedThing Spinocerebellar atrophy Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. hp0009lx5z MSH:D020754|SNOMEDCT_US:129609000|UMLS:C0087012 owl:Class HP:0001272 biolink:NamedThing Cerebellar atrophy Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. hp0009lx5z Degeneration of cerebellum|Atrophic cerebellum|Infratentorial atrophy Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. HP:0002364|HP:0006839|HP:0007072|HP:0007203 UMLS:C0740279|SNOMEDCT_US:95646004|UMLS:C0262404|UMLS:C4020873 owl:Class HP:0025162 biolink:NamedThing Severe temper tantrums Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes. hp0009lx5z 2016-12-04 13:05:46+00:00 HPO:probinson owl:Class HP:0025160 biolink:NamedThing Abnormal temper tantrums A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual. hp0009lx5z 2016-12-04 12:59:10+00:00 HPO:probinson owl:Class HP:0012198 biolink:NamedThing Juvenile colonic polyposis The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. hp0009lx5z A juvenile polyp is a hamartomatous growth that projects from the lining of the intestine. It does not arise from the colonocytes themselves but from the tissues underneath the lining cells. peter 2013-03-11T07:09:42Z UMLS:C4023006 human_phenotype owl:Class HP:0030255 biolink:NamedThing Large intestinal polyposis The presence of multiple polyps in the large intestine. hp0009lx5z UMLS:C4022556 owl:Class HP:0009958 biolink:NamedThing Polydactyly affecting the 3rd finger hp0009lx5z Extra middle finger doelkens 2009-05-26T09:54:29Z UMLS:C4024144 human_phenotype owl:Class HP:0031648 biolink:NamedThing Penetrating aortic ulcer A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture. hp0009lx5z 2017-12-17 14:55:54+00:00 Pentrating aortic ulcers are typically caused by atherosclerotic lesions. peter owl:Class HP:0002404 biolink:NamedThing Thickened superior cerebellar peduncle Increased width of the superior cerebellar peduncle. hp0009lx5z Thick cerebellar peduncles UMLS:C4021756 human_phenotype owl:Class HP:0100034 biolink:NamedThing Motor tics Movement-based tics affecting discrete muscle groups. hp0009lx5z doelkens 2010-06-10T12:13:57Z UMLS:C0751900|MSH:D020323 human_phenotype owl:Class HP:0100033 biolink:NamedThing Tics Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement. hp0009lx5z Tic disorder|Tics Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics. doelkens 2010-06-10T12:10:29Z UMLS:C2169806 human_phenotype owl:Class HP:0032880 biolink:NamedThing Focal impaired awareness sensory seizure with auditory features A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0011862 biolink:NamedThing Abnormal bone collagen fibril morphology Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. hp0009lx5z peter 2012-05-27T01:32:04Z UMLS:C4023158 human_phenotype owl:Class HP:0033359 biolink:NamedThing Hyperosthenuria An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine. hp0009lx5z 2020-12-01 12:45:30+00:00 peter owl:Class HP:0033358 biolink:NamedThing Abnormal urine osmolality A deviation from the normal range of concentration of particles in urine. hp0009lx5z 2020-12-01 12:44:51+00:00 peter owl:Class HP:0007501 biolink:NamedThing Streaks of hyperkeratosis along each finger onto the palm hp0009lx5z UMLS:C4024861 human_phenotype owl:Class HP:0030250 biolink:NamedThing Pulmonary granulomatosis The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung. hp0009lx5z UMLS:C0856628 owl:Class HP:0033966 biolink:NamedThing Interlobular vein intima/media amyloidosis Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy hp0009lx5z Amyloidosis within interlobular vein intima/media 2021-06-24 12:49:34+00:00 peter owl:Class HP:0033947 biolink:NamedThing Renal arteriole intima/media crystal accumulation Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. hp0009lx5z Accumulated crystals within renal arteriolar intima/media 2021-06-24 01:59:04+00:00 peter owl:Class HP:0008843 biolink:NamedThing Hip osteoarthritis hp0009lx5z Osteoarthritis of hip HP:0008809 UMLS:C0029410|SNOMEDCT_US:239872002|MSH:D015207 human_phenotype owl:Class HP:0002758 biolink:NamedThing Osteoarthritis Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. hp0009lx5z Degenerative joint disease HP:0002824|HP:0001379|HP:0005762 SNOMEDCT_US:225655006|SNOMEDCT_US:396275006|UMLS:C0029408|MSH:D010003 human_phenotype owl:Class HP:0005540 biolink:NamedThing Red blood cell keratocytosis A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns. hp0009lx5z Distorted red blood cells resembling keratocytes|RBC keratocytosis Kerato- is derived from the Greek word for horn. UMLS:C4021635 human_phenotype owl:Class HP:0030905 biolink:NamedThing Snout reflex A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout. hp0009lx5z owl:Class HP:0011496 biolink:NamedThing Corneal neovascularization Ingrowth of new blood vessels into the cornea. hp0009lx5z Corneal pannus|New blood vessel formation in cornea|Limbal neovascularization|Corneal vascularization|Corneal neovascularisation New blood vessels, which sprout from the capillaries and venules of the pericorneal plexus, may block light, compromise visual acuity, and lead to inflammation, corneal scarring, and edema. Corneal neovascularization may be a consequence of corneal hypoxia. Neovascular patterns can be separated into three clinical groups: deep neovascularization overlying Descemet's membrane (seen in herpetic and luetic interstitial keratitis), stromal neovascularization (as a result of stromal keratitis), and vascular pannus (from ocular surface disorders). Corneal pannus is subepithelial fibrovascular tissue ingrowth from the limbus onto the cornea that can be observed with corneal neovascularization. peter 2012-04-03T07:15:37Z SNOMEDCT_US:19161004|MSH:D016510|UMLS:C0085109 owl:Class HP:0033960 biolink:NamedThing Cortical radial artery intimal mucoid edema Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. hp0009lx5z Intimal mucoid edema within interlobular arterial intima/media 2021-06-24 12:35:18+00:00 peter owl:Class HP:0005900 biolink:NamedThing Fifth metacarpal with ulnar notch Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). hp0009lx5z Fifth metacarpal notched on ulnar side UMLS:C3276324 human_phenotype owl:Class HP:0010013 biolink:NamedThing Abnormality of the 5th metacarpal Any abnormality of the fifth metacarpal bone. hp0009lx5z Abnormality of the 5th long bone of hand doelkens 2009-05-27T03:35:21Z UMLS:C4024110 human_phenotype owl:Class HP:0100622 biolink:NamedThing Maternal seizure A seizure during pregnancy. hp0009lx5z Maternal seizures doelkens 2010-12-28T12:03:21Z UMLS:C4022010 owl:Class HP:0100283 biolink:NamedThing EMG: continuous motor unit activity at rest Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles. hp0009lx5z The motor unit contains an anterior horn cell, its axon, and all of the muscle fibers that it innervates via the neuromuscular junction. Note that a healthy relaxed muscle does not show significant EMG activity at rest. doelkens 2010-08-10T12:59:19Z UMLS:C4022170 human_phenotype owl:Class HP:0004823 biolink:NamedThing Anisopoikilocytosis A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. hp0009lx5z UMLS:C2675920 human_phenotype owl:Class HP:0032269 biolink:NamedThing Lemon sign Bifrontal flattening of the fetal head as observed by prenatal ultrasonographic examination, an appearance that is said to resemble a lemon. hp0009lx5z 2019-01-27 20:27:13+00:00 This sign represents the loss of the normal convex contour of the frontal bones, with flattening or inward scalloping, seen on a transverse fetal sonogram obtained at the biparietal diameter level. It has a strong association with spina bifida and is very useful for detecting this condition before 24 weeks of gestation in high-risk patients. It has high sensitivity and specificity. The lemon sign may disappear as gestational age advances and hence it is less reliable after 24 weeks. The sign is not specific for spina bifida and has also been seen in encephalocele, Dandy-Walker malformation with encephalocele, thanatophoric dysplasia, cystic hygroma, diaphragmatic hernia, corpus callosal agenesis, hydronephrosis, and umbilical vein varix. peter owl:Class HP:0033756 biolink:NamedThing Decreased left ventricular end-diastolic volume Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole). hp0009lx5z 2021-04-22 19:23:12+00:00 peter owl:Class HP:0033754 biolink:NamedThing Abnormal left ventricular end-diastolic volume Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole). hp0009lx5z 2021-04-22 19:06:04+00:00 peter owl:Class HP:0033517 biolink:NamedThing Heroin addiction Addiction to heroin. hp0009lx5z Heroin dependence 2021-01-13 12:32:37+00:00 peter owl:Class HP:0030938 biolink:NamedThing Enteric intraneuronal nuclear inclusion bodies Aggregates of stainable substances (proteins) in the nuclei of enteric neurons. hp0009lx5z 2016-12-05 13:25:36+00:00 robinp owl:Class HP:0030367 biolink:NamedThing Finger hyperphalangy Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. hp0009lx5z UMLS:C4072906 owl:Class HP:0100174 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 4th toe hp0009lx5z Irregular end part of the outermost bone of the 4th toe doelkens 2010-06-24T04:53:36Z UMLS:C4022247 human_phenotype owl:Class HP:0009226 biolink:NamedThing Short proximal phalanx of the 5th finger Hypoplastic/small proximal phalanx of the fifth finger. hp0009lx5z Short innermost little finger bone|Hypoplastic/small proximal phalanx of the 5th finger|Short proximal phalanx of the fifth finger|Short innermost pinkie finger bone|Short innermost pinky finger bone doelkens 2009-01-05T06:01:34Z UMLS:C4021509 human_phenotype owl:Class HP:0009237 biolink:NamedThing Short 5th finger Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. hp0009lx5z Fifth finger brachydactyly|Short little finger|Short 5th finger|Short pinkie finger|Hypoplastic/small 5th finger|Short phalanges of the little finger|Short fifth finger|Short fifth fingers|Hypoplastic phalanges of the little finger|Hypoplastic/small little finger|Short pinky finger doelkens 2009-01-05T06:54:07Z HP:0004215|HP:0001205|HP:0004217|HP:0004211|HP:0004210|HP:0004208|HP:0005804|HP:0005888 UMLS:C1842878 human_phenotype owl:Class HP:0010961 biolink:NamedThing Intralobar sequestration A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung. hp0009lx5z Intralobar sequestration (ILS) may be diagnosed on antenatal ultrasound screening. ILS can be asymptomatic in later life or can lead to signs and symptoms related to inadequate tracheobronchial drainage caused by the lesion of adjacent atelectatic lung. peter 2011-01-18T12:34:14Z UMLS:C4023627 human_phenotype owl:Class HP:0010960 biolink:NamedThing Bronchopulmonary sequestration The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree. hp0009lx5z Typically, the lung tissue in BPS receives all or most of its blood supply from an anomalous systemic artery, with the origin of this artery being variable. peter 2011-01-18T12:28:51Z MSH:D001998|SNOMEDCT_US:18620009|UMLS:C0006288 human_phenotype owl:Class HP:0430018 biolink:NamedThing Abnormality of nasal musculature An abnormality of the muscles of the structure of the nose. hp0009lx5z Abnormality of nasal musculature|Abnormality of muscle of nose|Abnormality of musculature of the nose UMLS:C4073200 owl:Class HP:0031930 biolink:NamedThing Neurocytic rosette A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular. hp0009lx5z Pineocytomatous rosette 2018-07-04 13:32:31+00:00 Pineocytomas and central neurocytomas represent well-differentiated neuronal neoplasms with small rounded nuclei, analogous to those normally encountered in the internal granular layer of the cerebellum or the dentate fascia of the hippocampus. Although they likely originate from slightly different precursors, the histologic features of these two tumors are virtually identical, including their tendency to form neuropil-rich rosettes, referred to as pineocytomatous rosettes in pineocytomas and neurocytic rosettes in central neurocytoma peter owl:Class HP:0008225 biolink:NamedThing Thyroid follicular hyperplasia hp0009lx5z UMLS:C1969546 human_phenotype owl:Class HP:0008249 biolink:NamedThing Thyroid hyperplasia Hyperplasia of the thyroid gland. hp0009lx5z Large thyroid UMLS:C1112776 human_phenotype owl:Class HP:0009395 biolink:NamedThing Cone-shaped epiphyses of the 4th finger A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. hp0009lx5z Cone-shaped end part of the ring finger bones doelkens 2009-01-13T01:59:12Z UMLS:C4024395 human_phenotype owl:Class HP:0031144 biolink:NamedThing Coarsened hepatic echotexture The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography. hp0009lx5z 2017-06-11 19:31:31+00:00 peter owl:Class HP:0031140 biolink:NamedThing Abnormal liver sonography An abnormal appearance of the liver or any of its components on sonography (ultrasound). hp0009lx5z 2017-06-11 19:18:39+00:00 peter owl:Class HP:0011569 biolink:NamedThing Cleft anterior mitral valve leaflet Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect. hp0009lx5z peter 2012-04-08T08:40:46Z UMLS:C4023295 human_phenotype owl:Class HP:0031480 biolink:NamedThing Abnormal mitral valve leaflet morphology Any structural anomaly of the leaflets (also known as cusps) of the mitral valve. hp0009lx5z 2017-09-17 22:30:47+00:00 peter owl:Class HP:0030975 biolink:NamedThing Pontine tegmental cap An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle. hp0009lx5z Vaulted pontine tegmentum 2017-04-28 14:09:05+00:00 robinp owl:Class HP:0100058 biolink:NamedThing Enlarged epiphyses of the 3rd toe hp0009lx5z Enlarged end part of the 3rd toe bone doelkens 2010-06-24T09:58:55Z UMLS:C4022363 human_phenotype owl:Class HP:0032349 biolink:NamedThing Serinuria A increased concentration of serine in the urine. hp0009lx5z 2019-02-23 16:34:18+00:00 peter owl:Class HP:0033099 biolink:NamedThing Increased serine family amino acid in urine An increased level of a serine family amino acid in the urine. hp0009lx5z peter owl:Class HP:0003945 biolink:NamedThing Irregular articular surfaces of the elbow joints hp0009lx5z UMLS:C4025489 human_phenotype owl:Class HP:0100264 biolink:NamedThing Proximal symphalangism hp0009lx5z Cushing's symphalangism doelkens 2010-07-20T03:00:19Z MSH:C536223|UMLS:C1861385 human_phenotype owl:Class HP:0010679 biolink:NamedThing Elevated tissue non-specific alkaline phosphatase An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. hp0009lx5z Elevated tissue non-specific ALP|Elevated alkaline phosphatase, liver/bone/kidney Tissue non-specific alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 249, Uniprot P05186 (PPBT_HUMAN). The gene is also known as alkaline phosphatase, liver/bone/kidney (ALPL). doelkens 2010-03-05T11:08:35Z UMLS:C4021240 owl:Class HP:0031922 biolink:NamedThing Renal artery duplication The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body. hp0009lx5z Accessory renal artery|Double renal artery 2018-07-04 12:09:29+00:00 Double renal arteries with aortic origin is a benign condition representing the persistence of the embryonic vessels, the lateral branches of the mesonephros, within the renal ascent. The embryonic urogenital ridge from which the kidneys develop is supplied by several paired arteries: the rete arteriosum urogenitale. The later developing metanephric kidneys retain only a single pair of mesonephric arteries, however a variable number may persist. peter owl:Class HP:0008776 biolink:NamedThing Abnormal renal artery morphology Any structural abnormality of the renal artery. hp0009lx5z Abnormality of the renal artery|Abnormal kidney artery peter 2008-04-04T06:13:00Z UMLS:C4024624 human_phenotype owl:Class HP:0005924 biolink:NamedThing Abnormality of the epiphyses of the hand Any abnormality of the epiphyses of the phalanges or metacarpal bones. hp0009lx5z Abnormality of the epiphyses of the phalanges of the hand|Abnormality of the epiphyses of the fingers|Abnormality of the end part of the hand bones|Abnormality of the end part of the hand bone peter 2008-03-27T02:28:00Z UMLS:C4025107 human_phenotype owl:Class HP:0100894 biolink:NamedThing Broad xiphoid process Increased side-to-side width of the xiphoid process of the sternum. hp0009lx5z Broad xiphisternum doelkens 2011-12-01T05:10:27Z UMLS:C4020901 human_phenotype owl:Class HP:0100892 biolink:NamedThing Abnormality of the xiphoid process An abnormality of the xiphoid process of the sternum. hp0009lx5z doelkens 2011-12-01T05:09:03Z UMLS:C4021943 human_phenotype owl:Class HP:0007815 biolink:NamedThing Abnormal distribution of retinal arterioles and venules hp0009lx5z UMLS:C3277463 human_phenotype owl:Class HP:0012635 biolink:NamedThing Iris hypoperfusion Reduction in the amount of blood flow to the iris. hp0009lx5z This feature can be diagnosed by iris angiography. peter 2014-01-17T11:41:07Z UMLS:C4022812 human_phenotype owl:Class HP:0002197 biolink:NamedThing Generalized-onset seizure A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. hp0009lx5z Primary generalized seizure|Generalized-onset seizures|Generalized onset seizure|Primary generalised seizure|Generalised-onset seizure|Generalized seizures|Generalised seizures|Generalised onset seizure in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalised onset does not rule out a focal-onset obscured by limitations of our current clinical methods. HP:0002409|HP:0007114|HP:0007339 MSH:D012640|SNOMEDCT_US:246545002|UMLS:C1833488|UMLS:C0234533 human_phenotype owl:Class HP:0030552 biolink:NamedThing Visual acuity light perception without projection hp0009lx5z UMLS:C4073026 owl:Class HP:0030532 biolink:NamedThing Visual acuity test abnormality hp0009lx5z UMLS:C4073006 owl:Class HP:0002842 biolink:NamedThing Recurrent Burkholderia cepacia infections Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent. hp0009lx5z UMLS:C4025673 human_phenotype owl:Class HP:0025593 biolink:NamedThing Superior oblique muscle restriction Mechanical limitation of the range of movement of the superior oblique muscle. hp0009lx5z 2018-01-13 20:38:29+00:00 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. HPO:probinson owl:Class HP:0025592 biolink:NamedThing Superior oblique muscle weakness Decreased strength of the superior oblique muscle. hp0009lx5z Superior oblique palsy 2018-01-13 20:17:49+00:00 HPO:probinson owl:Class HP:0009260 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 4th finger A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. hp0009lx5z Triangular end part of the outermost bone of ring finger|Delta-shaped epiphysis of the distal phalanx of the 4th finger doelkens 2009-01-07T12:07:34Z UMLS:C4021507 human_phenotype owl:Class HP:5000043 biolink:NamedThing Anti-D2 R antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor. hp0009lx5z Anti-dopamine-2 receptors (D2R) antibody ORCID:0000-0002-3387-1836 owl:Class HP:0012795 biolink:NamedThing Abnormality of the optic disc A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. hp0009lx5z The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. peter 2014-05-24T04:37:10Z UMLS:C3808249 human_phenotype owl:Class HP:0012886 biolink:NamedThing Hemorrhagic ovarian cyst An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst. hp0009lx5z The clinical signs and symptoms of hemorrhagic ovarian cyst (HOC) are variable and include such patients as asymptomatic cases or patients showing symptoms of acute abdomen. HOC is detected as pelvic masses by ultrasonography, but it is often misdiagnosed with other organic masses because of its variable clinical and sonographic findings, and in some cases may lead to laparotomy. hecht 2014-06-11T09:26:15Z SNOMEDCT_US:119420007|UMLS:C0473311 human_phenotype owl:Class HP:0500190 biolink:NamedThing Decreased CSF leucine concentration Abnormally decreased levels of leucine in the cerebrospinal fluid. hp0009lx5z Low leucine levels in cerebrospinal fluid 2019-02-25 15:52:49+00:00 owl:Class HP:0011260 biolink:NamedThing Darwin notch of helix Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix. hp0009lx5z Helix, Darwin notch peter 2011-12-18T06:01:45Z UMLS:C4021180 human_phenotype owl:Class HP:0009902 biolink:NamedThing Cleft helix A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. hp0009lx5z Notching of the ear helix|Notched helix This may take the form of a sharp cleft or a less well-demarcated area. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix. peter 2009-04-30T10:52:45Z UMLS:C4021376 human_phenotype owl:Class HP:0005927 biolink:NamedThing Aplasia/hypoplasia involving bones of the hand Absence (due to failure to form) or underdevelopment of the bones of the hand. hp0009lx5z Hypoplasia/absence of hand bones|Absent/underdeveloped hand bones|Absent/small hand bones peter 2008-03-27T02:29:00Z UMLS:C4021612 human_phenotype owl:Class HP:0002840 biolink:NamedThing Lymphadenitis Inflammation of a lymph node. hp0009lx5z Inflammation of the lymph nodes UMLS:C0024205|MSH:D008199|SNOMEDCT_US:19471005 human_phenotype owl:Class HP:0031015 biolink:NamedThing Intrahepatic portal vein sclerosis Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices. hp0009lx5z Non cirrhotic portal fibrosis|Idiopathic non-cirrhotic portal hypertension|Obliterative portal venopathy|Incomplete septal cirrhosis 2017-05-20 11:15:20+00:00 The diagnosis is based on histological examination of the liver. Clinical manifestations include encephalopathy, ascites and variceal bleeding. peter owl:Class HP:0025073 biolink:NamedThing Exercise-induced U wave inversion U wave inversion that is induced by exercise stress testing. hp0009lx5z 2016-09-26 10:44:21+00:00 HPO:probinson owl:Class HP:0030691 biolink:NamedThing Divergence nystagmus A condition in which both eyes beat outward simultaneously. hp0009lx5z This is a rare condition that may be related to posterior foass abnormalities and can occur with spinocerebellar degeneration. UMLS:C4073130 owl:Class HP:0012680 biolink:NamedThing Abnormality of the pineal gland An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin. hp0009lx5z peter 2014-03-22T12:46:36Z UMLS:C4022783 human_phenotype owl:Class HP:0410221 biolink:NamedThing Increased anti-animal protein IgE antibody level Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine. hp0009lx5z Increased level of anti-animal protein IgE antibody 2018-10-03 16:51:13+00:00 For animal dander annotations, there is a more specific subclass of this term. owl:Class HP:0009187 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 5th finger An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the outermost little finger bone|Bracket shaped end part of the outermost pinkie finger bone|Bracket shaped end part of the outermost pinky finger bone doelkens 2008-12-30T12:07:32Z UMLS:C4024549 human_phenotype owl:Class HP:0000061 biolink:NamedThing Ambiguous genitalia, female Ambiguous genitalia in an individual with XX genetic gender. hp0009lx5z Atypical appearance of female genitals|Ambiguous genitalia due to virilization HP:0008690 UMLS:C1859980|UMLS:C4025891 human_phenotype owl:Class HP:0003267 biolink:NamedThing Reduced orotidine 5-prime phosphate decarboxylase level An abnormal decrease in orotidine 5'-phosphate decarboxylase level. hp0009lx5z Orotidine-5-prime-phosphate decarboxylase defect The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis. UMLS:C4025636|UMLS:C4020845 human_phenotype owl:Class HP:0010080 biolink:NamedThing Osteolytic defects of the distal phalanx of the hallux hp0009lx5z doelkens 2009-05-29T12:16:28Z UMLS:C4024065 human_phenotype owl:Class HP:0006291 biolink:NamedThing Marked delay in eruption of permanent teeth hp0009lx5z Very late eruption of permanent teeth|Severe delay of eruption of adult teeth|Severe delay of eruption of permanent teeth|Very late eruption of adult teeth UMLS:C1863009 human_phenotype owl:Class HP:0000696 biolink:NamedThing Delayed eruption of permanent teeth Delayed tooth eruption affecting the secondary dentition. hp0009lx5z Delayed permanent dentition|Delayed eruption of permanent teeth|Delayed eruption of adult teeth|Delayed eruption of secondary teeth|Delayed eruption of secondary dentition UMLS:C1849540 owl:Class HP:0007530 biolink:NamedThing Punctate palmoplantar hyperkeratosis hp0009lx5z UMLS:C4024851 human_phenotype owl:Class HP:0009025 biolink:NamedThing Increased connective tissue The presence of an abnormally increased amount of connective tissue. hp0009lx5z UMLS:C1866021 human_phenotype owl:Class HP:0002655 biolink:NamedThing Spondyloepiphyseal dysplasia A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). hp0009lx5z Spondyloepiphyseal dysplasia tarda HP:0002776|HP:0005893 MSH:D010009|UMLS:C0038015 human_phenotype owl:Class HP:0002267 biolink:NamedThing Exaggerated startle response An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. hp0009lx5z Hyperekplexia|Increased startle response|Exaggerated acoustic startle response UMLS:C1836014|SNOMEDCT_US:19557000|UMLS:C1848918|MSH:D000071017|UMLS:C1740801|UMLS:C0234166 human_phenotype owl:Class HP:0100578 biolink:NamedThing Lipoatrophy Localized loss of fat tissue. hp0009lx5z Loss of fat tissue in localized area|Loss of fat tissue in localised area|Atrophy of fat This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs. doelkens 2010-12-27T12:55:33Z SNOMEDCT_US:248315005|MEDDRA:10024604|UMLS:C1280433 human_phenotype owl:Class HP:0009377 biolink:NamedThing Patchy sclerosis of 5th finger phalanx Uneven increase in bone density of one or more of the phalanges of the 5th finger. hp0009lx5z Uneven increase in bone density in pinky finger bone|Uneven increase in bone density in little finger bone|Uneven increase in bone density in pinkie finger bone|Patchy sclerosis of the phalanges of the 5th finger doelkens 2009-01-13T12:00:02Z UMLS:C4021484 human_phenotype owl:Class HP:0031677 biolink:NamedThing Polymorphic ventricular tachycardia A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat). hp0009lx5z 2017-12-17 17:08:41+00:00 peter owl:Class HP:0004756 biolink:NamedThing Ventricular tachycardia A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). hp0009lx5z Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease. UMLS:C0042514|SNOMEDCT_US:25569003|Fyler:7160|MSH:D017180 human_phenotype owl:Class HP:0004272 biolink:NamedThing Cortical thinning of hand bones hp0009lx5z UMLS:C4025378 human_phenotype owl:Class HP:0002753 biolink:NamedThing Thin bony cortex Abnormal thinning of the cortical region of bones. hp0009lx5z Thin cortices HP:0003104 UMLS:C1833325 human_phenotype owl:Class HP:0009173 biolink:NamedThing Curved middle phalanx of the 5th finger Curved appearance of the middle phalanx of the 5th finger. hp0009lx5z Curved middle bone of pinky finger|Curved middle bone of pinkie finger|Curved middle bone of little finger peter 2008-12-29T03:05:04Z UMLS:C4024557 human_phenotype owl:Class HP:0004214 biolink:NamedThing Curved phalanges of the 5th finger Curved phalanges of the 5th (little) finger. hp0009lx5z Curved pinky finger bone|Curved little finger bone|Curved pinkie finger bone UMLS:C4025407 human_phenotype owl:Class HP:0009149 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 5th finger A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. hp0009lx5z Triangular end part of the outermost bone of pinkie finger|Triangular end part of the outermost bone of pinky finger|Delta-shaped epiphysis of the distal phalanx of the 5th finger|Triangular end part of the outermost bone of little finger peter 2008-12-22T01:40:48Z HP:0009137 UMLS:C4021519 human_phenotype owl:Class HP:0031056 biolink:NamedThing Fusiform cerebral aneurysm A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery. hp0009lx5z Intracranial fusiform aneurysm 2017-05-27 17:29:26+00:00 peter owl:Class HP:0100263 biolink:NamedThing Distal symphalangism hp0009lx5z Symphalangism, distal doelkens 2010-07-20T03:00:19Z UMLS:C1861401|MSH:C566099 human_phenotype owl:Class HP:0025152 biolink:NamedThing Poor visual behavior for age Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones. hp0009lx5z Abnormal visual behaviour for age|Poor visual behaviour for age|Abnormal visual behavior for age 2016-12-03 21:34:47+00:00 A failure to meet age-related milestones in areas such as (i) focusing ability, (ii) eye coordinationg and tracking of objects in the visual field, (iii) depth perception, (iv) color perception, and (v) object and face recognition. These milestones are generally met in the first three months of life, and failure to meet them may indicate abnormal visual development or function. HPO:probinson owl:Class HP:0011756 biolink:NamedThing Posterior pituitary agenesis Absence of the neurohypophysis owing to a developmental defect. hp0009lx5z Neurohypophysis agenesis peter 2012-04-22T01:55:35Z UMLS:C4023203 human_phenotype owl:Class HP:0010841 biolink:NamedThing Multifocal epileptiform discharges An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). hp0009lx5z Multifocal EEG abnormality peter 2010-07-10T08:01:28Z UMLS:C4021219 human_phenotype owl:Class HP:0031377 biolink:NamedThing Abnormal cell proliferation Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population. hp0009lx5z 2017-09-02 15:54:47+00:00 peter owl:Class HP:0025129 biolink:NamedThing Abnormal small intestinal mucosa morphology A structural anomaly of the mucous lining of the small intestine. hp0009lx5z 2016-11-15 11:57:47+00:00 HPO:probinson owl:Class HP:0011771 biolink:NamedThing Autoimmune hypoparathyroidism A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity. hp0009lx5z peter 2012-04-22T04:54:37Z UMLS:C0271865|SNOMEDCT_US:75316000 human_phenotype owl:Class HP:0000829 biolink:NamedThing Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. hp0009lx5z Decreased parathyroid hormone secretion|Low parathyroid hormone HP:0008292|HP:0000856 SNOMEDCT_US:36976004|MSH:D007011|UMLS:C0020626 human_phenotype owl:Class HP:0410349 biolink:NamedThing Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level. hp0009lx5z owl:Class HP:0011836 biolink:NamedThing Delayed talus ossification Delayed maturation and calcification of the talus. hp0009lx5z peter 2012-05-05T08:39:24Z UMLS:C4023168 owl:Class HP:0410366 biolink:NamedThing Increased globoside Gb4 level An abnormal increase in the concentration of globoside Gb4. hp0009lx5z Increased globoside Gb4 concentration owl:Class HP:0008839 biolink:NamedThing Hypoplastic pelvis Underdevelopment of the bony pelvis. hp0009lx5z Small pelvis|Hypoplastic pelvic bones HP:0008816|HP:0003373 UMLS:C3536734 human_phenotype owl:Class HP:0030215 biolink:NamedThing Inappropriate crying Uncontrolled episodes of crying, without apparent motivating stimuli. hp0009lx5z Inappropriate crying UMLS:C0860609 owl:Class HP:0000719 biolink:NamedThing Inappropriate behavior hp0009lx5z Inappropriate behavior|Inappropriate behaviour UMLS:C0233522|SNOMEDCT_US:112082005 owl:Class HP:0002548 biolink:NamedThing Parkinsonism with favorable response to dopaminergic medication Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. hp0009lx5z Favourable response to levodopa|Favorable response to levodopa|Parkinsonism with favourable response to dopaminergic medication UMLS:C1846868 human_phenotype owl:Class HP:0001300 biolink:NamedThing Parkinsonism Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. hp0009lx5z Parkinsonian disease SNOMEDCT_US:32798002|UMLS:C0242422|MSH:D020734 owl:Class HP:0030309 biolink:NamedThing Flared distal fibular metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula. hp0009lx5z Flared outermost wide portion of of calf bone UMLS:C4022518 owl:Class HP:0030307 biolink:NamedThing Flared lower limb metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. hp0009lx5z Flared metaphysis of lower limb bone UMLS:C4022520 owl:Class HP:0010176 biolink:NamedThing Curved toe phalanx A deviation from the normal straight form of one or more toe phalanges. hp0009lx5z Curved phalanges of the toes|Curved toe bone doelkens 2009-05-29T01:39:26Z UMLS:C4021330 human_phenotype owl:Class HP:0010771 biolink:NamedThing Pilonidal abscess A hair-containing cyst or sinus usually in the coccygeal region. hp0009lx5z Sacrococcygeal fistula sdoelken 2010-04-29T09:55:15Z UMLS:C3537055|SNOMEDCT_US:85224001 human_phenotype owl:Class HP:0030441 biolink:NamedThing Anal margin Paget's disease An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells. hp0009lx5z Macroscopically, anal margin Paget's disease presents as an erythematous and eczematous rash similar to benign skin conditions or other perianal diseases such as Bowen's disease, hydradenitis suppurativa, pruritus ani, or Crohn's disease. UMLS:C1332270 owl:Class HP:0009268 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 4th finger A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-01-07T12:12:59Z UMLS:C4024481 human_phenotype owl:Class HP:0009400 biolink:NamedThing Pseudoepiphyses of the 4th finger A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-01-13T01:59:12Z UMLS:C4024390 human_phenotype owl:Class HP:0032334 biolink:NamedThing Oligoclonal elevation of circulating IgA An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp0009lx5z 2019-02-18 14:10:26+00:00 peter owl:Class HP:0003261 biolink:NamedThing Increased circulating IgA level An abnormally increased level of immunoglobulin A in blood. hp0009lx5z Increased levels of IgA|Increased serum IgA|Elevated IgA|IgA hypergammaglobulinemia|Elevated serum IgA HP:0005351|HP:0005417|HP:0004436 UMLS:C0239984 human_phenotype owl:Class HP:0100422 biolink:NamedThing Partial duplication of the proximal phalanx of the 3rd toe Partial duplication of proximal phalanx of third toe. hp0009lx5z Partial duplication of the proximal phalanx of the third toe|Partial duplication of the innermost bone of 3rd toe UMLS:C4020977 human_phenotype owl:Class HP:0004822 biolink:NamedThing Atypical elliptocytosis hp0009lx5z MSH:C565598|UMLS:C1857010 human_phenotype owl:Class HP:0004445 biolink:NamedThing Elliptocytosis The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. hp0009lx5z Ovalocytes|Ovalocytosis|Elliptocyte|Hereditary elliptocytosis Elliptocytes (ovalocytes) are abnormal erythrocytes ranging from slightly oval to elongated cigar-shaped forms. peter 2008-03-18T10:05:00Z HP:0004837 UMLS:C0013902|MSH:D004612|SNOMEDCT_US:250242004|SNOMEDCT_US:191169008|UMLS:C0427480|SNOMEDCT_US:178935009 human_phenotype owl:Class HP:0003547 biolink:NamedThing Shoulder girdle muscle weakness The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. hp0009lx5z Shoulder weakness|Weak shoulder muscles|Muscle weakness, shoulder-girdle|Shoulder girdle weakness HP:0003695|HP:0009009 SNOMEDCT_US:249940002|UMLS:C0748691|UMLS:C0427063 owl:Class HP:0001435 biolink:NamedThing Abnormality of the shoulder girdle musculature hp0009lx5z Abnormality of shoulder musculature peter 2008-04-07T10:19:00Z HP:0004301 UMLS:C4021778 human_phenotype owl:Class HP:0007939 biolink:NamedThing Blue cone monochromacy A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. hp0009lx5z Incomplete achromatopsia|Blue cone monochromatism|S-cone monochromacy UMLS:C0339537|SNOMEDCT_US:24704003|MSH:C536238 human_phenotype owl:Class HP:0500244 biolink:NamedThing Increased CSF ornithine concentration Abnormally increased levels of ornithine in cerebrospinal fluid. hp0009lx5z High ornithine levels in cerebrospinal fluid 2019-02-26 15:36:36+00:00 owl:Class HP:0500243 biolink:NamedThing Abnormal CSF ornithine concentration Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. hp0009lx5z Abnormal ornithine levels in cerebrospinal fluid 2019-02-26 15:36:15+00:00 owl:Class HP:0000690 biolink:NamedThing Agenesis of maxillary lateral incisor Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. hp0009lx5z Absence of maxillary lateral incisor|Absent upper lateral incisors|Absence of upper lateral incisor|Missing maxillary lateral incisor|Missing upper lateral incisor|Failure of development of maxillary lateral incisor UMLS:C1849950|UMLS:C4083046 human_phenotype owl:Class HP:0200153 biolink:NamedThing Agenesis of lateral incisor hp0009lx5z Absence of lateral incisor|Failure of development of lateral incisor|Missing lateral incisor UMLS:C4021881|UMLS:C4227831 owl:Class HP:0100434 biolink:NamedThing Bullet-shaped middle phalanx of the 3rd toe An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped middle bone of the 3rd toe UMLS:C4022093 human_phenotype owl:Class HP:0003752 biolink:NamedThing Episodic flaccid weakness Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. hp0009lx5z UMLS:C4025572 human_phenotype owl:Class HP:0010547 biolink:NamedThing Muscle flaccidity A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation. hp0009lx5z peter 2009-09-29T09:21:45Z SNOMEDCT_US:186611004|UMLS:C0026825|SNOMEDCT_US:397488002|MSH:D009123 human_phenotype owl:Class HP:0008026 biolink:NamedThing Horizontal opticokinetic nystagmus hp0009lx5z UMLS:C4024754 human_phenotype owl:Class HP:0030765 biolink:NamedThing Sleep terror Episodes of intense fear, screaming and flailing although affected individuals are still asleep. hp0009lx5z Sleep terrors|Night terror|Pavor nocturnus Sleep terrors may occur in individuals who are sleepwalking. SNOMEDCT_US:89675003|MSH:D020184|UMLS:C0037320 owl:Class HP:0025235 biolink:NamedThing Non-rapid eye movement parasomnia A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep). hp0009lx5z NREM parasomnia 2016-12-14 11:55:11+00:00 NREM parasomnias usually occur within a few hours after sleep onset, episodes last from a few minutes to as long as 30-40 min, and are characterised by amnesia for the event. HPO:probinson owl:Class HP:0025337 biolink:NamedThing Red eye A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. hp0009lx5z Red eyes|Red eye 2017-02-12 12:27:39+00:00 HPO:probinson owl:Class HP:0008047 biolink:NamedThing Abnormality of the vasculature of the eye hp0009lx5z Abnormality of eye blood vessels peter 2008-04-02T12:10:00Z UMLS:C4024752 owl:Class HP:0010002 biolink:NamedThing Complete duplication of the middle phalanges of the hand A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism. hp0009lx5z Complete duplication of the middle bones of the hand doelkens 2009-05-26T03:55:02Z UMLS:C4024117 human_phenotype owl:Class HP:0005117 biolink:NamedThing Elevated diastolic blood pressure Abnormal increase in diastolic blood pressure. hp0009lx5z Elevated diastolic BP Normal diastolic blood pressure is less than 80 mmHg. peter 2008-03-25T06:43:00Z UMLS:C1840375 human_phenotype owl:Class HP:0032263 biolink:NamedThing Increased blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. hp0009lx5z Increased BP 2019-01-27 20:07:59+00:00 peter owl:Class HP:0032642 biolink:NamedThing Renal interstitial necrotizing granulomas An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. hp0009lx5z Renal interstitial necrotizing granulomata Granulomatous inflammation is a distinctive form of chronic inflammation produced in response to various infectious, autoimmune, toxic, allergic, and neoplastic conditions. peter owl:Class HP:0032641 biolink:NamedThing Renal interstitial granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. hp0009lx5z Renal interstitial granulomata peter owl:Class HP:0012404 biolink:NamedThing Abnormal urine citrate concentration A deviation from normal of the concentration of citrate(3-) in the urine. hp0009lx5z Abnormal urine citrate concentration|Abnormal urine citric acid concentration peter 2013-11-09T03:51:30Z UMLS:C4022913 human_phenotype owl:Class HP:0032820 biolink:NamedThing Neonatal multifocal clonic seizure Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites. hp0009lx5z peter owl:Class HP:0003477 biolink:NamedThing Peripheral axonal neuropathy An abnormality characterized by disruption of the normal functioning of peripheral axons. hp0009lx5z Axonal peripheral neuropathy|Axonal neuropathy This abnormality can be assay by electromyography (EMG) or by nerve biopsy. HP:0006842|HP:0008304|HP:0007169|HP:0006814 SNOMEDCT_US:128208007|SNOMEDCT_US:60703000|UMLS:C1263857|UMLS:C0270921 human_phenotype owl:Class HP:0008708 biolink:NamedThing Partial development of the penile shaft hp0009lx5z UMLS:C1837379 human_phenotype owl:Class HP:0032645 biolink:NamedThing Renal interstitial mononuclear cell infiltration Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). hp0009lx5z peter owl:Class HP:0009723 biolink:NamedThing Abnormality of the subungual region A lesion located beneath a fingernail or toenail. hp0009lx5z peter 2009-01-31T09:49:06Z UMLS:C4024219 owl:Class HP:0032700 biolink:NamedThing Focal cognitive seizure with left-right confusion A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation. hp0009lx5z Left-right confusion is the inability to distinguish right from left. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. peter owl:Class HP:0002384 biolink:NamedThing Focal impaired awareness seizure Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. hp0009lx5z Partial seizure with impairment of awareness|Complex focal seizures|Focal seizure with impairment of awareness|Localized dyscognitive seizure|Complex partial seizure|Localized seizure with impaired awareness|Focal seizures with impairment of consciousness or awareness|Focal dyscognitive seizure|Localised seizure with loss of awareness|Focal impaired awareness seizures|Dyscognitive seizures|Complex partial seizures|Focal seizure with loss of awareness|Localised seizure with impaired awareness|Partial seizure with loss of awareness|Localized seizure with loss of awareness|Localised dyscognitive seizure|Partial dyscognitive seizure Awareness during a seizure is defined as the person being fully aware of themselves and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms 'complex partial seizure' and 'focal dyscognitive seizure' were previously used to denote a focal impaired awareness seizure. HP:0002278 UMLS:C0149958|UMLS:C0270834|SNOMEDCT_US:4103001 owl:Class HP:0100064 biolink:NamedThing Stippling of the epiphyses of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe. hp0009lx5z Speckled calcifications in the end part of the 3rd toe bone doelkens 2010-06-24T09:58:55Z UMLS:C4022357 human_phenotype owl:Class HP:0032277 biolink:NamedThing Lozenge-shaped umbilicus hp0009lx5z 2019-01-27 21:47:25+00:00 An ovoid depression of the tissue that immediately surrounds the umbilicus, resulting in a lozenge-shaped depression encircling a slightly prominent (protruding) umbilicus. peter owl:Class HP:0000011 biolink:NamedThing Neurogenic bladder A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. hp0009lx5z Lack of bladder control due to nervous system injury Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. SNOMEDCT_US:397732007|MSH:D001750|SNOMEDCT_US:398064005|UMLS:C0005697 human_phenotype owl:Class HP:0005369 biolink:NamedThing Decreased serum complement factor H A reduced level of the complement component Factor H in circulation. hp0009lx5z UMLS:C1969222 human_phenotype owl:Class HP:0004945 biolink:NamedThing Extracranial internal carotid artery dissection A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall. hp0009lx5z UMLS:C4025267 human_phenotype owl:Class HP:0005294 biolink:NamedThing Arterial dissection A separation (dissection) of the layers of an artery. hp0009lx5z SNOMEDCT_US:710864009|SNOMEDCT_US:26845001|MSH:D000784|UMLS:C0002949|SNOMEDCT_US:9406001|SNOMEDCT_US:233992003 human_phenotype owl:Class HP:0010025 biolink:NamedThing Triangular epiphysis of the 1st metacarpal hp0009lx5z Triangular end part of the 1st long bone of hand doelkens 2009-05-27T04:02:50Z UMLS:C4024099 human_phenotype owl:Class HP:0009696 biolink:NamedThing Triangular epiphyses of the thumb hp0009lx5z Triangular end part of the thumb bone doelkens 2009-01-30T09:20:16Z UMLS:C4024231 human_phenotype owl:Class HP:0006064 biolink:NamedThing Limited interphalangeal movement hp0009lx5z Limited movement of hinge joints UMLS:C1840089 human_phenotype owl:Class HP:0009380 biolink:NamedThing Aplasia of the fingers Aplasia of one or more fingers. hp0009lx5z Absent fingers doelkens 2009-01-13T01:05:32Z HP:0004093 UMLS:C0728895|SNOMEDCT_US:71358006 human_phenotype owl:Class HP:0005895 biolink:NamedThing Radial deviation of thumb terminal phalanx hp0009lx5z UMLS:C4025111 human_phenotype owl:Class HP:0031923 biolink:NamedThing Hematocolpos Accumulation of blood in the vagina usually due to vaginal obstruction. hp0009lx5z Haematocolpos 2018-07-04 12:19:38+00:00 peter owl:Class HP:0030302 biolink:NamedThing Agenesis of the anterior commissure Absence of the anterior commissure. hp0009lx5z UMLS:C1851087 owl:Class HP:0030301 biolink:NamedThing Abnormality of the anterior commissure An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. hp0009lx5z The human brain commissures comprise the corpus callosum, the anterior commissure, the fornix, and the posterior commissure. UMLS:C4022525 owl:Class HP:0007617 biolink:NamedThing Fine, reticulate skin pigmentation hp0009lx5z UMLS:C4024828 human_phenotype owl:Class HP:0005089 biolink:NamedThing Abnormal metaphyseal trabeculation An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. hp0009lx5z HP:0006360 UMLS:C1857139 human_phenotype owl:Class HP:0032452 biolink:NamedThing Oral melanoacanthoma Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions. hp0009lx5z 2019-03-08 11:04:08+00:00 Oral melanoacanthoma is a relatively uncommon melanocytic lesion that may cause rapid, diffuse, and dark pigmentation of a large mucosal area. However, this is an innocuous pathology that is often self-limiting and may spontaneously resolve, with or without surgical intervention. peter owl:Class HP:0100669 biolink:NamedThing Abnormal pigmentation of the oral mucosa An abnormality of the pigmentation of the mucosa of the mouth. hp0009lx5z Abnormal colour of the oral mucosa|Abnormal pigmentation of oral mucous membrane|Abnormal pigmentation of the oral mucosa/gingivae|Abnormal pigmentation of oral cavity|Abnormal color of the oral mucosa doelkens 2010-12-30T01:25:45Z UMLS:C4020959 human_phenotype owl:Class HP:0100574 biolink:NamedThing Biliary tract neoplasm A tumor (abnormal growth of tissue) of the biliary system. hp0009lx5z Neoplasia of the biliary tract doelkens 2010-12-21T05:18:27Z HP:0030152 MSH:D001661|SNOMEDCT_US:126853008|UMLS:C4020709|NCIT:C3262|UMLS:C0005426 human_phenotype owl:Class HP:0000474 biolink:NamedThing Thickened nuchal skin fold A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (PMID:16100637). hp0009lx5z Excess nuchal skin|Thickened skin over the neck|Thickened skin folds of neck|Increased nuchal fold thickness|Thickened nuchal skin A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). HP:0000477 UMLS:C1836940 human_phenotype owl:Class HP:0002438 biolink:NamedThing Cerebellar malformation hp0009lx5z UMLS:C4025708 human_phenotype owl:Class HP:0011617 biolink:NamedThing Pulmonary situs ambiguus An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same. hp0009lx5z peter 2012-04-08T09:24:21Z UMLS:C4023269 human_phenotype owl:Class HP:0011615 biolink:NamedThing Abnormal pulmonary situs morphology An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi. hp0009lx5z Abnormality of pulmonary situs peter 2012-04-08T09:20:13Z UMLS:C4023271 owl:Class HP:0410185 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level in tissue An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue. hp0009lx5z Abnormal G6PD level in tissue 2018-05-21 18:01:15+00:00 owl:Class HP:0410176 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level An anomaly in the level of glucose-6-phosphate dehydrogenase. hp0009lx5z Abnormal G6PD level 2018-05-21 17:49:08+00:00 owl:Class HP:0500091 biolink:NamedThing Lymphangioma of the orbit A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. hp0009lx5z 2018-03-27 14:55:41+00:00 owl:Class HP:0100764 biolink:NamedThing Lymphangioma Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. hp0009lx5z doelkens 2011-06-07T10:41:13Z UMLS:C0024221|NCIT:C8965|SNOMEDCT_US:400178008|SNOMEDCT_US:254836000|SNOMEDCT_US:253057002|SNOMEDCT_US:69044001|MSH:D008202 human_phenotype owl:Class HP:0007836 biolink:NamedThing Mosaic corneal dystrophy hp0009lx5z UMLS:C4024786 human_phenotype owl:Class HP:0001131 biolink:NamedThing Corneal dystrophy An abnormality of the cornea that is characterized by opacity of one or parts of the cornea. hp0009lx5z HP:0007775 SNOMEDCT_US:5587004|UMLS:C0010036 human_phenotype owl:Class HP:0030846 biolink:NamedThing Abnormality of venous physiology An anomaly of venous function. hp0009lx5z UMLS:C4280744 owl:Class HP:0011583 biolink:NamedThing Cervical ectopia cordis A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum. hp0009lx5z This type of ectopia cordis presumably represents a retention of the heart in its embryonic position in the neck. peter 2012-04-08T01:11:40Z UMLS:C4023286 human_phenotype owl:Class HP:0011139 biolink:NamedThing Gastric duplication Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach. hp0009lx5z Gastric duplication cyst Gastric duplication usually presents as gastric outlet obstruction. They are usually spherical in form, do not communicate with the stomach, and are generally localized at the greater curvature. In some cases they may exhibit adhesion to the pancreas and even communicate with aberrant pancreatic ducts. Gastric duplication is more frequent in females. It is generally either diagnosed in infancy because of symptoms of gastric outlet obstruction or is an incidental finding in adulthood. peter 2011-06-25T08:57:09Z UMLS:C4021201 human_phenotype owl:Class HP:0005184 biolink:NamedThing Prolonged QTc interval A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. hp0009lx5z UMLS:C1560305 human_phenotype owl:Class HP:0007371 biolink:NamedThing Corpus callosum atrophy The presence of atrophy (wasting) of the corpus callosum. hp0009lx5z Atrophy of the corpus callosum|Atrophic corpus callosum|Atrophy/Degeneration of the corpus callosum peter 2008-04-01T10:36:00Z HP:0005712 SNOMEDCT_US:253142006|UMLS:C0431370 owl:Class HP:0030844 biolink:NamedThing Undetectable pattern electroretinogram Absent response to a pattern electroretinogram (PERG). hp0009lx5z UMLS:C4280746 owl:Class HP:0030467 biolink:NamedThing Abnormal pattern electroretinogram An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. hp0009lx5z UMLS:C4072957 owl:Class HP:0003568 biolink:NamedThing Decreased glucosephosphate isomerase level A decreased level of glucose-6-phosphate isomerase. hp0009lx5z Phosphohexose isomerase deficiency|Decreased glucose phosphate isomerase activity|Glucosephosphate isomerase deficiency Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9). HP:0003290 SNOMEDCT_US:124669001|UMLS:C1291611 human_phenotype owl:Class HP:0003146 biolink:NamedThing Hypocholesterolemia An decreased concentration of cholesterol in the blood. hp0009lx5z Decreased circulating cholesterol level UMLS:C0151718|SNOMEDCT_US:61336008 human_phenotype owl:Class HP:0003107 biolink:NamedThing Abnormal circulating cholesterol concentration Any deviation from the normal concentration of cholesterol in the blood circulation. hp0009lx5z Abnormal cholesterol homeostasis|Abnormality of cholesterol metabolism peter 2008-03-17T01:02:00Z HP:0003464 UMLS:C4025656 human_phenotype owl:Class HP:0410309 biolink:NamedThing Alpha-aminoadipic aciduria A increased concentration of alpha-aminoadipic acid in the urine. hp0009lx5z 2-aminoadipic aciduria https://orcid.org/0000-0001-5208-3432 owl:Class HP:0003215 biolink:NamedThing Dicarboxylic aciduria An increased concentration of dicarboxylic acid in the urine. hp0009lx5z Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine. UMLS:C1856432 owl:Class HP:0002967 biolink:NamedThing Cubitus valgus Abnormal positioning in which the elbows are turned out. hp0009lx5z Outward turned elbows UMLS:C0158465|SNOMEDCT_US:54583007 human_phenotype owl:Class HP:0032964 biolink:NamedThing Uric acid crystalluria The presence of uric acid crystals in the urine. hp0009lx5z Uric acid crystals are very pleiomorphic, but the rhomboidal shape is the most frequent. Distinctive morphological features are the amber colour and the constant polychromatic birefringence. These crystals can be found both in normal subjects as well as in stone formers. Moreover, they can be found, alone or with amorphous urates in patients with increased purine metabolism. peter owl:Class HP:0012883 biolink:NamedThing Fallopian tube cyst A fluid filled sac located in the Fallopian tube. hp0009lx5z hecht 2014-06-11T08:00:04Z SNOMEDCT_US:59401005|UMLS:C0269173 human_phenotype owl:Class HP:0006302 biolink:NamedThing Dagger-shaped pulp calcifications Dagger-shaped calcifications in the dental pulp. hp0009lx5z Dagger shaped pulp denticles|Dagger shaped pulp stones UMLS:C4025067 owl:Class HP:0003771 biolink:NamedThing Pulp calcification Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies. hp0009lx5z Pulp denticles|False pulp stones|True denticles|Pulp stones|True pulp stones|False denticles|Pulpoliths|Pulp calcifications UMLS:C4280546|UMLS:C1527284|SNOMEDCT_US:57602001|UMLS:C4280259|MSH:D003784 owl:Class HP:0002851 biolink:NamedThing Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. hp0009lx5z Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors HP:0002845 UMLS:C1858973 human_phenotype owl:Class HP:0032796 biolink:NamedThing Focal impaired awareness cognitive seizure with left-right confusion A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0033975 biolink:NamedThing Absent second fingernail Absence of the fingernail of the index (second) finger. hp0009lx5z 2021-06-25 13:58:53+00:00 peter owl:Class HP:0001817 biolink:NamedThing Absent fingernail Absence of a fingernail. hp0009lx5z Anonychia of fingernails|Aplasia of the fingernail|Absent fingernail UMLS:C1844554 human_phenotype owl:Class HP:0032017 biolink:NamedThing Sputum eosinophilia An increased proportion of eosinophils in sputum in the differentiated cell count. hp0009lx5z 2018-08-25 12:39:58+00:00 Sputum eosinophilia can be measured in various ways including measuing the mean percentage of eosinophils in the cell count of sputum induced by application of saline. The threshold chosen differs between studies, typically ranging from 1.25 to 3 percent. Increased sputum eosinophil counts may indicate a risk for severe chronic obstructive pulmonary disease or severe asthma. peter owl:Class HP:0005643 biolink:NamedThing Short 3rd toe Underdevelopment (hypoplasia) of the third toe. hp0009lx5z Brachydactyly of third toes|Short third toe|Short 3rd toe UMLS:C4021628 human_phenotype owl:Class HP:0001831 biolink:NamedThing Short toe A toe that appears disproportionately short compared to the foot. hp0009lx5z Stubby toes|Hypoplastic toes|Brachydactyly of the foot|Short foot phalanges|Short toe|Hypoplasia of the toe|Short toes This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly. HP:0001855|HP:0008099|HP:0005889|HP:0001781|HP:0004701|HP:0001767 UMLS:C1836195 human_phenotype owl:Class HP:0100955 biolink:NamedThing Giant cell granuloma of mandible hp0009lx5z doelkens 2011-12-02T04:57:10Z UMLS:C4021912 human_phenotype owl:Class HP:0031054 biolink:NamedThing Long segment coarctation of the aorta Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta. hp0009lx5z 2017-05-27 17:10:07+00:00 peter owl:Class HP:0011131 biolink:NamedThing Perianal rash The presence of a rash (change of color and texture) of the perianal skin. hp0009lx5z peter 2011-06-19T12:16:41Z UMLS:C0240705 owl:Class HP:0200055 biolink:NamedThing Small hand Disproportionately small hand. hp0009lx5z Disproportionately small hands|Small hands|Small hand sebastiankohler UMLS:C0575802|SNOMEDCT_US:299032009 human_phenotype owl:Class HP:0010000 biolink:NamedThing Complete duplication of the proximal phalanges of the hand A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. hp0009lx5z Complete duplication of the innermost bones of the hand doelkens 2009-05-26T03:55:02Z UMLS:C4024119 human_phenotype owl:Class HP:0005206 biolink:NamedThing Pancreatic pseudocyst Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis. hp0009lx5z MSH:D010192|SNOMEDCT_US:111374002|UMLS:C0030299 human_phenotype owl:Class HP:0012090 biolink:NamedThing Abnormal pancreas morphology hp0009lx5z Abnormality of pancreas morphology|Abnormally shaped pancreas peter 2012-08-20T09:16:38Z UMLS:C4023049 owl:Class HP:0007866 biolink:NamedThing Retinal infarction hp0009lx5z UMLS:C0281967 human_phenotype owl:Class HP:0010290 biolink:NamedThing Short hard palate Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective). hp0009lx5z Decreased length of hard palate|Short palate|Hypoplastic palate Objective measurement of the hard palate requires special instrumentation [Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers]. A short hard palate may be associated with velopharyngeal incompetence. peter 2009-07-12T11:28:44Z UMLS:C1398301|UMLS:C4023918|UMLS:C4020772 human_phenotype owl:Class HP:0100737 biolink:NamedThing Abnormal hard palate morphology hp0009lx5z Abnormality of the secondary palate|Abnormality of the hard palate doelkens 2011-06-06T05:42:10Z UMLS:C4021983 human_phenotype owl:Class HP:0001894 biolink:NamedThing Thrombocytosis Increased numbers of platelets in the peripheral blood. hp0009lx5z Thrombocythemia|Increased platelet count|Increased number of platelets in blood|Thrombocythaemia Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. SNOMEDCT_US:6631009|MSH:D013922|UMLS:C0857460|UMLS:C0836924|SNOMEDCT_US:415115007 human_phenotype owl:Class HP:0011873 biolink:NamedThing Abnormal platelet count Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. hp0009lx5z peter 2012-05-30T08:11:13Z UMLS:C0580317|SNOMEDCT_US:165558001 human_phenotype owl:Class HP:0010317 biolink:NamedThing Scapular aplasia Absence of the scapulae. hp0009lx5z Absent shoulder blade|Absent scapula peter 2009-07-14T11:40:24Z UMLS:C4021298 human_phenotype owl:Class HP:0032425 biolink:NamedThing Abnormal HDL3a concentration Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. hp0009lx5z 2019-03-02 13:48:59+00:00 peter owl:Class HP:0032418 biolink:NamedThing Abnormal HDL subfraction concentration An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm). hp0009lx5z 2019-03-02 13:28:34+00:00 Traditionally, HDL is separated into two major subclasses (HDL2 and HDL3), but depending on the separation method used, u[ to 10 subfractions have been reported. peter owl:Class HP:0033365 biolink:NamedThing Endogenous lipoid pneumonia A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace. hp0009lx5z 2020-12-16 11:45:51+00:00 Endogenous lipoid pneumonia is a histopathologic diagnosis made on the basis of the characteristic appearance of the obstructive pneumonitis. Macroscopically, there is parenchymal consolidation that has a characteristic yellowish discoloration due to the accumulation of lipid in the alveoli. Histologically, there is an accumulation of lipid-filled macrophages and eosinophilic proteinaceous material derived from degenerating cells, including surfactant from type II pneumocytes, in the alveoli distal to the bronchial obstruction. peter owl:Class HP:0033364 biolink:NamedThing Lipoid pneumonia A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid. hp0009lx5z 2020-12-16 11:45:01+00:00 peter owl:Class HP:0001112 biolink:NamedThing Leber optic atrophy Degeneration of retinal ganglion cells and their axons. hp0009lx5z Leber optic atrophy features|Leber optic degeneration HP:0001086 SNOMEDCT_US:58610003|UMLS:C0917796|MSH:D029242 human_phenotype owl:Class HP:0010764 biolink:NamedThing Short eyelashes Decreased length of the eyelashes (subjective). hp0009lx5z Decreased length of eyelashes|Short eyelashes Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. peter 2010-04-24T03:31:00Z UMLS:C2748682 human_phenotype owl:Class HP:0003434 biolink:NamedThing Sensory ataxic neuropathy hp0009lx5z UMLS:C1843859 human_phenotype owl:Class HP:3000043 biolink:NamedThing Abnormal facial vein morphology An abnormality of a facial vein. hp0009lx5z Abnormality of facial vein|Abnormal vein of face vasilevs 2015-08-07T01:04:44Z UMLS:C4073251 human_phenotype owl:Class HP:0031927 biolink:NamedThing Flexner-Wintersteiner rosette The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil. hp0009lx5z 2018-07-04 13:26:44+00:00 A type of rosette in which a halo of cells surrounds a largely empty central hub. Small cytoplasmic extensions from the cells project into the lumen. peter owl:Class HP:0033166 biolink:NamedThing Recurrent viral upper respiratory tract infections An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis). hp0009lx5z 2020-09-24 09:36:07+00:00 peter owl:Class HP:0011978 biolink:NamedThing Elevated urinary vanillylmandelic acid An increased concentration of vanillylmandelic acid in the urine. hp0009lx5z Increased urinary vanillylmandelic acid peter 2012-07-18T09:11:52Z UMLS:C4020735 human_phenotype owl:Class HP:0010732 biolink:NamedThing Nodular changes affecting the eyelids Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. hp0009lx5z Eyelid nodules doelkens 2010-04-21T05:11:04Z UMLS:C4023716 human_phenotype owl:Class HP:0045084 biolink:NamedThing Limb myoclonus hp0009lx5z Myoclonus of limbs Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573 owl:Class HP:0007668 biolink:NamedThing Impaired pursuit initiation and maintenance hp0009lx5z UMLS:C1969722 human_phenotype owl:Class HP:0000617 biolink:NamedThing Abnormality of ocular smooth pursuit An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. hp0009lx5z Abnormal smooth pursuits|Disrupted ocular pursuit movements|Impaired smooth pursuit ocular movements|Irregular visual pursuit movements Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea. HP:0008006|HP:0007671 UMLS:C1836393 human_phenotype owl:Class HP:0033106 biolink:NamedThing Elevated circulating D-dimer concentration An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation. hp0009lx5z Elevated fibrin degradation fragment concentration|Elevated D-dimers 2020-08-29 11:29:26+00:00 The D-dimer antigen is a unique marker of fibrin degradation that is formed by the sequential action of 3 enzymes: thrombin, factor XIIIa, and plasmin. First, thrombin cleaves fibrinogen producing fibrin monomers, which polymerize and serve as a template for factor XIIIa and plasmin formation. Second, thrombin activates plasma factor XIII bound to fibrin polymers to produce the active transglutaminase, factor XIIIa. Factor XIIIa catalyzes the formation of covalent bonds between D-domains in the polymerized fibrin. Finally, plasmin degrades the crosslinked fibrin to release fibrin degradation products and expose the D-dimer antigen. D-dimer measurement has been most comprehensively validated in (1) the exclusion of venous thromboembolism (VTE) in certain patient populations and (2) the diagnosis and monitoring of coagulation activation in disseminated intravascular coagulation. Anormal D-dimer in the appropriate clinical context denotes that there is no major ongoing activation of intravascular coagulation, and serves as a reliable tool for the exclusion of VTE. peter owl:Class HP:0011446 biolink:NamedThing Abnormality of higher mental function Cognitive, psychiatric or memory anomaly. hp0009lx5z peter 2012-03-18T04:23:59Z UMLS:C4023352 owl:Class HP:0009142 biolink:NamedThing Duplication of bones involving the upper extremities hp0009lx5z Duplication of bones involving the upper extremities peter 2008-05-02T01:23:00Z UMLS:C4024574 human_phenotype owl:Class HP:0003443 biolink:NamedThing Decreased size of nerve terminals A reduction in the size of nerve terminals. hp0009lx5z Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy. UMLS:C4025615 human_phenotype owl:Class HP:0002023 biolink:NamedThing Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. hp0009lx5z Absent anus|Imperforate anus HP:0001550 SNOMEDCT_US:204712000|Fyler:4443|MEDDRA:10002120|SNOMEDCT_US:204731006|Fyler:4402|UMLS:C0003466|MSH:D001006 human_phenotype owl:Class HP:0000522 biolink:NamedThing Alacrima Absence of tear secretion. hp0009lx5z Absent lacrimal fluids|Absence of tears in the eyes|Absent tear secretion Alacrima is generally a congenital deficiency. MSH:C562827|SNOMEDCT_US:253215004|UMLS:C0344505 human_phenotype owl:Class HP:0020161 biolink:NamedThing Branch retinal artery occlusion Blockage of a branch of the retinal artery. This can cause loss of a section of visual field. hp0009lx5z robinp 2019-07-06 20:57:42+00:00 owl:Class HP:0003563 biolink:NamedThing Decreased LDL cholesterol concentration An decreased concentration of low-density lipoprotein cholesterol in the blood. hp0009lx5z Decreased LDLc concentration|Decreased circulating low-density lipoprotein levels|Decreased LDL|Hypobetalipoproteinemia Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. UMLS:C0020597|SNOMEDCT_US:190786004|UMLS:C0853085|MSH:D006995 human_phenotype owl:Class HP:0010981 biolink:NamedThing Hypolipoproteinemia An abnormal decrease in the level of lipoprotein cholesterol in the blood. hp0009lx5z Lack of fat in blood peter 2011-02-07T11:01:50Z SNOMEDCT_US:267436001|MSH:D007009|SNOMEDCT_US:363140000|UMLS:C0020623 human_phenotype owl:Class HP:0012088 biolink:NamedThing Abnormal urinary odor A deviation from the normal odor of the urine. hp0009lx5z Abnormal urine smell|Abnormal urinary odour|Abnormal urinary odor Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine. peter 2012-08-20T09:13:26Z UMLS:C0278045|SNOMEDCT_US:8769003 human_phenotype owl:Class HP:0011254 biolink:NamedThing Type II cryptotia A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected. hp0009lx5z Type 2 cryptotia peter 2011-12-18T02:15:48Z UMLS:C4023441 human_phenotype owl:Class HP:0011252 biolink:NamedThing Cryptotia Invagination of the superior part of the auricle under a fold of temporal skin. hp0009lx5z Hidden ear|Buried ear There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected. peter 2011-12-18T02:12:10Z UMLS:C2315717|SNOMEDCT_US:429967001 human_phenotype owl:Class HP:0006353 biolink:NamedThing Hypoplasia of the tooth germ Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth. hp0009lx5z Hypoplastic tooth buds|Underdevelopment of tooth germ|Hypotrophic tooth germ|Small tooth germ|Decreased size of tooth germ|Decreased size of tooth bud|Underdevelopment of tooth bud|Small tooth bud UMLS:C4025055 human_phenotype owl:Class HP:0000685 biolink:NamedThing Hypoplasia of teeth Developmental hypoplasia of teeth. hp0009lx5z Underdevelopment of teeth|Decreased size of teeth|Hypoplastic teeth HP:0000688|HP:0006281|HP:0006307 UMLS:C0235357|UMLS:C4280611 human_phenotype owl:Class HP:0005102 biolink:NamedThing Cochlear degeneration Deterioration or loss of the tissues of the cochlea. hp0009lx5z Progressive cochlear degeneration peter 2008-03-25T05:06:00Z HP:0008156 UMLS:C1849095 human_phenotype owl:Class HP:0031325 biolink:NamedThing Myocardial granulomatous infiltrates The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium. hp0009lx5z 2017-08-27 12:21:00+00:00 peter owl:Class HP:0030897 biolink:NamedThing Decreased intestinal transit time A reduction in the length of time required for food to pass through the intestines. hp0009lx5z owl:Class HP:0030896 biolink:NamedThing Abnormal gastrointestinal transit time A deviation from the normal amount of time required for food to pass through the intestines. hp0009lx5z Abnormal GI transit time Gastrointestinal motility is usually described in terms of regional transit times or as intraluminal pressure changes. Scintigraphy is the gold standard for determination of gastric emptying and small intestinal transit owl:Class HP:0030199 biolink:NamedThing Fatigable weakness of neck muscles A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. hp0009lx5z UMLS:C4022584 owl:Class HP:0030197 biolink:NamedThing Fatigable weakness of skeletal muscles A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. hp0009lx5z UMLS:C4022586 owl:Class HP:0100830 biolink:NamedThing Round ear hp0009lx5z Round ear doelkens 2011-06-09T05:41:29Z UMLS:C4021959 human_phenotype owl:Class HP:0004454 biolink:NamedThing Abnormal middle ear reflexes hp0009lx5z UMLS:C1970887 human_phenotype owl:Class HP:0005238 biolink:NamedThing Discrete intestinal polyps hp0009lx5z UMLS:C4025229 human_phenotype owl:Class HP:0200008 biolink:NamedThing Intestinal polyposis The presence of multiple polyps in the intestine. hp0009lx5z Growths in inner lining of intestine|Multiple intestinal polyps|Gastrointestinal polyps sebastiankohler 2010-06-09T11:38:54Z UMLS:C0744333|MSH:D044483|UMLS:C1257915 human_phenotype owl:Class HP:0008978 biolink:NamedThing Necrotizing myopathy hp0009lx5z UMLS:C4024608 human_phenotype owl:Class HP:0011892 biolink:NamedThing Low levels of vitamin K A reduced concentration of vitamin K. hp0009lx5z peter 2012-06-02T05:21:14Z SNOMEDCT_US:52675005|MSH:D014813|UMLS:C0042880 human_phenotype owl:Class HP:0410353 biolink:NamedThing Decreased complex N-glycan level An abnormal decrease in the concentration of complex N-glycans on glycoproteins. hp0009lx5z Increased truncated complex N-glycans on glycoproteins owl:Class HP:0020042 biolink:NamedThing Double depressor palsy An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. hp0009lx5z 2017-12-20 17:12:54+00:00 robinp owl:Class HP:0032870 biolink:NamedThing Focal impaired awareness cognitive seizure with dyslexia/alexia A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0032694 biolink:NamedThing Focal cognitive seizure with dyslexia/alexia A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation. hp0009lx5z Dyslexia / alexia is the inability to read due to an impairment in understanding written words rather than visual impairment. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. peter owl:Class HP:0011720 biolink:NamedThing Cardiac total anomalous pulmonary venous connection Type 2 total anomalous pulmonary venous connection. hp0009lx5z Cardiac total anomalous pulmonary venous connexion|Type 2 total anomalous pulmonary venous connection|Total anomalous pulmonary venous connection, intracardiac peter 2012-04-11T08:51:32Z Fyler:0930|Fyler:930|Fyler:0920|UMLS:C4021130|Fyler:920 human_phenotype owl:Class HP:0005160 biolink:NamedThing Total anomalous pulmonary venous return Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. hp0009lx5z Total anomalous pulmonary venous drainage|Total anomalous pulmonary venous connection Pulmonary veins drain through abnormal connections to the right atrium. HP:0005153|HP:0005175 MSH:D012587|SNOMEDCT_US:39905002|UMLS:C0036400|Fyler:0900|Fyler:900|SNOMEDCT_US:111323005 human_phenotype owl:Class HP:0010837 biolink:NamedThing Decreased circulating ceruloplasmin concentration Decreased concentration of ceruloplasmin in the blood. hp0009lx5z Decreased serum ceruloplasmin|Hypoceruloplasminemia|Hypoceruloplasminaemia|Decreased serum ceruloplasminA Ceruloplasmin is the major copper-carrying protein in the serum. Decreased serum ceruloplasmin levels can indicate other defects in copper metabolism. peter 2010-07-10T07:39:36Z UMLS:C0240997 owl:Class HP:0033144 biolink:NamedThing Abnormal circulating ceruloplasmin concentration Any deviation of the concentration of ceruloplasmin in the blood from the normal range. hp0009lx5z 2020-09-15 11:10:40+00:00 Ceruloplasmin is a serum ferroxidase responsible for 90 percent of copper transport. Also, ceruloplasmin is a positive acute-phase reactant, meaning its levels will increase in inflammatory conditions or cell injury. peter owl:Class HP:0007779 biolink:NamedThing Anterior segment of eye aplasia hp0009lx5z UMLS:C1853234 human_phenotype owl:Class HP:0007881 biolink:NamedThing Central corneal dystrophy hp0009lx5z UMLS:C4024778 human_phenotype owl:Class HP:0012589 biolink:NamedThing Multidrug-resistant nephrotic syndrome A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. hp0009lx5z peter 2014-01-16T03:48:49Z UMLS:C4022834 owl:Class HP:0007989 biolink:NamedThing Intraretinal exudate Retinal exudate within the retinal tissue itself. hp0009lx5z UMLS:C4024758 human_phenotype owl:Class HP:0009682 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb. hp0009lx5z Pseudoepiphysis of the outermost bone of the thumb doelkens 2009-01-30T09:18:09Z UMLS:C4024237 human_phenotype owl:Class HP:0030564 biolink:NamedThing Best corrected visual acuity 1.1 LogMAR hp0009lx5z UMLS:C4073037 owl:Class HP:0011171 biolink:NamedThing Simple febrile seizure A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. hp0009lx5z Simple febrile seizures|Simple fever fit|Simple febrile convulsion Fever may not be detected before the seizure, but it must be present at least in the immediate postacute period. In most cases these seizures are of a generalized tonic-clonic semiology. hecht 2011-11-19T10:09:04Z MSH:D003294|UMLS:C0149886|SNOMEDCT_US:432354000 owl:Class HP:0002373 biolink:NamedThing Febrile seizure (within the age range of 3 months to 6 years) A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. hp0009lx5z Fever induced seizures|Seizures, generalized, associated with fever|Febrile convulsion|Febrile seizures|Seizures, febrile, in early childhood Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. HP:0002175|HP:0007102 UMLS:C0009952|SNOMEDCT_US:41497008|MSH:D003294 owl:Class HP:0030498 biolink:NamedThing Macular thickening Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. hp0009lx5z UMLS:C4072986 owl:Class HP:0012114 biolink:NamedThing Endometrial carcinoma A carcinoma of the endometrium, the mucous lining of the uterus. hp0009lx5z hecht 2012-09-16T04:37:32Z MSH:D016889|SNOMEDCT_US:254878006|UMLS:C0476089 human_phenotype owl:Class HP:0005563 biolink:NamedThing Decreased numbers of nephrons A reduction in the count of nephrons per kidney. hp0009lx5z Oligonephronia|Decreased numbers of glomeruli UMLS:C2673888|UMLS:C1841994 human_phenotype owl:Class HP:0012575 biolink:NamedThing Abnormal nephron morphology A structural anomaly of the nephron. hp0009lx5z Abnormality of the nephron peter 2014-01-16T12:49:04Z UMLS:C4022838 human_phenotype owl:Class HP:0003848 biolink:NamedThing Cupped metaphyses of the upper limbs hp0009lx5z Cupped wide portion of the upper limb bone UMLS:C4025555 human_phenotype owl:Class HP:0002033 biolink:NamedThing Poor suck An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. hp0009lx5z Sucking weakness|Poor suck|Poor sucking UMLS:C1837142 human_phenotype owl:Class HP:0005527 biolink:NamedThing Reduced kininogen activity Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade. hp0009lx5z Fitzgerald factor deficiency|Williams factor deficiency|Kininogen deficiency|Williams-Fitzgerald-Flaujeac factor deficiency Kininogen is cleaved into the following 6 chains: 1) Kininogen-1 heavy chain; 2) T-kinin; 3) Bradykinin; 4) Lysyl-bradykinin; 5) Kininogen-1 light chain; and 6) Low molecular weight growth-promoting factor. HP:0005538|HP:0005530|HP:0005500|HP:0004867 MSH:C537060|SNOMEDCT_US:27312002|UMLS:C0272340 human_phenotype owl:Class HP:0011251 biolink:NamedThing Underdeveloped antitragus Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. hp0009lx5z Hypoplastic antitragus|Small antitragus|Hypotrophic antitragus peter 2011-12-18T01:59:04Z UMLS:C4021186 human_phenotype owl:Class HP:0009896 biolink:NamedThing Abnormality of the antitragus An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. hp0009lx5z peter 2009-04-30T10:13:21Z UMLS:C4024167 human_phenotype owl:Class HP:0007598 biolink:NamedThing Bilateral single transverse palmar creases The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. hp0009lx5z UMLS:C1862095 human_phenotype owl:Class HP:0000954 biolink:NamedThing Single transverse palmar crease The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. hp0009lx5z Transverse palmar crease|Simian creases|Simian crease|Single palmar crease|Single palmar creases|Single flexion crease|Simian line|Single transverse palmar creases The presence of a single palmar crease (instead of the two palmar creases that are typically present). HP:0006214 SNOMEDCT_US:248409006|UMLS:C0424731 human_phenotype owl:Class HP:0032077 biolink:NamedThing Male urethral meatus stenosis An abnormal narrowing of the urethral opening (meatus) of the penis. hp0009lx5z Meatus stenosis|Meatal stenosis 2018-10-14 13:40:16+00:00 If the sex is not indicated, meatal stenosis is generally taken to refer to males, and thus we list this term as an exact synonym. peter owl:Class HP:0032076 biolink:NamedThing Abnormal male urethral meatus morphology hp0009lx5z 2018-10-14 13:36:20+00:00 peter owl:Class HP:0002827 biolink:NamedThing Hip dislocation Displacement of the femur from its normal location in the hip joint. hp0009lx5z Hip dislocation|Dislocation of hip|Dislocated hips HP:0001375 SNOMEDCT_US:157265008|UMLS:C0019554|MSH:D006617 human_phenotype owl:Class HP:0033256 biolink:NamedThing Pancolitis Inflammation of the entire colon. hp0009lx5z 2020-11-27 19:37:38+00:00 peter owl:Class HP:0000132 biolink:NamedThing Menorrhagia Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. hp0009lx5z Abnormally heavy bleeding during menstruation|Abnormally heavy periods|Hypermenorrhea HP:0100609 MSH:D008595|UMLS:C0025323|SNOMEDCT_US:386692008 owl:Class HP:0200070 biolink:NamedThing Peripheral retinal atrophy hp0009lx5z Wasting of the outer part of the retina sebastiankohler 2013-05-31T01:48:09Z UMLS:C3553016 human_phenotype owl:Class HP:0001105 biolink:NamedThing Retinal atrophy Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. hp0009lx5z UMLS:C0035304|SNOMEDCT_US:405722004|MSH:D012162|UMLS:C0521694|SNOMEDCT_US:95695004 human_phenotype owl:Class HP:0030856 biolink:NamedThing Posterior staphyloma A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. hp0009lx5z UMLS:C0155360|SNOMEDCT_US:87819007 owl:Class HP:0011922 biolink:NamedThing Abnormal activity of mitochondrial respiratory chain An increased or decreased activity of the mitochondrial respiratory chain. hp0009lx5z peter 2012-06-08T08:57:44Z UMLS:C4023126 human_phenotype owl:Class HP:0100383 biolink:NamedThing Aplasia of the middle phalanx of the 5th toe hp0009lx5z Absent middle bone of little toe|Absent middle bone of pinkie toe|Absent middle bone of pinky toe UMLS:C4022110 human_phenotype owl:Class HP:0009759 biolink:NamedThing Neck pterygia Pterygia affecting the neck. hp0009lx5z Neck pterygium peter 2009-01-31T10:10:09Z UMLS:C1849577 human_phenotype owl:Class HP:0500207 biolink:NamedThing Decreased CSF lysine concentration Abnormally decreased levels of lysine in cerebrospinal fluid. hp0009lx5z Low lysine levels in cerebrospinal fluid 2019-02-25 18:31:54+00:00 owl:Class HP:0500206 biolink:NamedThing Abnormal CSF lysine concentration Any deviation from the normal concentration of lysine in the cerebrospinal fluid. hp0009lx5z Abnormal lysine levels in cerebrospinal fluid 2019-02-25 18:31:42+00:00 owl:Class HP:0100158 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 3rd toe hp0009lx5z Bracket shaped end part of the innermost bone of 3rd toe doelkens 2010-06-24T10:24:45Z UMLS:C4022263 human_phenotype owl:Class HP:0005508 biolink:NamedThing Monoclonal immunoglobulin M proteinemia Presence of a monoclonal immunoglobulin M protein in the serum. hp0009lx5z Waldenstrom macroglobulinemia This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells. MSH:D008258|SNOMEDCT_US:35562000|SNOMEDCT_US:190818004|UMLS:C0024419|SNOMEDCT_US:190817009 human_phenotype owl:Class HP:0032726 biolink:NamedThing Focal impaired awareness hyperkinetic seizure A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0009084 biolink:NamedThing Midline notch of upper alveolar ridge hp0009lx5z Midline cleft of maxillary alveolar process|Midline notch of maxillary alveolar process|Midline notch of upper gum ridge|Midline notch of maxillary alveolar ridge|Midline cleft of upper alveolar ridge UMLS:C1851853 human_phenotype owl:Class HP:0007359 biolink:NamedThing Focal-onset seizure A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. hp0009lx5z Focal seizures|Focal-onset seizures|Focal seizure|Seizure affecting one half of brain|Partial seizure|Focal onset seizure|Partial seizures In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. peter 2008-03-31T05:27:00Z HP:0040168|HP:0002358 UMLS:C0751495|MSH:D012640|SNOMEDCT_US:29753000 owl:Class HP:0007503 biolink:NamedThing Generalized ichthyosis hp0009lx5z Generalised ichthyosis UMLS:C3552528 human_phenotype owl:Class HP:0008064 biolink:NamedThing Ichthyosis An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. hp0009lx5z Ichthyosiform abnormality of the skin|Hypertrophic ichthyosis|Ichthyotic skin The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder. peter 2008-04-02T03:41:00Z HP:0007547|HP:0000955 MSH:D007057|MEDDRA:10021198|UMLS:C0020757 human_phenotype owl:Class HP:0003986 biolink:NamedThing Exostoses of the radius hp0009lx5z UMLS:C4025463 human_phenotype owl:Class HP:0002818 biolink:NamedThing Abnormality of the radius An abnormality of the radius. hp0009lx5z UMLS:C4025675 human_phenotype owl:Class HP:0001433 biolink:NamedThing Hepatosplenomegaly Simultaneous enlargement of the liver and spleen. hp0009lx5z Enlarged liver and spleen peter 2008-02-20T10:51:00Z SNOMEDCT_US:36760000|UMLS:C0019214 human_phenotype owl:Class HP:0003271 biolink:NamedThing Visceromegaly Abnormal increased size of the viscera of the abdomen. hp0009lx5z Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas. UMLS:C0042782|SNOMEDCT_US:28543008 human_phenotype owl:Class HP:0030002 biolink:NamedThing Nocturnal lagophthalmos The inability to close the eyelids during sleep. hp0009lx5z Inability to close the eyelids at night|Eyelids stay open at night Lagophthalmos is associated with exposure keratopathy, poor sleep, and persistent exposure-related symptoms. There are a variety of causes of lagophthalmos, grouped as proptosis/eye exposure etiologies and palpebral insufficiency etiologies. SNOMEDCT_US:417740005|UMLS:C1563118 owl:Class HP:0009498 biolink:NamedThing Triangular epiphyses of the 2nd finger A triangular appearance of the epiphyses of the 2nd finger of the hand. hp0009lx5z Triangular end part of the index finger doelkens 2009-01-16T01:07:16Z UMLS:C4024328 human_phenotype owl:Class HP:0033719 biolink:NamedThing EEG with parietal epileptiform discharges Focal epileptiform EEG discharges recorded in the parietal region. hp0009lx5z 2021-04-07 12:59:53+00:00 peter owl:Class HP:0025353 biolink:NamedThing Anti-multiple nuclear dots antibody positivity A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells. hp0009lx5z Anti-sp100 antibody positivity|Anti-MND antibodies 2017-02-13 00:25:10+00:00 Sp100 is the main antigenic target of MND reactivity. Anti-MND activity can be seen in primary biliary cirrhosis and in other conditions. Anti-sp100 antibodies are directed against sp100 antigen found within nuclear bodies; large protein complexes in the nucleus that may have a role in cell growth and differentiation. Anti-sp100 antibodies are found in approximately 20-30% of patients diagnosed with primary biliary cirrhosis (PBC). HPO:probinson owl:Class HP:0004379 biolink:NamedThing Abnormality of alkaline phosphatase level An abnormality of alkaline phosphatase level. hp0009lx5z Alkaline phosphatase abnormal|Abnormality of ALP level|Abnormality of alkaline phosphatase activity Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease. peter 2008-03-18T08:13:00Z UMLS:C4020829|UMLS:C4025328 human_phenotype owl:Class HP:0032100 biolink:NamedThing Abnormal doll's eye reflex The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage. hp0009lx5z 2018-11-04 11:33:35+00:00 peter owl:Class HP:0007670 biolink:NamedThing Abnormal vestibulo-ocular reflex An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. hp0009lx5z Abnormal vestibuloocular reflex UMLS:C4021571 human_phenotype owl:Class HP:0010494 biolink:NamedThing Acromelia of the lower limbs Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments. hp0009lx5z peter 2009-09-17T11:04:51Z UMLS:C4023805 human_phenotype owl:Class HP:0100041 biolink:NamedThing Broad 3rd toe A broad appearance of the third toe. hp0009lx5z Wide 3rd toe|Broad 3rd toe doelkens 2010-06-24T09:54:55Z UMLS:C4022380 human_phenotype owl:Class HP:0005855 biolink:NamedThing Multiple prenatal fractures The presence of bone fractures in the prenatal period that are diagnosed at birth or before. hp0009lx5z Numerous multiple fractures present at birth|Numerous multiple fractures that are present at birth|Multiple fractures present at birth|Congenital bone fractures|Multiple fractures, present at birth HP:0002811|HP:0005761 UMLS:C1853171 human_phenotype owl:Class HP:0002659 biolink:NamedThing Increased susceptibility to fractures An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. hp0009lx5z Increased tendency to fractures|Increased bone fragility|Abnormal susceptibility to fractures|Bone fragility|Increased susceptibility to fractures|Frequent broken bones This is a bundled term that will be made obsolete. HP:0005710|HP:0002798|HP:0002662|HP:0005931|HP:0005783 UMLS:C1390474 human_phenotype owl:Class HP:0001315 biolink:NamedThing Reduced tendon reflexes Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. hp0009lx5z Decreased to absent deep tendon reflexes|Diminished or absent deep tendon reflexes|Impaired tendon reflexes|Diminished or absent tendon reflexes|Depressed tendon reflexes|Decreased deep tendon reflexes|Decreased tendon reflexes|Decreased/absent deep tendon reflexes|Reduced/absent deep tendon reflexes|Weak or absent deep tendon reflexes|Hypoactive to absent deep tendon reflexes|Diminished deep tendon reflexes|Absent or decreased deep tendon reflexes The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect. HP:0001316 UMLS:C1866934 human_phenotype owl:Class HP:0031826 biolink:NamedThing Abnormal reflex Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). hp0009lx5z 2018-05-02 01:05:40+00:00 peter owl:Class HP:0200047 biolink:NamedThing Chondritis of pinna Inflammation of the cartilage of the external ear. hp0009lx5z Inflammation of cartilage of pinna sebastiankohler 2011-02-02T02:02:10Z UMLS:C0741305 owl:Class HP:0011293 biolink:NamedThing EEG with central sharp waves EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec. hp0009lx5z peter 2012-02-11T12:32:48Z UMLS:C2207327 human_phenotype owl:Class HP:0009324 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 3rd finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the middle bone of the middle finger doelkens 2009-01-12T11:15:44Z UMLS:C4024441 human_phenotype owl:Class HP:0033470 biolink:NamedThing 10-minute APGAR score of 2 hp0009lx5z 2021-01-09 22:45:32+00:00 peter owl:Class HP:0006471 biolink:NamedThing Fixed elbow flexion hp0009lx5z UMLS:C4025044 human_phenotype owl:Class HP:0006376 biolink:NamedThing Limited elbow flexion hp0009lx5z UMLS:C1856922 human_phenotype owl:Class HP:0041237 biolink:NamedThing Fractured patella A partial or complete breakage of the patella. hp0009lx5z bone patella owl:Class HP:0012136 biolink:NamedThing Dysplastic granulopoesis hp0009lx5z peter 2012-09-16T08:05:13Z UMLS:C4023030 human_phenotype owl:Class HP:0012135 biolink:NamedThing Abnormal granulocytopoietic cell morphology An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. hp0009lx5z Abnormality of cells of the granulocytic lineage peter 2012-09-16T08:02:11Z UMLS:C4023031 human_phenotype owl:Class HP:0007737 biolink:NamedThing Bone spicule pigmentation of the retina Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). hp0009lx5z Retinal pigmented bone spicules|Fundus with peripheral bony spicules|Bone corpuscle fundus pigmentation|Retinal bone corpuscle pigmentation|Retinal 'bone corpuscle' pigmentation HP:0007823|HP:0007644|HP:0007683 UMLS:C1836926 human_phenotype owl:Class HP:0410031 biolink:NamedThing Submucous cleft of soft and hard palate Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. hp0009lx5z 2017-06-20 23:09:33+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0004948 biolink:NamedThing Vascular tortuosity Abnormal twisting of arteries or veins. hp0009lx5z Twisted blood vessels UMLS:C2673776 human_phenotype owl:Class HP:0006557 biolink:NamedThing Polycystic liver disease hp0009lx5z SNOMEDCT_US:72925005|MSH:C536330|UMLS:C0158683 human_phenotype owl:Class HP:0011286 biolink:NamedThing Total colonic aganglionosis A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon. hp0009lx5z peter 2012-01-01T03:03:46Z MSH:D006627|SNOMEDCT_US:360441005|SNOMEDCT_US:253780003|UMLS:C0085758 human_phenotype owl:Class HP:0007002 biolink:NamedThing Motor axonal neuropathy Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. hp0009lx5z Length dependent motor neuropathy|Distal motor neuropathy Distal motor neuropathy is a bundled term that should not be used if more detailed information about the phenotype is available. HP:0007349 UMLS:C2749625|UMLS:C1854570|UMLS:C4020811 human_phenotype owl:Class HP:0008784 biolink:NamedThing Wide capital femoral epiphyses Abnormally wide morphology of the proximal epiphysis of the femur. hp0009lx5z Wide end part of innermost thighbone UMLS:C4024622 human_phenotype owl:Class HP:0031837 biolink:NamedThing Decreased superoxide dismutase level Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. hp0009lx5z Decreased superoxide:superoxide oxidoreductase activity 2018-05-05 13:01:54+00:00 peter owl:Class HP:0031835 biolink:NamedThing Abnormal superoxide dismutase level An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. hp0009lx5z Abnormal superoxide:superoxide oxidoreductase activity 2018-05-05 12:59:29+00:00 peter owl:Class HP:0011704 biolink:NamedThing Sick sinus syndrome An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. hp0009lx5z Sinoatrial node disease peter 2012-04-10T11:31:17Z MSH:D012804|UMLS:C0037052|SNOMEDCT_US:36083008 human_phenotype owl:Class HP:0002839 biolink:NamedThing Urinary bladder sphincter dysfunction Abnormal function of a sphincter of the urinary bladder. hp0009lx5z Sphincter disturbances|Sphincter disturbance HP:0000018 UMLS:C1843663 human_phenotype owl:Class HP:0032899 biolink:NamedThing Focal orofacial automatism seizure A type of focal automatism seizure characterized by orofacial automatisms at onset. hp0009lx5z These may include involuntary lip smacking, lip pursing, chewing, swallowing, clicking sounds, or eye-blinking. peter owl:Class HP:0000651 biolink:NamedThing Diplopia Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. hp0009lx5z Double vision MSH:D004172|UMLS:C0012569|SNOMEDCT_US:24982008 human_phenotype owl:Class HP:0011514 biolink:NamedThing Abnormality of binocular vision An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. hp0009lx5z peter 2012-04-06T06:00:34Z UMLS:C4023320 human_phenotype owl:Class HP:0010414 biolink:NamedThing Broad distal phalanx of the 2nd toe hp0009lx5z Wide outermost bone of the 2nd toe|Broad outermost bone of the 2nd toe doelkens 2009-07-16T12:44:41Z UMLS:C4023842 human_phenotype owl:Class HP:0032578 biolink:NamedThing Third ventricle colloid cyst An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus. hp0009lx5z The colloid cyst is most commonly found in the rostral third ventricle at or near the foramen of Monro. The foramen of Monro is the conduit of cerebrospinal fluid (CSF) outflow from the lateral ventricles to the third ventricle. A colloid cyst can act as a ball valve, stopping CSF flow out of the lateral ventricles. If this occurs, CSF backs up into the lateral ventricles and causes ventriculomegaly and hydrocephalus. peter owl:Class HP:0100888 biolink:NamedThing Interdigital loops hp0009lx5z doelkens 2011-12-01T04:50:01Z UMLS:C4021944 human_phenotype owl:Class HP:0030458 biolink:NamedThing Abnormal timing of pattern onset/offset visual evoked potentials hp0009lx5z UMLS:C4072949 owl:Class HP:0030456 biolink:NamedThing Abnormality of pattern onset/offset visual evoked potentials hp0009lx5z Abnormality of pattern onset/offset VEP UMLS:C4072947 owl:Class HP:0006825 biolink:NamedThing Pallor of dorsal columns of the spinal cord hp0009lx5z UMLS:C1865416 human_phenotype owl:Class HP:0011397 biolink:NamedThing Abnormality of the dorsal column of the spinal cord An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. hp0009lx5z The dorsal column represents an ascending pathway mediating well-localized fine touch and conscious proprioception. peter 2012-03-12T07:39:12Z UMLS:C4023376 human_phenotype owl:Class HP:0100417 biolink:NamedThing Partial duplication of the distal phalanx of the 4th toe Partial duplication of the distal phalanx of fourth toe. hp0009lx5z Partial duplication of the distal phalanx of the fourth toe|Partial duplication of the outermost bone of the fourth toe UMLS:C4020982 human_phenotype owl:Class HP:0100399 biolink:NamedThing Duplication of the distal phalanx of the 4th toe Partial or complete duplication of the distal phalanx of fourth toe. hp0009lx5z Duplication of the distal phalanx of the fourth toe|Duplication of the outermost bone of the 4th toe|Partial/complete duplication of the distal phalanx of the 4th toe UMLS:C4020998 human_phenotype owl:Class HP:0009636 biolink:NamedThing Triangular shaped proximal phalanx of the thumb Triangular shaped proximal phalanx of the thumb. hp0009lx5z Triangular proximal thumb phalanx|Triangular innermost thumb bone doelkens 2009-01-29T05:09:41Z HP:0004080 UMLS:C4021419 human_phenotype owl:Class HP:0005769 biolink:NamedThing Fifth finger distal phalanx clinodactyly Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). hp0009lx5z Curvature of outermost bone of little finger|Curvature of outermost bone of pinky finger|Curvature of outermost bone of pinkie finger UMLS:C4025139|UMLS:C4280477 human_phenotype owl:Class HP:0031874 biolink:NamedThing Late chronotype A tendency towards rising very late in the morning and going to bed late at night. hp0009lx5z Late sleep onset 2018-05-06 14:03:08+00:00 peter owl:Class HP:0004003 biolink:NamedThing Medially flattened radial epiphyses hp0009lx5z UMLS:C4025454 human_phenotype owl:Class HP:0500053 biolink:NamedThing Retinopathy of prematurity stage 4 Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment. hp0009lx5z ROP stage 4 2018-02-19 18:51:13+00:00 Stage 4 can occur after treatment (unlike stages 1-3) and may be accelerated by the absence of vascular endothelial growth factor posttreatment leading to an accelerated cicatricial phase. ORCID:0000-0001-7941-2961 owl:Class HP:0004713 biolink:NamedThing Reversible renal failure Acute renal failure with resolution of manifestations. hp0009lx5z Reversible renal failure|Reversible kidney failure UMLS:C1843276 human_phenotype owl:Class HP:0000083 biolink:NamedThing Renal insufficiency A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. hp0009lx5z Renal failure in adulthood|Renal failure HP:0004723|HP:0000084 UMLS:C0035078|MSH:D051437|UMLS:C1565489|SNOMEDCT_US:42399005|SNOMEDCT_US:236423003|UMLS:C1839604 human_phenotype owl:Class HP:0010302 biolink:NamedThing Spinal cord tumor A neoplasm affecting the spinal cord. hp0009lx5z Tumour of the spinal cord|Spinal tumors|Spinal tumor|Spinal cord tumor|Spinal tumours|Spinal tumour|Tumor of the spinal cord|Spinal cord tumour peter 2009-07-12T01:05:50Z HP:0009712 MSH:D013120|NCIT:C3262|SNOMEDCT_US:126962006|UMLS:C0037930 human_phenotype owl:Class HP:0011809 biolink:NamedThing Paradoxical myotonia A type of myotonia that worsens with repeated muscle contractions. hp0009lx5z In classic myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia (paramyotonia) it worsens with repeated muscle contractions. peter 2012-04-27T01:20:08Z UMLS:C4023179 human_phenotype owl:Class HP:0012758 biolink:NamedThing Neurodevelopmental delay hp0009lx5z peter 2014-04-03T12:16:19Z UMLS:C4022738 human_phenotype owl:Class HP:0003076 biolink:NamedThing Glycosuria An increased concentration of glucose in the urine. hp0009lx5z Glucosuria|Glucose in urine Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. HP:0003122 MSH:D006029|UMLS:C0017979|SNOMEDCT_US:45154002 human_phenotype owl:Class HP:0011016 biolink:NamedThing Abnormality of urine glucose concentration An abnormality of the concentration of glucose in the urine. hp0009lx5z peter 2011-02-21T11:09:32Z UMLS:C4023596 human_phenotype owl:Class HP:0032949 biolink:NamedThing Renal interstitial calcium phosphate deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. hp0009lx5z peter owl:Class HP:0007364 biolink:NamedThing Aplasia/Hypoplasia of the cerebrum hp0009lx5z Absent/underdeveloped cerebrum|Absent/small cerebrum peter 2008-03-31T05:43:00Z UMLS:C4024902 human_phenotype owl:Class HP:0009286 biolink:NamedThing Curved distal phalanx of the 4th finger Curved appearance of the distal phalanx of the 4th (ring) finger. hp0009lx5z Curved outermost ring finger bone doelkens 2009-01-08T03:46:28Z UMLS:C4024469 human_phenotype owl:Class HP:0011087 biolink:NamedThing Talon cusp Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). hp0009lx5z Extra cusp on inside of front tooth|Talon cusps|Dens evaginatus peter 2011-03-11T02:00:28Z SNOMEDCT_US:63691004|UMLS:C0399357|UMLS:C4280335|UMLS:C0266034|SNOMEDCT_US:234955005 owl:Class HP:0100035 biolink:NamedThing Phonic tics Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound. hp0009lx5z Vocal tics|Verbal tics doelkens 2010-06-10T12:13:57Z UMLS:C0751901|MSH:D020323 human_phenotype owl:Class HP:0004234 biolink:NamedThing Bone-in-a-bone appearance of carpal bones The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones. hp0009lx5z Bone-in-a-bone appearance of wrist bones UMLS:C4025403 human_phenotype owl:Class HP:0033578 biolink:NamedThing Pre-capillary pulmonary hypertension Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). hp0009lx5z Precapillary pulmonary hypertension 2021-01-24 14:20:32+00:00 peter owl:Class HP:0100832 biolink:NamedThing Vitreous floaters Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. hp0009lx5z Flitting flies|Mouches volantes|Vitreous debris|Spots in front of eyes|Myodesopsia|Eye floaters|Myodeopsia|Vitreous condensations|Vitreous opacities|Vitreous veils Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil. doelkens 2011-06-09T05:58:09Z UMLS:C0016242|SNOMEDCT_US:420999000|SNOMEDCT_US:15013002|UMLS:C1720491|SNOMEDCT_US:162278001 human_phenotype owl:Class HP:0032803 biolink:NamedThing Focal impaired awareness cognitive seizure with dysgraphia/agraphia A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0032699 biolink:NamedThing Focal cognitive seizure with dysgraphia/agraphia A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation. hp0009lx5z Dysgraphia / agraphia is difficulty in writing. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. peter owl:Class HP:0500052 biolink:NamedThing Retinopathy of prematurity stage 3 The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina. hp0009lx5z ROP stage 3 2018-02-19 18:43:45+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0002002 biolink:NamedThing Deep philtrum Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. hp0009lx5z Pronounced philtrum|Increased depth of philtrum|Philtrum, deep|Prominent philtrum|Depressed philtrum Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. HP:0000305|HP:0004654 UMLS:C4020861|UMLS:C1839797 human_phenotype owl:Class HP:0008273 biolink:NamedThing Transient aminoaciduria hp0009lx5z UMLS:C4024713 owl:Class HP:0003029 biolink:NamedThing Enlargement of the ankles hp0009lx5z Enlargement of the ankles UMLS:C1838664 human_phenotype owl:Class HP:0003028 biolink:NamedThing Abnormality of the ankles hp0009lx5z Abnormality of the ankles UMLS:C4025660 human_phenotype owl:Class HP:0011091 biolink:NamedThing Gemination The development of two teeth from a single tooth bud, leading to a larger fused tooth. hp0009lx5z Gemination of tooth|Splitting of crown of tooth If the fused tooth is counted singly, then the total number of teeth is normal with gemination. Usually, there is a larger dental crown with a single root and single canal. peter 2011-03-11T02:19:11Z UMLS:C0266033|SNOMEDCT_US:40273006 owl:Class HP:0011089 biolink:NamedThing Double tooth Fusion of two adjacent teeth. hp0009lx5z Conjoined teeth|Twinning tooth|Double tooth|Teeth, double The fusion can be complete or be limited to the crown or the root. Typically, incisors and canines form double teeth. Double teeth are more common in the deciduous dentition and rare in the permanent dentition. Double teeth encompasses fusion, concrescence, and gemination of teeth, which some authors describe with the twinning. peter 2011-03-11T02:13:26Z SNOMEDCT_US:1744008|UMLS:C0016873|MSH:D005671 owl:Class HP:0002953 biolink:NamedThing Vertebral compression fracture hp0009lx5z Compression fracture of a vertebral body|Vertebral compression|Vertebral compression fractures|Vertebral compression or collapse|Vertebral body compression|Fractures of vertebral bodies|Vertebral collapse UMLS:C0410550|SNOMEDCT_US:42942008|SNOMEDCT_US:84138006|UMLS:C0262431 owl:Class HP:0032799 biolink:NamedThing Focal impaired awareness hemiclonic seizure A focal hemiclonic seizure in which awareness is impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0008009 biolink:NamedThing Three rows of eyelashes hp0009lx5z Three rows of eyelashes|Triple row of eyelashes UMLS:C1860785 human_phenotype owl:Class HP:0008496 biolink:NamedThing Multiple rows of eyelashes hp0009lx5z Extra rows of eyelashes|Double row of eyelashes|Multiple rows of eyelashes|Two rows of eyelashes UMLS:C0423848|SNOMEDCT_US:95339000|UMLS:C3550336 human_phenotype owl:Class HP:0000180 biolink:NamedThing Lobulated tongue Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. hp0009lx5z Lingual lobules|Bumpy tongue|Lobulate tongue Lobulated tongue can bilobed, trilobed, or show multiple lobes. SNOMEDCT_US:253752000|UMLS:C0431564 human_phenotype owl:Class HP:0005327 biolink:NamedThing Loss of facial expression hp0009lx5z Loss of facial expression UMLS:C1852476 human_phenotype owl:Class HP:0004673 biolink:NamedThing Decreased facial expression A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. hp0009lx5z Decreased facial expression UMLS:C1862474 human_phenotype owl:Class HP:0009658 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the thumb hp0009lx5z Absent/underdeveloped thumb bones|Absent/small thumb bones doelkens 2009-01-29T05:29:26Z HP:0005834 UMLS:C4024256 human_phenotype owl:Class HP:0031246 biolink:NamedThing Nonproductive cough A cough that does not produce phlegm or mucus. hp0009lx5z Dry coughing|Dry cough 2017-08-12 13:19:10+00:00 peter owl:Class HP:0030035 biolink:NamedThing Struvite nephrolithiasis Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). hp0009lx5z Struvite kidney stones UMLS:C4021056 owl:Class HP:0032887 biolink:NamedThing Generalized atonic seizure Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature. hp0009lx5z Generalised atonic seizure Atonic means without tone. When leg tone is lost during a generalized atonic seizure, the patient falls on the buttocks or sometimes forward onto the knees and face. Recovery is usually within seconds. peter owl:Class HP:0010819 biolink:NamedThing Atonic seizure Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. hp0009lx5z Drop seizures|Atonic seizures|Astatic seizures|Drop attacks|Hypotonic seizure|Astatic seizure|Sudden loss of muscle tone|Hypotonic seizures This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known. peter 2010-07-10T03:13:06Z HP:0002124 UMLS:C0270846|UMLS:C1836509|SNOMEDCT_US:42365007|SNOMEDCT_US:189198006 human_phenotype owl:Class HP:0009469 biolink:NamedThing Contracture of the distal interphalangeal joint of the 3rd finger Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. hp0009lx5z Contracture of the outermost hinge joint of the 3rd finger doelkens 2009-01-15T09:50:20Z UMLS:C4024344 human_phenotype owl:Class HP:0009697 biolink:NamedThing Contracture of the distal interphalangeal joint of the fingers Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. hp0009lx5z doelkens 2009-01-30T04:01:28Z UMLS:C4024230 human_phenotype owl:Class HP:0002578 biolink:NamedThing Gastroparesis Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. hp0009lx5z Delayed gastric emptying SNOMEDCT_US:235675006|SNOMEDCT_US:196753007|UMLS:C0152020|MSH:D018589 human_phenotype owl:Class HP:0000872 biolink:NamedThing Hashimoto thyroiditis A chronic, autoimmune type of thyroiditis associated with hypothyroidism. hp0009lx5z Hashimoto's thyroiditis|Chronic lymphocytic thyroiditis MSH:D050031|UMLS:C0677607|SNOMEDCT_US:21983002 human_phenotype owl:Class HP:3000053 biolink:NamedThing Abnormal hypopharynx morphology A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus. hp0009lx5z Abnormality of lower pharynx|Abnormality of hypopharynx vasilevs 2015-08-07T01:09:07Z UMLS:C4073261 owl:Class HP:0032561 biolink:NamedThing Microcephalic sperm head Decreased size of the head of sperm. hp0009lx5z Small-head sperm 2019-06-15 00:25:50+00:00 peter owl:Class HP:0100230 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 5th toe hp0009lx5z Increased bone density of end part of the innermost bone of the pinky toe|Increased bone density of end part of the innermost bone of the little toe|Increased bone density of end part of the innermost bone of the pinkie toe doelkens 2010-06-24T05:04:53Z UMLS:C4022191 human_phenotype owl:Class HP:0011265 biolink:NamedThing Cleft earlobe Discontinuity in the convexity of the inferior margin of the lobe. hp0009lx5z Cleft earlobe The cleft is often more visible if the lobe is pulled forward or when seen from behind. Tears acquired from earrings should be distinguished. peter 2011-12-18T07:39:52Z UMLS:C4023440 human_phenotype owl:Class HP:0008369 biolink:NamedThing Abnormal tarsal ossification An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. hp0009lx5z Abnormal ossification of tarsal bones|Hardening of ankle bones|Abnormal maturation of ankle bones peter 2008-04-04T11:53:00Z UMLS:C4025075|UMLS:C4021544 human_phenotype owl:Class HP:0010984 biolink:NamedThing Digenic inheritance A type of multifactorial inheritance governed by the simultaneous action of two gene loci. hp0009lx5z peter 2011-02-08T10:13:54Z UMLS:C4023614 human_phenotype owl:Class HP:0001426 biolink:NamedThing Multifactorial inheritance A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. hp0009lx5z Familial predisposition The observed inheritance for a multifactorial genetic trait or disorder may have a higher frequency within the same family, whether the etiology is genetic or environmental, or a combination of the two. HP:0001429|HP:0001472 UMLS:C0600599|MSH:D020412 human_phenotype owl:Class HP:0012281 biolink:NamedThing Chylous ascites Extravasation of chyle into the peritoneal cavity. hp0009lx5z Chyloperitoneum peter 2013-04-07T04:08:42Z SNOMEDCT_US:52985009|MSH:D002915|UMLS:C0008732 human_phenotype owl:Class HP:0001541 biolink:NamedThing Ascites Accumulation of fluid in the peritoneal cavity. hp0009lx5z Accumulation of fluid in the abdomen Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. UMLS:C0003962|MSH:D001201|SNOMEDCT_US:389026000 human_phenotype owl:Class HP:0100758 biolink:NamedThing Gangrene A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). hp0009lx5z Death of body tissue due to lack of blood flow or infection This may occur after an injury or infection, or in people suffering from any chronic health problem affecting blood circulation. The prime cause of gangrene is reduced blood supply to the affected tissues, which results in cell death. Diabetes and long-term smoking increase the risk of suffering from gangrene. There are different types of gangrene with different symptoms, such as dry gangrene, wet gangrene, gas gangrene, internal gangrene and necrotising fasciitis. Treatment options include debridement (or, in severe cases, amputation) of the affected body parts, antibiotics, vascular surgery, maggot therapy or hyperbaric oxygen therapy. doelkens 2011-06-07T10:19:11Z SNOMEDCT_US:372070002|UMLS:C0017086|MSH:D005734|SNOMEDCT_US:36024000 owl:Class HP:0031029 biolink:NamedThing Elevated carcinoembryonic antigen level An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker. hp0009lx5z Increased plasma CEA 2017-05-27 10:48:16+00:00 peter owl:Class HP:0012580 biolink:NamedThing Calcium phosphate nephrolithiasis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. hp0009lx5z Ca phosphate urolithiasis|Ca2+ phosphate nephrolitiasis|Ca phosphate nephrolithiasis|Calcium phosphate urolithiasis|Ca2+ phosphate urolithiasis peter 2014-01-16T01:34:27Z UMLS:C3671880 human_phenotype owl:Class HP:0009511 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 2nd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger. hp0009lx5z Speckled calcifications in end part of the outermost bone of the index finger doelkens 2009-01-16T01:11:04Z UMLS:C4024320 human_phenotype owl:Class HP:0012065 biolink:NamedThing Multiple bony cystic lesions Presence of multiple cystic changes in multiple areas or multiple bones. hp0009lx5z Multiple bony cystic lesions hecht 2012-08-03T02:45:09Z UMLS:C4023063 human_phenotype owl:Class HP:0011703 biolink:NamedThing Sinus tachycardia Heart rate of greater than 100 beats per minute. hp0009lx5z Sinus tachy|Sinus tach peter 2012-04-10T11:30:45Z SNOMEDCT_US:11092001|MSH:D013616|UMLS:C0039239 human_phenotype owl:Class HP:0011702 biolink:NamedThing Abnormal electrophysiology of sinoatrial node origin An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. hp0009lx5z peter 2012-04-10T11:22:43Z Fyler:7010|UMLS:C4023222 human_phenotype owl:Class HP:0031398 biolink:NamedThing Increased proportion of naive T cells An abnormally increased proportion of naive T cells relative to the total number of T cells. hp0009lx5z Elevated proportion of naive T cells|Increased proportion of naive thymus-derived, alpha-beta T cells 2017-09-03 12:53:42+00:00 peter owl:Class HP:0032722 biolink:NamedThing Focal aware tonic seizure A type of focal tonic seizure during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0020064 biolink:NamedThing Abnormal eosinophil count Any deviation from the normal number of eosinophils per volume in the blood circulation. hp0009lx5z 2018-10-17 13:48:52+00:00 robinp owl:Class HP:0001107 biolink:NamedThing Ocular albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. hp0009lx5z Albinism, Ocular|Absent pigmentation in the eye Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia. HP:0007837|HP:0007745 UMLS:C0078917|SNOMEDCT_US:26399002|MSH:D016117 human_phenotype owl:Class HP:0100506 biolink:NamedThing Low levels of vitamin B8 A reduced concentration of vitamin B8. hp0009lx5z Vitamin B8 deficiency doelkens 2010-12-17T06:13:04Z UMLS:C4022037 human_phenotype owl:Class HP:0012166 biolink:NamedThing Skin-picking Repetitive and compulsive picking of skin which results in tissue damage. hp0009lx5z Dermatillomania|Compulsive skin picking peter 2013-02-20T07:12:33Z UMLS:C1696701|ICD-10:F63.3 human_phenotype owl:Class HP:0012819 biolink:NamedThing Myocarditis Inflammation of the myocardium. hp0009lx5z Inflammation of heart muscle Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. hecht 2014-05-28T09:01:32Z SNOMEDCT_US:50920009|MSH:D009205|UMLS:C0027059 owl:Class HP:0006159 biolink:NamedThing Mesoaxial hand polydactyly The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. hp0009lx5z Interdigital finger polydactyly|Central hand polydactyly HP:0001496|HP:0004056 UMLS:C4021606 human_phenotype owl:Class HP:0100260 biolink:NamedThing Mesoaxial polydactyly The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. hp0009lx5z Insertional polydactyly|Intercalary polydactyly|Central polydactyly doelkens 2010-07-20T11:00:32Z UMLS:C4020689|UMLS:C1848595 human_phenotype owl:Class HP:0002212 biolink:NamedThing Curly hair hp0009lx5z Curly hair UMLS:C0558165|SNOMEDCT_US:225570000 human_phenotype owl:Class HP:0040324 biolink:NamedThing Heliotrope rash In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower. hp0009lx5z Heliotrope erythema Heliotrope rash occurs during the initial phase of the idiopathic inflammatory myositis (particularly dermatomyositis). Heliotrope rash is a characteristic symptom of Dermatomyositis. ORCID:0000-0002-5316-1399 owl:Class HP:0033288 biolink:NamedThing Glomerular basement membrane spikes hp0009lx5z 2020-11-28 21:16:42+00:00 Delicate, silver positive projections that extend at right angles from the glomerular basement membrane (GBM) out into the urinary space, creating an irregular GBM profile. peter owl:Class HP:0005265 biolink:NamedThing Abnormal jejunum morphology An abnormality of the jejunum, i.e., of the middle section of the small intestine. hp0009lx5z Abnormality of the jejunum peter 2008-03-26T04:44:00Z UMLS:C4025224 owl:Class HP:0030832 biolink:NamedThing Vitreous strands Fiber- or rope-like opacities located within the vitreous humor. hp0009lx5z SNOMEDCT_US:28167005|UMLS:C0271408 owl:Class HP:0009218 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 4th finger Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger. hp0009lx5z Fragmentation of end part of the middle bone of the ring finger doelkens 2009-01-05T05:23:59Z UMLS:C4024523 human_phenotype owl:Class HP:0030081 biolink:NamedThing Punctate periventricular T2 hyperintense foci Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter. hp0009lx5z UMLS:C4022658 owl:Class HP:0001816 biolink:NamedThing Thin nail Nail that appears thin when viewed on end. hp0009lx5z Thin nails|Thin nail No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified. UMLS:C0423823|SNOMEDCT_US:63829008 human_phenotype owl:Class HP:0000843 biolink:NamedThing Hyperparathyroidism Excessive production of parathyroid hormone (PTH) by the parathyroid glands. hp0009lx5z Elevated blood parathyroid hormone level SNOMEDCT_US:66999008|MSH:D006961|UMLS:C0020502 human_phenotype owl:Class HP:0004912 biolink:NamedThing Hypophosphatemic rickets hp0009lx5z MSH:D063730|UMLS:C1704375|SNOMEDCT_US:66266003 human_phenotype owl:Class HP:0002148 biolink:NamedThing Hypophosphatemia An abnormally decreased phosphate concentration in the blood. hp0009lx5z Low blood phosphate level|Hypophosphataemia UMLS:C0085682|MSH:D017674|SNOMEDCT_US:4996001 human_phenotype owl:Class HP:0030620 biolink:NamedThing Inner retinal layer loss on macular OCT hp0009lx5z UMLS:C4073090 owl:Class HP:0002549 biolink:NamedThing Deficit in phonologic short-term memory Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory hp0009lx5z Deficit in non-word repetition|Impaired non-word repetition UMLS:C1847609 owl:Class HP:0009254 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 4th finger Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger. hp0009lx5z Fragmentation of end part of the outermost bone of the ring finger doelkens 2009-01-07T12:07:34Z UMLS:C4024493 human_phenotype owl:Class HP:0006012 biolink:NamedThing Widened metacarpal shaft hp0009lx5z Broad shaft of long bone of hand UMLS:C1850159 human_phenotype owl:Class HP:0011295 biolink:NamedThing EEG with parietal sharp waves EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec. hp0009lx5z peter 2012-02-11T12:33:29Z UMLS:C2206520 human_phenotype owl:Class HP:0002193 biolink:NamedThing Pseudobulbar behavioral symptoms Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. hp0009lx5z Pseudobulbar behavioural symptoms UMLS:C4025720 human_phenotype owl:Class HP:0010396 biolink:NamedThing Broad proximal phalanx of the 2nd toe hp0009lx5z Broad innermost bone of 2nd toe doelkens 2009-07-16T11:58:15Z UMLS:C4023858 human_phenotype owl:Class HP:0032482 biolink:NamedThing Decreased pituitary glycoprotein hormone alpha subunit level An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). hp0009lx5z Decreased pituitary glycoprotein alpha subunit level|Decreased pituitary glycoprotein polypeptide alpha subunit level 2019-04-11 11:33:21+00:00 This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. peter owl:Class HP:0100615 biolink:NamedThing Ovarian neoplasm A tumor (abnormal growth of tissue) of the ovary. hp0009lx5z Ovarian neoplasia|Ovarian tumour|Ovarian cancer|Ovarian tumor|Neoplasm of the ovary|Neoplasm of the ovaries doelkens 2010-12-28T11:37:01Z MSH:D010051|UMLS:C0919267|SNOMEDCT_US:123843001|NCIT:C3262 human_phenotype owl:Class HP:0000137 biolink:NamedThing Abnormality of the ovary An abnormality of the ovary. hp0009lx5z Abnormality of the ovaries|Abnormality of the ovary|Ovarian disease MSH:D010049|UMLS:C4021818|SNOMEDCT_US:5552004|UMLS:C0029928 human_phenotype owl:Class HP:0100317 biolink:NamedThing Argyrophilic inclusion bodies Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue. hp0009lx5z Agyrophilic inclusion bodies|Pick inclusion bodies doelkens 2010-08-10T03:35:26Z UMLS:C4021022 human_phenotype owl:Class HP:4000050 biolink:NamedThing Open fracture A type of fracture in which there is an open wound or break in the skin near the site of the broken bone. hp0009lx5z Compound fracture 2021-05-02 20:54:29+00:00 robinp owl:Class HP:0025524 biolink:NamedThing Palmoplantar scaling skin Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. hp0009lx5z Palmoplantar psoriasis 2017-05-17 23:50:31+00:00 HPO:probinson owl:Class HP:3000052 biolink:NamedThing Abnormality of hyoid bone An abnormality of a hyoid bone. hp0009lx5z vasilevs 2015-08-07T01:09:03Z UMLS:C4073260 human_phenotype owl:Class HP:0011842 biolink:NamedThing Abnormality of skeletal morphology An abnormality of the form, structure, or size of the skeletal system. hp0009lx5z Abnormally shaped skeletal peter 2012-05-07T08:08:37Z UMLS:C4023165 human_phenotype owl:Class HP:0006086 biolink:NamedThing Thin metacarpal cortices hp0009lx5z UMLS:C1850160 human_phenotype owl:Class HP:0010141 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the hallux hp0009lx5z Enlarged end part of the outermost bone of the big toe doelkens 2009-05-29T01:22:47Z UMLS:C4024018 human_phenotype owl:Class HP:0410197 biolink:NamedThing Increased uridine diphosphate glucose-4-epimerase level in red blood cells An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp0009lx5z Increased UDP-glucose 4-epimerase level in RBCs|Increased UDP-glucose 4-epimerase level in red blood cells 2018-05-21 18:24:12+00:00 owl:Class HP:0031263 biolink:NamedThing Abnormal renal corpuscle morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. hp0009lx5z 2017-08-12 18:30:25+00:00 peter owl:Class HP:0100280 biolink:NamedThing Crohn's disease A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. hp0009lx5z Morbus Crohn|Granulomatous enteritis and colitis doelkens 2010-08-10T09:26:05Z UMLS:C0010346|MSH:D003424|SNOMEDCT_US:34000006 human_phenotype owl:Class HP:0000887 biolink:NamedThing Cupped ribs Wide, concave rib end. hp0009lx5z Rib flaring|Rib cupping|Cupped ribs HP:0006635 UMLS:C0426826|SNOMEDCT_US:249704008|UMLS:C1865039 human_phenotype owl:Class HP:0031100 biolink:NamedThing Decreased inhibin B level A reduced concentration of inhibin B in the blood. hp0009lx5z 2017-05-30 02:19:26+00:00 Inhibin B, a dimer with an alpha and a betaB subunit, is produced exclusively by the testis and controls FSH secretion via a negative feedback mechanism. peter owl:Class HP:0031099 biolink:NamedThing Abnormal circulating inhibin level Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone. hp0009lx5z 2017-05-30 02:18:01+00:00 peter owl:Class HP:0100105 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 2nd toe hp0009lx5z Irregular end part of the outermost bone of the 2nd toe doelkens 2010-06-24T10:04:20Z UMLS:C4022316 human_phenotype owl:Class HP:0000863 biolink:NamedThing Central diabetes insipidus A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. hp0009lx5z Neurohypophyseal diabetes insipidus HP:0008210 UMLS:C0687720|MSH:D020790|SNOMEDCT_US:45369008 human_phenotype owl:Class HP:0000873 biolink:NamedThing Diabetes insipidus A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). hp0009lx5z UMLS:C0011848|SNOMEDCT_US:15771004|MSH:D003919 owl:Class HP:0003362 biolink:NamedThing Increased VLDL cholesterol concentration An increase in the amount of very-low-density lipoprotein cholesterol in the blood. hp0009lx5z Increased plasma VLDL cholesterol|Increased circulating very-low-density lipoprotein cholesterol|Increased circulating very-low-density lipoprotein levels UMLS:C4021729 human_phenotype owl:Class HP:0010980 biolink:NamedThing Hyperlipoproteinemia An abnormal increase in the level of lipoprotein cholesterol in the blood. hp0009lx5z peter 2011-02-07T10:56:30Z UMLS:C0020476|MSH:D006951|SNOMEDCT_US:3744001 human_phenotype owl:Class HP:0000775 biolink:NamedThing Abnormality of the diaphragm Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. hp0009lx5z Diaphragmatic defect|Diaphragm issues|Abnormality of the diaphragm HP:0005204 UMLS:C1848873 human_phenotype owl:Class HP:0025357 biolink:NamedThing Erratic myoclonus A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous. hp0009lx5z Fragmentary myoclonus 2017-02-17 12:01:58+00:00 Erratic may appear immediately after birth.Definition adapted from The Epilepsies: Seizures, Syndromes and Management; Chapter 5: Neonatal Seizures and Neonatal Syndromes; NCBI Book NBK2599. HPO:probinson owl:Class HP:0031853 biolink:NamedThing Isomerism Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other. hp0009lx5z 2018-05-05 18:12:17+00:00 The word isomerism is also derived from the Greek: iso-meaning equal and meros-meaning part. Isomerism refers to structures that are themselves mirror-imaged. When used in the area of the congenitally malformed heart, the term isomerism has become the conventional description for the situation in which morphologically right structures or morphologically left structures are found on both sides of the body in the same individual. peter owl:Class HP:0033650 biolink:NamedThing Pulmonary parenchymal band A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos. hp0009lx5z 2021-02-24 12:54:55+00:00 See Figure 48 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0012804 biolink:NamedThing Corneal ulceration Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. hp0009lx5z Corneal ulcerations|Corneal ulcer hecht 2014-05-25T03:25:51Z MSH:D003320|UMLS:C0010043|SNOMEDCT_US:91514001 human_phenotype owl:Class HP:0011495 biolink:NamedThing Abnormal corneal epithelium morphology Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. hp0009lx5z Abnormality of corneal epithelium peter 2012-04-03T07:10:49Z UMLS:C4023326 human_phenotype owl:Class HP:0000938 biolink:NamedThing Osteopenia Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. hp0009lx5z Generalised osteopenia|Generalized osteopenia HP:0002768|HP:0002800|HP:0002799 SNOMEDCT_US:78441005|UMLS:C0029453|UMLS:C0747078|SNOMEDCT_US:312894000|MSH:D001851 human_phenotype owl:Class HP:0011766 biolink:NamedThing Abnormality of the parathyroid morphology A structural abnormality of the parathyroid gland. hp0009lx5z peter 2012-04-22T04:08:26Z UMLS:C4023199 human_phenotype owl:Class HP:0100771 biolink:NamedThing Hypoperistalsis Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. hp0009lx5z Intestinal hypoperistalsis doelkens 2011-06-07T11:53:08Z UMLS:C0232475|SNOMEDCT_US:77853002|UMLS:C4020700 human_phenotype owl:Class HP:0031926 biolink:NamedThing Homer Wright rosette A type of rosette in which the central lumen or hub is filled with fiber-like processes. hp0009lx5z 2018-07-04 13:24:50+00:00 The delicate fibrillary material found within the central lumen of the Homer Wright rosette is composed of neuropil, which contains primitive neuronal processes or neurites. The typical Homer Wright rosette with its central lumen or hub filled with fiber-like processes can also be found in medulloblastomas and histologically similar tumors occurring outside of the cerebellum, designated PNETs. peter owl:Class HP:0025244 biolink:NamedThing Subretinal pigment epithelium hemorrhage An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane. hp0009lx5z Subretinal pigment epithelium haemorrhage 2016-12-17 01:39:54+00:00 HPO:probinson owl:Class HP:0100523 biolink:NamedThing Liver abscess The presence of an abscess of the liver. hp0009lx5z Liver abscess|Hepatic abscess doelkens 2010-12-20T11:13:14Z HP:0001400 UMLS:C0023885|MSH:D008100|SNOMEDCT_US:27916005 owl:Class HP:0000086 biolink:NamedThing Ectopic kidney A developmental defect in which a kidney is located in an abnormal anatomic position. hp0009lx5z Ectopic kidneys|Renal ectopia|Abnormal kidney location|Displaced kidney UMLS:C0238207|SNOMEDCT_US:16507009 human_phenotype owl:Class HP:0100542 biolink:NamedThing Abnormal localization of kidney An abnormal site of the kidney. hp0009lx5z Abnormal localisation of kidneys doelkens 2010-12-20T06:43:50Z UMLS:C4020968 human_phenotype owl:Class HP:0030360 biolink:NamedThing Large cell lung carcinoma A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin. hp0009lx5z UMLS:C0345958|SNOMEDCT_US:254629004 owl:Class HP:0030358 biolink:NamedThing Non-small cell lung carcinoma hp0009lx5z Non-small cell lung cancer MSH:D002289|SNOMEDCT_US:254637007|UMLS:C0007131 owl:Class HP:0200066 biolink:NamedThing Ribbonlike corneal degeneration hp0009lx5z sebastiankohler 2013-05-31T01:31:04Z UMLS:C4021894 human_phenotype owl:Class HP:0007705 biolink:NamedThing Corneal degeneration hp0009lx5z SNOMEDCT_US:111521006|UMLS:C0155118 human_phenotype owl:Class HP:0031924 biolink:NamedThing Rope sign The presence of linear erythematous palpable cords, often on the lateral trunk. hp0009lx5z 2018-07-04 12:31:32+00:00 Its associations include connective tissue disease (particularly SLE), rheumatoid arthritis, autoimmune thyroiditis, carcinomas and drug reactions. Histology reveals an interstitial and palisading granulomatous dermatitis associated with piecemeal fragmentation of collagen and elastic fibres peter owl:Class HP:0033652 biolink:NamedThing Broncholith A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis hp0009lx5z 2021-02-24 12:58:44+00:00 See Figure 15 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0004964 biolink:NamedThing Pulmonary arterial medial hypertrophy Increase in mass of the tunica media of the arteries in the pulmonary circulation. hp0009lx5z Hypertrophy of the pulmonary artery wall HP:0004939 UMLS:C1504382 human_phenotype owl:Class HP:0006870 biolink:NamedThing Lobar holoprosencephaly A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. hp0009lx5z SNOMEDCT_US:253136007|MSH:D016142|UMLS:C0431362 human_phenotype owl:Class HP:0001360 biolink:NamedThing Holoprosencephaly Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. hp0009lx5z Single brain ventricle The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. HP:0009807 SNOMEDCT_US:30915001|Fyler:4338|UMLS:C0079541|MSH:D016142 human_phenotype owl:Class HP:0001045 biolink:NamedThing Vitiligo hp0009lx5z Blotchy loss of skin color|Blotchy loss of skin colour MSH:D014820|SNOMEDCT_US:56727007|UMLS:C0042900 human_phenotype owl:Class HP:0002661 biolink:NamedThing Painless fractures due to injury An increased tendency to fractures following trauma, with fractures occurring without pain. hp0009lx5z Painless fractures due to injury UMLS:C1837602 human_phenotype owl:Class HP:0012000 biolink:NamedThing EEG with generalized spikes EEG with generalized sharp transient waves of a duration less than 80 msec. hp0009lx5z EEG with generalised spikes hecht 2012-07-20T11:39:52Z UMLS:C2206531 human_phenotype owl:Class HP:0011198 biolink:NamedThing EEG with generalized epileptiform discharges EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. hp0009lx5z EEG with generalised epileptiform discharges Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. hecht 2011-11-19T11:15:46Z HP:0010842 UMLS:C4023476 human_phenotype owl:Class HP:0032883 biolink:NamedThing Focal aware cognitive seizure with deja vu/jamais vu A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0006934 biolink:NamedThing Congenital nystagmus Nystagmus dating from or present at birth. hp0009lx5z Nystagmus, congenital SNOMEDCT_US:64635004|MSH:D020417|UMLS:C0700501 human_phenotype owl:Class HP:0009943 biolink:NamedThing Complete duplication of thumb phalanx A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. hp0009lx5z Digitalization of thumbs|Complete duplication of the phalanges of the thumb|Complete duplication of thumb bones|Digitalization of thumb doelkens 2009-05-15T12:51:35Z HP:0002801|HP:0004067 UMLS:C3554724 human_phenotype owl:Class HP:0031774 biolink:NamedThing Posterior communicating artery infundibulum A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery. hp0009lx5z 2018-01-27 11:28:34+00:00 PCOM infundibula are often considered as normal anatomical variants devoid of pathogenic significance, but have been noted to progress to aneurysms in some cases. peter owl:Class HP:0031772 biolink:NamedThing Abnormal posterior circulating artery morphology Any structural anomaly of the posterior circulating artery (PCOM). hp0009lx5z 2018-01-27 11:25:13+00:00 The posterior circulating artery (PCOM) forms the posterior portion of the circle of Willis, connecting the interior carotid artery (proximal to its bifurcation into the anterior cerebral artery and the middle cerebral artery) with the posterior cerebral artery. peter owl:Class HP:0010447 biolink:NamedThing Anal fistula An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. hp0009lx5z Fistula in ano peter 2009-09-14T10:16:39Z SNOMEDCT_US:72779005|MEDDRA:10002156|UMLS:C0205929|MSH:D012003 owl:Class HP:0011665 biolink:NamedThing Takotsubo cardiomyopathy Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation. hp0009lx5z Broken-heart syndrome peter 2012-04-09T11:39:40Z MSH:D054549|SNOMEDCT_US:441541008|UMLS:C1739395 human_phenotype owl:Class HP:0001638 biolink:NamedThing Cardiomyopathy A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. hp0009lx5z Disease of the heart muscle Fyler:1840|UMLS:C0878544|MSH:D009202|SNOMEDCT_US:85898001|SNOMEDCT_US:57809008 human_phenotype owl:Class HP:0030826 biolink:NamedThing Eyelid fasciculation Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. hp0009lx5z Muscle twitches in eyelid|Twitching around eyes|Fasciculation of the eyelid|Eyelid fluttering|Muscle twitches in eye lid UMLS:C4280682 owl:Class HP:0008653 biolink:NamedThing Crescentic glomerulonephritis A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. hp0009lx5z UMLS:C0403416|SNOMEDCT_US:236398000 human_phenotype owl:Class HP:0004818 biolink:NamedThing Paroxysmal nocturnal hemoglobinuria hp0009lx5z Paroxysmal nocturnal haemoglobinuria MSH:D006457|UMLS:C0024790|SNOMEDCT_US:1963002 human_phenotype owl:Class HP:0003641 biolink:NamedThing Hemoglobinuria The presence of free hemoglobin in the urine. hp0009lx5z Haemoglobin in urine|Hemoglobin in urine If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine. UMLS:C0019048|SNOMEDCT_US:68600005|MSH:D006456 human_phenotype owl:Class HP:0030735 biolink:NamedThing Ureterovesical junction obstruction Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle. hp0009lx5z UMLS:C2609249 owl:Class HP:0006000 biolink:NamedThing Ureteral obstruction Obstruction of the flow of urine through the ureter. hp0009lx5z Fyler:4492|MSH:D014517|UMLS:C0041956|SNOMEDCT_US:20018005 human_phenotype owl:Class HP:0031007 biolink:NamedThing Orofacial action-specific dystonia induced by speech hp0009lx5z Jaw dystonia induced by speaking 2017-05-13 21:07:23+00:00 peter owl:Class HP:0012179 biolink:NamedThing Craniofacial dystonia A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. hp0009lx5z Abnormal craniofacial posture|Abnormal facial muscle tone|Distorted craniofacial posture|Facial Dystonia|Abnormal craniofacial muscle tone peter 2013-02-23T10:10:32Z UMLS:C4023011|UMLS:C1851915|UMLS:C4072883 human_phenotype owl:Class HP:0005039 biolink:NamedThing Multiple long-bone exostoses Multiple exostoses originating in long bones. hp0009lx5z Multiple exostoses of long tubular bones UMLS:C1835583 human_phenotype owl:Class HP:0002986 biolink:NamedThing Radial bowing A bending or abnormal curvature of the radius. hp0009lx5z Bowing of outer large bone of the forearm|Bowed radius|Bowed radii|Bowing of radius bone of the forearm HP:0004996 UMLS:C1859399 human_phenotype owl:Class HP:0032882 biolink:NamedThing Focal impaired awareness cognitive seizure with deja vu/jamais vu A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0004019 biolink:NamedThing Radial metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis of the radius. hp0009lx5z Irregular radial metaphysis UMLS:C4021692 human_phenotype owl:Class HP:0032798 biolink:NamedThing Focal impaired awareness cognitive seizure with neglect A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0033639 biolink:NamedThing Septic pulmonary embolism Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations. hp0009lx5z Septic pulmonary emboli 2021-02-03 13:30:30+00:00 peter owl:Class HP:0006980 biolink:NamedThing Progressive leukoencephalopathy Leukoencephalopathy that gets more severe with time. hp0009lx5z Leukoencephalopathy, progressive UMLS:C1855010 human_phenotype owl:Class HP:0009778 biolink:NamedThing Short thumb Hypoplasia (congenital reduction in size) of the thumb. hp0009lx5z Short thumb|Small thumbs|Short thumbs|Hypoplastic/small thumb|Hypoplastic thumbs|Thumb brachydactyly|Thumb hypoplasia|Hypoplastic thumb doelkens 2009-02-02T05:46:42Z HP:0001183|HP:0005699|HP:0006151|HP:0001589|HP:0001186|HP:0009628 UMLS:C0431890|SNOMEDCT_US:253936008|MSH:C536903 human_phenotype owl:Class HP:0011053 biolink:NamedThing Agenesis of mandibular premolar Agenesis of mandibular premolar. hp0009lx5z Absence of lower premolar|Missing lower premolar|Absence of mandibular premolar|Failure of development of mandibular premolar|Missing mandibular premolar peter 2011-03-10T11:40:37Z UMLS:C4280349|UMLS:C4023564 human_phenotype owl:Class HP:0031813 biolink:NamedThing Colonic eosinophilia An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon. hp0009lx5z Eosinophilic colitis|Eosinophilic infiltration in the colon 2018-04-28 21:07:47+00:00 peter owl:Class HP:0031327 biolink:NamedThing Transthyretin cardiac amyloidosis A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining. hp0009lx5z TTR cardiac amyloidosis 2017-08-27 12:29:13+00:00 peter owl:Class HP:0032773 biolink:NamedThing Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature. hp0009lx5z Includes seizure characterized predominantly by chronotropic features such as bradycardia, tachycardia and asystole as the initial semiological feature. peter owl:Class HP:0033657 biolink:NamedThing Linear atelectasis Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm. hp0009lx5z Discoid atelectasis|Platelike atelectasis 2021-02-24 13:50:10+00:00 See Figure 33 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0100750 biolink:NamedThing Atelectasis Collapse of part of a lung associated with absence of inflation (air) of that part. hp0009lx5z Pulmonary atelectasis|Partial or complete collapse of part or entire lung doelkens 2011-06-06T06:38:53Z SNOMEDCT_US:46621007|MSH:D001261|UMLS:C0004144 owl:Class HP:0006483 biolink:NamedThing Abnormal number of teeth The presence of an altered number of of teeth. hp0009lx5z Abnormal complement of teeth|Abnormal tooth count|Abnormal number of teeth Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth. peter 2008-03-28T05:44:00Z UMLS:C1290508|SNOMEDCT_US:335443002 human_phenotype owl:Class HP:0009322 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 3rd finger An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the middle bone of the middle finger doelkens 2009-01-12T11:15:44Z UMLS:C4024443 human_phenotype owl:Class HP:0010258 biolink:NamedThing Bracket epiphyses of the middle phalanges of the hand An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the middle hand bones doelkens 2009-07-06T04:24:15Z UMLS:C4023942 human_phenotype owl:Class HP:0033237 biolink:NamedThing Visceral epithelial cell detachment Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. hp0009lx5z Podocyte detachment|Detachment of visceral epithelial cells 2020-11-01 12:37:49+00:00 Separation from GBM without intervening immune deposits. See Figure 5d of PMID:32866505. peter owl:Class HP:0032070 biolink:NamedThing Leptomeningeal enhancement Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis. hp0009lx5z 2018-09-30 15:02:42+00:00 Contrast material enhancement for cross-sectional imaging in computed tomography and magnetic resonance imaging can be related to intravascular (vascular) enhancement and interstitial (extravascular) enhancement. peter owl:Class HP:0030858 biolink:NamedThing Addictive behavior A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains. hp0009lx5z Addictive behaviour Several behaviors, besides psychoactive substance ingestion, produce short-term reward that may engender persistent behavior despite knowledge of adverse consequences, i.e., diminished control over the behavior. UMLS:C0085281|SNOMEDCT_US:32709003|MSH:D016739 owl:Class HP:0033446 biolink:NamedThing Elevated circulating butyrylcarnitine concentration Increased concentration of O-butyrylcarnitine in the blood circulation. hp0009lx5z Elevated circulating O-butyrylcarnitine concentration 2021-01-09 18:58:55+00:00 peter owl:Class HP:0030961 biolink:NamedThing Microspherophakia Lens of the eye is smaller than normal and spherically shaped. hp0009lx5z 2017-04-18 12:55:01+00:00 robinp owl:Class HP:0100177 biolink:NamedThing Small epiphysis of the distal phalanx of the 4th toe hp0009lx5z Small end part of the outermost bone of the 4th toe doelkens 2010-06-24T04:53:36Z UMLS:C4022244 human_phenotype owl:Class HP:0100074 biolink:NamedThing Small epiphyses of the 4th toe hp0009lx5z Small end part of the 4th toe bone doelkens 2010-06-24T09:59:30Z UMLS:C4022347 human_phenotype owl:Class HP:0004223 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 5th finger Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the outermost pinky finger bone|Increased bone density of end part of the outermost little finger bone|Increased bone density of end part of the outermost pinkie finger bone|Ivory epiphysis of the terminal phalanx of the little finger|Ivory epiphysis of the distal phalanx of the little finger HP:0004229 UMLS:C4021674 human_phenotype owl:Class HP:0031223 biolink:NamedThing Focal pancreatic islet hyperplasia Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others. hp0009lx5z 2017-07-02 12:06:09+00:00 peter owl:Class HP:0040159 biolink:NamedThing Abnormal spaced incisors hp0009lx5z Abnormal spaced incisors|Abnormality of spacing of front teeth|Abnormality of spacing of incisors HPO:skoehler UMLS:C4022410 owl:Class HP:0011062 biolink:NamedThing Misalignment of incisors Misaligned incisor. hp0009lx5z Crooked front teeth|Crooked incisors|Misalignment of incisors|Malposition of incisors|Abnormality of alignment of incisors|Abnormality of position of incisors peter 2011-03-10T01:57:43Z UMLS:C4023556|UMLS:C4280343 human_phenotype owl:Class HP:0031789 biolink:NamedThing Against the rule astigmatism Astigmatism with more plus power on the horizontal meridian. hp0009lx5z 2018-01-28 13:36:27+00:00 peter owl:Class HP:0009282 biolink:NamedThing Abnormality of the distal phalanx of the 4th finger hp0009lx5z Abnormality of the outermost bone of ring finger doelkens 2009-01-07T04:42:40Z UMLS:C4024471 human_phenotype owl:Class HP:0430010 biolink:NamedThing Microblepharia Abnormal shortness of the vertical dimensions of the eyelids. hp0009lx5z Abnormally small eyelid SNOMEDCT_US:94684003|UMLS:C0685873 owl:Class HP:0040113 biolink:NamedThing Old-aged sensorineural hearing impairment hp0009lx5z Presbycusis HPO:skoehler SNOMEDCT_US:49526009|MSH:D011304|UMLS:C0033074 owl:Class HP:0032034 biolink:NamedThing Upper eyelid laxity Abnormally lax upper eyelid associated with tissue relaxation. hp0009lx5z 2018-09-01 14:52:53+00:00 peter owl:Class HP:0031880 biolink:NamedThing Eyelid laxity Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test. hp0009lx5z Lid laxity 2018-05-06 15:42:01+00:00 peter owl:Class HP:0031213 biolink:NamedThing Elevated circulating 17-hydroxyprogesterone An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. hp0009lx5z Elevated circulating 17-OHP 2017-07-02 11:21:36+00:00 An inherited deficiency of 21-hydroxylase leads to greatly increased serum concentrations of 17-hydroxyprogesterone (17-OHP), while the absence of cortisol synthesis causes an increase in adrenocorticotrophic hormone. Moderately increased levels of 17-OHP may indicate an 11-beta-hydroxylase deficiency. peter owl:Class HP:0031212 biolink:NamedThing Abnormal circulating progesterone level hp0009lx5z 2017-07-02 11:20:51+00:00 peter owl:Class HP:0031456 biolink:NamedThing Ectopic pregnancy A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube). hp0009lx5z 2017-09-17 15:55:36+00:00 peter owl:Class HP:0008461 biolink:NamedThing Cervical vertebral facet hypoplasia hp0009lx5z UMLS:C4024673 human_phenotype owl:Class HP:0011041 biolink:NamedThing Aplasia/Hypoplasia of the cervical spine Aplasia or developmental hypoplasia of the cervical vertebral column. hp0009lx5z Absent/underdeveloped cervical spine|Absent/small cervical spine peter 2011-03-09T08:29:34Z UMLS:C4023576 human_phenotype owl:Class HP:0033111 biolink:NamedThing 3-hydroxyisovaleric aciduria Concentration of 3-hydroxyisovaleric acid in the urine above the normal range. hp0009lx5z Increased urine 3-hydroxyisovaleric acid level 2020-08-29 12:10:59+00:00 peter owl:Class HP:0001992 biolink:NamedThing Organic aciduria Excretion of non-amino organic acids in urine. hp0009lx5z UMLS:C0241775 owl:Class HP:0000246 biolink:NamedThing Sinusitis Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. hp0009lx5z Sinus infection|Sinus disease|Sinus inflammation MSH:D010254|MSH:D012852|UMLS:C0037199|UMLS:C0030469|SNOMEDCT_US:36971009|SNOMEDCT_US:7393007 human_phenotype owl:Class HP:0012200 biolink:NamedThing Abnormality of prothrombin An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. hp0009lx5z peter 2013-03-12T11:48:06Z UMLS:C4023005 human_phenotype owl:Class HP:0100624 biolink:NamedThing Corpus cavernosum sclerosis hp0009lx5z doelkens 2010-12-28T12:47:33Z UMLS:C4022008 human_phenotype owl:Class HP:0100623 biolink:NamedThing Abnormality of corpus cavernosum hp0009lx5z doelkens 2010-12-28T12:47:15Z UMLS:C4022009 owl:Class HP:0007763 biolink:NamedThing Retinal telangiectasia Dilatation of small blood vessels of the retina. hp0009lx5z SNOMEDCT_US:84884003|UMLS:C0154835 human_phenotype owl:Class HP:0009518 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 2nd finger hp0009lx5z Irregular end part of the middle long bone of the index finger doelkens 2009-01-16T01:12:17Z UMLS:C4024315 human_phenotype owl:Class HP:0002862 biolink:NamedThing Bladder carcinoma The presence of a carcinoma of the urinary bladder. hp0009lx5z UMLS:C0699885|SNOMEDCT_US:255108000|NCIT:C2916 human_phenotype owl:Class HP:0009725 biolink:NamedThing Bladder neoplasm The presence of a neoplasm of the urinary bladder. hp0009lx5z Bladder tumour|Bladder tumor|Bladder cancer peter 2009-01-31T10:43:55Z UMLS:C0005695|MSH:D001749|NCIT:C3262|SNOMEDCT_US:126885006 human_phenotype owl:Class HP:0009257 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 4th finger A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-01-07T12:07:34Z UMLS:C4024490 human_phenotype owl:Class HP:0031315 biolink:NamedThing External carotid artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery. hp0009lx5z 2017-08-26 21:53:48+00:00 peter owl:Class HP:0031314 biolink:NamedThing Carotid artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery. hp0009lx5z 2017-08-26 21:52:52+00:00 peter owl:Class HP:0033438 biolink:NamedThing Elevated circulating myoglobin concentration An increased blood concentration of myoglobin. hp0009lx5z 2021-01-09 18:30:13+00:00 peter owl:Class HP:0002361 biolink:NamedThing Psychomotor deterioration Loss of previously present mental and motor abilities. hp0009lx5z Psychomotor degeneration UMLS:C1836842 owl:Class HP:0012001 biolink:NamedThing EEG with generalized polyspikes EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. hp0009lx5z EEG with generalised polyspikes hecht 2012-07-20T11:41:07Z UMLS:C4023088 human_phenotype owl:Class HP:0032844 biolink:NamedThing Focal impaired awareness epileptic spasm A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0009919 biolink:NamedThing Retinoblastoma A tumor of the eye originating from cells of the retina. hp0009lx5z Retina tumor|Retina tumour peter 2009-05-02T06:23:25Z MSH:D012175|SNOMEDCT_US:127002001|UMLS:C0524801|MSH:D019572|NCIT:C7541|UMLS:C0035335|SNOMEDCT_US:19906005|SNOMEDCT_US:370967009 human_phenotype owl:Class HP:0031069 biolink:NamedThing Abnormal femoral torsion Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range. hp0009lx5z 2017-05-28 22:59:20+00:00 peter owl:Class HP:0002330 biolink:NamedThing Paroxysmal drowsiness Attacks of disabling daytime drowsiness and low alertness. hp0009lx5z UMLS:C4025713 human_phenotype owl:Class HP:0002329 biolink:NamedThing Drowsiness Excessive daytime sleepiness. hp0009lx5z Sleepy|Drowsiness SNOMEDCT_US:271782001|UMLS:C0013144|SNOMEDCT_US:79519003|MSH:D012894 human_phenotype owl:Class HP:0041166 biolink:NamedThing Fractured vertebra A partial or complete breakage of the vertebra. hp0009lx5z bone vertebra owl:Class HP:0010639 biolink:NamedThing Elevated alkaline phosphatase of bone origin An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. hp0009lx5z Increased serum bone-specific alkaline phosphatase|Elevated alkaline phosphatase of bone origin|Elevated ALP of bone origin Bone alkaline phosphatase (BALP) is encoded by the tissue non-specific form of alkaline phosphatase and thus is an isoform of this isoenzyme. doelkens 2009-12-11T03:47:19Z HP:0008266 UMLS:C1833667 owl:Class HP:0006298 biolink:NamedThing Prolonged bleeding after dental extraction Prolonged bleeding post dental extraction sufficient to require medical intervention. hp0009lx5z Prolonged bleeding after dental extraction UMLS:C1969572 human_phenotype owl:Class HP:0025042 biolink:NamedThing Abnormality of mesenteric lymph nodes A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery. hp0009lx5z 2016-09-25 14:21:49+00:00 HPO:probinson owl:Class HP:0011174 biolink:NamedThing Focal hyperkinetic seizure A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. hp0009lx5z Partial hyperkinetic seizure|Segmental hyperkinetic seizure|Hyperkinetic seizures|Localised hyperkinetic seizure|Localized hyperkinetic seizure The 2017 ILAE classification arbitrarily groups pedaling activity with hyperkinetic seizures, rather than with automatism seizures. However, some automatisms overlap other motor behaviors and where pedaling is slow and coordinated it may be considered an automatism. hecht 2011-11-19T10:13:17Z UMLS:C4023497 human_phenotype owl:Class HP:0025360 biolink:NamedThing Polycalycosis Increased number of calices of the kidney. hp0009lx5z 2017-02-17 12:17:58+00:00 HPO:probinson owl:Class HP:0011130 biolink:NamedThing Abnormal renal calyx morphology Any abnormality of the morphology of the major calices or minor calices of the kidney. hp0009lx5z Abnormality of renal calyx morphology peter 2011-06-19T10:06:45Z UMLS:C4023522 human_phenotype owl:Class HP:0012165 biolink:NamedThing Oligodactyly A developmental defect resulting in the presence of fewer than the normal number of digits. hp0009lx5z peter 2013-02-16T10:44:40Z UMLS:C3887496 human_phenotype owl:Class HP:0010790 biolink:NamedThing Hyoplasia of the Leydig cells Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. hp0009lx5z sdoelken 2010-05-04T09:51:03Z UMLS:C4023702 human_phenotype owl:Class HP:0010789 biolink:NamedThing Abnormality of the Leydig cells hp0009lx5z sdoelken 2010-05-04T09:50:45Z UMLS:C4023703 human_phenotype owl:Class HP:0002423 biolink:NamedThing Long-tract signs hp0009lx5z Long tract signs Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. UMLS:C1865903 human_phenotype owl:Class HP:0045017 biolink:NamedThing Congenital malformation of the left heart Defect or defects of the morphogenesis of the left heart identifiable at birth. hp0009lx5z HPO:skoehler UMLS:C4022397 owl:Class HP:0040205 biolink:NamedThing Decreased CSF neopterin level Decreased concentration of neopterin in the cerebrospinal fluid (CSF). hp0009lx5z PhenoTips:CHum UMLS:C4073153 owl:Class HP:0040143 biolink:NamedThing Dystopic os odontoideum Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus hp0009lx5z HPO:skoehler UMLS:C3552843 owl:Class HP:0005667 biolink:NamedThing Os odontoideum Separation of the odontoid process from the body of the axis. hp0009lx5z With os odontoideum, the caudal fragment of the odontoid process may provide deficient stability for the atlantoaxial joint and lead to subsequent instability or dislocation and neurological deficits. UMLS:C2919848|SNOMEDCT_US:445242006 human_phenotype owl:Class HP:0000867 biolink:NamedThing Secondary hyperparathyroidism Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia. hp0009lx5z Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism. UMLS:C0020503|SNOMEDCT_US:91478007|MSH:D006962 human_phenotype owl:Class HP:0033838 biolink:NamedThing Dysphoria A state of feeling very unhappy, uneasy, or dissatisfied. hp0009lx5z 2021-05-21 17:48:02+00:00 peter owl:Class HP:0009115 biolink:NamedThing Aplasia/hypoplasia involving the skeleton Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. hp0009lx5z Absent/small skeleton|Absent/underdeveloped skeleton peter 2008-04-05T10:53:00Z UMLS:C4024592 human_phenotype owl:Class HP:0012125 biolink:NamedThing Prostate cancer A cancer of the prostate. hp0009lx5z Prostatic cancer hecht 2012-09-16T06:33:32Z MSH:D011471|SNOMEDCT_US:399068003|UMLS:C0376358 human_phenotype owl:Class HP:0100787 biolink:NamedThing Prostate neoplasm hp0009lx5z doelkens 2011-06-07T06:29:49Z UMLS:C0033578|SNOMEDCT_US:126906006|MSH:D011471 human_phenotype owl:Class HP:0100577 biolink:NamedThing Urinary bladder inflammation Inflammation of the urinary bladder. hp0009lx5z Urinary bladder inflammation|Cystitis of the urinary bladder doelkens 2010-12-27T12:49:16Z SNOMEDCT_US:38822007|UMLS:C0010692|MSH:D003556 human_phenotype owl:Class HP:0007289 biolink:NamedThing Limb fasciculations Fasciculations affecting the musculature of the arms and legs. hp0009lx5z Limb fasciculation HP:0007049 UMLS:C1854657 human_phenotype owl:Class HP:0010546 biolink:NamedThing Muscle fibrillation Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. hp0009lx5z Twitching peter 2009-09-29T08:23:48Z SNOMEDCT_US:41405005|UMLS:C0231531 human_phenotype owl:Class HP:0100224 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 5th toe hp0009lx5z Absent end part of the innermost bone of the little toe|Absent end part of the innermost bone of the pinkie toe|Absent end part of the innermost bone of the pinky toe doelkens 2010-06-24T05:04:53Z UMLS:C4022197 human_phenotype owl:Class HP:0100077 biolink:NamedThing Absent epiphyses of the 5th toe hp0009lx5z Absent end part of the pinky toe bone|Absent end part of the little toe bone|Absent end part of the pinkie toe bone doelkens 2010-06-24T10:00:02Z UMLS:C4022344 human_phenotype owl:Class HP:0410271 biolink:NamedThing Laryngeal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions. hp0009lx5z Throat hemangioma 2018-10-30 02:15:03+00:00 owl:Class HP:0031542 biolink:NamedThing Myelin-like whorls in vacuolated fibers Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner. hp0009lx5z Myelin-like whorls in vacuolated fibres 2017-09-24 01:38:55+00:00 peter owl:Class HP:0009200 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 5th finger A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-01-05T05:10:13Z UMLS:C4024540 human_phenotype owl:Class HP:0030242 biolink:NamedThing Portal vein thrombosis Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins. hp0009lx5z Blood clot in portal vein Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion. SNOMEDCT_US:17920008|UMLS:C0155773 owl:Class HP:4000034 biolink:NamedThing Infection-ssociated lymphopenia Decreased lymphocyte count during infections. hp0009lx5z Infection-ssociated lymphocytopenia 2021-05-02 15:19:12+00:00 robinp owl:Class HP:0040088 biolink:NamedThing Abnormal lymphocyte count Any abnormality in the total number of lymphocytes in the blood. hp0009lx5z Abnormality of lymphocyte number|Abnormal number of lymphocytes|Abnormal lymphocyte count|Abnormal numbers of lymphocytes|Abnormal lymphocyte counts HPO:skoehler SNOMEDCT_US:165534000|UMLS:C0580550 owl:Class HP:0009308 biolink:NamedThing Symphalangism of middle phalanx of 4th finger Fusion of the middle phalanx of the 4th finger with another bone. hp0009lx5z Fused middle bone of ring finger doelkens 2009-01-08T04:59:22Z UMLS:C4024453 human_phenotype owl:Class HP:0007975 biolink:NamedThing Hypometric horizontal saccades Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. hp0009lx5z UMLS:C1856478 human_phenotype owl:Class HP:0000571 biolink:NamedThing Hypometric saccades Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. hp0009lx5z SNOMEDCT_US:246768008|UMLS:C0423082 human_phenotype owl:Class HP:0010393 biolink:NamedThing Abnormality of the middle phalanx of the 5th toe hp0009lx5z Abnormality of the middle bone of the pinkie toe|Abnormality of the middle bone of the pinky toe|Abnormality of the middle bone of the little toe doelkens 2009-07-16T11:52:18Z UMLS:C4023861 human_phenotype owl:Class HP:0033209 biolink:NamedThing Acinar dysplasia Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli. hp0009lx5z 2020-10-12 11:21:18+00:00 peter owl:Class HP:0200109 biolink:NamedThing Absent/shortened outer dynein arms hp0009lx5z Respiratory cilia have shortened or absent outer dynein arms sebastiankohler 2013-06-05T12:17:14Z UMLS:C2750161 human_phenotype owl:Class HP:0200106 biolink:NamedThing Absent/shortened dynein arms hp0009lx5z sebastiankohler 2013-06-05T12:14:18Z UMLS:C4021891 human_phenotype owl:Class HP:0000756 biolink:NamedThing Agoraphobia A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather. hp0009lx5z Fear of open spaces SNOMEDCT_US:70691001|MSH:D000379|UMLS:C0001818|SNOMEDCT_US:247830007 human_phenotype owl:Class HP:0004923 biolink:NamedThing Hyperphenylalaninemia An increased concentration of L-phenylalanine in the blood. hp0009lx5z SNOMEDCT_US:68528007|MSH:D010661|UMLS:C0751435 human_phenotype owl:Class HP:0012490 biolink:NamedThing Panniculitis Inflammation of adipose tissue. hp0009lx5z Inflammation of fat tissue|Inflammation of adipose tissue Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules. peter 2013-11-29T09:28:11Z MSH:D015434|SNOMEDCT_US:22125009|UMLS:C0030326 human_phenotype owl:Class HP:0000003 biolink:NamedThing Multicystic kidney dysplasia Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. hp0009lx5z Multicystic kidneys|Multicystic dysplastic kidney|Multicystic renal dysplasia Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. HP:0004715 UMLS:C3714581|MSH:D021782|SNOMEDCT_US:82525005|SNOMEDCT_US:204962002 human_phenotype owl:Class HP:0033940 biolink:NamedThing Renal arteriole intima/media coagulative necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. hp0009lx5z 2021-06-24 01:45:29+00:00 peter owl:Class HP:0033938 biolink:NamedThing Renal arteriole intima/media necrosis Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. hp0009lx5z 2021-06-24 01:43:41+00:00 peter owl:Class HP:0006175 biolink:NamedThing Proximal phalangeal periosteal thickening hp0009lx5z Thickening of connective tissue of innermost finger bone UMLS:C1834348|UMLS:C4280463 human_phenotype owl:Class HP:0012833 biolink:NamedThing Unilateral Being present on only the left or only the right side of the body. hp0009lx5z peter 2014-06-06T07:21:12Z UMLS:C0205092|SNOMEDCT_US:66459002 human_phenotype owl:Class HP:0011562 biolink:NamedThing Straddling atrioventricular valve Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect. hp0009lx5z Straddling and overriding atrioventricular valves usually occur in combination. peter 2012-04-07T12:13:57Z UMLS:C4023297 human_phenotype owl:Class HP:0000194 biolink:NamedThing Open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth. hp0009lx5z Slack jawed appearance|Gaped mouthed appearance|Open mouth|Gaped jawed appearance|Open mouth appearance UMLS:C0240379|SNOMEDCT_US:262016004 human_phenotype owl:Class HP:0031855 biolink:NamedThing Right isomerism A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures. hp0009lx5z Right-sided isomerism 2018-05-05 18:15:09+00:00 peter owl:Class HP:0011045 biolink:NamedThing Agenesis of permanent maxillary central incisor Agenesis of upper secondary incisor. hp0009lx5z Missing permanent upper central incisor|Missing permanent upper front tooth|Failure of development of permanent maxillary central incisor|Missing adult upper central incisor|Absence of permanent upper central incisor|Missing permanent maxillary central incisor|Absence of permanent upper front tooth|Agenesis of adult maxillary central incisor|Absence of permanent maxillary central incisor This feature is to be distinguished from single central upper incisor, which is median. peter 2011-03-10T11:20:25Z UMLS:C4280359|UMLS:C4280358|UMLS:C4023572 human_phenotype owl:Class HP:5000008 biolink:NamedThing Anti-FGFR3 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3. hp0009lx5z Anti-fibroblast growth factor receptor 3 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0030539 biolink:NamedThing Unaided visual acuity 0.4 LogMAR hp0009lx5z UMLS:C4073013 owl:Class HP:0002173 biolink:NamedThing Hypoglycemic seizures hp0009lx5z UMLS:C0877056 human_phenotype owl:Class HP:0012814 biolink:NamedThing Bilateral breast hypoplasia Underdevelopment of the breast on both sides. hp0009lx5z Two underdeveloped breasts hecht 2014-05-26T08:12:34Z UMLS:C4022716 human_phenotype owl:Class HP:0003187 biolink:NamedThing Breast hypoplasia Underdevelopment of the breast. hp0009lx5z Underdeveloped breasts HP:0000784 UMLS:C0266013|SNOMEDCT_US:8915006 human_phenotype owl:Class HP:0007334 biolink:NamedThing Bilateral tonic-clonic seizure with focal onset A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. hp0009lx5z 'Generalized' tonic-clonic seizure with focal onset|Partial seizure with secondary generalisation|Generalized tonic-clonic seizures with focal onset|Secondary generalized tonic clonic seizures|Secondarily generalised tonic-clonic seizure|Generalised tonic-clonic seizures with focal onset|Partial seizures with secondary generalization|Secondarily generalized tonic-clonic seizure|Focal seizure with secondary generalisation|Secondary generalised tonic clonic seizures|Secondarily generalised tonic-clonic seizures|'Generalised' tonic-clonic seizure with focal onset|'Generalized' tonic-clonic seizure with partial onset|Focal to bilateral tonic-clonic seizure|Partial seizures with secondary generalisation|'Generalised' tonic-clonic seizure with partial onset|Secondary generalised tonic-clonic seizures|Partial seizure with secondary generalization|Secondary generalized tonic-clonic seizures|Focal seizure with secondary generalization The ILAE 2017 classification refers to this seizure type as a focal to bilateral tonic-clonic seizure. Previously it has been known as a secondarily generalized tonic-clonic seizure. The focal features of the seizure may be clinically manifest or alternatively, the spread in brain networks may be so rapid that no preceding focal symptom or sign is identified with demonstration of the focal onset resting on investigations. Note that not all instances of a Bilateral tonic-clonic seizure with focal onset will be a Focal motor seizure, some will be a Focal non-motor seizure, thus one can only say that there is a Focal-onset. HP:0002602 UMLS:C0877017 human_phenotype owl:Class HP:0009311 biolink:NamedThing Bullet-shaped proximal phalanx of the 4th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected. hp0009lx5z Bullet-shaped innermost ring finger bone doelkens 2009-01-08T05:11:48Z UMLS:C4024451 human_phenotype owl:Class HP:0033026 biolink:NamedThing White oral mucosal macule A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed. hp0009lx5z peter owl:Class HP:0012046 biolink:NamedThing Areflexia of upper limbs Inability to elicit tendon reflexes in the upper limbs. hp0009lx5z peter 2012-08-01T12:24:31Z UMLS:C2674177 owl:Class HP:0100665 biolink:NamedThing Angioedema Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. hp0009lx5z Quincke edema|Angioneurotic oedema|Angiooedema|Quincke oedema Apart from the common form, mediated by allergy, it has been reported as a side effect of some medications, in particular ACE inhibitors. Additionally, there are three autosomal dominant inherited forms known, due to mutations in the genes that control the clotting cascade, including the SERPING1 gene, which results in deficiency of the blood protein C1-inhibitor (type I HAE) and the F12 gene, which controls Factor XII (type III HAE). There is an additional type in which C1 levels are normal but C1 function is decreased (type II HAE). All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE). In all forms of HAE, swelling may also occur in the digestive tract and other organs. It is life-threatening when it involves the larynx due to the potential for asphyxiation. doelkens 2010-12-30T01:09:59Z HP:0100666 MSH:D000799|UMLS:C0002994|SNOMEDCT_US:41291007|SNOMEDCT_US:400075008 owl:Class HP:0010189 biolink:NamedThing Osteolytic defects of the distal phalanges of the toes hp0009lx5z doelkens 2009-05-29T01:52:41Z UMLS:C4023979 human_phenotype owl:Class HP:0009851 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanges of the hand hp0009lx5z Absent/small innermost finger bones of the hand|Absent/underdeveloped innermost finger bones of the hand doelkens 2009-03-11T12:16:33Z UMLS:C4024182 human_phenotype owl:Class HP:0030713 biolink:NamedThing Vein of Galen aneurysmal malformation Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation. hp0009lx5z Vein of Galen malformation|Median prosencephalic arteriovenous fistula|Vein of Galen aneurysm UMLS:C0431420|MSH:C536535|SNOMEDCT_US:253194008 owl:Class HP:0032257 biolink:NamedThing Disseminated histoplasmosis Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS. hp0009lx5z 2019-01-27 18:15:01+00:00 peter owl:Class HP:0032256 biolink:NamedThing Histoplasmosis Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons. hp0009lx5z 2019-01-27 18:10:09+00:00 Most patients exhibit pulmonary signs and symptoms, accompanied by radiographic abnormalities, which often are mistaken for community-acquired pneumonia caused by bacterial or viral agents. Most of the infected individuals remain asymptomatic or have very mild illness that does not get diagnosed as histoplasmosis. Significant symptoms develop in less than 1% of patients and most frequently present as pulmonary or disseminated histoplasmosis. Immunocompromised individuals, including patients with AIDS, hematologic malignancies, transplant recipients, and patients receiving prolonged steroids, are at higher risk of developing acute disseminated disease with a rapid and aggressive course. peter owl:Class HP:0012624 biolink:NamedThing Stage 2 chronic kidney disease A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). hp0009lx5z peter 2014-01-17T01:22:13Z UMLS:C2316786|SNOMEDCT_US:431856006 human_phenotype owl:Class HP:0100146 biolink:NamedThing Absent epiphysis of the middle phalanx of the 3rd toe hp0009lx5z Absent end part of the middle bone of the 3rd toe doelkens 2010-06-24T10:24:13Z UMLS:C4022275 human_phenotype owl:Class HP:0100055 biolink:NamedThing Absent epiphyses of the 3rd toe hp0009lx5z Absent end part of the 3rd toe doelkens 2010-06-24T09:58:55Z UMLS:C4022366 human_phenotype owl:Class HP:0004841 biolink:NamedThing Reduced factor XII activity Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. hp0009lx5z Hageman factor deficiency|Factor XII deficiency HP:0005551|HP:0005514|HP:0008286 SNOMEDCT_US:46981006|MSH:D005175|UMLS:C0015526 human_phenotype owl:Class HP:0045028 biolink:NamedThing Microlissencephaly Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. hp0009lx5z Lissencephaly type III|Type 3 lissencephaly|Type III lissencephaly This is a severe phenotype that can be diagnosed at the fetopathological level, by which a diagnosis of lissencephaly can be made by the examination of the 6 layers of the cortex. Examination may show 3 layers or an extremely thin cortical plate consistent with the diagnosis of lissencephaly. HPO:skoehler UMLS:C4021030 owl:Class HP:0100143 biolink:NamedThing Small epiphysis of the distal phalanx of the 3rd toe hp0009lx5z Small end part of the outermost bone of the 3rd toe doelkens 2010-06-24T10:23:44Z UMLS:C4022278 human_phenotype owl:Class HP:0006988 biolink:NamedThing Alobar holoprosencephaly A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged. hp0009lx5z UMLS:C0431363|MSH:D016142|SNOMEDCT_US:253137003 human_phenotype owl:Class HP:0032668 biolink:NamedThing Myoclonic status epilepticus without coma A type of myoclonic status epilepticus in the absence of coma. hp0009lx5z peter owl:Class HP:0009104 biolink:NamedThing Aplasia/Hypoplasia of the pubic bone Absence or underdevelopment of the pubic bone. hp0009lx5z Hypoplastic/aplastic pubic bones|Absent/underdeveloped pubic bones|Absent/small pubic bones peter 2008-04-04T08:41:00Z HP:0008841 UMLS:C1849305 human_phenotype owl:Class HP:0003172 biolink:NamedThing Abnormality of the pubic bone An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone. hp0009lx5z Abnormality of the pubic bones|Abnormality of the pubis|Abnormality of the pubic bone UMLS:C4021738 human_phenotype owl:Class HP:0006161 biolink:NamedThing Short metacarpals with rounded proximal ends hp0009lx5z Short long bone of hand with rounded innermost ends UMLS:C1856471 human_phenotype owl:Class HP:0003150 biolink:NamedThing Glutaric aciduria An increased concentration of glutaric acid in the urine. hp0009lx5z Glutarate aciduria|Glutaricaciduria|Increased glutarate level in urine HP:0003490 SNOMEDCT_US:28987007|UMLS:C0268594 human_phenotype owl:Class HP:0011375 biolink:NamedThing Cochlear aplasia Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. hp0009lx5z Absent cochlea peter 2012-03-07T08:31:27Z UMLS:C4023390 human_phenotype owl:Class HP:0011395 biolink:NamedThing Aplasia/Hypoplasia of the cochlea Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. hp0009lx5z Absent/underdeveloped cochlea|Absent/small cochlea hecht 2012-03-09T05:37:50Z UMLS:C4023378 human_phenotype owl:Class HP:0010495 biolink:NamedThing Amniotic constriction rings of legs Amniotic constriction rings affecting the legs. hp0009lx5z peter 2009-09-17T11:07:10Z UMLS:C4023804 human_phenotype owl:Class HP:0003240 biolink:NamedThing Increased phosphoribosylpyrophosphate synthetase level Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. hp0009lx5z Increased phosphoribosyl pyrophosphate synthetase activity|Increased PRPS1 activity UMLS:C4025637 human_phenotype owl:Class HP:0010559 biolink:NamedThing Vertical clivus An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). hp0009lx5z peter 2009-10-14T09:39:04Z UMLS:C1844702 human_phenotype owl:Class HP:0010558 biolink:NamedThing Abnormality of the clivus An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. hp0009lx5z peter 2009-10-14T09:37:19Z UMLS:C4023791 human_phenotype owl:Class HP:0041221 biolink:NamedThing Fractured head of femur A partial or complete breakage of the head of femur. hp0009lx5z bone head of femur owl:Class HP:0004854 biolink:NamedThing Intermittent thrombocytopenia Reduced platelet count that occurs sporadically, i.e., it comes and goes. hp0009lx5z UMLS:C1839167 human_phenotype owl:Class HP:0032583 biolink:NamedThing Renal glomerular foam cells hp0009lx5z Accumulation of foam cells (FC) in glomeruli of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. peter owl:Class HP:0100309 biolink:NamedThing Subdural hemorrhage Hemorrhage occurring between the dura mater and the arachnoid mater. hp0009lx5z Subdural hematoma|Subdural haemorrhage|Subdural haematoma Usually resulting from tears in veins that cross the subdural space, subdural hemorrhage may cause an increase in intracranial pressure, which can cause compression of and damage to delicate brain tissue. Subdural hematomas are often life-threatening when acute, but chronic subdural hematomas are usually not deadly if treated. doelkens 2010-08-10T03:01:08Z UMLS:C0018946|SNOMEDCT_US:95453001|SNOMEDCT_US:35486000|MSH:D006408 owl:Class HP:0006599 biolink:NamedThing Medial widening of clavicles hp0009lx5z UMLS:C1866729 human_phenotype owl:Class HP:0003304 biolink:NamedThing Spondylolysis Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma. hp0009lx5z The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis. UMLS:C0038018|SNOMEDCT_US:240221008|MSH:D013169 human_phenotype owl:Class HP:0012592 biolink:NamedThing Albuminuria Increased concentration of albumin in the urine. hp0009lx5z peter 2014-01-16T05:49:16Z MSH:D000419|UMLS:C0001925|SNOMEDCT_US:274769005 human_phenotype owl:Class HP:0032944 biolink:NamedThing Alkaline urine Urine pH of 8 or higher. hp0009lx5z peter owl:Class HP:0006434 biolink:NamedThing Hypoplasia of proximal radius Proximal radial shortening owing to a congenital defect of development. hp0009lx5z Proximal radial shortening HP:0006365 UMLS:C1859477 human_phenotype owl:Class HP:0002984 biolink:NamedThing Hypoplasia of the radius Underdevelopment of the radius. hp0009lx5z Radial hypoplasia|Underdeveloped outer large forearm bone|Short radii|Shortening of radius|Hypoplastic radii|Radial ray hypoplasia|Hypoplastic radius|Short radius HP:0004989|HP:0005014|HP:0006418|HP:0005081|HP:0005714|HP:0002995 SNOMEDCT_US:205170001|SNOMEDCT_US:93288001|UMLS:C1840087|UMLS:C0685381 human_phenotype owl:Class HP:0012008 biolink:NamedThing Focal cognitive seizure with illusion A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation. hp0009lx5z Illusory auras|Illusory aura hecht 2012-07-20T11:57:32Z HP:0032695 UMLS:C4023083 owl:Class HP:0031443 biolink:NamedThing Abnormal tricuspid valve leaflet morphology Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve. hp0009lx5z 2017-09-17 13:42:38+00:00 peter owl:Class HP:0001702 biolink:NamedThing Abnormal tricuspid valve morphology Any structural anomaly of the tricuspid valve. hp0009lx5z Abnormality of the tricuspid valve HP:0031440 EPCC:06.01.00|UMLS:C4025753 human_phenotype owl:Class HP:0006516 biolink:NamedThing Hypersensitivity pneumonitis Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010). hp0009lx5z Hypersensitivity pneumonitis may also be called many different names, based on the provoking antigen. UMLS:C0002390|MSH:D000542|SNOMEDCT_US:37471005 owl:Class HP:0005764 biolink:NamedThing Polyarticular arthritis hp0009lx5z UMLS:C0162323|MSH:D001168|SNOMEDCT_US:416956002|SNOMEDCT_US:417373000 human_phenotype owl:Class HP:0005195 biolink:NamedThing Polyarticular arthropathy hp0009lx5z UMLS:C4025239 human_phenotype owl:Class HP:0000073 biolink:NamedThing Ureteral duplication A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. hp0009lx5z Double ureter SNOMEDCT_US:49496001|UMLS:C0221365 owl:Class HP:0012571 biolink:NamedThing Ureter fissus A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder. hp0009lx5z Partially duplicated ureter This anomaly is only seen in the presence of renal duplication. peter 2014-01-16T11:38:41Z ICD-10:Q62.5|UMLS:C4021079 human_phenotype owl:Class HP:0025133 biolink:NamedThing Abnormal serum estradiol A deviation from normal concentrations of estradiol in the circulation. hp0009lx5z 2016-11-27 13:52:20+00:00 Estradiol is the most biologically prevalent and active compound of a class of steroids called estrogens HPO:probinson owl:Class HP:0025132 biolink:NamedThing Abnormal circulating estrogen level A deviation from normal concentration of the hormone estrogen in the blood circulation. hp0009lx5z Abnormal circulating oestrogen level|Abnormal oestrogen level|Abnormal estrogen level 2016-11-27 13:46:29+00:00 Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3). HPO:probinson owl:Class HP:0011374 biolink:NamedThing Incomplete partition of the cochlea type I Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation. hp0009lx5z peter 2012-03-07T08:26:25Z UMLS:C4023391 human_phenotype owl:Class HP:0011373 biolink:NamedThing Incomplete partition of the cochlea Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. hp0009lx5z peter 2012-03-07T08:24:55Z UMLS:C4023392 human_phenotype owl:Class HP:0031586 biolink:NamedThing Tessier number 14 facial cleft This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan. hp0009lx5z Tessier facial cleft number 14 2017-10-14 12:56:19+00:00 peter owl:Class HP:0010304 biolink:NamedThing Spinal meningeal diverticulum An outpouching of the spinal meninges. hp0009lx5z peter 2009-07-12T01:11:53Z UMLS:C4023913 human_phenotype owl:Class HP:0010303 biolink:NamedThing Abnormal spinal meningeal morphology Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord. hp0009lx5z Abnormality of the spinal meninges peter 2009-07-12T01:10:09Z UMLS:C4023914 human_phenotype owl:Class HP:0003884 biolink:NamedThing Triangular humerus hp0009lx5z Triangular long bone of upper arm UMLS:C4025530 human_phenotype owl:Class HP:0009878 biolink:NamedThing Cerebellar ataxia associated with quadrupedal gait The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight). hp0009lx5z 2009-03-28T05:22:45Z UMLS:C4024175 human_phenotype owl:Class HP:0032828 biolink:NamedThing Neonatal bilateral symmetric tonic seizure Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically. hp0009lx5z peter owl:Class HP:0008587 biolink:NamedThing Mild neurosensory hearing impairment The presence of a mild form of sensorineural hearing impairment. hp0009lx5z Mild neurosensory hearing loss A neurosensory hearing loss with a deficit of 21-40 dB. UMLS:C4021538 human_phenotype owl:Class HP:0012712 biolink:NamedThing Mild hearing impairment The presence of a mild form of hearing impairment. hp0009lx5z Mild hearing impairment peter 2014-03-23T12:33:46Z UMLS:C4022758 human_phenotype owl:Class HP:0011871 biolink:NamedThing Impaired ristocetin-induced platelet aggregation Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. hp0009lx5z peter 2012-05-30T05:39:52Z UMLS:C4023154 human_phenotype owl:Class HP:0000240 biolink:NamedThing Abnormality of skull size Any abnormality of the size of the skull. hp0009lx5z Abnormality of skull size|Abnormality of cranium size|Abnormality of head size UMLS:C4025874 human_phenotype owl:Class HP:0004006 biolink:NamedThing Round radial epiphyses hp0009lx5z UMLS:C4025451 human_phenotype owl:Class HP:0011786 biolink:NamedThing Thyrotoxicosis with toxic single thyroid nodule hp0009lx5z peter 2012-04-22T06:16:09Z UMLS:C0154141|SNOMEDCT_US:69329005|SNOMEDCT_US:73869005 human_phenotype owl:Class HP:0010911 biolink:NamedThing Hyperleucinemia An increased concentration of leucine in the blood. hp0009lx5z High blood leucine concentration Normal leucine blood levels are around 120-160 micromole per liter. peter 2010-12-08T08:45:56Z SNOMEDCT_US:24013007|UMLS:C0268576 human_phenotype owl:Class HP:0032764 biolink:NamedThing Focal autonomic seizure with erection A type of focal autonomic seizure characterised by penile erection as the intial semiological feature. hp0009lx5z peter owl:Class HP:0004401 biolink:NamedThing Meconium ileus Obstruction of the intestine due to abnormally thick meconium. hp0009lx5z Meconium ileus in neonates|Meconium ileus on ultrasonography|Distal intestinal obstruction syndrome Obstruction of the intestine is known as ileus. peter 2008-03-18T09:16:00Z HP:0004402|HP:0002610 SNOMEDCT_US:233662009|SNOMEDCT_US:206523001|UMLS:C0398349|SNOMEDCT_US:86092005|UMLS:C3553397|UMLS:C2939175 human_phenotype owl:Class HP:0010676 biolink:NamedThing Mechanical ileus hp0009lx5z sandra1 2010-03-01T08:43:38Z SNOMEDCT_US:46420000|UMLS:C0400843 human_phenotype owl:Class HP:0003498 biolink:NamedThing Disproportionate short stature A kind of short stature in which different regions of the body are shortened to differing extents. hp0009lx5z Short stature, severe disproportionate|Short stature, disproportionate HP:0008900|HP:0008895 UMLS:C0878659|UMLS:C1846797 human_phenotype owl:Class HP:0200024 biolink:NamedThing Premature chromatid separation The presence of premature sister chromatid segregation. hp0009lx5z sebastiankohler 2010-06-16T05:13:30Z UMLS:C4021899 human_phenotype owl:Class HP:0008108 biolink:NamedThing Advanced tarsal ossification Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. hp0009lx5z Accelerated ankle bone maturation|Precociously ossified tarsal bones HP:0008137 UMLS:C1849293|UMLS:C4280417 human_phenotype owl:Class HP:0032805 biolink:NamedThing Focal impaired awareness sensory seizure with vestibular features A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0031965 biolink:NamedThing Increased RBC distribution width Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage. hp0009lx5z Increased red blood cell distribution width 2018-07-07 14:42:53+00:00 Although RDW has been traditionally used in the investigation of the etiology of anemia there is an increasing evidence linking elevated RDW with poor outcome in general population [4, 5], in patients with coronary artery disease, with metabolic syndrome and heart failure. peter owl:Class HP:0000576 biolink:NamedThing Centrocecal scotoma A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. hp0009lx5z SNOMEDCT_US:33014001|MSH:D012607|UMLS:C0271196 human_phenotype owl:Class HP:0030562 biolink:NamedThing Best corrected visual acuity 0.9 LogMAR hp0009lx5z UMLS:C4073035 owl:Class HP:0010207 biolink:NamedThing Osteolytic defect of the proximal toe phalanx Dissolution or degeneration of bone tissue of the proximal toe phalanx. hp0009lx5z Osteolytic defects of the proximal phalanges of the toes doelkens 2009-05-29T01:54:18Z UMLS:C4021314 human_phenotype owl:Class HP:0010094 biolink:NamedThing Complete duplication of the proximal phalanx of the hallux Complete duplication of the proximal phalanx of big toe. hp0009lx5z Complete duplication of the innermost bone of big toe doelkens 2009-05-29T12:18:59Z UMLS:C4024053 human_phenotype owl:Class HP:0001443 biolink:NamedThing Abnormality of the gluteal musculature hp0009lx5z Abnormality of glutes peter 2008-04-07T10:31:00Z UMLS:C4025782 human_phenotype owl:Class HP:0001469 biolink:NamedThing Abnormal morphology of the pelvis musculature hp0009lx5z Abnormality of the musculature of the pelvis peter 2008-04-07T10:55:00Z UMLS:C4025768 human_phenotype owl:Class HP:0002918 biolink:NamedThing Hypermagnesemia An abnormally increased magnesium concentration in the blood. hp0009lx5z High blood magnesium levels|High blood Mg levels SNOMEDCT_US:66978005|UMLS:C0151714 human_phenotype owl:Class HP:0004921 biolink:NamedThing Abnormal magnesium concentration An abnormality of magnesium ion homeostasis. hp0009lx5z Abnormal magnesium metabolism|Abnormality of magnesium homeostasis|Abnormal Mg concentration HP:0008274 UMLS:C4020826|UMLS:C4025274 human_phenotype owl:Class HP:0010169 biolink:NamedThing Pseudoepiphyses of the toes hp0009lx5z doelkens 2009-05-29T01:34:06Z UMLS:C4023990 human_phenotype owl:Class HP:0025583 biolink:NamedThing Tapetal-like fundal reflex Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals. hp0009lx5z 2018-01-13 19:32:18+00:00 This appearance is typically seen in female carriers of X-linked RP associated mutations. HPO:probinson owl:Class HP:0031942 biolink:NamedThing Congenital absence of portal vein Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts. hp0009lx5z CAPV|Missing portal vein 2018-07-05 13:42:31+00:00 peter owl:Class HP:0040225 biolink:NamedThing Decrease in high molecular weight von Willebrand factor Multimers A decrease in high molecular weight von Willebrand factor multimers. hp0009lx5z Decrease in HMW VWF multimers Requested and created by members of the BRIDGE consortium. UMLS:C4280718 owl:Class HP:0040056 biolink:NamedThing Absent upper eyelashes hp0009lx5z Failure of development of upper eyelashes|Atrichia of upper eyelashes|Agenesis of upper eyelashes|Absent upper eyelashes|Aplasia of upper eyelashes HPO:skoehler UMLS:C4280255|UMLS:C4022462|UMLS:C4280294 owl:Class HP:0000561 biolink:NamedThing Absent eyelashes Lack of eyelashes. hp0009lx5z Agenesis of eyelashes|Absent eyelashes|Failure of development of eyelashes|Atrichia of eyelashes|Aplasia of eyelashes Often this finding is congenital and associated with alopecia universalis, but this should be coded separately. HP:0004516|HP:0002288|HP:0007926|HP:0004539 UMLS:C1843005|UMLS:C4280627|UMLS:C4280626 human_phenotype owl:Class HP:0009506 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 2nd finger Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger. hp0009lx5z Fragmentation of end part of the outermost bone of the index finger doelkens 2009-01-16T01:11:04Z UMLS:C4024324 human_phenotype owl:Class HP:0008197 biolink:NamedThing Absence of pubertal development hp0009lx5z UMLS:C1846228 human_phenotype owl:Class HP:0007436 biolink:NamedThing Hair-nail ectodermal dysplasia hp0009lx5z UMLS:C4024880 human_phenotype owl:Class HP:0001998 biolink:NamedThing Neonatal hypoglycemia hp0009lx5z Low blood sugar in newborn UMLS:C0158986|SNOMEDCT_US:52767006 human_phenotype owl:Class HP:0032827 biolink:NamedThing Multifocal neonatal sequential seizure Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs. hp0009lx5z No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. peter owl:Class HP:0033091 biolink:NamedThing Tyrosinuria An abnormally increased level of tyrosine in the urine. hp0009lx5z Increased tyrosine in urine peter owl:Class HP:0033090 biolink:NamedThing Increased aromatic amino acid level in urine An elevated level of an aromatic amino acid in the urine. hp0009lx5z peter owl:Class HP:0001225 biolink:NamedThing Wrist swelling hp0009lx5z Wrist swelling UMLS:C0241760 human_phenotype owl:Class HP:0033921 biolink:NamedThing Renal arteriole endoarterial hypercellularity Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. hp0009lx5z Endoarterial hypercellularity within arterioles 2021-06-24 00:57:59+00:00 peter owl:Class HP:0033895 biolink:NamedThing Abnormal renal arteriole endothelium morphology Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. hp0009lx5z 2021-06-23 22:17:46+00:00 peter owl:Class HP:0008838 biolink:NamedThing Stippled calcification proximal humeral epiphyses hp0009lx5z Speckled calcifications in end part of innermost long bone of upper arm UMLS:C1857243 human_phenotype owl:Class HP:0003901 biolink:NamedThing Stippled calcification of the humeral epiphyses hp0009lx5z UMLS:C4025519 human_phenotype owl:Class HP:0010532 biolink:NamedThing Paroxysmal vertigo Paroxysmal episodes of vertigo. hp0009lx5z peter 2009-09-20T09:12:15Z UMLS:C0522357|MSH:D014717|SNOMEDCT_US:103290003 human_phenotype owl:Class HP:0002321 biolink:NamedThing Vertigo An abnormal sensation of spinning while the body is actually stationary. hp0009lx5z Dizziness|Dizzy spell MSH:D004244|SNOMEDCT_US:404640003|SNOMEDCT_US:399090003|SNOMEDCT_US:271789005|MSH:D014717|SNOMEDCT_US:399153001|UMLS:C0012833|UMLS:C0042571 owl:Class HP:4000033 biolink:NamedThing Non-spinning vertigo A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving). hp0009lx5z 2021-05-02 15:11:06+00:00 This feature can be observed in mal de debarquement syndrome and in vestibular paroxysmia. robinp owl:Class HP:0010433 biolink:NamedThing Short distal phalanx of the 2nd toe Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia. hp0009lx5z Hypoplastic/small distal phalanx of the 2nd toe|Short distal phalanx of the second toe|Short outermost bone of the 2nd toe doelkens 2009-07-16T04:28:07Z UMLS:C4021267 human_phenotype owl:Class HP:0032241 biolink:NamedThing Cervical neoplasm A tumor (abnormal growth of tissue) of the uterine cervix. hp0009lx5z 2019-01-26 19:47:41+00:00 peter owl:Class HP:0000337 biolink:NamedThing Broad forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. hp0009lx5z Wide forehead|Increased bitemporal width|Intertemporal widening|Bitemporal widening|Increased bitemporal dimension|Increased width of the forehead|Broad forehead Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. HP:0000352|HP:0000354 UMLS:C1849089 human_phenotype owl:Class HP:0009526 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 2nd finger hp0009lx5z Cone-shaped end part of innermost long bone of index finger|Cone-shaped epiphysis of proximal index finger phalanx doelkens 2009-01-16T01:12:34Z HP:0004128 UMLS:C4021456 human_phenotype owl:Class HP:0025155 biolink:NamedThing Abnormality of hepatobiliary system physiology A functional anomaly of the hepatobiliary system hp0009lx5z 2016-12-04 12:05:04+00:00 HPO:probinson owl:Class HP:0025032 biolink:NamedThing Abnormality of digestive system physiology A functional anomaly of the digestive system. hp0009lx5z 2016-08-27 13:58:05+00:00 HPO:probinson owl:Class HP:0100573 biolink:NamedThing Muscular cardiac diverticulum hp0009lx5z doelkens 2010-12-21T05:14:00Z UMLS:C4022021 human_phenotype owl:Class HP:0011190 biolink:NamedThing Uni- and bilateral multifocal epileptiform discharges Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere. hp0009lx5z hecht 2011-11-19T10:48:14Z UMLS:C4023484 human_phenotype owl:Class HP:0003347 biolink:NamedThing Impaired lymphocyte transformation with phytohemagglutinin Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes. hp0009lx5z The response of lymphocytes to PHA is measured by their ability to transform and to undergo mitosis. UMLS:C4025625 human_phenotype owl:Class HP:0030980 biolink:NamedThing Reduced brain glutamine level by MRS An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z 2017-05-05T09:56:23Z HPO:probinson owl:Class HP:0031288 biolink:NamedThing Cobblestone-like hyperkeratosis The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. hp0009lx5z 2017-08-13 20:43:09+00:00 peter owl:Class HP:0005428 biolink:NamedThing Severe recurrent varicella hp0009lx5z MSH:C563458|UMLS:C1833487 human_phenotype owl:Class HP:0011187 biolink:NamedThing Focal EEG discharges with propagation to ipsilateral hemisphere Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain. hp0009lx5z hecht 2011-11-19T10:43:06Z UMLS:C4023487 human_phenotype owl:Class HP:0009471 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 3rd finger Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. hp0009lx5z Camptodactyly of the third finger|Camptodactyly of the 3rd finger doelkens 2009-01-15T09:50:20Z UMLS:C4021467 human_phenotype owl:Class HP:0009319 biolink:NamedThing Joint contracture of the 3rd finger Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected. hp0009lx5z Camptodactyly of middle finger doelkens 2009-01-12T11:05:43Z HP:0004151 UMLS:C4021492 human_phenotype owl:Class HP:0010477 biolink:NamedThing Aplasia of the bladder Aplasia (absence) of the urinary bladder. hp0009lx5z Absent bladder peter 2009-09-15T10:10:19Z UMLS:C4023812 human_phenotype owl:Class HP:0003834 biolink:NamedThing Shoulder dislocation A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. hp0009lx5z Shoulder dislocation UMLS:C0037005|MSH:D012783|SNOMEDCT_US:125615005|SNOMEDCT_US:417076003 human_phenotype owl:Class HP:0030310 biolink:NamedThing Upper extremity joint dislocation Displacement or malalignment of one or more joints in the upper extremity (arm). hp0009lx5z Dislocated arm joints UMLS:C4022517 owl:Class HP:0030824 biolink:NamedThing Mizuo phenomenon Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. hp0009lx5z Mizuo-Nakamura phenomenon UMLS:C4280748 owl:Class HP:0010706 biolink:NamedThing 1-3 finger syndactyly Syndactyly with fusion of fingers one to three. hp0009lx5z Webbed 1st-3rd finger sdoelken 2010-03-26T05:12:44Z UMLS:C4023730 human_phenotype owl:Class HP:0025356 biolink:NamedThing Psychomotor retardation hp0009lx5z Motormental retardation|Psychomotor impairment|Psychomotor slowing 2017-02-17 11:43:42+00:00 A behavioral anomaly characterized by reduced mental and motor activity. Psychomotor retardation is a compound anomaly of behavior characterized by abnormalities of speech (Increased pauses, decreased volume, reduced articulation, reduced tone and infection, delayed response), eye movent (fized ganze and poor eye contact), gross movement (Decreased and/or slowed movement of hands, legs, torso, head), slumped posture, flat facial expression, and increased self-touching. HPO:probinson owl:Class HP:0007402 biolink:NamedThing Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines hp0009lx5z UMLS:C4024886 human_phenotype owl:Class HP:0040178 biolink:NamedThing Increased level of platelet-activating factor hp0009lx5z Increased level of PAF HPO:skoehler UMLS:C4073143 owl:Class HP:0002472 biolink:NamedThing Small cerebral cortex Reduced size of the cerebral cortex. hp0009lx5z Decreased volume of cerebral cortex HP:0006791|HP:0007151 UMLS:C1837503 human_phenotype owl:Class HP:0012616 biolink:NamedThing Leukocyte cylindruria Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. hp0009lx5z White blood cell casts peter 2014-01-17T12:05:08Z UMLS:C4022819 human_phenotype owl:Class HP:0031197 biolink:NamedThing Cellular urinary casts A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells). hp0009lx5z Cellular casts 2017-06-27 10:50:11+00:00 peter owl:Class HP:0004933 biolink:NamedThing Ascending aortic dissection A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. hp0009lx5z Type A aortic dissection According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch. UMLS:C1836653 human_phenotype owl:Class HP:0002647 biolink:NamedThing Aortic dissection Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. hp0009lx5z Tear in inner wall of large artery that carries blood away from heart HP:0002622 UMLS:C0340643|SNOMEDCT_US:308546005 owl:Class HP:0030817 biolink:NamedThing Beaked nails Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit. hp0009lx5z Beaked nails may be observed with conditions including hyperparathyroidism, renal failure, psoriasis, and systemic sclerosis. UMLS:C4280752 owl:Class HP:0009757 biolink:NamedThing Intercrural pterygium A pterygium (or pterygia) in the intercrural (groin) region. hp0009lx5z peter 2009-01-31T08:58:49Z UMLS:C3810471 human_phenotype owl:Class HP:0006949 biolink:NamedThing Episodic peripheral neuropathy hp0009lx5z UMLS:C1848695 human_phenotype owl:Class HP:0007576 biolink:NamedThing Palmar neurofibromas hp0009lx5z UMLS:C4024841 human_phenotype owl:Class HP:0032071 biolink:NamedThing Eosinophilic pneumonia The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia. hp0009lx5z Pulmonary eosinophilic infiltration|Pulmonary eosinophilic infiltrate|Pulmonary eosinophilia|Eosinophilic pulmonary infiltration 2018-09-30 15:15:06+00:00 Pulmonary function testing usually reveals a restrictive process with reduced diffusion capacity for carbon monoxide. Laboratory tests typical include increased levels of eosinophils in the blood, a high erythrocyte sedimentation rate, iron deficiency anemia, and increased platelets. peter owl:Class HP:0012021 biolink:NamedThing Persistent patent ductus venosus Persistence of blood flow through the ductus venosus for longer than the normal time after birth. hp0009lx5z The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. peter 2012-07-26T10:10:58Z UMLS:C4023072 human_phenotype owl:Class HP:0001895 biolink:NamedThing Normochromic anemia hp0009lx5z Normochromic anaemia UMLS:C0235983 human_phenotype owl:Class HP:0009829 biolink:NamedThing Phocomelia Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). hp0009lx5z doelkens 2009-02-23T05:17:25Z HP:0002994 MEDDRA:10034923|UMLS:C0031575|MSH:D004480|SNOMEDCT_US:22841008 human_phenotype owl:Class HP:0007354 biolink:NamedThing Amyotrophic lateral sclerosis hp0009lx5z Lou Gehrig's disease UMLS:C0002736|SNOMEDCT_US:86044005|MSH:D000690 human_phenotype owl:Class HP:0007373 biolink:NamedThing Motor neuron atrophy Wasting involving the motor neuron. hp0009lx5z Motor neuron degeneration peter 2008-04-01T10:39:00Z UMLS:C4024896 human_phenotype owl:Class HP:0011448 biolink:NamedThing Ankle clonus Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. hp0009lx5z Abnormal rhythmic movements of ankle Ankle clonus is generally caused by corticospinal disease. peter 2012-03-18T05:09:48Z HP:0002541 UMLS:C0238651|SNOMEDCT_US:39055007 owl:Class HP:0005145 biolink:NamedThing Coronary artery stenosis Abnormal narrowing of the coronary artery. hp0009lx5z Narrowing of coronary artery UMLS:C0242231|MSH:D023921|SNOMEDCT_US:233970002 human_phenotype owl:Class HP:0006704 biolink:NamedThing Abnormal coronary artery morphology Any structural abnormality of the coronary arteries. hp0009lx5z peter 2008-03-29T03:33:00Z SNOMEDCT_US:28574005|Fyler:3100|UMLS:C0158623 human_phenotype owl:Class HP:0033439 biolink:NamedThing Elevated circulating decenoylcarnitine concentration Increased concentration of decenoylcarnitine in the blood circulation. hp0009lx5z Elevated circulating O-decenoylcarnitine concentration|Elevated plasma decenoylcarnitine, C10:1 2021-01-09 18:40:52+00:00 peter owl:Class HP:0001783 biolink:NamedThing Broad metatarsal Increased side-to-side width of a metatarsal bone. hp0009lx5z Wide long bone of foot|Broad metatarsals|Widened metatarsal shaft HP:0005907|HP:0008106 UMLS:C1842231|UMLS:C1850161 human_phenotype owl:Class HP:0003119 biolink:NamedThing Abnormal circulating lipid concentration Any deviation from the normal concentration of a lipid in the blood circulation. hp0009lx5z Dyslipidemia|Dyslipidaemia According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. HP:0003611 UMLS:C0242339|UMLS:C4025650|MSH:D050171|SNOMEDCT_US:370992007 owl:Class HP:0012080 biolink:NamedThing Cerebellar granular layer atrophy Atrophy of the cerebellum affecting primarily the granular cell layer. hp0009lx5z peter 2012-08-18T05:23:55Z UMLS:C4023054 owl:Class HP:0100563 biolink:NamedThing Diastomatomyelia Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum. hp0009lx5z doelkens 2010-12-21T04:35:22Z UMLS:C4022023 human_phenotype owl:Class HP:0003971 biolink:NamedThing Broad forearm bones Abnormally wide bone of the skeleton of forearm. hp0009lx5z Wide forearm bones|Broad forearm bones UMLS:C4021700 human_phenotype owl:Class HP:0200016 biolink:NamedThing Acrokeratosis Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. hp0009lx5z Acral keratosis sebastiankohler 2010-06-16T12:18:42Z UMLS:C0001202|SNOMEDCT_US:46629009 human_phenotype owl:Class HP:0011368 biolink:NamedThing Epidermal thickening Thickening of the epidermal layer of the skin. hp0009lx5z Abnormality of keratinization peter 2012-03-03T12:25:18Z HP:0001035 UMLS:C0494876|UMLS:C4020752 human_phenotype owl:Class HP:4000031 biolink:NamedThing Anti-type VII collagen antibody The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII. hp0009lx5z 2021-05-02 15:04:26+00:00 Anti-type VII collagen may be detected in bullous pemphigoid patients at time of relapse. robinp owl:Class HP:0033554 biolink:NamedThing Anti-Mi2 antibody positivity The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen. hp0009lx5z 2021-01-23 11:39:19+00:00 The Mi-2 antigen is a nuclear antigen, component of the Nucleosome Remodelling-Deacetylase (NuRD) complex involved in transcription regulation. Autoantibodies targeting the Mi-2 nuclear antigen are a serologic hallmark of idiopathic inflammatory myopathies, with a diagnostic sensitivity and specificity of approximately 4-18% and 98-100%, respectively. They are most strongly associated with dermatomyositis and correlate with HLA-DR7. peter owl:Class HP:0011199 biolink:NamedThing EEG with generalized sharp slow waves EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. hp0009lx5z EEG with generalised sharp slow waves hecht 2011-11-19T11:17:38Z UMLS:C4023475 human_phenotype owl:Class HP:0002822 biolink:NamedThing Hyperplasia of the femoral trochanters hp0009lx5z Hyperplastic femoral trochanters UMLS:C3277120 human_phenotype owl:Class HP:0031307 biolink:NamedThing Internal carotid artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery. hp0009lx5z 2017-08-26 21:32:35+00:00 peter owl:Class HP:0200116 biolink:NamedThing Distal ileal atresia hp0009lx5z sebastiankohler 2013-06-06T04:14:39Z UMLS:C3279409 human_phenotype owl:Class HP:0011102 biolink:NamedThing Ileal atresia An abnormal closure, or atresia of the tubular structure of the ileum. hp0009lx5z peter 2011-06-04T09:22:34Z SNOMEDCT_US:25896009|UMLS:C0266176 human_phenotype owl:Class HP:0003555 biolink:NamedThing Muscle fiber splitting Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. hp0009lx5z Fiber splitting|Muscle fibre splitting|Fibre splitting UMLS:C1836057 human_phenotype owl:Class HP:0033409 biolink:NamedThing Elevated urinary 2-hydroxybutyric acid An increased amount of 2-hydroxybutyric acid in the urine. hp0009lx5z 2021-01-09 16:16:26+00:00 peter owl:Class HP:0100826 biolink:NamedThing Neoplasm of the nail A tumor (abnormal growth of tissue) of the nail. hp0009lx5z Nail tumor|Nail tumour doelkens 2011-06-09T05:31:21Z UMLS:C4021961|NCIT:C3262 owl:Class HP:0032916 biolink:NamedThing Focal aware verbal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0032904 biolink:NamedThing Focal verbal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset. hp0009lx5z peter owl:Class HP:0012899 biolink:NamedThing Handgrip myotonia Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. hp0009lx5z Grip myotonia peter 2014-06-23T11:10:53Z UMLS:C1868623 human_phenotype owl:Class HP:0025364 biolink:NamedThing Glomerular extracapillary hypercellularity Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. hp0009lx5z Extracapillary glomerular hypercellularity|Extracapillary hypercellularity 2017-02-20 14:07:24+00:00 HPO:probinson owl:Class HP:0003562 biolink:NamedThing Abnormal metaphyseal vascular invasion hp0009lx5z UMLS:C3277127 human_phenotype owl:Class HP:0033536 biolink:NamedThing Reduced platelet alpha granules A reduced number of platelet alpha granules. hp0009lx5z 2021-01-15 13:05:30+00:00 peter owl:Class HP:0012528 biolink:NamedThing Abnormal number of alpha granules A deviation from the normal count of alpha granules per thrombocyte. hp0009lx5z peter 2013-12-15T09:07:34Z UMLS:C4022862 owl:Class HP:0005181 biolink:NamedThing Premature coronary artery atherosclerosis Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. hp0009lx5z Premature coronary artery disease UMLS:C1867743 human_phenotype owl:Class HP:0100200 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe. hp0009lx5z Speckled calcifications in the end part of the innermost bone of the 4th toe doelkens 2010-06-24T04:54:59Z UMLS:C4022221 human_phenotype owl:Class HP:0011489 biolink:NamedThing Abnormal migration of corneal endothelium Abnormal migration of corneal endothelium. hp0009lx5z Can be seen in posterior polymorphous corneal dystrophy. peter 2012-04-02T10:20:17Z UMLS:C4023331 human_phenotype owl:Class HP:0004467 biolink:NamedThing Preauricular pit Small indentation anterior to the insertion of the ear. hp0009lx5z Preauricular sinus|Pit in front of the ear|Ear pit|Preauricular pits|Preauricular earpits|Preauricular fistulas Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. HP:0004460|HP:0005118|HP:0000392|HP:0008578|HP:0008552 UMLS:C0546969|SNOMEDCT_US:1955003|SNOMEDCT_US:204271000|MSH:C563015|UMLS:C0266625|SNOMEDCT_US:204272007|UMLS:C0266610 human_phenotype owl:Class HP:0032832 biolink:NamedThing Neonatal bilateral asymmetric myoclonic seizure Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically. hp0009lx5z peter owl:Class HP:0032650 biolink:NamedThing Elevated CSF glial fibrillary acidic protein level Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid. hp0009lx5z Elevated CSF glial fibrillary acidic protein levels are considered to be a glial marker of neuroinflammation. peter owl:Class HP:0033036 biolink:NamedThing Decreased nasal nitric oxide Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. hp0009lx5z Low nasal nitric oxide level Nasal nitric oxide (nNO) is measurable in nasal air and found to be low in cystic fibrosis and very low in primary ciliary dyskinesia. peter owl:Class HP:0007048 biolink:NamedThing Large basal ganglia Increased size of the basal ganglia. hp0009lx5z UMLS:C1859470 human_phenotype owl:Class HP:0031042 biolink:NamedThing Strawberry tongue Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. hp0009lx5z Raspberry tongue 2017-05-27 13:34:44+00:00 peter owl:Class HP:0025431 biolink:NamedThing Staccato cry A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations. hp0009lx5z 2017-04-23 13:07:13+00:00 HPO:probinson owl:Class HP:0004414 biolink:NamedThing Abnormality of the pulmonary artery An abnormality of the pulmonary artery. hp0009lx5z Abnormality of lung artery peter 2008-03-18T09:28:00Z UMLS:C0009681|SNOMEDCT_US:128588008|SNOMEDCT_US:198914002|SNOMEDCT_US:36110001 owl:Class HP:0033150 biolink:NamedThing Anorectal abscess An abscess located at the junction of the anal canal and the rectum. hp0009lx5z 2020-09-20 11:07:40+00:00 peter owl:Class HP:0007115 biolink:NamedThing Orbital encephalocele hp0009lx5z SNOMEDCT_US:15671007|UMLS:C0271330 human_phenotype owl:Class HP:0002084 biolink:NamedThing Encephalocele A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. hp0009lx5z Cranium bifidum|Bifid skull A congenital gap in the skull that usually results in a protrusion of brain material. HP:0002736|HP:0100664 SNOMEDCT_US:48777005|SNOMEDCT_US:253101008|MSH:D004677|UMLS:C0014065|SNOMEDCT_US:55999004 human_phenotype owl:Class HP:0025385 biolink:NamedThing Diet-resistant subcutaneous adipose tissue below waist Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. hp0009lx5z 2017-04-21 11:55:24+00:00 HPO:probinson owl:Class HP:0025384 biolink:NamedThing Diet-resistant subcutaneous adipose tissue Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. hp0009lx5z 2017-04-21 11:45:42+00:00 In certain diseases such as multiple symmetric lipomatosis, lipedema and Dercum's disease, accumulation of subcutaneous adipose tissue may result from growth of an abnormal brown stem cell population or from vascular or lymphatic dysfunction, with the result that the subcutaneous adipose tissue is difficult or impossible to reduce by caloric limitation and increased energy expenditure. HPO:probinson owl:Class HP:0010760 biolink:NamedThing Absent toe Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. hp0009lx5z Absent toe|Aplasia of toe|Aplasia of the toes|Absent toes This descriptor does NOT require absence of the metatarsal. The definition excludes partial absent hallux. doelkens 2010-04-23T03:58:25Z HP:0010108|HP:0008084|HP:0011306 UMLS:C3553754 human_phenotype owl:Class HP:0009703 biolink:NamedThing Synostosis involving the 1st metacarpal Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Fusion involving 1st long bone of hand|Symphalangism affecting the 1st metacarpal|First metacarpophalangeal joint synostosis doelkens 2009-01-30T04:26:41Z HP:0010032|HP:0005614 UMLS:C4021397 human_phenotype owl:Class HP:0008588 biolink:NamedThing Slit-like opening of the exterior auditory meatus A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit. hp0009lx5z UMLS:C1846459 human_phenotype owl:Class HP:0003906 biolink:NamedThing Broad humeral epiphyseal plate Increased width of the humeral epiphyseal growth plate. hp0009lx5z Wide long bone of arm growth plate|Wide humeral epiphyseal plate UMLS:C4021708|UMLS:C4280540 human_phenotype owl:Class HP:0003905 biolink:NamedThing Abnormality of the humeral epiphyseal plate hp0009lx5z Abnormality of arm long bone growth plate UMLS:C4025518|UMLS:C4280541 human_phenotype owl:Class HP:0009352 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 3rd finger Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the innermost middle finger bone doelkens 2009-01-12T11:19:03Z UMLS:C4024417 human_phenotype owl:Class HP:0032311 biolink:NamedThing Increased circulating globulin level An abnormally elevated concentration of globulins in the blood. hp0009lx5z 2019-02-14 11:01:24+00:00 peter owl:Class HP:0011798 biolink:NamedThing Renal oncocytoma A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. hp0009lx5z Renal oncocytoma is seen in Birt-Hogg-Dube syndrome (OMIM 135150). peter 2012-04-22T08:13:36Z SNOMEDCT_US:254922006|UMLS:C0346255|MSH:C537750 human_phenotype owl:Class HP:0009490 biolink:NamedThing Cone-shaped epiphyses of the 2nd finger A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. hp0009lx5z Cone-shaped end part of the index finger doelkens 2009-01-16T01:07:16Z UMLS:C4024335 human_phenotype owl:Class HP:0006894 biolink:NamedThing Hypoplastic olfactory lobes hp0009lx5z UMLS:C1859231 human_phenotype owl:Class HP:0100552 biolink:NamedThing Neoplasm of the tracheobronchial system hp0009lx5z doelkens 2010-12-21T03:46:30Z UMLS:C4022026|NCIT:C3262 human_phenotype owl:Class HP:0045012 biolink:NamedThing Decreased urinary catecholamine concentration hp0009lx5z HPO:skoehler UMLS:C4022398 owl:Class HP:0005404 biolink:NamedThing Increased B cell count An abnormal increase from the normal count of B cells. hp0009lx5z Increase in B cell count|Increased number of B cells|Increase in B cell number UMLS:C1858972 human_phenotype owl:Class HP:0031822 biolink:NamedThing Elevated hypoxanthine-guanine phosphoribosyltransferase level Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. hp0009lx5z Elevated 6-hydroxypurine phosphoribosyltransferase level|Elevated 6-mercaptopurine phosphoribosyltransferase level|Elevated GMP pyrophosphorylase level 2018-05-01 02:22:05+00:00 peter owl:Class HP:0031821 biolink:NamedThing Abnormal hypoxanthine-guanine phosphoribosyltransferase level Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. hp0009lx5z Abnormal GMP pyrophosphorylase level|Abnormal 6-hydroxypurine phosphoribosyltransferase level|Abnormal GPRT level 2018-05-01 02:20:08+00:00 peter owl:Class HP:4000013 biolink:NamedThing Anti-desmoglein-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule. hp0009lx5z 2021-05-02 14:18:54+00:00 robinp owl:Class HP:0020196 biolink:NamedThing IgM heavy chain paraproteinemia An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp0009lx5z robinp 2019-09-05 14:05:43+00:00 owl:Class HP:0000924 biolink:NamedThing Abnormality of the skeletal system An abnormality of the skeletal system. hp0009lx5z Skeletal anomalies|Abnormality of the skeletal system|Skeletal abnormalities UMLS:C4021790 human_phenotype owl:Class HP:0004033 biolink:NamedThing Curved olecranon hp0009lx5z UMLS:C4025429 human_phenotype owl:Class HP:0004032 biolink:NamedThing Abnormality of the olecranon hp0009lx5z UMLS:C4025430 human_phenotype owl:Class HP:0008994 biolink:NamedThing Proximal muscle weakness in lower limbs A lack of strength of the proximal muscles of the legs. hp0009lx5z Muscle weakness, proximal, lower limbs HP:0002455|HP:0008941 UMLS:C1866010 human_phenotype owl:Class HP:0003690 biolink:NamedThing Limb muscle weakness Reduced strength and weakness of the muscles of the arms and legs. hp0009lx5z Limb muscle weakness|Limb weakness HP:0002534 UMLS:C0587246|SNOMEDCT_US:713514005 human_phenotype owl:Class HP:0002181 biolink:NamedThing Cerebral edema Abnormal accumulation of fluid in the brain. hp0009lx5z Cerebral oedema|Brain edema|Brain swelling|Brain oedema|Swelling of brain Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging. UMLS:C1527311|UMLS:C0006114|MSH:D001929|SNOMEDCT_US:2032001 human_phenotype owl:Class HP:0003978 biolink:NamedThing Fractured radius hp0009lx5z UMLS:C0034628|MSH:D011885|SNOMEDCT_US:12676007 human_phenotype owl:Class HP:0000239 biolink:NamedThing Large fontanelles In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. hp0009lx5z Large fontanel|Wide fontanelles|Large fontanels|Large bregma sutures|Enlarged fontanelles|Large fontanelle|Persistent wide fontanel|Wide bregma sutures|Large, late-closing fontanelle There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). HP:0004473 UMLS:C0456132|UMLS:C4072820|UMLS:C4072822|SNOMEDCT_US:276709006|UMLS:C4072821 human_phenotype owl:Class HP:0100354 biolink:NamedThing Contracture of the distal interphalangeal joint of the 4th toe The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively. hp0009lx5z UMLS:C4022131 human_phenotype owl:Class HP:0005229 biolink:NamedThing Jejunoileal ulceration hp0009lx5z UMLS:C4025232 human_phenotype owl:Class HP:0007911 biolink:NamedThing Congenital bilateral ptosis hp0009lx5z Congenital drooping of both upper eyelids|Ptosis, congenital bilateral|Ptosis, bilateral congenital HP:0007955|HP:0007719 UMLS:C1836264 human_phenotype owl:Class HP:0100686 biolink:NamedThing Enthesitis hp0009lx5z Inflammation of sharpey fibers|Inflammation of sharpey fibres doelkens 2010-12-30T02:27:20Z SNOMEDCT_US:359643005|UMLS:C1282952 human_phenotype owl:Class HP:0033709 biolink:NamedThing Increased sputum production An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway). hp0009lx5z Increased phlegm 2021-03-31 12:40:14+00:00 If excessive sputum production is manifested by frequent and often involuntary coughing, the HPO term Productive cough should be used. peter owl:Class HP:0009535 biolink:NamedThing Aplasia of the 2nd finger Absent 2nd (index) finger. hp0009lx5z Absent index finger|Absent index finger phalanges|Aplasia of the index finger doelkens 2009-01-19T04:18:22Z HP:0004106 UMLS:C4021453 human_phenotype owl:Class HP:0030662 biolink:NamedThing Vitreous inflammatory cells The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous. hp0009lx5z Normally, there are no leukocytes in the vitreous as this is an immune-privileged site. If the blood-retinal barrier is disrupted, then leukocytes gain access to the vitreous. Vitreous inflammatory cells can be measured by flow cytometry of vitreous fluid. ORCID:0000-0003-0986-4123 UMLS:C4073117 owl:Class HP:0011531 biolink:NamedThing Vitritis Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. hp0009lx5z Hyalitis|Vitreitis peter 2012-04-07T08:21:01Z SNOMEDCT_US:95802009|UMLS:C0235812 human_phenotype owl:Class HP:0500141 biolink:NamedThing Hypophenylalaninemia A decreased amount of phenylalanine in the blood. hp0009lx5z Low blood phenylalanine|Decreased blood phenylalanine 2018-10-03 19:58:21+00:00 owl:Class HP:0040093 biolink:NamedThing Asymmetry of the position of the ears hp0009lx5z Uneven ears HPO:skoehler UMLS:C4022444 owl:Class HP:0011643 biolink:NamedThing Coronary sinus atrial septal defect An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus. hp0009lx5z peter 2012-04-09T09:07:42Z ICD-10:Q21.1|UMLS:C2063331 human_phenotype owl:Class HP:0002090 biolink:NamedThing Pneumonia Inflammation of any part of the lung parenchyma. hp0009lx5z Pneumonia UMLS:C0032285|SNOMEDCT_US:233604007|MSH:D011014 human_phenotype owl:Class HP:0007886 biolink:NamedThing Absent extraocular muscles Congenital absence of the extraocular muscles. hp0009lx5z Absent ocular muscles|Missing eye muscles UMLS:C4024777|UMLS:C1408781 human_phenotype owl:Class HP:0025391 biolink:NamedThing Crazy paving pattern The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. hp0009lx5z Crazy paving pattern on pulmonary HRCT 2017-04-22 12:57:46+00:00 HPO:probinson owl:Class HP:0040227 biolink:NamedThing Decreased level of histidine-rich glycoprotein Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation hp0009lx5z Requested and created by members of the BRIDGE consortium UMLS:C4280716 owl:Class HP:0009496 biolink:NamedThing Small epiphyses of the 2nd finger Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms. hp0009lx5z Small end part of the index finger doelkens 2009-01-16T01:07:16Z UMLS:C4024330 human_phenotype owl:Class HP:0031343 biolink:NamedThing Jejunal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum. hp0009lx5z 2017-08-27 13:55:25+00:00 peter owl:Class HP:0002629 biolink:NamedThing Gastrointestinal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract. hp0009lx5z GI arteriovenous malformation UMLS:C0744321 human_phenotype owl:Class HP:0011626 biolink:NamedThing Scimitar anomaly Right pulmonary venous return to the inferior vena cava. hp0009lx5z Pulmonary venolobar syndrome|Scimitar syndrome peter 2012-04-08T09:57:11Z MSH:D012587|SNOMEDCT_US:39905002|UMLS:C0036400|ICD-10:Q26.8|SNOMEDCT_US:111323005 human_phenotype owl:Class HP:0010773 biolink:NamedThing Partial anomalous pulmonary venous return A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. hp0009lx5z Partial anomalous pulmonary venous connection sdoelken 2010-04-29T10:03:02Z UMLS:C0158634|Fyler:2030|SNOMEDCT_US:68237008 human_phenotype owl:Class HP:0040231 biolink:NamedThing Abnormal onset of bleeding hp0009lx5z UMLS:C4280713 owl:Class HP:0025425 biolink:NamedThing Laryngospasm A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe. hp0009lx5z 2017-04-23 12:48:07+00:00 HPO:probinson owl:Class HP:0025424 biolink:NamedThing Abnormal larynx physiology Any anomaly of the function of the larynx. hp0009lx5z 2017-04-23 12:46:36+00:00 HPO:probinson owl:Class HP:0012294 biolink:NamedThing Abnormal occipital bone morphology Abnormality of the occipital bone of the skull. hp0009lx5z Abnormality of the occipital bone peter 2013-04-11T06:21:12Z UMLS:C4022964 owl:Class HP:0030808 biolink:NamedThing Ragged cuticle The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle. hp0009lx5z UMLS:C4280756 owl:Class HP:0032362 biolink:NamedThing Increased circulating corticosterone level An abnormally elevated concentration of corticosterone in the blood. hp0009lx5z 2019-02-23 17:25:15+00:00 peter owl:Class HP:0012112 biolink:NamedThing Abnormal circulating corticosterone level An abnormality of the concentration of corticosterone in the blood. hp0009lx5z Abnormality of circulating corticosterone level hecht 2012-09-16T04:23:55Z UMLS:C4023037 human_phenotype owl:Class HP:0003833 biolink:NamedThing Laterally deficient tibial plateaux hp0009lx5z UMLS:C4025563 human_phenotype owl:Class HP:0003832 biolink:NamedThing Abnormality of the tibial plateaux hp0009lx5z UMLS:C4025564 human_phenotype owl:Class HP:0025051 biolink:NamedThing Reduced brain creatine level by MRS A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z Low brain creatine phosphate|Reduced brain creatine level by magnetic resonance spectroscopy 2016-09-26 08:48:05+00:00 HPO:probinson owl:Class HP:0012730 biolink:NamedThing Aglossia Absence of the tongue owing to a developmental abnormality. hp0009lx5z Missing tongue|Failure of development of tongue|Absence of tongue peter 2014-03-23T02:30:53Z UMLS:C0158663|SNOMEDCT_US:74788000 human_phenotype owl:Class HP:0032338 biolink:NamedThing Oligoclonal elevation of circulating IgE An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp0009lx5z 2019-02-18 14:16:26+00:00 peter owl:Class HP:0003212 biolink:NamedThing Increased circulating IgE level An abnormally increased overall level of immunoglobulin E in blood. hp0009lx5z High immunoglobulin E|Elevated immunoglobulin E|Elevated serum IgE HP:0005418|HP:0005433|HP:0005382 UMLS:C0236175 human_phenotype owl:Class HP:0011566 biolink:NamedThing Cor triatriatum dexter A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue. hp0009lx5z Cor triatriatum dextrum Cor triatriatum dexter is a Latin phrase meaning that the heart (cor) has three atria (triatriatum) whereby the 'third' atrium is on the right (dexter) side. peter 2012-04-08T08:02:56Z SNOMEDCT_US:274947007|UMLS:C0344697|Fyler:2854 human_phenotype owl:Class HP:0010774 biolink:NamedThing Cor triatriatum The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name). hp0009lx5z Triatrial heart sdoelken 2010-04-29T10:07:24Z Fyler:3031|ICD-10:Q24.2|UMLS:C4023708 human_phenotype owl:Class HP:0010497 biolink:NamedThing Sirenomelia A developmental defect in which the legs are fused together. hp0009lx5z Sympodia peter 2009-09-17T11:11:10Z SNOMEDCT_US:91089008|UMLS:C0037205|MEDDRA:10049216|SNOMEDCT_US:253191000|MSH:D004480|SNOMEDCT_US:67254002 human_phenotype owl:Class HP:0009484 biolink:NamedThing Deviation of the hand or of fingers of the hand Displacement of the hand or of fingers of the hand from their normal position. hp0009lx5z Displaced hand or fingers of the hand doelkens 2009-01-15T10:45:01Z UMLS:C4024338 human_phenotype owl:Class HP:0033723 biolink:NamedThing Abnormal cerebral venous sinus morphology Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins. hp0009lx5z Abnormal dural venous sinus morphology|Abnormality of the cerebral venous sinuses 2021-04-07 16:31:35+00:00 peter owl:Class HP:0005019 biolink:NamedThing Diaphyseal thickening hp0009lx5z Thickening of shaft or central part of long bones UMLS:C1835473 human_phenotype owl:Class HP:0002515 biolink:NamedThing Waddling gait Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. hp0009lx5z Waddling walk|'Waddling' gait UMLS:C0231712|SNOMEDCT_US:271706000|MSH:D020233 human_phenotype owl:Class HP:0020036 biolink:NamedThing Upper limb dysmetria A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm. hp0009lx5z 2017-10-13 12:28:26+00:00 robinp owl:Class HP:0011590 biolink:NamedThing Double aortic arch A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). hp0009lx5z peter 2012-04-08T01:46:10Z Fyler:2761|SNOMEDCT_US:10451007|UMLS:C0265883 human_phenotype owl:Class HP:0012007 biolink:NamedThing Focal cognitive seizure with hallucination A focal cognitive seizure characterized by hallucination as the initial semiological manifestation. hp0009lx5z Hallucinatory auras|Hallucinatory aura Hallucination is the creation of composite perceptions without the presence of external sensory stimuli, these may be visual (e.g. formed images), auditory (e.g. hearing voices) or involve other sensory modalities, without change in awareness. The sensory phenomena may be accompanied by associated emotion or interpretation e.g. a formed visual image may be accompanied by fear, or may be experienced as persecutory or with paranoia (i.e. with unjustified suspicion / mistrust). These features distinguish focal seizures with hallucinations from focal sensory seizures. hecht 2012-07-20T11:56:47Z HP:0032703 UMLS:C4023084 owl:Class HP:0002408 biolink:NamedThing Cerebral arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. hp0009lx5z Cerebral AV malformation SNOMEDCT_US:234142008|MSH:D002538|UMLS:C0917804|Fyler:2201 human_phenotype owl:Class HP:0003859 biolink:NamedThing Cortical diaphyseal thickening of the upper limbs hp0009lx5z UMLS:C4025548 human_phenotype owl:Class HP:0003946 biolink:NamedThing Abnormality of the epiphyses of the elbow hp0009lx5z Abnormality of end part of the elbow bone UMLS:C4025488 human_phenotype owl:Class HP:0005070 biolink:NamedThing Proximal radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction. hp0009lx5z UMLS:C1865570 human_phenotype owl:Class HP:0025062 biolink:NamedThing Geophagia The practice of eating earth or soil-like substrates such as clay or chalk. hp0009lx5z Geophagy 2016-09-26 09:47:56+00:00 HPO:probinson owl:Class HP:0011856 biolink:NamedThing Pica An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. hp0009lx5z hecht 2012-05-21T11:08:54Z SNOMEDCT_US:14077003|UMLS:C0031873|MSH:D010842 human_phenotype owl:Class HP:0031016 biolink:NamedThing Alternating radiolucent and radiodense metaphyseal lines Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra. hp0009lx5z Zebra stripe sign 2017-05-20 11:32:22+00:00 In cases where this sign arises in children treated with bisphosphonates, the sign is known as the zebra stripe sign, which is radiological manifestation of cyclical bisphosphonate therapy prior to closure of epiphyseal growth plates. peter owl:Class HP:0010502 biolink:NamedThing Fibular bowing A bending or abnormal curvature of the fibula. hp0009lx5z Bowed calf bone A developmental defect with posteromedial fibular angulation. peter 2009-09-19T09:45:18Z UMLS:C4023801 human_phenotype owl:Class HP:0032618 biolink:NamedThing Renal necrosis Cell death (necrosis) affecting one or more parts of the kidney. hp0009lx5z Renal parenchymal necrosis peter owl:Class HP:0008703 biolink:NamedThing Gonadal calcification Deposition of calcium salts in gonadal tissue. hp0009lx5z UMLS:C4024636 human_phenotype owl:Class HP:0025342 biolink:NamedThing Central retinal artery occlusion Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss. hp0009lx5z 2017-02-12 13:17:04+00:00 Central retinal artery occlusion canmanifest as sudden, acute, and painless loss of vision in one eye. HPO:probinson owl:Class HP:0009898 biolink:NamedThing Underdeveloped crus of the helix Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average. hp0009lx5z Underdeveloped crus of the ear|Hypoplasia of the crus of the ear peter 2009-04-30T10:36:43Z UMLS:C4021378 human_phenotype owl:Class HP:0009895 biolink:NamedThing Abnormality of the crus of the helix An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. hp0009lx5z Abnormality of the crus of the ear peter 2009-04-30T10:32:41Z UMLS:C4021380 human_phenotype owl:Class HP:0100917 biolink:NamedThing Sclerosis of proximal finger phalanx An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in innermost finger bone|Sclerosis of the proximal phalanges of the hand UMLS:C4020938 human_phenotype owl:Class HP:0005831 biolink:NamedThing Type B brachydactyly hp0009lx5z UMLS:C1862112|MSH:C566196 human_phenotype owl:Class HP:0009243 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 5th finger Patchy increase in bone density of the distal phalanx of the 5th finger. hp0009lx5z Uneven increase in bone density in the outermost bone of pinky finger|Uneven increase in bone density in the outermost bone of little finger|Uneven increase in bone density in the outermost bone of pinkie finger doelkens 2009-01-05T07:25:50Z UMLS:C4024503 human_phenotype owl:Class HP:0009275 biolink:NamedThing Contracture of the distal interphalangeal joint of the 4th finger Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. hp0009lx5z doelkens 2009-01-07T04:10:39Z UMLS:C4024476 human_phenotype owl:Class HP:0009274 biolink:NamedThing Joint contracture of the 4th finger Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected. hp0009lx5z Joint contractures of the fourth finger doelkens 2009-01-07T04:04:54Z HP:0004189 UMLS:C4021504 human_phenotype owl:Class HP:0003642 biolink:NamedThing Type I transferrin isoform profile Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. hp0009lx5z Abnormal isoelectric focusing of serum transferrin, type I pattern|Isoelectric focusing of serum transferrin consistent with CDG type I|Type 1 transferrin isoform profile There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal. UMLS:C1837899 human_phenotype owl:Class HP:0040248 biolink:NamedThing Reduced plasminogen activator inhibitor 1 activity Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator. hp0009lx5z This term has been requested and created by members of the BRIDGE consortium UMLS:C4280700 owl:Class HP:0009524 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 2nd finger hp0009lx5z Absent end part of innermost long bone of index finger doelkens 2009-01-16T01:12:34Z UMLS:C4024309 human_phenotype owl:Class HP:0005085 biolink:NamedThing Limited knee flexion/extension A limited ability of the knee joint to perform extension and flexion. hp0009lx5z UMLS:C1968606 owl:Class HP:0010501 biolink:NamedThing Limitation of knee mobility An abnormal limitation of knee joint mobility. hp0009lx5z Limitation of knee mobility|Limited knee movement The knee permits four types of movement: (i) Extension (straightening the lower leg); (ii) Flexion (bending the knee); (iii) Lateral rotation (turning outwards); and (iv) Medial rotation (turning inward) peter 2009-09-19T09:44:33Z HP:0005030|HP:0005192 UMLS:C4021259 owl:Class HP:0008945 biolink:NamedThing Loss of ability to walk in early childhood hp0009lx5z UMLS:C1835993 human_phenotype owl:Class HP:0031205 biolink:NamedThing Reduced lysosomal acid lipase activity Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. hp0009lx5z Reduced leukocyte acid lipase activity 2017-06-29 11:32:13+00:00 Samples from patients with Wolman Disease display extremely low or unmeasurable levels of lysosomal acid lipase (LAL) activity. Samples from patients with cholesteryl ester storage disease can display residual activities in the 5 to ten percent range. peter owl:Class HP:0010744 biolink:NamedThing Absent metatarsal bone A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. hp0009lx5z Absent long bone of foot|Aplasia of the metatarsal bones doelkens 2010-04-22T04:30:18Z UMLS:C4021232 human_phenotype owl:Class HP:0001964 biolink:NamedThing Aplasia/Hypoplasia of metatarsal bones Absence or underdevelopment of the metatarsal bones. hp0009lx5z Absent/small long bone of foot|Absent/hypoplastic metatarsals|Absent or hypoplastic metatarsal|Absent/underdeveloped long bone of foot|Absent/hypoplastic metacarpals|Aplastic/hypoplastic metatarsals UMLS:C1860182 human_phenotype owl:Class HP:0030264 biolink:NamedThing Webbed penis Ventral skinfold extending from penis to scrotum. hp0009lx5z Webbed penis The distal limit of the skinfold can be located on the penile shaft or the tip of the penis. SNOMEDCT_US:253852007|UMLS:C0431670 owl:Class HP:0000953 biolink:NamedThing Hyperpigmentation of the skin A darkening of the skin related to an increase in melanin production and deposition. hp0009lx5z Patchy darkened skin|Increased skin pigmentation|Melanoderma|Melanodermia|Skin hyperpigmentation|Hyperpigmented lesion|Cutaneous hyperpigmentation HP:0007527 SNOMEDCT_US:4830009|UMLS:C0162834|MSH:D017495|SNOMEDCT_US:49765009 owl:Class HP:0100338 biolink:NamedThing Non-midline cleft palate hp0009lx5z Paramedian cleft palate doelkens 2010-10-13T04:16:40Z UMLS:C4022142 human_phenotype owl:Class HP:0040306 biolink:NamedThing Decreased male libido Reduced desire for sexual activity on the part of a male. hp0009lx5z owl:Class HP:0004043 biolink:NamedThing Lytic defects of ulnar metaphysis hp0009lx5z UMLS:C4025421 human_phenotype owl:Class HP:0002930 biolink:NamedThing Impaired sensitivity to thyroid hormone Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone. hp0009lx5z Elevated serum levels of free thyroid hormone with nonsuppressed TSH|Thyroid hormone resistance|End-organ unresponsiveness to thyroid hormone|Resistance to thyroid hormone|Thyroid hormone receptor defect Impaired sensitivity to thyroid hormone may be accompanied by goiter and no clear symptoms and signs of thyrotoxicosis. The etiologies of this feature include defects in the thyroid hormone receptor, reduced cellular access of the biologically active thyroid hormone, T3 related to defects of thyroid hormone cell membrane transport, and a defect reducing the intracellular metabolism generating T3 from T4. HP:0008262|HP:0008215|HP:0008243 SNOMEDCT_US:50375007|SNOMEDCT_US:237559000|UMLS:C2940786|SNOMEDCT_US:111567006|SNOMEDCT_US:237560005|MSH:D018382 human_phenotype owl:Class HP:0410348 biolink:NamedThing Increased urinary multiantennary sialylated oligosaccharide An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine. hp0009lx5z Increase concentration of multiantennary sialylated oligosaccharides in urine owl:Class HP:0002323 biolink:NamedThing Anencephaly Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. hp0009lx5z Foetal anencephaly|Embryonic anencephaly|Fetal anencephaly SNOMEDCT_US:89369001|MSH:D000757|UMLS:C0002902|Fyler:4332 owl:Class HP:0031849 biolink:NamedThing Sleep-wake inversion A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night. hp0009lx5z 2018-05-05 15:51:56+00:00 peter owl:Class HP:0012144 biolink:NamedThing Abnormal monocyte morphology Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. hp0009lx5z peter 2012-09-16T08:21:37Z UMLS:C4023025 owl:Class HP:0033984 biolink:NamedThing Increased urinary 8-oxo-7,8-dihydroguanosine level An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine. hp0009lx5z Increased urine 8-oxo-GMP|Increased urinary 8-oxo-7,8-dihydroguanosine|Increased urine 8-oxo-7,8-dihydroguanosine|Increased urinary 8-oxo-Gsn level 2021-07-15 11:47:35+00:00 peter owl:Class HP:0033161 biolink:NamedThing Abnormal urinary purine level Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines. hp0009lx5z 2020-09-24 09:13:18+00:00 peter owl:Class HP:0100222 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe. hp0009lx5z Speckled calcifications in middle part of the innermost bone of the little toe|Speckled calcifications in end part of the innermost bone of the pinkie toe|Speckled calcifications in middle part of the innermost bone of the pinky toe doelkens 2010-06-24T05:04:00Z UMLS:C4022199 human_phenotype owl:Class HP:0100086 biolink:NamedThing Stippling of the epiphyses of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe. hp0009lx5z Speckled calcifications in the end part of the little toe bone|Speckled calcifications in the end part of the pinky toe bone|Speckled calcifications in the end part of the pinkie toe bone doelkens 2010-06-24T10:00:02Z UMLS:C4022335 human_phenotype owl:Class HP:0032184 biolink:NamedThing Increased proportion of memory T cells An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood. hp0009lx5z Increased proportion of CD4+CD29+ cells 2019-01-12 14:37:08+00:00 peter owl:Class HP:0020105 biolink:NamedThing Severe toxoplasmosis Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs). hp0009lx5z 2019-04-08 19:22:59+00:00 robinp owl:Class HP:0004937 biolink:NamedThing Pulmonary artery aneurysm An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. hp0009lx5z SNOMEDCT_US:194892009|UMLS:C0155676 human_phenotype owl:Class HP:0009521 biolink:NamedThing Small epiphysis of the middle phalanx of the 2nd finger hp0009lx5z Small end part of the innermost long bone of index finger doelkens 2009-01-16T01:12:17Z UMLS:C4024312 human_phenotype owl:Class HP:0031549 biolink:NamedThing Lymphocytoma cutis Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis. hp0009lx5z Spiegler-Fendt sarcoid|Skin pseudolymphoma 2017-09-24 23:14:34+00:00 peter owl:Class HP:0032024 biolink:NamedThing Ileal ulcer An erosion of the mucous membrane in a portion of the ileum. hp0009lx5z 2018-09-01 14:06:31+00:00 peter owl:Class HP:0003228 biolink:NamedThing Hypernatremia An abnormally increased sodium concentration in the blood. hp0009lx5z High blood sodium levels MSH:D006955|SNOMEDCT_US:39355002|UMLS:C0020488|SNOMEDCT_US:286926003 human_phenotype owl:Class HP:0008683 biolink:NamedThing Enlarged labia minora Increase in size of the folds of skin between the outer labia. hp0009lx5z Labia minora hypertrophy|Hypertrophic labia minora HP:0008694|HP:0008662 UMLS:C1849358 owl:Class HP:0000065 biolink:NamedThing Labial hypertrophy hp0009lx5z Enlargement of the vaginal lips|Enlarged vaginal lips|Enlargement of the labia SNOMEDCT_US:16924008|UMLS:C0404531 owl:Class HP:0025348 biolink:NamedThing Abnormality of the corneal limbus An anomaly of the margin of the cornea overlapped by the sclera. hp0009lx5z 2017-02-12 23:58:19+00:00 HPO:probinson owl:Class HP:0001085 biolink:NamedThing Papilledema Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. hp0009lx5z The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc. HP:0001130 UMLS:C0030353|MSH:D010211|SNOMEDCT_US:73221001|SNOMEDCT_US:423341008|SNOMEDCT_US:248487006 human_phenotype owl:Class HP:0030244 biolink:NamedThing Maternal fever in pregnancy The occurence of an elevated body temperature of the mother during pregnancy. hp0009lx5z Maternal fever during pregnancy There is evidence to suugest that maternal fever during pregnancy may negatively affect offspring healthneural tube defects, congenital heart defects, and oral clefts, in which meta-analyses suggested between a 1.5- and nearly 3-fold increased risk with fever exposure in the first trimester. UMLS:C4021041 owl:Class HP:0100661 biolink:NamedThing Trigeminal neuralgia A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected. hp0009lx5z Tic douloureux doelkens 2010-12-30T11:53:47Z SNOMEDCT_US:31681005|MSH:D014277|UMLS:C0040997 owl:Class HP:0033345 biolink:NamedThing Neuralgia Pain (An unpleasant sensory and emotional experience) along the course of a nerve. hp0009lx5z 2020-11-30 17:57:46+00:00 peter owl:Class HP:0004260 biolink:NamedThing Large hamate bone hp0009lx5z Large unciform bone UMLS:C4025385 human_phenotype owl:Class HP:0006715 biolink:NamedThing Glomus tympanicum paraganglioma hp0009lx5z Tympanic nerve tumour|Tympanic nerve tumours|Tympanic nerve tumors|Tympanic nerve tumor HP:0002892 UMLS:C1866555 human_phenotype owl:Class HP:0032986 biolink:NamedThing Smoker-inclusions in alveolar macrophages In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits. hp0009lx5z peter owl:Class HP:0032913 biolink:NamedThing Focal aware pedal automatism seizure A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. hp0009lx5z peter owl:Class HP:0032901 biolink:NamedThing Focal pedal automatism seizure A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. hp0009lx5z These may include pacing, walking, or running. peter owl:Class HP:0032582 biolink:NamedThing Renal interstitial foam cells Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. hp0009lx5z FCs are the outcome of cellular lipid accumulation due to lipid metabolic dysfunction. Normally, lipid is in a dynamic equilibrium outside and inside of the cell. When factors facilitate cell lipid intake or reduce its efflux, it subsequently resulted in cellular lipid accumulation and FC formation. Renal interstitial FCs are commonly encountered in Alport syndrome and are occasionally observed in various other kidney diseases, including idiopathic membranous nephropathy (IMN), IgA nephropathy (IgAN), focal and segmental glomerulosclerosis (FSGS), and membranoproliferative glomerulonephritis. peter owl:Class HP:0004955 biolink:NamedThing Generalized arterial tortuosity Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. hp0009lx5z Generalized twisted arteries|Generalised arterial tortuosity|Generalised twisted arteries|Arterial tortuosity, generalised|Arterial tortuosity, general|Arterial tortuosity, generalized UMLS:C3279191|UMLS:C1836651 human_phenotype owl:Class HP:0025497 biolink:NamedThing Coronary artery spasm A brief and sudden narrowing of a coronary artery. hp0009lx5z Coronary artery vasospasm 2017-05-14 19:58:57+00:00 Severe chest pain, usually without physical effort and with a concurrent ECG showing transient ST elevation, is the key for the diagnosis of coronary artery spasm. HPO:probinson owl:Class HP:0025496 biolink:NamedThing Abnormal coronary artery physiology Any anomaly of the function of a coronary artery. hp0009lx5z 2017-05-14 19:58:27+00:00 HPO:probinson owl:Class HP:0003691 biolink:NamedThing Scapular winging Abnormal protrusion of the scapula away from the surface of the back. hp0009lx5z Winged scapulas|Winged scapulae|Winged shoulder blade|Scapular weakness|Scapula alata The serratus anterior muscle is responsible for controlling the scapula (shoulder blade), and weakness of this muscle (which may be caused by damage to the long thoracic nerve) can manifest as scular winging. HP:0000783 MEDDRA:10067628|UMLS:C0240953|SNOMEDCT_US:17211005|UMLS:C4072849 human_phenotype owl:Class HP:0008392 biolink:NamedThing Subungual hyperkeratosis A thickening of the stratum corneum in the region beneath the nails. hp0009lx5z Thickened, discolored skin under nail|Thickened, discoloured skin under nail SNOMEDCT_US:10165000|UMLS:C0038605 human_phenotype owl:Class HP:0001996 biolink:NamedThing Chronic metabolic acidosis Longstanding metabolic acidosis. hp0009lx5z Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function. UMLS:C0740749 human_phenotype owl:Class HP:0001406 biolink:NamedThing Intrahepatic cholestasis Impairment of bile flow due to obstruction in the small bile ducts within the liver. hp0009lx5z Impaired release of bile from liver SNOMEDCT_US:4637005|UMLS:C0008372|MSH:D002780 human_phenotype owl:Class HP:0001070 biolink:NamedThing Mottled pigmentation Patchy and irregular skin pigmentation. hp0009lx5z Stippled pigmentation|Mottled skin colouring|Mottled skin coloring HP:0007584 UMLS:C0860439|UMLS:C4020879 human_phenotype owl:Class HP:0410265 biolink:NamedThing Supraglottic hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords. hp0009lx5z 2018-10-30 01:49:01+00:00 owl:Class HP:0003375 biolink:NamedThing Narrow greater sciatic notch A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. hp0009lx5z Small sacrosciatic notches|Narrow sacroiliac notch|Narrowed sacrosciatic notch|Narrow sacrosciatic notch|Narrowed greater sciatic notch|Small sacrosciatic notch|Narrow sciatic notches|Narrow greater sacrosciatic notches The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch. HP:0008803|HP:0008840|HP:0008813|HP:0008842|HP:0008805 SNOMEDCT_US:289457006|UMLS:C0566888 human_phenotype owl:Class HP:0006112 biolink:NamedThing Expanded phalanges with widened medullary cavities hp0009lx5z UMLS:C1969287 human_phenotype owl:Class HP:0033126 biolink:NamedThing Cutaneous necrosis Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin. hp0009lx5z Skin necrosis 2020-09-05 13:12:04+00:00 peter owl:Class HP:0011321 biolink:NamedThing Left unilambdoid synostosis Premature synostosis of only the left lambdoid suture. hp0009lx5z peter 2012-02-25T01:13:46Z UMLS:C4023415 human_phenotype owl:Class HP:0000897 biolink:NamedThing Rachitic rosary A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. hp0009lx5z Nutritional rickets (NR), secondary to vitamin D deficiency and/or dietary calcium deficiency, is characterized by a range of features including 1) hypocalcemic seizures and tetanic spasms; 2) life-threatening hypocalcemic cardiomyopathy; 3) bone pain and muscle weakness; 4) limb and pelvic deformities; 5) failure to thrive; 6) developmental delay; and 7) dental anomalies. Rickets can additionally be caused by genetic defects such as a defect in the vitamin D receptor gene. SNOMEDCT_US:15214001|SNOMEDCT_US:249702007 owl:Class HP:0550003 biolink:NamedThing Proximal scleroderma Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk. hp0009lx5z 2017-08-02 22:02:40+00:00 owl:Class HP:0100324 biolink:NamedThing Scleroderma A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. hp0009lx5z Pseudoscleroderma|Progressive systemic scleroderma A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as dermatomyositis, Werner's syndrome, porphyria, muscle glycogenesis, primary systemic amyloidosis, melorheostosis, and malignancy including the carcinoid syndrome. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease. doelkens 2010-08-10T04:14:42Z HP:0001594|HP:0007426 MSH:D012594|UMLS:C0011644|SNOMEDCT_US:89155008|UMLS:C1274865|SNOMEDCT_US:403524003 human_phenotype owl:Class HP:0009892 biolink:NamedThing Anotia Complete absence of any auricular structures. hp0009lx5z Congenital absence of external ear|Absent ear|Absent ears Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression. peter 2009-04-30T06:53:41Z MSH:D065817|UMLS:C0702139|UMLS:C1408788|SNOMEDCT_US:57436000 human_phenotype owl:Class HP:0033591 biolink:NamedThing Staghorn calculus Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. hp0009lx5z Staghorn renal stone 2021-01-28 02:08:09+00:00 peter owl:Class HP:0010714 biolink:NamedThing 2-4 toe syndactyly Syndactyly with fusion of toes two to four. hp0009lx5z Syndactyly toes 2-4|Syndactyly of toes 2, 3 and 4|Webbed 2nd-4th toes sdoelken 2010-03-26T05:22:26Z HP:0005708|HP:0005642 UMLS:C4021234 human_phenotype owl:Class HP:0031194 biolink:NamedThing Increased density of left ventricular trabeculae An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae). hp0009lx5z 2017-06-24 14:13:54+00:00 peter owl:Class HP:0031192 biolink:NamedThing Abnormal morphology of left ventricular trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae). hp0009lx5z 2017-06-24 14:10:09+00:00 peter owl:Class HP:0007554 biolink:NamedThing Confetti hypopigmentation pattern of lower leg skin hp0009lx5z Confetti hypopigmentation pattern of lower leg skin UMLS:C4024847 human_phenotype owl:Class HP:0003403 biolink:NamedThing EMG: decremental response of compound muscle action potential to repetitive nerve stimulation A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. hp0009lx5z EMG: decrement at repetitive stimulation|EMG: decremental response of CMAP to repetitive nerve stimulation The result of this test is abnormal if progressively fewer muscle fibers respond to nerve stimulation during a train of stimuli, thereby yielding a decrementing pattern in the CMAP. HP:0003478|HP:0003430 UMLS:C4020841|UMLS:C4021728 owl:Class HP:0100285 biolink:NamedThing EMG: impaired neuromuscular transmission An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). hp0009lx5z doelkens 2010-08-10T01:02:59Z UMLS:C4022168 owl:Class HP:0033641 biolink:NamedThing Aortic valve leaflet calcification Deposition of calcium salts in the leaflets (cusps) of the aortic valve. hp0009lx5z Aortic valve cusp calcification|Aortic cusp calcification 2021-02-03 13:39:04+00:00 peter owl:Class HP:0500210 biolink:NamedThing Increased CSF methionine concentration Abnormally increased levels of methionine in cerebrospinal fluid. hp0009lx5z High methionine levels in cerebrospinal fluid 2019-02-25 18:58:44+00:00 owl:Class HP:0031851 biolink:NamedThing Reduced hematocrit A reduction below the normal ratio of the volume of red blood cells to the total volume of blood. hp0009lx5z Reduced Hct|Low hematocrit 2018-05-05 15:59:55+00:00 peter owl:Class HP:0011721 biolink:NamedThing Infracardiac total anomalous pulmonary venous connection Type 3 total anomalous pulmonary venous connection. hp0009lx5z Infracardiac total anomalous pulmonary venous connexion|Type 3 total anomalous pulmonary venous connection peter 2012-04-11T08:52:28Z UMLS:C4021129 human_phenotype owl:Class HP:0030939 biolink:NamedThing Palpebral thickening An increased thickness of the eyelid not related to acute inflammation. hp0009lx5z Thick eyelids|Eyelid thickening|Thickened but nonswollen eyelids|Thickened eyelid 2016-12-05 13:46:21+00:00 robinp owl:Class HP:0007925 biolink:NamedThing Lacrimal duct aplasia A congenital defect resulting in absence of the lacrimal duct. hp0009lx5z Absent tear duct UMLS:C4024773 human_phenotype owl:Class HP:0011481 biolink:NamedThing Abnormal lacrimal duct morphology An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. hp0009lx5z Abnormality of the lacrimal duct|Abnormality of the lacrimal canaliculus peter 2012-04-01T09:11:55Z UMLS:C1858567 human_phenotype owl:Class HP:0012855 biolink:NamedThing Scrotal hyperpigmentation Increased pigmentation (skin color) of the scrotum. hp0009lx5z Hyperpigmented scrotum|Increased pigmentation in scrotum|Hyperpigmentation of the scrotum This finding may be normal variation but can also be seen with congenital adrenal hyperplasia and other causes of excessive adrenocorticotrophic hormone (ACTH) stimulation. hecht 2014-06-08T11:03:38Z UMLS:C4021062 human_phenotype owl:Class HP:0025123 biolink:NamedThing White streaks/specks on enamel. Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks. hp0009lx5z 2016-11-14 01:47:26+00:00 HPO:probinson owl:Class HP:0011073 biolink:NamedThing Abnormality of dental color A developmental defect of tooth color. hp0009lx5z Abnormality of tooth color|Abnormality of dental shade|Abnormality of dental colour|Abnormality of dental color|Abnormality of tooth colour|Abnormality of tooth shade peter 2011-03-10T05:20:03Z UMLS:C4023551 human_phenotype owl:Class HP:0002645 biolink:NamedThing Wormian bones The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. hp0009lx5z Intra sutural bones|Islands of bone within cranial sutures|Intrasutural bones|Extra bones within cranial sutures Irregular, solated bones in the lambdoidal suture or at the fontanelles. SNOMEDCT_US:113194005|UMLS:C0222716 human_phenotype owl:Class HP:0025494 biolink:NamedThing Coated aorta Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans hp0009lx5z 2017-05-14 19:37:34+00:00 This feature is characteristic of Erdheim Chester disease. HPO:probinson owl:Class HP:0040301 biolink:NamedThing Increased urinary glycerol An increased concentration of glycerol in the urine. hp0009lx5z owl:Class HP:0410018 biolink:NamedThing Recurrent ear infections Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections. hp0009lx5z Recurrent ear infections|Frequent ear infections owl:Class HP:0000484 biolink:NamedThing Hyperopic astigmatism A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. hp0009lx5z SNOMEDCT_US:449734001|UMLS:C1847524 human_phenotype owl:Class HP:0009563 biolink:NamedThing Distal/middle symphalangism of 2nd finger Fusion of the terminal/distal and middle phalanges of the 2nd finger. hp0009lx5z Fused outermost and middle index finger bones|Symphalangism of the distal and middle phalanges of the 2nd finger doelkens 2009-01-28T04:16:02Z HP:0009578|HP:0009567 UMLS:C4021440 human_phenotype owl:Class HP:0033772 biolink:NamedThing Abnormal RV/TLC ratio Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. hp0009lx5z 2021-05-01 15:42:55+00:00 peter owl:Class HP:0011439 biolink:NamedThing Anesthetic-induced rhabdomylosis Rhabdomyolysis induced by anesthesia. hp0009lx5z peter 2012-03-18T12:19:01Z UMLS:C4023356 human_phenotype owl:Class HP:0003201 biolink:NamedThing Rhabdomyolysis Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. hp0009lx5z Breakdown of skeletal muscle SNOMEDCT_US:89010004|SNOMEDCT_US:240131006|MSH:D012206|UMLS:C0035410 human_phenotype owl:Class HP:0030103 biolink:NamedThing Abnormal muscle fiber beta sarcoglycan Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. hp0009lx5z Abnormal muscle fibre beta sarcoglycan UMLS:C4022642 owl:Class HP:0031986 biolink:NamedThing Polyminimyoclonus Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant. hp0009lx5z 2018-07-09 01:38:21+00:00 peter owl:Class HP:0033170 biolink:NamedThing Abnormal skinfold thickness measurement Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. hp0009lx5z 2020-09-24 10:24:44+00:00 peter owl:Class HP:0011698 biolink:NamedThing Supraventricular tachycardia with a manifest accessory pathway on the septum hp0009lx5z peter 2012-04-10T10:59:45Z UMLS:C4023224 human_phenotype owl:Class HP:0004213 biolink:NamedThing Abnormal 5th finger phalanx morphology Abnormality of the phalanges of the 5th (little) finger. hp0009lx5z Abnormality of the phalanges of the 5th finger|Abnormality of the little finger bone|Abnormality of the pinky finger bone|Abnormality of the pinkie finger bone UMLS:C4025408 human_phenotype owl:Class HP:0033939 biolink:NamedThing Renal arteriole intima/media liquefactive necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. hp0009lx5z Liquefactive necrosis of the renal arteriolar intima/media 2021-06-24 01:44:32+00:00 peter owl:Class HP:0000629 biolink:NamedThing Periorbital fullness Increase in periorbital soft tissue. hp0009lx5z Puffiness around eye|Fullness around the eyes|Periorbital swelling|Puffy eyes|Periorbital puffiness|Swelling around the eyes UMLS:C1858036 human_phenotype owl:Class HP:0007346 biolink:NamedThing Subcortical white matter calcifications hp0009lx5z ORCID:0000-0002-5316-1399 UMLS:C1851430 human_phenotype owl:Class HP:0009713 biolink:NamedThing Spinal hemangioblastoma A hemangioblastoma of the spinal cord. hp0009lx5z peter 2009-01-30T11:24:31Z UMLS:C4024223|NCIT:C3801 human_phenotype owl:Class HP:0007340 biolink:NamedThing Lower limb muscle weakness Weakness of the muscles of the legs. hp0009lx5z Lower extremity weakness|Leg weakness|Lower limb weakness|Lower limb muscle weakness|Muscle weakness in lower limbs Inability to perform rapid, alternating movements. HP:0009047|HP:0002477|HP:0002065 UMLS:C0427068|UMLS:C1836296|SNOMEDCT_US:249945007 human_phenotype owl:Class HP:0009544 biolink:NamedThing Abnormality of the proximal phalanx of the 2nd finger hp0009lx5z Abnormal innermost index finger bone|Abnormality of the proximal 2nd finger phalanx doelkens 2009-01-21T10:17:15Z HP:0004119 UMLS:C4021447 human_phenotype owl:Class HP:0100025 biolink:NamedThing Overfriendliness A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction. hp0009lx5z Overfriendliness doelkens 2010-05-28T05:42:06Z UMLS:C4022386 human_phenotype owl:Class HP:0012433 biolink:NamedThing Abnormal social behavior An abnormality of actions or reactions of a person taking place during interactions with others. hp0009lx5z Abnormal social behaviour|Abnormal social behavior|Abnormal social interactions peter 2013-11-23T08:37:01Z UMLS:C4020726|UMLS:C4021087 human_phenotype owl:Class HP:0011378 biolink:NamedThing Hypoplasia of the vestibule of the inner ear Underdevelopment of the vestibule of the inner ear. hp0009lx5z peter 2012-03-09T07:06:20Z UMLS:C4023388 human_phenotype owl:Class HP:0011376 biolink:NamedThing Morphological abnormality of the vestibule of the inner ear A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. hp0009lx5z Vestibular abnormality The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration and two otolith organs that are sensitive to linear acceleration. peter 2012-03-07T08:35:08Z UMLS:C0542259 human_phenotype owl:Class HP:0033197 biolink:NamedThing Hepatic lobular inflammation Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes). hp0009lx5z 2020-10-11 12:10:39+00:00 Each liver lobule is hexagonal in cross section and is centered on the central vein (teh central veins are branches of the hepatic vein). Within lobules, hepatocytes are arranged into hepatic cords separated by adjacent sinusoids. peter owl:Class HP:0003713 biolink:NamedThing Muscle fiber necrosis Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. hp0009lx5z Muscle fibre necrosis HP:0003726 UMLS:C1850848 human_phenotype owl:Class HP:0032068 biolink:NamedThing Increased urinary mucus An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis. hp0009lx5z 2018-09-30 14:35:24+00:00 peter owl:Class HP:0010747 biolink:NamedThing Medial flaring of the eyebrow An abnormal distribution of eyebrow hair growth in the medial direction. hp0009lx5z sdoelken 2010-04-23T09:29:58Z UMLS:C1844562 human_phenotype owl:Class HP:0032922 biolink:NamedThing Focal impaired awareness perseverative automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset. hp0009lx5z peter owl:Class HP:0032902 biolink:NamedThing Focal perseverative automatism seizure A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset. hp0009lx5z peter owl:Class HP:0020048 biolink:NamedThing Reduced bone-marrow pro-B cell count A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19. hp0009lx5z 2017-12-22 14:57:04+00:00 robinp owl:Class HP:0005561 biolink:NamedThing Abnormality of bone marrow cell morphology An anomaly of the form or number of cells in the bone marrow. hp0009lx5z Anomaly of the bone marrow cells|Bone marrow disease peter 2008-03-27T10:46:00Z MSH:D001855|UMLS:C0005956|UMLS:C4021634|SNOMEDCT_US:127035006 owl:Class HP:0032861 biolink:NamedThing Focal non-convulsive status epilepticus with impairment of consciousness Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired. hp0009lx5z Focal non-convulsive status epilepticus with impairment of awareness Semiology may include autonomic, sensory, visual, olfactory, gustatory, emotional/psychic/experiential, or cognitive symptoms, depending on the fluctuation of consciousness. In 2015, the ILAE Task Force on Classification of Status Epilepticus proposed that time t1 (indicating the time that emergency treatment should be started because the seizure is unlikely to terminate spontaneously) is 10 minutes and t2 (the time at which long-term consequences of the seizure may be expected) is at least 60 minutes for focal status epilepticus with impaired consciousness. peter owl:Class HP:0003920 biolink:NamedThing Sloping humeral metaphysis hp0009lx5z Sloping metaphysis of long bone of upper arm UMLS:C4025507 human_phenotype owl:Class HP:0011478 biolink:NamedThing True anophthalmia Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. hp0009lx5z Complete anophthalmia|Total anophthalmia|Completely missing eyeball True anophthalmia implies an early failure of eye development. peter 2012-04-01T12:19:11Z UMLS:C2675590 human_phenotype owl:Class HP:0000528 biolink:NamedThing Anophthalmia Absence of the globe or eyeball. hp0009lx5z Clinical anophthalmia, unilateral/bilateral|No globe of eye|Absence of eyeballs|Absence of globes of eyes|No eyeball|Failure of development of eyeball|Anophthalmia, clinical|Ocular absence|Missing globe of eye|Missing eyeball HP:0007664|HP:0001485 SNOMEDCT_US:7183006|Fyler:4864|SNOMEDCT_US:204099004|MSH:D000853|UMLS:C0003119 human_phenotype owl:Class HP:0032854 biolink:NamedThing Focal aware hemifacial clonic seizure Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout. hp0009lx5z peter owl:Class HP:0033193 biolink:NamedThing Ballooning hepatocyte degeneration Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. hp0009lx5z Ballooning degeneration of hepatocytes 2020-10-10 15:47:08+00:00 Mallory-Denk bodies are inclusions found within the cytoplasm of ballooned hepatocytes that are composed of cytokeratin filaments, they have a twisted-rope appearance. peter owl:Class HP:0033556 biolink:NamedThing Anti-nucleoporin 62 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62. hp0009lx5z Anti-p62 antibody positivity 2021-01-23 11:50:09+00:00 Anti-nucleoporin 62 antibody is an antibody directed against components of the nuclear membrane and is typically found in primary biliary cirrhosis. peter owl:Class HP:0003944 biolink:NamedThing Narrow joint spaces of the elbow hp0009lx5z Narrow joint spaces of the elbow UMLS:C4025490 human_phenotype owl:Class HP:0003943 biolink:NamedThing Abnormality of the joint spaces of the elbow hp0009lx5z Abnormality of the joint spaces of the elbow UMLS:C4025491 human_phenotype owl:Class HP:0007204 biolink:NamedThing Diffuse white matter abnormalities hp0009lx5z This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging. ORCID:0000-0002-5316-1399 UMLS:C4024923 human_phenotype owl:Class HP:0009216 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 4th finger A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. hp0009lx5z Cone-shaped end part of the middle bone of the ring finger doelkens 2009-01-05T05:23:59Z UMLS:C4024525 human_phenotype owl:Class HP:0030183 biolink:NamedThing Impaired visually enhanced vestibulo-ocular reflex The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR). hp0009lx5z VVOR impairment|Visually enhanced vestibulo-ocular reflex impairment UMLS:C4021047 owl:Class HP:0025197 biolink:NamedThing Inclusion body fibromatosis A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration. hp0009lx5z Infantile digital fibroma|Digital fibrous tumor of Reye|Infantile digital fibromatosis|Digital fibrous tumour of Reye 2016-12-05 11:28:28+00:00 HPO:probinson owl:Class HP:0033014 biolink:NamedThing Decreased salivary cortisol level Abnormally reduced concentration of cortisol in saliva. hp0009lx5z Literature suggests that saliva may provide a more sensitive measure of cortisol than serum or plasma. peter owl:Class HP:0033013 biolink:NamedThing Abnormal salivary cortisol level Any deviation from the normal concentration of cortisol in saliva. hp0009lx5z Literature suggests that saliva may provide a more sensitive measure of cortisol than serum or plasma. peter owl:Class HP:0006099 biolink:NamedThing Metacarpophalangeal joint hyperextensibility Increased mobility of one ore more metacarpophalangeal joint. hp0009lx5z UMLS:C4025092 human_phenotype owl:Class HP:0030117 biolink:NamedThing Absent muscle fiber emerin Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy. hp0009lx5z Absent muscle fibre emerin UMLS:C4022628 owl:Class HP:0030116 biolink:NamedThing Abnormal muscle fiber emerin A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue. hp0009lx5z Abnormal muscle fibre emerin UMLS:C4022629 owl:Class HP:0007807 biolink:NamedThing Optic nerve compression hp0009lx5z HP:0008495 UMLS:C0271344|SNOMEDCT_US:72983001 human_phenotype owl:Class HP:0011068 biolink:NamedThing Odontoma The presence of an odontoma. hp0009lx5z Odontomas MPATH defines odontoma as a hamartomatous malformation of odontogenic tissue. It may vary from nondescript masses of dental tissue (complex odontoma) to multiple well-formed teeth (compound odontoma). peter 2011-03-10T02:40:52Z UMLS:C0028882|SNOMEDCT_US:79074005|MSH:D009810 human_phenotype owl:Class HP:0031594 biolink:NamedThing PR segment depression A reduction in voltage of the PR segment below baseline. hp0009lx5z PTa depression|PR interval depression 2017-10-15 13:31:27+00:00 The differential diagnosis includes normal variant, pericarditis or atrial infarct. peter owl:Class HP:0031596 biolink:NamedThing Abnormal PR segment An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric. hp0009lx5z 2017-10-15 13:35:56+00:00 The PR interval begins at the onset of the P wave and ends at the onset of the QRS complex. This interval reflects the time the impulse takes to reach the ventricles from the sinus node. In contrast, the PR segment begins at the endpoint of the P wave and ends at the onset of the QRS complex. It reflects the conduction from the atrioventricular node, down the bundle of His and through the bundle branches to the muscle. peter owl:Class HP:0030572 biolink:NamedThing Pinhole visual acuity 0.4 LogMAR hp0009lx5z UMLS:C4073045 owl:Class HP:0030535 biolink:NamedThing Abnormal pinhole visual acuity test hp0009lx5z UMLS:C4073009 owl:Class HP:0008281 biolink:NamedThing Acute hyperammonemia An increased concentration of ammonia in the blood with sudden onset. hp0009lx5z Hyperammonemia, acute UMLS:C1859506 human_phenotype owl:Class HP:0001987 biolink:NamedThing Hyperammonemia An increased concentration of ammonia in the blood. hp0009lx5z High blood ammonia levels HP:0008308|HP:0008334 MSH:D022124|UMLS:C0220994|SNOMEDCT_US:9360008 human_phenotype owl:Class HP:0009979 biolink:NamedThing Complete duplication of the middle phalanx of the 4th finger Complete duplication of the middle phalanx of ring finger. hp0009lx5z Complete duplication of the middle bone of the ring finger doelkens 2009-05-26T02:20:23Z UMLS:C4024132 human_phenotype owl:Class HP:0000148 biolink:NamedThing Vaginal atresia Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. hp0009lx5z Abnormally closed or absent vagina UMLS:C1321884|SNOMEDCT_US:87380008 human_phenotype owl:Class HP:0002688 biolink:NamedThing Absent frontal sinuses Aplasia of frontal sinus. hp0009lx5z Missing frontal sinus|Aplasia of frontal sinus|Aplasia sinus frontalis|Absent frontal sinus|Absence of frontal sinuses HP:0005452|HP:0005475 UMLS:C4280559|UMLS:C1855669 human_phenotype owl:Class HP:0100885 biolink:NamedThing Lateral venous anomaly Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life. hp0009lx5z Vein of servelle|Lateral marginal vein of Servelle doelkens 2011-12-01T03:16:02Z UMLS:C4020945 human_phenotype owl:Class HP:0001015 biolink:NamedThing Prominent superficial veins A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal. hp0009lx5z Prominent veins See Figure 4 of PMID:24456199 UMLS:C1837785 human_phenotype owl:Class HP:0006441 biolink:NamedThing Lateral humeral condyle aplasia hp0009lx5z UMLS:C1833878 human_phenotype owl:Class HP:0009222 biolink:NamedThing Small epiphysis of the middle phalanx of the 4th finger Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. hp0009lx5z Small end part of the middle bone of the ring finger doelkens 2009-01-05T05:23:59Z UMLS:C4024519 human_phenotype owl:Class HP:0003811 biolink:NamedThing Neonatal death Death within the first 28 days of life. hp0009lx5z Neonatal lethal HP:0003824|HP:0003820 MSH:D066087|SNOMEDCT_US:276506001|UMLS:C0410916 human_phenotype owl:Class HP:0011420 biolink:NamedThing Age of death The age group when the cessation of life happens. hp0009lx5z UMLS:C1546180 owl:Class HP:0033017 biolink:NamedThing Transient decreased circulating IgD A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation. hp0009lx5z Transient decreaseed IgD in blood peter owl:Class HP:0006955 biolink:NamedThing Olivopontocerebellar hypoplasia Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. hp0009lx5z HP:0007168 UMLS:C1859341 human_phenotype owl:Class HP:0012110 biolink:NamedThing Hypoplasia of the pons Underdevelopment of the pons. hp0009lx5z Pontine hypoplasia peter 2012-09-10T05:35:36Z UMLS:C1848529 human_phenotype owl:Class HP:0009891 biolink:NamedThing Underdeveloped supraorbital ridges Flatness of the supraorbital portion of the frontal bones. hp0009lx5z Flat supraorbital ridge|Shallow supraorbital ridge|Flattened bony protrusion above eyes|Depressed supraorbital ridge|Flat supraorbital margins|Hypoplastic supraorbital ridges|Shallow orbital ridges|Underdeveloped brows|Hypoplasia of the supraorbital ridges|Hypoplasia of supraorbital margins|Depressed supraorbital margins peter 2009-04-30T06:50:09Z HP:0004672|HP:0005337|HP:0004667 UMLS:C4020777|UMLS:C1861869 human_phenotype owl:Class HP:0100538 biolink:NamedThing Abnormality of the supraorbital ridges An anomaly of the supraorbital portion of the frontal bones. hp0009lx5z Deformity of the supraorbital ridges|Deformity of the supraorbital margins|Malformation of the supraorbital margins|Malformation of the supraorbital ridges|Abnormality of the brow of the face doelkens 2010-12-20T06:05:56Z UMLS:C4022027 human_phenotype owl:Class HP:0031827 biolink:NamedThing Absent abdominal reflex Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus. hp0009lx5z Abdominal reflex absent 2018-05-02 01:07:23+00:00 A normal abdominal reflex can be observed as a brisk contraction of the umbilicus toward the quadrant that is stimulated. An absent abdominal reflex can point to neurological disease but may also be absent due to other causes such as obesity. peter owl:Class HP:0031954 biolink:NamedThing Dystonic gait Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients. hp0009lx5z 2018-07-07 13:48:21+00:00 peter owl:Class HP:0006751 biolink:NamedThing Paraspinal neurofibromas hp0009lx5z UMLS:C4024985 human_phenotype owl:Class HP:0033937 biolink:NamedThing Cortical radial artery intima/media coagulative necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. hp0009lx5z 2021-06-24 01:41:26+00:00 peter owl:Class HP:0033935 biolink:NamedThing Cortical radial artery intima/media necrosis Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. hp0009lx5z Necrosis within interlobular arterial intima/media 2021-06-24 01:36:18+00:00 peter owl:Class HP:0002157 biolink:NamedThing Azotemia An increased concentration of nitrogen compounds in the blood. hp0009lx5z Azotaemia Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. MSH:D053099|SNOMEDCT_US:445009001|UMLS:C0242528 human_phenotype owl:Class HP:0005926 biolink:NamedThing Abnormality of hand cortical bone An anomaly of the outer shell (cortex) of a hand bone. hp0009lx5z Abnormality of the cortex of hand bones peter 2008-03-27T02:29:00Z UMLS:C4025105 human_phenotype owl:Class HP:0200122 biolink:NamedThing Atypical or prolonged hepatitis hp0009lx5z Atypical or prolonged liver inflammation sebastiankohler 2013-06-11T11:20:29Z UMLS:C1848456 human_phenotype owl:Class HP:0005792 biolink:NamedThing Short humerus Underdevelopment of the humerus. hp0009lx5z Humeral hypoplasia|Short humeri|Short humerus|Humeral shortening|Hypoplastic humerus|Short upper arms|Short long bone of upper arm HP:0003064|HP:0006468|HP:0006464|HP:0006419|HP:0003014|HP:0002989 UMLS:C1832117 human_phenotype owl:Class HP:0008706 biolink:NamedThing Distal urethral duplication hp0009lx5z UMLS:C4024634 human_phenotype owl:Class HP:0033620 biolink:NamedThing Atypical perifissural nodule A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical). hp0009lx5z 2021-01-30 22:39:18+00:00 peter owl:Class HP:0033613 biolink:NamedThing Perifissural pulmonary nodule Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. hp0009lx5z 2021-01-30 22:28:48+00:00 peter owl:Class HP:0002346 biolink:NamedThing Head tremor An unintentional, oscillating to-and-fro muscle movement affecting head movement. hp0009lx5z Head tremor UMLS:C0239882 human_phenotype owl:Class HP:0030188 biolink:NamedThing Tremor by anatomical site Tremor classified by the affected body part. hp0009lx5z Tremor of a body part UMLS:C4022593 owl:Class HP:0009419 biolink:NamedThing Stippling of the epiphyses of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger. hp0009lx5z Speckled calcifications in end part of middle finger bone doelkens 2009-01-14T02:01:59Z UMLS:C4024375 human_phenotype owl:Class HP:0031010 biolink:NamedThing Hyperphalangy of the 3rd finger An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint. hp0009lx5z Hyperphalangy of third finger 2017-05-13 21:44:05+00:00 peter owl:Class HP:0031384 biolink:NamedThing Reduced T cell CD40 expression A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes. hp0009lx5z 2017-09-02 16:16:13+00:00 This feature can be observed with X-linked Hyper IgM (XHIGM) syndrome. As a consequence of the deficiency in CD40 ligand, T-lymphocytes in patients with XHIGM are unable to instruct B-lymphocytes to switch their production of immunoglobulins from IgM to IgG, IgA and IgE. peter owl:Class HP:0031383 biolink:NamedThing Abnormal lymphocyte surface marker expression Abnormal amount of a protein that is normally present on the cell surface of lymphocytes. hp0009lx5z 2017-09-02 16:14:13+00:00 peter owl:Class HP:0000694 biolink:NamedThing Odontodysplasia The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin. hp0009lx5z Ghost teeth|Teeth with type iii dentinogenesis imperfecta|Shell teeth|Teeth with dentinal dysplasia|Teeth with thin dentin and large pulp chambers UMLS:C2981132|SNOMEDCT_US:67504007 owl:Class HP:0000891 biolink:NamedThing Cervical ribs hp0009lx5z UMLS:C0158779|MSH:D057070|SNOMEDCT_US:72535009 human_phenotype owl:Class HP:0033052 biolink:NamedThing Psychogenic non-epileptic seizure Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging. hp0009lx5z Individuals with PNES may bite their tongue (though usually the front not the side), may injure themselves (though usually cuts, carpet burns or wrist injury from falling on to an out-stretched arm) and may report seizures from sleep (the night time being a vulnerable time for panic symptoms and likely to be awake at the onset). peter owl:Class HP:0040314 biolink:NamedThing Blind vagina The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. hp0009lx5z Blind-ended vagina owl:Class HP:0010578 biolink:NamedThing Bracket epiphyses hp0009lx5z Bracket shaped end part of long bone sandra1 2009-10-22T02:53:19Z UMLS:C4023785 human_phenotype owl:Class HP:0010111 biolink:NamedThing Short phalanx of hallux Underdevelopment (hypoplasia) of a phalanx of big toe. hp0009lx5z Hypoplastic phalanges of the hallux|Short bone of big toe doelkens 2009-05-29T12:49:19Z UMLS:C4021334 human_phenotype owl:Class HP:0010058 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the hallux hp0009lx5z Absent/underdeveloped big toe bone|Absent/small big toe bone doelkens 2009-05-29T12:10:46Z UMLS:C4024079 human_phenotype owl:Class HP:0008311 biolink:NamedThing Spinal cord posterior columns myelin loss hp0009lx5z UMLS:C4024706 human_phenotype owl:Class HP:0009177 biolink:NamedThing Proximal/middle symphalangism of 5th finger Fusion of the proximal and middle phalanges of the 5th finger. hp0009lx5z Proximal 5th finger symphalangism|Fused innermost and middle bones of pinkie finger|Symphalangism of the proximal and middle phalanges of the 5th finger|Fused innermost and middle bones of little finger|Proximal fifth finger symphalangism|Fused innermost and middle bones of pinky finger peter 2008-12-29T03:17:08Z HP:0005835|HP:0006025|HP:0009235 UMLS:C1836212 human_phenotype owl:Class HP:0032407 biolink:NamedThing Bilateral perisylvian polymicrogyria A type of perisylvian polymicrogyria that affects both sides of the brain. hp0009lx5z 2019-02-24 20:47:02+00:00 peter owl:Class HP:0004394 biolink:NamedThing Multiple gastric polyps hp0009lx5z peter 2008-03-18T09:11:00Z MSH:C562464|SNOMEDCT_US:78809005|SNOMEDCT_US:87252009|UMLS:C0236048 human_phenotype owl:Class HP:0031002 biolink:NamedThing Neuritis Inflammation of a nerve. hp0009lx5z 2017-05-13 20:14:14+00:00 peter owl:Class HP:0025488 biolink:NamedThing Detrusor sphincter dyssynergia A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. hp0009lx5z 2017-05-14 17:09:10+00:00 Detrusor sphincter dyssynergia (DSD) is associated with neurologic conditions such as spinal cord injury, multiple sclerosis, and spina bifida and some of these neurogenic bladder patients with DSD may be at risk for autonomic dysreflexia, recurrent urinary tract infections, or upper tract compromise if the condition is not followed and treated appropriately. It is diagnosed most commonly during the voiding phase of urodynamic studies using EMG recordings and voiding cystourethrograms, although urethral pressure monitoring could also potentially be used. HPO:probinson owl:Class HP:0200151 biolink:NamedThing Cutaneous mastocytosis Multifocal dense infiltrates of mast cells in cutaneous tissue. hp0009lx5z sebastiankohler 2013-06-14T09:22:02Z MSH:D034701|SNOMEDCT_US:703827008|UMLS:C1136033|SNOMEDCT_US:397012002 human_phenotype owl:Class HP:0100495 biolink:NamedThing Mastocytosis The presence of an increased number of mast cells and CD34+ mast cell precursors in the body. hp0009lx5z doelkens 2010-12-17T04:06:36Z SNOMEDCT_US:397007003|SNOMEDCT_US:125541005|UMLS:C0024899|MSH:D008415 human_phenotype owl:Class HP:0006406 biolink:NamedThing Club-shaped proximal femur An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. hp0009lx5z Club-shaped innermost end of thighbone previous def: 'has part' some (clavate and ('inheres in' some 'Proximal end of femur (adult human)') and ('has modifier' some abnormal)) UMLS:C1968611 owl:Class HP:0002359 biolink:NamedThing Frequent falls hp0009lx5z Frequent falls UMLS:C0850703 human_phenotype owl:Class HP:0002461 biolink:NamedThing Dense calcifications in the cerebellar dentate nucleus hp0009lx5z UMLS:C1859273 human_phenotype owl:Class HP:0009160 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger. hp0009lx5z Absent end part of the innermost bone of pinkie finger|Absent end part of the innermost bone of little finger|Absent end part of the innermost bone of pinky finger peter 2008-12-22T05:50:39Z UMLS:C4024564 human_phenotype owl:Class HP:0031571 biolink:NamedThing Paramedian facial cleft A type of facial cleft located near to but not directly on the midline of the face. hp0009lx5z 2017-10-14 12:27:05+00:00 peter owl:Class HP:0033294 biolink:NamedThing Glomerular lipoprotein thrombus Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. hp0009lx5z 2020-11-28 21:30:32+00:00 peter owl:Class HP:0004828 biolink:NamedThing Refractory anemia with ringed sideroblasts A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts. hp0009lx5z Myelodysplasia with sideroblastosis|Refractory anaemia with ringed sideroblasts SNOMEDCT_US:109998009|UMLS:C1264195|SNOMEDCT_US:128846006|ICD-O:M9982/3 human_phenotype owl:Class HP:0012150 biolink:NamedThing Single lineage myelodysplasia Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic). hp0009lx5z peter 2012-09-16T08:39:39Z UMLS:C4023019 human_phenotype owl:Class HP:0025034 biolink:NamedThing Abnormal morphology of erythroid progenitor cell Abnormal form of the progenitor cells committed to the erythroid lineage. hp0009lx5z 2016-09-02 11:14:05+00:00 HPO:probinson owl:Class HP:0012130 biolink:NamedThing Abnormal erythroid lineage cell morphology An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. hp0009lx5z Abnormality of cells of the erythroid lineage peter 2012-09-16T07:14:03Z UMLS:C4020862 human_phenotype owl:Class HP:0009387 biolink:NamedThing Irregular epiphyses of the 5th finger Irregular radiographic opacity of the epiphyses of the 5th finger. hp0009lx5z Irregular end part of the pinky finger bones|Irregular end part of the little finger bones|Irregular end part of the pinkie finger bones doelkens 2009-01-13T01:19:03Z UMLS:C4024402 human_phenotype owl:Class HP:0008820 biolink:NamedThing Absent ossification of capital femoral epiphysis Lack of ossification of the proximal epiphysis of the femur. hp0009lx5z Absent ossification of femoral capital epiphyses The ossification center of the capital femoral epiphysis appears at the end of the first year after birth. UMLS:C1968686 human_phenotype owl:Class HP:0009107 biolink:NamedThing Abnormal ossification involving the femoral head and neck hp0009lx5z Abnormal maturation of thigh bone head and neck peter 2008-04-04T08:42:00Z UMLS:C4024595 human_phenotype owl:Class HP:0033430 biolink:NamedThing Non-infectious meningitis Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines. hp0009lx5z 2021-01-09 17:52:39+00:00 peter owl:Class HP:0011414 biolink:NamedThing Hydropic placenta An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement. hp0009lx5z Hydrops of the placenta peter 2012-03-15T10:07:47Z SNOMEDCT_US:75094005|UMLS:C0270254 human_phenotype owl:Class HP:0011683 biolink:NamedThing Restrictive ventricular septal defect Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD. hp0009lx5z This term can be used in addition to another term describing the morphology of a VSD. peter 2012-04-10T08:26:59Z SNOMEDCT_US:253551005|UMLS:C0344924 human_phenotype owl:Class HP:0003124 biolink:NamedThing Hypercholesterolemia An increased concentration of cholesterol in the blood. hp0009lx5z Increased total cholesterol|Elevated serum cholesterol|High cholesterol|Elevated total cholesterol HP:0008173|HP:0008154|HP:0008359 SNOMEDCT_US:166830008|UMLS:C0595929|MSH:D006937|SNOMEDCT_US:13644009|UMLS:C0020443 owl:Class HP:0033360 biolink:NamedThing Impaired ability to shift attention A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible. hp0009lx5z Impaired task shifting 2020-12-02 20:43:41+00:00 peter owl:Class HP:0030009 biolink:NamedThing Cervical insufficiency A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent hp0009lx5z Incompetent cervix One of the known risk factors for preterm birth is cervical insufficiency. MSH:D002581|SNOMEDCT_US:17382005|UMLS:C0007871 owl:Class HP:0007365 biolink:NamedThing Aplasia/Hypoplasia involving the corticospinal tracts hp0009lx5z peter 2008-03-31T05:45:00Z UMLS:C4024901 human_phenotype owl:Class HP:0002492 biolink:NamedThing Morphological abnormality of the corticospinal tract Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. hp0009lx5z Abnormality of the corticospinal tract|Involvement of the corticospinal pathways HP:0006912 UMLS:C4020852|UMLS:C4025704 human_phenotype owl:Class HP:0031295 biolink:NamedThing Left atrial enlargement Increase in size of the left atrium. hp0009lx5z Enlarged heart left atrium 2017-08-13 21:38:04+00:00 peter Fyler:3020|Fyler:3011 owl:Class HP:0025579 biolink:NamedThing Abnormal left atrium morphology Any structural abnormality of the left atrium. hp0009lx5z 2017-12-15 23:54:09+00:00 HPO:probinson Fyler:3010 owl:Class HP:0040101 biolink:NamedThing Cutaneous atresia of the external auditory canal hp0009lx5z HPO:skoehler UMLS:C4022440 owl:Class HP:0011098 biolink:NamedThing Speech apraxia A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. hp0009lx5z Apraxia of speech|Verbal dyspraxia Speech apraxia may co-occur with oral apraxia and limb apraxia. peter 2011-05-15T08:57:11Z SNOMEDCT_US:361277007|MSH:D001072|UMLS:C0349391|SNOMEDCT_US:74227009|UMLS:C0264611|SNOMEDCT_US:361276003 human_phenotype owl:Class HP:0005318 biolink:NamedThing Cerebral vasculitis Inflammation of the blood vessels within the brain. hp0009lx5z MSH:D020293|SNOMEDCT_US:427020007|UMLS:C0238051 human_phenotype owl:Class HP:3000067 biolink:NamedThing Abnormal lateral cricoarytenoid muscle morphology Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway. hp0009lx5z Abnormality of lateral crico-arytenoid|Abnormality of lateral cricoarytenoid muscle|Abnormal anterior cricoarytenoid muscle morphology vasilevs 2015-08-07T03:38:35Z UMLS:C4073274 human_phenotype owl:Class HP:0012725 biolink:NamedThing Cutaneous syndactyly A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. hp0009lx5z Syndactyly, cutaneous|Cutaneous syndactyly of digits peter 2014-03-23T01:40:45Z UMLS:C1861921 human_phenotype owl:Class HP:0040243 biolink:NamedThing Prolonged euglobulin clot lysis time Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. hp0009lx5z This term has been requested and created by members of the BRIDGE consortium UMLS:C4280705 owl:Class HP:0008103 biolink:NamedThing Delayed tarsal ossification Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. hp0009lx5z Tarsal delayed ossification|Delayed ankle bone maturation HP:0008145 UMLS:C1846853|UMLS:C4280418 human_phenotype owl:Class HP:0030483 biolink:NamedThing Reduced amplitude of dark-adapted bright flash electroretinogram a-wave An abnormal reduction in the amplitude of the a-wave. hp0009lx5z UMLS:C4072973 owl:Class HP:0030478 biolink:NamedThing Abnormal amplitude of dark-adapted bright flash electroretinogram hp0009lx5z UMLS:C4072968 owl:Class HP:0008800 biolink:NamedThing Limited hip movement A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. hp0009lx5z Limited hip movement UMLS:C1851542 human_phenotype owl:Class HP:0006270 biolink:NamedThing Hypoplastic spleen Underdevelopment of the spleen. hp0009lx5z Underdeveloped spleen UMLS:C1970617 human_phenotype owl:Class HP:0010451 biolink:NamedThing Aplasia/Hypoplasia of the spleen Absence or underdevelopment of the spleen. hp0009lx5z Absent/underdeveloped spleen|Absent/small spleen peter 2009-09-14T10:48:29Z UMLS:C4023823 human_phenotype owl:Class HP:0100342 biolink:NamedThing Fibular deviation of the 3rd toe hp0009lx5z doelkens 2010-11-11T03:43:52Z UMLS:C4022138 human_phenotype owl:Class HP:0010332 biolink:NamedThing Deviation of the 3rd toe hp0009lx5z Displacement of the 3rd toe doelkens 2009-07-16T11:40:52Z UMLS:C4021295 human_phenotype owl:Class HP:0009134 biolink:NamedThing Osteolysis involving bones of the feet hp0009lx5z peter 2008-04-17T02:43:00Z UMLS:C4024579 human_phenotype owl:Class HP:0003482 biolink:NamedThing EMG: axonal abnormality Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. hp0009lx5z This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations. UMLS:C4025609 owl:Class HP:0001428 biolink:NamedThing Somatic mutation A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation. hp0009lx5z This term applies to a disease whose etiology is related to an alteration in DNA that occurs after conception. Somatic mutations occur in all body tissues throughout life and are not present in the germline from which the individual developed (The Greek word soma means body.) The majority of somatic mutations have no phenotypic effect. However, occasionally they may have functional consequences that confer a selective advantage on the cell owing to preferential growth or survival. These so-called driver mutations may ultimately lead to cancer or other diseases. SNOMEDCT_US:124975008|UMLS:C0544886 human_phenotype owl:Class HP:0020154 biolink:NamedThing Nevus comedonicus A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones. hp0009lx5z Nevus comedonicus has a predilection for the face and neck area. Nevus comedonicus presents with grouped, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material. Their appearance resembles black dots but the material cannot be easily removed mechanically in contrast to acne comedones. Nevus comedonicus lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid. robinp 2019-07-05 21:03:08+00:00 owl:Class HP:0010816 biolink:NamedThing Epidermal nevus Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. hp0009lx5z Epidermal nevi Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematised epidermal naevus. Several other conditions are also characterised by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus. peter 2010-07-10T12:12:32Z SNOMEDCT_US:25201003|SNOMEDCT_US:239107007|UMLS:C0334082|MSH:C580062 human_phenotype owl:Class HP:0100887 biolink:NamedThing Abnormality of globe size An abnormality in the size of the ocular globe (eyeball). hp0009lx5z Abnormality of eyeball size|Eye size difference doelkens 2011-12-13T04:25:29Z HP:0010725 UMLS:C4021945 human_phenotype owl:Class HP:0005332 biolink:NamedThing Recurrent mandibular subluxations Recurrent partial dislocations of the mandible. hp0009lx5z UMLS:C1857011 human_phenotype owl:Class HP:0041181 biolink:NamedThing Fractured distal phalanx of pedal digit 3 A partial or complete breakage of the distal phalanx of pedal digit 3. hp0009lx5z bone distal phalanx of pedal digit 3 owl:Class HP:0041218 biolink:NamedThing Fractured distal phalanx A partial or complete breakage of the distal phalanx. hp0009lx5z bone distal phalanx owl:Class HP:3000073 biolink:NamedThing Abnormality of levator veli palatini muscle An abnormality of a levator veli palatini. hp0009lx5z vasilevs 2015-08-07T03:39:01Z UMLS:C4073280 human_phenotype owl:Class HP:0011141 biolink:NamedThing Age-related cataract A type of cataract (opacification of the lens) that forms during the course of aging. hp0009lx5z Clouding of the lens of the eye with age The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibres throughout life, so with increasing age the lens becomes more compact and thicker. peter 2011-06-27T09:41:38Z UMLS:C0036646|SNOMEDCT_US:39450006 human_phenotype owl:Class HP:0000040 biolink:NamedThing Long penis Penile length more than 2 SD above the mean for age. hp0009lx5z Enlarged penis|Long penis Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. SNOMEDCT_US:88673001|UMLS:C0269011 human_phenotype owl:Class HP:0410400 biolink:NamedThing Absent sebaceous glands Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts. hp0009lx5z Absence of sebaceous glands owl:Class HP:0011151 biolink:NamedThing Atypical absence status epilepticus Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. hp0009lx5z Obtundation status In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. This form of seizure may be observed in Lennox-Gastaut syndrome. peter 2011-10-18T02:09:55Z UMLS:C4023511 owl:Class HP:0009215 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 4th finger An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the middle bone of the ring finger doelkens 2009-01-05T05:23:59Z UMLS:C4024526 human_phenotype owl:Class HP:0012169 biolink:NamedThing Self-biting Habitual biting of one's own body. hp0009lx5z Biting of one's own arms, lip, check, finger etc. peter 2013-02-20T09:36:42Z UMLS:C0424375|SNOMEDCT_US:248072009 human_phenotype owl:Class HP:0410070 biolink:NamedThing Increased level of ribitol in urine An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose. hp0009lx5z 2018-01-29 22:58:41+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0000931 biolink:NamedThing Thinning and bulging of the posterior fossa bones hp0009lx5z Thinning and bulging of occipital bone of skull|Thinning and bulging of posterior fossa bones|Thinning and bulging of posterior skull bones UMLS:C4280608|UMLS:C4021788 human_phenotype owl:Class HP:0032613 biolink:NamedThing Renal interstitial amyloid deposits Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. hp0009lx5z Renal interstitial amyloid deposition|Renal interstitial amyloidosis|Renal interstitial amyloid peter owl:Class HP:0030502 biolink:NamedThing Retinoschisis Splitting of the neuroretinal layers of the retina. hp0009lx5z UMLS:C0152439|SNOMEDCT_US:44268007|MSH:D041441 owl:Class HP:0006337 biolink:NamedThing Premature eruption of permanent teeth Premature tooth eruption of the permanent dentition. hp0009lx5z Early eruption of adult teeth|Precocious eruption of secondary teeth|Precocious eruption of secondary dentition|Early eruption of permanent teeth|Premature eruption of adult teeth UMLS:C4021601 owl:Class HP:0007761 biolink:NamedThing Pericentral scotoma A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point. hp0009lx5z UMLS:C1321308|SNOMEDCT_US:404650002 human_phenotype owl:Class HP:0030657 biolink:NamedThing Umbilical cord hematoma Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels. hp0009lx5z Umbilical cord haematoma UToronto:chum UMLS:C0269855|SNOMEDCT_US:86256001 owl:Class HP:0009298 biolink:NamedThing Aplasia of the proximal phalanx of the 4th finger Absence of the proximal phalanx of the ring (4th) finger. hp0009lx5z Absent innermost ring finger bone doelkens 2009-01-08T04:22:16Z UMLS:C4024460 human_phenotype owl:Class HP:0009300 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the 4th finger hp0009lx5z Absent/underdeveloped innermost ring finger bone|Absent/small innermost ring finger bone doelkens 2009-01-08T04:28:54Z HP:0004203 UMLS:C4020658 human_phenotype owl:Class HP:0031545 biolink:NamedThing Abnormally low T cell receptor excision circle level Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. hp0009lx5z 2017-09-24 22:20:27+00:00 T-cell receptor excision circle (TRECs) are extrachromosomal DNA byproducts of T-cell receptor rearrangement and are nonreplicative. TREC analysis provides a very specific assessment of T-cell recovery (eg, after hematopoietic cell transplantation) or numerical T-cell competence peter owl:Class HP:0011839 biolink:NamedThing Abnormal T cell count A deviation from the normal count of T cells. hp0009lx5z Abnormality of T cell number|Abnormal number of T cells peter 2012-05-06T10:43:44Z UMLS:C4021113 human_phenotype owl:Class HP:0006903 biolink:NamedThing Congenital peripheral neuropathy hp0009lx5z UMLS:C4024967 human_phenotype owl:Class HP:0006956 biolink:NamedThing Dilation of lateral ventricles hp0009lx5z Dilatation of lateral cerebral ventricles|Enlarged lateral ventricles|Lateral ventricle dilatation HP:0006945|HP:0007173|HP:0006796 UMLS:C1856409 owl:Class HP:0030047 biolink:NamedThing Abnormal lateral ventricle morphology A morphological anomaly of the lateral ventricle. hp0009lx5z Abnormality of lateral ventricle There are two lateral ventricles, one on each side of the brain. The lateral ventricle resembles a C-shaped structure that begins at an inferior horn in the temporal lobe, travels through a body in the parietal lobe and frontal lobe, and ultimately terminates at the interventricular foramen of Monro where each lateral ventricle connects to the central third ventricle. UMLS:C4022662 owl:Class HP:0003210 biolink:NamedThing Decreased methylmalonyl-CoA mutase activity An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. hp0009lx5z Decreased methylmalonyl CoA mutase activity The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids. UMLS:C1848579 human_phenotype owl:Class HP:0000816 biolink:NamedThing Abnormality of Krebs cycle metabolism An abnormality of the tricarboxylic acid cycle. hp0009lx5z Abnormality of the tricarboxylic cycle|Abnormality of citric acid cycle peter 2008-03-17T12:58:00Z UMLS:C4021795 human_phenotype owl:Class HP:0033549 biolink:NamedThing Nodular mesangiosclerosis Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. hp0009lx5z 2021-01-21 13:46:06+00:00 Nodular mesangiosclerosis is a pattern that can be observed together with mesangolysis but may also occur independently and so should be coded separately. peter owl:Class HP:0100795 biolink:NamedThing Abnormally straight spine The absence of the normal curvature of the vertebral column. hp0009lx5z Abnormally straight spine doelkens 2011-06-08T03:52:57Z UMLS:C4021969 human_phenotype owl:Class HP:0010073 biolink:NamedThing Synostosis involving the 1st metatarsal hp0009lx5z Fusion involving the 1st long bone of foot doelkens 2009-05-29T12:13:57Z UMLS:C4024071 human_phenotype owl:Class HP:0010669 biolink:NamedThing Hypoplasia of the zygomatic bone Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. hp0009lx5z Flattening of the zygomatic bone|Depressed cheekbone|Hypotrophy of the cheekbone|Underdevelopment of zygomatic bone|Hypotrophic cheekbone|Cheekbone underdevelopment|Hypoplasia of cheekbone|Decreased size of zygomatic bone|Hypotrophy of the zygomatic bone|Underdevelopment of cheekbone|Small zygomatic bone|Decreased size of cheekbone|Small malar bone|Depressed zygomatic bone|Hypotrophic zygomatic bone|Small cheekbone peter 2010-02-26T08:14:04Z UMLS:C4021242|UMLS:C4072879|UMLS:C4280370|UMLS:C4280368|UMLS:C4280369 human_phenotype owl:Class HP:0012859 biolink:NamedThing Esophageal leukoplakia A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease. hp0009lx5z Esophageal epidermoid metaplasia hecht 2014-06-08T11:16:53Z UMLS:C0267095|SNOMEDCT_US:89057003 human_phenotype owl:Class HP:5000012 biolink:NamedThing Anti-Gephyrin antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin. hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0500228 biolink:NamedThing Decreased CSF serine concentration Abnormally decreased levels of serine in cerebrospinal fluid. hp0009lx5z Low serine levels in cerebrospinal fluid 2019-02-25 20:32:46+00:00 owl:Class HP:0500226 biolink:NamedThing Abnormal CSF serine concentration Any deviation from the normal concentration of serine in the cerebrospinal fluid. hp0009lx5z Abnormal serine levels in cerebrospinal fluid 2019-02-25 20:30:42+00:00 owl:Class HP:0004492 biolink:NamedThing Widely patent fontanelles and sutures An abnormally increased width of the cranial fontanelles and sutures. hp0009lx5z Widely patent fontanels and sutures This term indicates that both the fontanelles and the sutures are widely patent and thus represents a severe form of delay in closure of the fontanelles/sutures. HP:0005492|HP:0002646 UMLS:C1849300 human_phenotype owl:Class HP:0009781 biolink:NamedThing Lester's sign A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. hp0009lx5z peter 2009-02-03T04:50:17Z UMLS:C4024210 human_phenotype owl:Class HP:0001100 biolink:NamedThing Heterochromia iridis Heterochromia iridis is a difference in the color of the iris in the two eyes. hp0009lx5z Different coloured eyes|Different colored eyes|Heterochromia irides UMLS:C0423318|MSH:C538115|SNOMEDCT_US:247033008 human_phenotype owl:Class HP:0033208 biolink:NamedThing Alveolar capillary dysplasia A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis. hp0009lx5z 2020-10-12 11:18:41+00:00 peter owl:Class HP:4000060 biolink:NamedThing Abnormal pulmonary alveolar system development hp0009lx5z 2021-06-09 12:17:33+00:00 robinp owl:Class HP:0033067 biolink:NamedThing Cystine crystalluria hp0009lx5z Cystine crystals precipitate as symmetrical hexagons, mostly aggregated, and are constantly birefringent. They are typical of patients with cystinuria, but to find them the urine pH must be lowered to 4.0 with glacial acetic acid and stored overnight at 4 degrees C. peter owl:Class HP:0011317 biolink:NamedThing Right unicoronal synostosis Unicoronal synostosis affecting only the right coronal suture. hp0009lx5z peter 2012-02-25T01:11:21Z UMLS:C4023416 human_phenotype owl:Class HP:0011315 biolink:NamedThing Unicoronal synostosis Synostosis affecting only one of the coronal sutures. hp0009lx5z Unilateral coronal suture craniosynostosis|Unilateral coronal suture synostosis|Unilateral coronal craniosynostosis peter 2012-02-25T01:08:28Z UMLS:C4020756|UMLS:C4023418 human_phenotype owl:Class HP:0000074 biolink:NamedThing Ureteropelvic junction obstruction Blockage of urine flow from the renal pelvis to the proximal ureter. hp0009lx5z Ureteropelvic junction stenosis|Pelviureteric junction obstruction SNOMEDCT_US:95575002|MSH:C537373|UMLS:C0521619 owl:Class HP:0010802 biolink:NamedThing Perioral hyperpigmentation Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips. hp0009lx5z Increased pigmentation around the mouth|Darkening of skin around the mouth Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately. peter 2010-06-26T02:22:18Z UMLS:C4023699 human_phenotype owl:Class HP:0009450 biolink:NamedThing Broad proximal phalanx of the 3rd finger Increased width of the proximal phalanx of the 3rd finger. hp0009lx5z Broad innermost bone of middle finger doelkens 2009-01-14T04:33:41Z UMLS:C4024355 human_phenotype owl:Class HP:0500194 biolink:NamedThing Decreased CSF isoleucine concentration Abnormally decreased levels of isoleucine in cerebrospinal fluid. hp0009lx5z Low levels of isoleucine in cerebrospinal fluid 2019-02-25 16:25:36+00:00 owl:Class HP:0012124 biolink:NamedThing Intermediate uveitis Inflammation of the uveal tract in which the primary site of inflammation is the vitreous. hp0009lx5z hecht 2012-09-16T06:25:53Z UMLS:C0042166|SNOMEDCT_US:314429009|MSH:D015867 human_phenotype owl:Class HP:0100828 biolink:NamedThing Increased T cell count An abnormal increase in the total number of T cells detected in the blood. hp0009lx5z Increase in T cell count|Increase in T cell number doelkens 2011-06-09T05:34:46Z UMLS:C4021960 human_phenotype owl:Class HP:0100827 biolink:NamedThing Lymphocytosis Increase in the number or proportion of lymphocytes in the blood. hp0009lx5z High lymphocyte count doelkens 2011-06-09T05:32:57Z HP:0012141 SNOMEDCT_US:67023009|MSH:D008218|UMLS:C0024282 human_phenotype owl:Class HP:0002425 biolink:NamedThing Anarthria A defect in the motor ability that enables speech. hp0009lx5z Loss of articulate speech UMLS:C0234517|SNOMEDCT_US:48257004 owl:Class HP:0031512 biolink:NamedThing Abnormal cutaneous collagen fibril morphology hp0009lx5z 2017-09-22 01:31:38+00:00 An anomaly of the collagen fibers located in the skin. peter owl:Class HP:0010136 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux. hp0009lx5z Speckled calcifications in the end part of the innermost bone of the big toe doelkens 2009-05-29T01:22:23Z UMLS:C4024023 human_phenotype owl:Class HP:0010122 biolink:NamedThing Stippling of the epiphyses of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux. hp0009lx5z Speckled calcifications in the end part of the big toe bone doelkens 2009-05-29T01:16:38Z UMLS:C4024037 human_phenotype owl:Class HP:0006780 biolink:NamedThing Parathyroid carcinoma A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. hp0009lx5z Parathyroid Cancer UMLS:C0687150|MSH:D010282|NCIT:C2916|SNOMEDCT_US:363481002|SNOMEDCT_US:255037004 human_phenotype owl:Class HP:0100733 biolink:NamedThing Neoplasm of the parathyroid gland A tumor (abnormal growth of tissue) of the parathyroid gland. hp0009lx5z Parathyroid neoplasia doelkens 2011-06-06T05:09:38Z UMLS:C0030521|NCIT:C3262|SNOMEDCT_US:127020005|MSH:D010282 owl:Class HP:0010652 biolink:NamedThing Abnormal dura mater morphology An abnormality of the Dura mater. hp0009lx5z Abnormality of the dura mater peter 2010-02-25T10:29:40Z UMLS:C4023757 human_phenotype owl:Class HP:0012590 biolink:NamedThing Abnormal urine output An abnormal amount of urine production. hp0009lx5z peter 2014-01-16T03:59:33Z UMLS:C3693260 human_phenotype owl:Class HP:5000009 biolink:NamedThing Anti-GABA(A)R antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R. hp0009lx5z Anti-gamma amino butyric acid type A receptors antibody|Anti-GABAA R antibody ORCID:0000-0002-3387-1836 owl:Class HP:0500107 biolink:NamedThing Isolated diastolic hypotension A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg). hp0009lx5z 2018-06-22 14:06:56+00:00 Isolated diastolic hypotension is a risk factor for incident heart failure. owl:Class HP:0500104 biolink:NamedThing Decreased diastolic blood pressure Abnormal decrease in diastolic blood pressure. hp0009lx5z Reduced diastolic blood pressure|Decreased diastolic BP 2018-06-22 13:58:31+00:00 owl:Class HP:0009101 biolink:NamedThing Submucous cleft lip A cleft of the lip with overlying mucous membrane. hp0009lx5z Submucous labial cleft Submucous cleft lip may lead to increased nasal resonance. UMLS:C1839277 human_phenotype owl:Class HP:0031068 biolink:NamedThing Increased femoral torsion Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range. hp0009lx5z 2017-05-28 22:50:19+00:00 peter owl:Class HP:0012653 biolink:NamedThing Status asthmaticus Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine. hp0009lx5z Acute severe asthma peter 2014-02-12T10:43:34Z UMLS:C0038218|SNOMEDCT_US:708090002|MSH:D013224 owl:Class HP:0006919 biolink:NamedThing Abnormal aggressive, impulsive or violent behavior hp0009lx5z Aggressive/violent behavior|Abnormal aggressive, impulsive or violent behaviour|Aggressive/violent behaviour UMLS:C4024963 human_phenotype owl:Class HP:0012340 biolink:NamedThing Decreased resting energy expenditure A reduction in the number of calories used per unit time. hp0009lx5z peter 2013-09-13T09:27:05Z UMLS:C4022947 human_phenotype owl:Class HP:0002378 biolink:NamedThing Hand tremor An unintentional, oscillating to-and-fro muscle movement affecting the hand. hp0009lx5z tremors in hands|Tremor of hand|Hand tremor|Tremor of hands UMLS:C0239842 human_phenotype owl:Class HP:0030371 biolink:NamedThing Increased proportion of naive B cells An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. hp0009lx5z UMLS:C4072910 owl:Class HP:0009634 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the thumb An uneven increase in bone density of the proximal phalanx of the thumb. hp0009lx5z Uneven increase in bone density in the innermost thumb bone doelkens 2009-01-29T05:09:41Z UMLS:C4024264 human_phenotype owl:Class HP:0100913 biolink:NamedThing Sclerosis of the proximal phalanx of the thumb An elevation of bone density in the proximal phalanx of the thumb. hp0009lx5z Increased bone density in the innermost bone of the thumb UMLS:C4021929 human_phenotype owl:Class HP:0003456 biolink:NamedThing Low urinary cyclic AMP response to PTH administration hp0009lx5z UMLS:C1864105 human_phenotype owl:Class HP:0030476 biolink:NamedThing Abnormal amplitude of dark-adapted dim flash electroretinogram hp0009lx5z UMLS:C4072966 owl:Class HP:0030471 biolink:NamedThing Abnormal dark-adapted dim flash electroretinogram hp0009lx5z UMLS:C4072961 owl:Class HP:0006370 biolink:NamedThing Distal ulnar epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna. hp0009lx5z Distal ulnar epiphyseal calcifications UMLS:C4021600 human_phenotype owl:Class HP:0030836 biolink:NamedThing Wrist pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. hp0009lx5z Wrist pain UMLS:C0221785|SNOMEDCT_US:56608008|SNOMEDCT_US:202482009 owl:Class HP:0012513 biolink:NamedThing Upper limb pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm. hp0009lx5z Upper limb pain peter 2013-12-08T09:07:11Z SNOMEDCT_US:102556003|UMLS:C0239377 human_phenotype owl:Class HP:0030474 biolink:NamedThing Undetectable dark-adapted electroretinogram hp0009lx5z UMLS:C4072964 owl:Class HP:0032010 biolink:NamedThing Basic constant exotropia Constant exotropia for near and distance, presenting after 6 months of age. hp0009lx5z Basic (constant) exotropia 2018-07-22 15:39:30+00:00 Typically infantile constant exotropia suggests presentation at 6 months of age or younger, while basic constant exotropia suggests later presentation (older than 6-12 months). (OHO 745 & 750). peter owl:Class HP:0020177 biolink:NamedThing Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. hp0009lx5z Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated robinp 2019-07-06 22:18:57+00:00 owl:Class HP:0001727 biolink:NamedThing Thromboembolic stroke A cerebrovascular accident (stroke) that occurs because of thromboembolism. hp0009lx5z UMLS:C1112433 human_phenotype owl:Class HP:0100548 biolink:NamedThing Exstrophy Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. hp0009lx5z doelkens 2010-12-21T02:20:01Z SNOMEDCT_US:110407002|UMLS:C0015338 human_phenotype owl:Class HP:0025363 biolink:NamedThing Glomerular endocapillary hypercellularity Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. hp0009lx5z Endocapillary hypercellularity 2017-02-20 13:33:20+00:00 The endocapillary compartment of the glomerulus includes the endothelial cells, mesangial cells, and any leukocytes in the capillary lumens or mesangium. HPO:probinson owl:Class HP:0032872 biolink:NamedThing Focal impaired awareness cognitive seizure with illusion A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0007541 biolink:NamedThing Frontal cutaneous lipoma Presence of a cutaneous lipoma on the forehead. hp0009lx5z UMLS:C1850970|NCIT:C3192 human_phenotype owl:Class HP:0030766 biolink:NamedThing Ear pain Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). hp0009lx5z Ear pain|Pain in the ear|Otalgia UMLS:C0013456|SNOMEDCT_US:16001004|MSH:D004433|SNOMEDCT_US:162356005 owl:Class HP:0046506 biolink:NamedThing Pain in head and neck region hp0009lx5z owl:Class HP:0011610 biolink:NamedThing Type IV truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present. hp0009lx5z Persistent truncus arteriosus type IV|Type 4 truncus arteriosus According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. peter 2012-04-08T03:11:07Z Fyler:540|Fyler:0540|UMLS:C4021135 human_phenotype owl:Class HP:0012858 biolink:NamedThing Decreased scrotal rugation Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum. hp0009lx5z hecht 2014-06-08T11:14:00Z UMLS:C4022705 human_phenotype owl:Class HP:0012856 biolink:NamedThing Abnormal scrotal rugation Anomaly of the folded ridges (wrinkles) of skin of the scrotum. hp0009lx5z hecht 2014-06-08T11:10:00Z UMLS:C4022707 human_phenotype owl:Class HP:0001500 biolink:NamedThing Broad finger Increased width of a non-thumb digit of the hand. hp0009lx5z Broad finger|Wide fingers|Broad fingers Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5". HP:0001497 UMLS:C1844906 human_phenotype owl:Class HP:0011415 biolink:NamedThing Calcified placenta hp0009lx5z peter 2012-03-15T10:10:35Z SNOMEDCT_US:249174002|UMLS:C0426234 human_phenotype owl:Class HP:0031076 biolink:NamedThing Impaired cortisol response to insulin stimulation test Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT). hp0009lx5z 2017-05-28 23:23:03+00:00 peter owl:Class HP:0031075 biolink:NamedThing Abnormal response to insulin tolerance test An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level. hp0009lx5z 2017-05-28 23:17:20+00:00 peter owl:Class HP:0000478 biolink:NamedThing Abnormality of the eye Any abnormality of the eye, including location, spacing, and intraocular abnormalities. hp0009lx5z Eye disease|Abnormality of the eye|Abnormal eye MSH:D005128|SNOMEDCT_US:371409005|SNOMEDCT_US:19416009|UMLS:C0015393|MSH:D005124|UMLS:C0015397|SNOMEDCT_US:371405004 human_phenotype owl:Class HP:0030660 biolink:NamedThing Furcate cord insertion Branching of the umbilical cord before its insertion into the placenta. hp0009lx5z UToronto:chum UMLS:C4073116 owl:Class HP:0410206 biolink:NamedThing Increased circulating nicotinurate level An increased amount of nicotinurate in the blood. hp0009lx5z Increased circulating N-nicotinoylglycine level 2018-09-11 23:40:36+00:00 owl:Class HP:0033739 biolink:NamedThing Secondary vesicoureteral reflux Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction. hp0009lx5z 2021-04-16 14:09:07+00:00 This term can be used together with a term to describe the grade of VUR. peter owl:Class HP:0012277 biolink:NamedThing Hypoglycinemia An abnormally reduced concentration of glycine in the blood. hp0009lx5z Low blood glycine levels peter 2013-04-07T03:54:41Z UMLS:C4022973 human_phenotype owl:Class HP:0010895 biolink:NamedThing Abnormal circulating glycine concentration Any deviation from the normal concentration of glycine in the blood circulation. hp0009lx5z peter 2010-11-30T05:27:24Z UMLS:C4023670 human_phenotype owl:Class HP:0003554 biolink:NamedThing Type 2 muscle fiber atrophy Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. hp0009lx5z Type 2 muscle fibre atrophy|Type 2 fibre atrophy|Type 2 fiber atrophy This finding can be demonstrated by muscle biopsy. UMLS:C1864580 human_phenotype owl:Class HP:0100295 biolink:NamedThing Muscle fiber atrophy hp0009lx5z Muscle fibre atrophy|Muscle fiber degeneration|Muscle fibre degeneration doelkens 2010-08-10T01:58:24Z HP:0100294 UMLS:C0333751|SNOMEDCT_US:67867005 human_phenotype owl:Class HP:0032837 biolink:NamedThing Bilateral asymmetric neonatal sequential seizure Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. hp0009lx5z No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. peter owl:Class HP:0031866 biolink:NamedThing Clasp-knife sign Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife. hp0009lx5z 2018-05-05 21:28:20+00:00 peter owl:Class HP:0500075 biolink:NamedThing Dissociated horizontal deviation A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes. hp0009lx5z 2018-02-26 18:53:28+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0500073 biolink:NamedThing Abnormal ocular alignment Any deviation from the normal ocular alignment. hp0009lx5z 2018-02-26 18:50:33+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0004971 biolink:NamedThing Pulmonary artery hypoplasia Underdevelopment of the pulmonary artery. hp0009lx5z Underdeveloped lung artery|Underdeveloped pulmonary artery Fyler:2966|UMLS:C0265910|SNOMEDCT_US:54682008 human_phenotype owl:Class HP:0200056 biolink:NamedThing Macular scar Scar tissue in the macula. hp0009lx5z Macular scarring sebastiankohler 2012-11-18T11:09:09Z HP:0007949 SNOMEDCT_US:18410006|UMLS:C0423428 human_phenotype owl:Class HP:0011670 biolink:NamedThing Left superior vena cava draining to coronary sinus A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. hp0009lx5z peter 2012-04-09T12:02:58Z ICD-10:Q26.1|UMLS:C2677768 owl:Class HP:0004990 biolink:NamedThing Epiphyseal streaking hp0009lx5z UMLS:C1858039 human_phenotype owl:Class HP:0006077 biolink:NamedThing Absent proximal finger flexion creases Absence of the proximal interphalangeal flexion creases of the fingers. hp0009lx5z UMLS:C1850048 human_phenotype owl:Class HP:0006109 biolink:NamedThing Absent phalangeal crease Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). hp0009lx5z Aplasia of the interphalangeal creases|Absent interphalangeal creases HP:0006031 UMLS:C1862479|UMLS:C4020821 human_phenotype owl:Class HP:0009227 biolink:NamedThing Broad proximal phalanx of the 5th finger Increased width of the proximal phalanx of the 5th finger. hp0009lx5z Broad innermost pinkie finger bone|Broad innermost pinky finger bone|Wide proximal phalanx of the 5th finger|Broad innermost little finger bone doelkens 2009-01-05T06:11:33Z UMLS:C4021508 human_phenotype owl:Class HP:0009374 biolink:NamedThing Broad phalanges of the 5th finger Increased width of the phalanges of the 5th finger. hp0009lx5z Broad pinkie finger bones|Broad pinky finger bones|Broad little finger bones doelkens 2009-01-13T10:55:04Z UMLS:C4024412 human_phenotype owl:Class HP:0003874 biolink:NamedThing Humerus varus hp0009lx5z UMLS:C4025537 human_phenotype owl:Class HP:0040317 biolink:NamedThing Blue urine An abnormal blue color of the urine. hp0009lx5z Blue or green urine coloration may be observed due to certain dyes used for tests of kidney and bladder function, some medications, and disorders including familial benign hypercalcemia and urinary tract infections caused by pseudomonas bacteria. ORCID:0000-0002-5316-1399 owl:Class HP:0033019 biolink:NamedThing Male reproductive system neoplasm A neoplasm that affects the male reproductive system. hp0009lx5z peter NCIT:C3054 owl:Class HP:0200128 biolink:NamedThing Biventricular hypertrophy Thickening of the heart walls in both ventricles. hp0009lx5z sebastiankohler 2013-06-11T11:28:46Z UMLS:C0281788 human_phenotype owl:Class HP:0001714 biolink:NamedThing Ventricular hypertrophy Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. hp0009lx5z HP:0005167 UMLS:C0340279|SNOMEDCT_US:266249003 human_phenotype owl:Class HP:0009355 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger. hp0009lx5z Speckled calcifications in end part of innermost long bone of the middle finger doelkens 2009-01-12T11:19:03Z UMLS:C4024414 human_phenotype owl:Class HP:0031117 biolink:NamedThing Purely bicuspid aortic valve A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis. hp0009lx5z 2017-06-10 11:41:29+00:00 peter owl:Class HP:0032859 biolink:NamedThing Focal impaired awareness motor seizure with paresis/paralysis A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure. hp0009lx5z Focal motor impaired awareness seizure with paresis/paralysis peter owl:Class HP:0002080 biolink:NamedThing Intention tremor A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). hp0009lx5z Cerebellar tremor|Terminal tremor UMLS:C0234376|MSH:D014202|UMLS:C4020856|SNOMEDCT_US:30721006 human_phenotype owl:Class HP:0030186 biolink:NamedThing Kinetic tremor Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. hp0009lx5z Essential tremor SNOMEDCT_US:609558009|SNOMEDCT_US:30721006|MSH:D020329|UMLS:C0234376|UMLS:C0270736|MSH:D014202 owl:Class HP:0011283 biolink:NamedThing Abnormal metencephalon morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. hp0009lx5z Abnormality of the metencephalon peter 2012-01-01T01:24:14Z UMLS:C4023432 owl:Class HP:0011282 biolink:NamedThing Abnormality of hindbrain morphology An abnormality of the hindbrain, also known as the rhombencephalon. hp0009lx5z Abnormal shape of hindbrain|Abnormality of the hindbrain The hindbrain consists of two main structures: The pons and the cerebellum. peter 2012-01-01T01:22:36Z UMLS:C4021170 human_phenotype owl:Class HP:0004570 biolink:NamedThing Increased vertebral height Increased top to bottom height of vertebral bodies. hp0009lx5z Tall vertebral bodies HP:0005693 UMLS:C1864853 human_phenotype owl:Class HP:0033311 biolink:NamedThing Abdominal aortic dissection A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers. hp0009lx5z 2020-11-28 22:39:58+00:00 peter owl:Class HP:0003051 biolink:NamedThing Enlarged metaphyses Abnormal increase in size of one or more metaphyses. hp0009lx5z Enlarged wide portion of a long bone HP:0005018 UMLS:C1855544 human_phenotype owl:Class HP:0005419 biolink:NamedThing Decreased T cell activation Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. hp0009lx5z Decreased T-cell activation|Defective T cell activation|Decreased T-lymphocyte activation|Decreased T lymphocyte activation|Profound depletion of T4+ lymphocytes HP:0005370|HP:0005436 UMLS:C1846550 human_phenotype owl:Class HP:0410035 biolink:NamedThing Abnormal T cell activation Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. hp0009lx5z Abnormal T-cell activation|Abnormal T-lymphocyte activation|Abnormal T lymphocyte activation 2017-06-22 19:07:54+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0012420 biolink:NamedThing Meconium stained amniotic fluid Amniotic fluid containing the earliest stools of a mammalian infant. hp0009lx5z Meconium-stained amniotic fluid|Meconium staining of amniotic fluid Meconium may be expelled into the amniotic fluid before birth in response to fetal distress. If meconium is aspirated by the fetus, it may lead to meconium aspiration syndrome. peter 2013-11-10T06:01:40Z SNOMEDCT_US:249135009|UMLS:C0426209|SNOMEDCT_US:168092006 human_phenotype owl:Class HP:0033066 biolink:NamedThing Severe albuminuria The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol). hp0009lx5z Heavy albuminuria peter owl:Class HP:0032973 biolink:NamedThing Abnormal bronchoalveolar lavage fluid morphology Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. hp0009lx5z Red blood cells in the BAL fluid are noted (e.g. present in pulmonary hemorrhage syndromes), but not counted, Similarly epithelial cells are only noted, not included numerically into cell differential. peter owl:Class HP:0001117 biolink:NamedThing Sudden loss of visual acuity Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. hp0009lx5z Sudden central visual loss|Sudden decrease in vision UMLS:C4280600|UMLS:C4072828|UMLS:C4025803 human_phenotype owl:Class HP:0006755 biolink:NamedThing Cutaneous leiomyosarcoma The presence of leiomyosarcoma of the skin. hp0009lx5z UMLS:C0346067|SNOMEDCT_US:254771006|NCIT:C3158 human_phenotype owl:Class HP:0008808 biolink:NamedThing High iliac wing Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). hp0009lx5z Narrow, high iliac wings|High iliac wings HP:0008778 UMLS:C1969680 owl:Class HP:0011867 biolink:NamedThing Abnormal iliac wing morphology An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. hp0009lx5z Abnormality of the wing of the ilium peter 2012-05-28T07:23:30Z UMLS:C4023156 owl:Class HP:0033368 biolink:NamedThing Platypnea A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position. hp0009lx5z 2020-12-16 11:55:39+00:00 peter owl:Class HP:0000019 biolink:NamedThing Urinary hesitancy Difficulty in beginning the process of urination. hp0009lx5z Difficulty with flow SNOMEDCT_US:5972002|UMLS:C0152032 human_phenotype owl:Class HP:0002697 biolink:NamedThing Parietal foramina The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. hp0009lx5z Openings in parietal bones|Holes in parietal bones|Persistent foramina of the parietal bones Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy. UMLS:C4280556|UMLS:C0222706|SNOMEDCT_US:11240000|SNOMEDCT_US:29307005 human_phenotype owl:Class HP:0012079 biolink:NamedThing Abnormality of central motor conduction Any anomaly of the conduction of motor nerve impulses in the central nervous system. hp0009lx5z Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibres in the corticospinal tracts. peter 2012-08-18T04:41:05Z UMLS:C4023055 owl:Class HP:0012491 biolink:NamedThing Abnormal dense tubular system An anomaly of the intracellular membrane complexes known as the dense tubular system. hp0009lx5z The dense tubular system (DTS) functions to regulate platelet activation by sequestering or releasing calcium, similar to the sarcotubules of skeletal muscle. In resting platelets, the DTS exists as thin elongated membranes. Within 10 seconds of the addition of thrombin, platelets show a major ultrastructural change in their DTS: from the thin elongated form to a rounded vesicular form. peter 2013-11-29T09:35:44Z UMLS:C4022881 human_phenotype owl:Class HP:0011875 biolink:NamedThing Abnormal platelet morphology An anomaly in platelet form, ultrastructure, or intracellular organelles. hp0009lx5z Abnormal shape of platelets peter 2012-05-31T03:43:59Z UMLS:C0855742 human_phenotype owl:Class HP:0010539 biolink:NamedThing Thin calvarium The presence of an abnormally thin calvarium. hp0009lx5z Thin skull bone|Thin cranial bone peter 2009-09-21T10:21:29Z UMLS:C4280379|UMLS:C1856231 human_phenotype owl:Class HP:5000035 biolink:NamedThing Anti-TRIM46 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46). hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0011399 biolink:NamedThing Tibialis atrophy Atrophy of the tibialis muscle. hp0009lx5z Tibialis muscle degeneration peter 2012-03-12T06:15:40Z UMLS:C4023375 human_phenotype owl:Class HP:0008944 biolink:NamedThing Distal lower limb amyotrophy Muscular atrophy of distal leg muscles. hp0009lx5z Muscle atrophy, lower limb, distal|Lower limb degeneration|Lower limb atrophy|Lower leg amyotrophy|Lower limb muscle hypotrophy Distal lower limb muscle atrophy is commonly due to peripheral neuropathy. HP:0003714|HP:0008949|HP:0009001|HP:0003442|HP:0006975 UMLS:C3806644|UMLS:C1866863|UMLS:C1836451 human_phenotype owl:Class HP:0500229 biolink:NamedThing Abnormal CSF glycine concentration Any deviation from the normal concentration of glycine in the cerebrospinal fluid. hp0009lx5z Abnormal glycine levels in cerebrospinal fluid 2019-02-25 20:40:09+00:00 owl:Class HP:0500225 biolink:NamedThing Abnormal CSF serine family amino acid concentration Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid. hp0009lx5z Abnormal serine-family amino acid levels in cerebrospinal fluid 2019-02-25 20:27:34+00:00 owl:Class HP:0005541 biolink:NamedThing Congenital agranulocytosis Congenital onset of a marked decrease in the number of granulocytes. hp0009lx5z MSH:C537592|UMLS:C1853118|SNOMEDCT_US:89655007 human_phenotype owl:Class HP:0008291 biolink:NamedThing Pituitary corticotropic cell adenoma A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). hp0009lx5z ACTH-producing pituitary adenoma|Corticotropin-secreting pituitary adenoma UMLS:C1306214|SNOMEDCT_US:254958004|SNOMEDCT_US:21109002|MSH:D049913 human_phenotype owl:Class HP:0033261 biolink:NamedThing Renal artery aneurysm Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. hp0009lx5z 2020-11-28 14:56:45+00:00 peter owl:Class HP:0001302 biolink:NamedThing Pachygyria Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. hp0009lx5z Fewer and broader ridges in brain|Cerebral pachygyria UMLS:C0266483|MSH:D054082|SNOMEDCT_US:23024003 human_phenotype owl:Class HP:0041048 biolink:NamedThing Decreased expression of GPI-anchored proteins on the cell surface A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis. hp0009lx5z owl:Class HP:0002044 biolink:NamedThing Zollinger-Ellison syndrome A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. hp0009lx5z Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1. MSH:D015043|MEDDRA:10048281|UMLS:C0043515|SNOMEDCT_US:53132006 human_phenotype owl:Class HP:0005625 biolink:NamedThing Osteoporosis of vertebrae Osteoporosis affecting predominantly the vertebrae. hp0009lx5z UMLS:C4025170 human_phenotype owl:Class HP:0040161 biolink:NamedThing Localized osteoporosis hp0009lx5z Localised osteoporosis UMLS:C1398367 owl:Class HP:0003858 biolink:NamedThing Cortical diaphyseal irregularity of the upper limbs hp0009lx5z UMLS:C4025549 human_phenotype owl:Class HP:0012595 biolink:NamedThing Mild proteinuria Mildly increased levels of protein in the urine (150-500 mg per day in adults). hp0009lx5z peter 2014-01-16T05:55:47Z UMLS:C4022832 human_phenotype owl:Class HP:0002843 biolink:NamedThing Abnormal T cell morphology An abnormality of T cells. hp0009lx5z Cellular immune defect|Defective cellular immunity|Abnormal T cells|Abnormality of T cells T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity. HP:0002734|HP:0030332 UMLS:C1855752 human_phenotype owl:Class HP:0000430 biolink:NamedThing Underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi. hp0009lx5z Nasal cartilage hypoplasia|Hypoplastic nares|Thin hypoplastic alae nasi|Hypoplastic alae nasae|Hypoplastic alae nasi|Ala nasi, underdeveloped|Hypoplastic nostrils|Hypoplastic nasal alae|Hypoplastic alar nasae|Decreased size of nasal alae|Hypoplastic nasal wings|Hypoplastic alar cartilage|Underdeveloped tissue around nostril|Alar cartilage hypoplasia|Small nasal alae The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed. HP:0004507|HP:0004497|HP:0005286|HP:0005276|HP:0005277 UMLS:C1834055 human_phenotype owl:Class HP:0009924 biolink:NamedThing Aplasia/Hypoplasia involving the nose Underdevelopment or absence of the nose or parts thereof. hp0009lx5z Hypotrophic nose|Hypoplasia of the nose|Decreased nasal size|Decreased size of nose peter 2009-05-05T06:44:04Z SNOMEDCT_US:204519007|UMLS:C0685684|UMLS:C4280392|SNOMEDCT_US:93278002|UMLS:C4024159 human_phenotype owl:Class HP:0002947 biolink:NamedThing Cervical kyphosis Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. hp0009lx5z Rounded neck UMLS:C0575170|SNOMEDCT_US:298393001 human_phenotype owl:Class HP:0005905 biolink:NamedThing Abnormal cervical curvature The presence of an abnormal curvature of the cervical vertebral column. hp0009lx5z Abnormal neck curve UMLS:C3151523 human_phenotype owl:Class HP:0030190 biolink:NamedThing Oral motor hypotonia Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior. hp0009lx5z UMLS:C4022592 owl:Class HP:0009358 biolink:NamedThing Abnormality of the proximal phalanx of the 3rd finger hp0009lx5z Abnormality of proximal middle-finger phalanx|Abnormal innermost bone of middle finger doelkens 2009-01-12T11:42:37Z HP:0004167 UMLS:C4021485 human_phenotype owl:Class HP:0005446 biolink:NamedThing Obtuse angle of mandible Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal. hp0009lx5z Steep mandibular plane angle|High mandibular plane angle See PMID:17213440 Figure 1G for an example of an obtuse mandibular angle. UMLS:C4038738|SNOMEDCT_US:709997007 human_phenotype owl:Class HP:0003890 biolink:NamedThing Prominent deltoid tuberosities hp0009lx5z UMLS:C2674600 human_phenotype owl:Class HP:0003889 biolink:NamedThing Abnormality of the deltoid tuberosities hp0009lx5z UMLS:C4025527 human_phenotype owl:Class HP:0012019 biolink:NamedThing Lens luxation Complete dislocation of the lens of the eye. hp0009lx5z Dislocated lens|Dislocated lenses peter 2012-07-26T10:40:02Z MSH:D007906|UMLS:C0023309 human_phenotype owl:Class HP:0011468 biolink:NamedThing Facial tics Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. hp0009lx5z Spasms of facial muscles|Myoclonus of facial muscles|Facial tics|Muscle spasm of face|Cramping of facial muscles|Involuntary facial muscle spasms|Mimic spasms|Facial spasms|Twitching of facial muscles|Jerking of facial muscles peter 2012-03-25T07:45:47Z UMLS:C0858722|UMLS:C4280324|SNOMEDCT_US:230335009|UMLS:C0278151|UMLS:C0338467|SNOMEDCT_US:32402008|UMLS:C4280325 human_phenotype owl:Class HP:0005324 biolink:NamedThing Disturbance of facial expression An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. hp0009lx5z Disturbance of facial expression UMLS:C4025215 human_phenotype owl:Class HP:0200021 biolink:NamedThing Down-sloping shoulders Low set, steeply sloping shoulders. hp0009lx5z Rounded, sloping shoulders|Rounded shoulders|Down-sloping shoulders|Sloping shoulders sebastiankohler 2010-06-16T02:15:20Z HP:0006663|HP:0001556 UMLS:C1856872 human_phenotype owl:Class HP:0009301 biolink:NamedThing Short proximal phalanx of the 4th finger Hypoplastic/small proximal phalanx of the fourth finger. hp0009lx5z Hypoplastic/small proximal phalanx of the 4th finger|Short innermost bone of the ring finger|Short proximal phalanx of the fourth finger doelkens 2009-01-08T04:29:38Z UMLS:C4021496 human_phenotype owl:Class HP:0030823 biolink:NamedThing Scleral thickening Increased dimension of the sclera in the anterior-posterior axis. hp0009lx5z Thick sclera UMLS:C2674403 owl:Class HP:0032232 biolink:NamedThing Increased circulating creatine kinase MB isoform An increased concentration of the MB isoform of creatine kinase in the blood circulation. hp0009lx5z Increased circulating CK MB isoform 2019-01-26 17:05:00+00:00 All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. peter owl:Class HP:0040081 biolink:NamedThing Abnormal circulating creatine kinase concentration Any deviation from the normal circulating creatine kinase concentration. hp0009lx5z Abnormal levels of creatine kinase in blood|Abnormal circulating CK concentration|Abnormal circulating CPK concentration|Abnormal circulation phospho-CK concentration HPO:skoehler UMLS:C4022449 owl:Class HP:0002841 biolink:NamedThing Recurrent fungal infections Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection. hp0009lx5z Recurrent fungal infections HP:0005380|HP:0005350|HP:0005388 UMLS:C1844384 human_phenotype owl:Class HP:0032662 biolink:NamedThing Focal-onset seizure evolving into bilateral convulsive status epilepticus A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. hp0009lx5z Focal onset seizure evolving into bilateral convulsive status epilepticus|Secondarily generalized convulsive status epilepticus|Partial onset seizure evolving into convulsive status epilepticus|Focal-onset seizure evolving into generalised convulsive status epilepticus|Secondarily generalised convulsive status epilepticus|Partial-onset seizure evolving into convulsive status epilepticus|Secondarily generalized tonic-clonic status epilepticus|Secondarily generalised tonic-clonic status epilepticus|Focal-onset seizure evolving into generalized convulsive status epilepticus peter owl:Class HP:0009118 biolink:NamedThing Aplasia/Hypoplasia of the mandible Absence or underdevelopment of the mandible. hp0009lx5z 2008-04-05T10:57:00Z UMLS:C3494426|UMLS:C4280261|MSH:D063173|UMLS:C4280401|UMLS:C4024589|UMLS:C4021371 human_phenotype owl:Class HP:0009116 biolink:NamedThing Aplasia/Hypoplasia involving bones of the skull hp0009lx5z peter 2008-04-05T10:53:00Z UMLS:C4024591 human_phenotype owl:Class HP:0006742 biolink:NamedThing Congenital neuroblastoma hp0009lx5z UMLS:C4024986 human_phenotype owl:Class HP:0003006 biolink:NamedThing Neuroblastoma Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. hp0009lx5z Cancer of early nerve cells HP:0006738 UMLS:C0027819|NCIT:C3270|MSH:D009447|SNOMEDCT_US:87364003|SNOMEDCT_US:432328008 human_phenotype owl:Class HP:0007199 biolink:NamedThing Progressive spastic paraparesis hp0009lx5z UMLS:C0747251 human_phenotype owl:Class HP:0020179 biolink:NamedThing Abnormal haptoglobin level A deviation from the normal concentration of haptoglobin in the blood circulation. hp0009lx5z Haptoglobin is primarily produced in the liver and is functionally important for binding free hemoglobin fromlysed red cells in vivo, preventing its toxic effects. robinp 2019-07-11 20:28:25+00:00 owl:Class HP:0006762 biolink:NamedThing Renal pelvic carcinoma The presence of a carcinoma in the renal pelvis. hp0009lx5z NCIT:C2916|UMLS:C4024983 human_phenotype owl:Class HP:0002153 biolink:NamedThing Hyperkalemia An abnormally increased potassium concentration in the blood. hp0009lx5z Elevated serum potassium levels UMLS:C0020461|MSH:D006947|SNOMEDCT_US:166689004|SNOMEDCT_US:238142003|SNOMEDCT_US:14140009 human_phenotype owl:Class HP:0011042 biolink:NamedThing Abnormal blood potassium concentration An abnormal concentration of potassium. hp0009lx5z Abnormality of potassium homeostasis|Abnormal blood K concentration peter 2011-03-09T11:00:32Z UMLS:C4023575 human_phenotype owl:Class HP:0100021 biolink:NamedThing Cerebral palsy Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. hp0009lx5z CP|Cerebral paralysis doelkens 2010-05-28T11:46:16Z MSH:D002547|SNOMEDCT_US:128188000|UMLS:C0007789 owl:Class HP:0012447 biolink:NamedThing Abnormal myelination Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. hp0009lx5z peter 2013-11-23T03:45:58Z UMLS:C1857704 human_phenotype owl:Class HP:0012639 biolink:NamedThing Abnormal nervous system morphology A structural anomaly of the nervous system. hp0009lx5z Abnormal shape of nervous system|Abnormal nervous system morphology|Abnormality of nervous system morphology peter 2014-01-19T08:03:08Z Fyler:4135|Fyler:4300|UMLS:C4022810 human_phenotype owl:Class HP:0032388 biolink:NamedThing Periventricular nodular heterotopia Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple. hp0009lx5z 2019-02-24 15:59:43+00:00 peter owl:Class HP:0007165 biolink:NamedThing Periventricular heterotopia A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. hp0009lx5z Subependymal neuronal heterotopia|Subependymal grey matter heterotopia|Subependymal gray matter heterotopia|Periventricular grey matter heterotopia|Periventricular gray matter heterotopia|Periventricular neuronal heterotopia Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome. HP:0002272 UMLS:C1849173 human_phenotype owl:Class HP:0011233 biolink:NamedThing Antihelical shelf Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha. hp0009lx5z Conchal shelf In marked cases this often appears to be associated with lack of lateral protrusion of the antihelix. peter 2011-12-15T07:03:37Z UMLS:C4021197 human_phenotype owl:Class HP:0009738 biolink:NamedThing Abnormality of the antihelix An abnormality of the antihelix. hp0009lx5z Abnormal antihelix|Abnormal antehelix|Abnormal anthelix An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis. peter 2009-01-31T12:39:37Z UMLS:C4021395 human_phenotype owl:Class HP:0410394 biolink:NamedThing Increased proportion of effector memory CD4-positive, alpha-beta T cells An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z owl:Class HP:0033287 biolink:NamedThing Glomerular basement membrane lucencies Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. hp0009lx5z 2020-11-28 21:13:41+00:00 This feature can be observed on silver staining or electron microscopy. peter owl:Class HP:0006532 biolink:NamedThing Recurrent pneumonia An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. hp0009lx5z Pneumonia, recurrent episodes|pulmonary infections, recurrent|Pneumonia, recurrent|Multiple pulmonary infections|Pulmonary infections|Pulmonary infection|Recurrent pneumonia|Recurrent pulmonary infections Recurrent pneumonia is defined as two or more episodes in a single year, or at least three episodes ever, with radiographic clearing of densities between occurrences. HP:0002096|HP:0002095 UMLS:C0694550|UMLS:C1859117|UMLS:C0748140|SNOMEDCT_US:699014000|UMLS:C0876973|SNOMEDCT_US:128601007 human_phenotype owl:Class HP:0001870 biolink:NamedThing Acroosteolysis of distal phalanges (feet) hp0009lx5z Acroosteolysis of distal phalanges of feet UMLS:C4025739 human_phenotype owl:Class HP:0001842 biolink:NamedThing Foot acroosteolysis hp0009lx5z Acroosteolysis of feet UMLS:C4025744 human_phenotype owl:Class HP:0011033 biolink:NamedThing Impairment of fructose metabolism An impairment of a fructose metabolic process. hp0009lx5z peter 2011-03-05T10:06:29Z UMLS:C4023581 human_phenotype owl:Class HP:0001402 biolink:NamedThing Hepatocellular carcinoma A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. hp0009lx5z Increased incidence of hepatocellular carcinoma|Increased hepatocellular carcinoma risk Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis. HP:0003007|HP:0006750|HP:0002899 SNOMEDCT_US:109841003|UMLS:C1867955|UMLS:C2239176|SNOMEDCT_US:187769009|UMLS:C1862761|MSH:D006528|SNOMEDCT_US:25370001|NCIT:C3099 human_phenotype owl:Class HP:0008112 biolink:NamedThing Plantar flexion contractures hp0009lx5z UMLS:C1861239 human_phenotype owl:Class HP:0008366 biolink:NamedThing Contractures involving the joints of the feet hp0009lx5z Contractures of the foot joints peter 2008-04-04T11:44:00Z UMLS:C0343149|SNOMEDCT_US:239742004 human_phenotype owl:Class HP:0410319 biolink:NamedThing Alpha-gal allergy Hypersensitivity in form of an adverse immune reaction against alpha-gal. hp0009lx5z Immunoglobulin E-mediated alpha-gal allergy|Alpha-gal allergy|Allergy to alpha-gal|IgE-mediated alpha-gal allergy owl:Class HP:0030789 biolink:NamedThing Excessive cerumen An increased quantity of earwax. hp0009lx5z This feature is not necessarily associated with impacted cerumen, which if present should be coded separately. UMLS:C1382811 owl:Class HP:0100761 biolink:NamedThing Visceral angiomatosis hp0009lx5z doelkens 2011-06-07T10:33:09Z UMLS:C4021977 human_phenotype owl:Class HP:0007461 biolink:NamedThing Hemangiomatosis hp0009lx5z UMLS:C1384590|SNOMEDCT_US:254785001|SNOMEDCT_US:47669001 human_phenotype owl:Class HP:0009795 biolink:NamedThing Branchial fistula A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. hp0009lx5z Branchial cleft fistula peter 2009-02-11T05:17:12Z SNOMEDCT_US:204268008|UMLS:C0546968 human_phenotype owl:Class HP:0032649 biolink:NamedThing Skewfoot A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus. hp0009lx5z Skew-foot|Skew foot Operative indications include pain, intractable calluses, and shoe and orthotic problems. peter owl:Class HP:0001763 biolink:NamedThing Pes planus A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. hp0009lx5z Flat feet|Flat foot|Dropped arches|Fallen arches 'has part' some (flat and ('inheres in' some 'Longitudinal arch of foot (adult human)') and ('has modifier' some abnormal)) SNOMEDCT_US:203534009|MSH:D005413|UMLS:C0264133|SNOMEDCT_US:53226007|UMLS:C0016202 human_phenotype owl:Class HP:0009598 biolink:NamedThing Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal. hp0009lx5z Fused innermost bone of index finger with 2nd long bone of hand doelkens 2009-01-29T10:21:45Z UMLS:C4024274 human_phenotype owl:Class HP:0009586 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 2nd finger Fusion of the proximal phalanx of the 2nd finger with another bone. hp0009lx5z Fused innermost bone of index finger doelkens 2009-01-28T05:26:39Z UMLS:C4024277 human_phenotype owl:Class HP:0011603 biolink:NamedThing Congenital malformation of the great arteries Defect or defects of the morphogenesis of the aorta and pulmonary arteries. hp0009lx5z peter 2012-04-08T02:51:09Z UMLS:C0478012 human_phenotype owl:Class HP:0031947 biolink:NamedThing Tongue tremor An unintentional, oscillating to-and-fro muscle movement affecting the tongue. hp0009lx5z Jerky movements of the tongue 2018-07-06 12:11:14+00:00 peter owl:Class HP:0003270 biolink:NamedThing Abdominal distention Distention of the abdomen. hp0009lx5z Abdominal swelling|Bloating|Abdominal distension|Distended abdomen|Abdominal bloating|Belly bloating Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction. HP:0003364|HP:0001542 SNOMEDCT_US:41931001|SNOMEDCT_US:60728008|UMLS:C0000731 human_phenotype owl:Class HP:0005197 biolink:NamedThing Generalized morning stiffness A sensation of stiffness in the joints that occurs following waking up in the morning. hp0009lx5z Generalised morning stiffness UMLS:C4025238 human_phenotype owl:Class HP:0001387 biolink:NamedThing Joint stiffness Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. hp0009lx5z Stiff joint|Stiff joints|Joint stiffness HP:0002775|HP:0003033 UMLS:C0162298|SNOMEDCT_US:84445001 human_phenotype owl:Class HP:0007688 biolink:NamedThing Undetectable light- and dark-adapted electroretinogram Absence of the combined rod-and-cone response on electroretinogram. hp0009lx5z Absent rod-and cone-mediated responses on ERG|Absent cone and rod functions by electroretinogram HP:0008280|HP:0003230 UMLS:C4021570 human_phenotype owl:Class HP:0008323 biolink:NamedThing Abnormal light- and dark-adapted electroretinogram An abnormality of the combined rod-and-cone response on electroretinogram. hp0009lx5z Abnormal rod and cone electroretinogram The dark-adapted 3.0 ERG can be used to elicit a combined rod-cone response. UMLS:C3151111 human_phenotype owl:Class HP:0007076 biolink:NamedThing Extrapyramidal muscular rigidity Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). hp0009lx5z This is a classic type of extrapyramidal movement disorder. UMLS:C1852470 human_phenotype owl:Class HP:0004611 biolink:NamedThing Anterior concavity of thoracic vertebrae hp0009lx5z Anteriorly concave vertebrae UMLS:C1839822 human_phenotype owl:Class HP:0004619 biolink:NamedThing Lumbar kyphoscoliosis hp0009lx5z UMLS:C1834953 human_phenotype owl:Class HP:0008454 biolink:NamedThing Lumbar kyphosis Over curvature of the lumbar region. hp0009lx5z Rounded lower back|Lumbar gibbus deformity HP:0008487 UMLS:C1844818 human_phenotype owl:Class HP:0008478 biolink:NamedThing Scheuermann-like vertebral changes hp0009lx5z UMLS:C1844926 human_phenotype owl:Class HP:0010891 biolink:NamedThing Morbus Scheuermann A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays). hp0009lx5z Sherman's Disease|Scheuermann kyphosis|Calve disease|Scheuermann disease|Juvenile Osteochondrosis of the spine Scheuermann's disease usually manifests during the 2nd decade and leads to the appearance of the so called adolescence kyphosis. Late manifestations may be wedge-shaped vertebrae, platyspondyly and arthrosis affecting the verterbal collum. sdoelken 2010-09-25T11:04:19Z MSH:D012544|UMLS:C0036310|SNOMEDCT_US:53406005 human_phenotype owl:Class HP:0005483 biolink:NamedThing Abnormal epiglottis morphology An abnormality of the epiglottis. hp0009lx5z Abnormality of the epiglottis peter 2008-03-26T08:25:00Z UMLS:C4025190 human_phenotype owl:Class HP:0009786 biolink:NamedThing Aplasia/Hypoplasia of the musculature of the thigh Absence or underdevelopment involving the musculature of the thigh. hp0009lx5z Absent/small thigh muscles|Absent/underdeveloped thigh muscles peter 2009-02-03T05:16:42Z UMLS:C4024207 human_phenotype owl:Class HP:0005878 biolink:NamedThing Enlarged sagittal diameter of the cervical canal hp0009lx5z UMLS:C4025118 owl:Class HP:0008144 biolink:NamedThing Flattening of the talar dome hp0009lx5z UMLS:C1843986 human_phenotype owl:Class HP:0032977 biolink:NamedThing Elevated bronchoalveolar lavage fluid neutrophil proportion Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. hp0009lx5z Elevated level of neutrophils in broncho-alveolar lavage fluid peter owl:Class HP:0011731 biolink:NamedThing Abnormality of circulating cortisol level An abnormality of the concentration of cortisol in the blood. hp0009lx5z peter 2012-04-21T07:59:26Z UMLS:C4023214 human_phenotype owl:Class HP:0005441 biolink:NamedThing Sclerotic cranial sutures An increased density in the cranial sutures following obliteration. hp0009lx5z UMLS:C4025195 human_phenotype owl:Class HP:0012762 biolink:NamedThing Cerebral white matter atrophy The presence of atrophy (wasting) of the cerebral white matter. hp0009lx5z hecht 2014-04-06T10:55:36Z UMLS:C4022735 human_phenotype owl:Class HP:0100355 biolink:NamedThing Contractures of the distal interphalangeal joint of the 5th toe The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively. hp0009lx5z Contracture of the outermost hinge joint of the 5th toe UMLS:C4022130 human_phenotype owl:Class HP:0010345 biolink:NamedThing Flexion contracture of the 5th toe One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively. hp0009lx5z Joint contractures of the 5th toe doelkens 2009-07-16T11:41:49Z UMLS:C4021290 human_phenotype owl:Class HP:0001808 biolink:NamedThing Fragile nails Nails that easily break. hp0009lx5z Brittle nails HP:0001796 UMLS:C1856963 owl:Class HP:0100410 biolink:NamedThing Complete duplication of the middle phalanx of the 3rd toe Complete duplication of middle phalanx of third toe. hp0009lx5z Complete duplication of the middle bone of the 3rd toe|Complete duplication of the middle phalanx of the third toe UMLS:C4020987 human_phenotype owl:Class HP:0100401 biolink:NamedThing Duplication of the middle phalanx of the 3rd toe Partial or complete duplication of middle phalanx of third toe. hp0009lx5z Duplication of the middle phalanx of the third toe|Partial/complete duplication of the middle phalanx of the 3rd toe|Duplication of the middle bone of the 3rd toe UMLS:C4020996 human_phenotype owl:Class HP:0033880 biolink:NamedThing Arcuate vein intimal mucoid edema Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. hp0009lx5z Intimal mucoid edema within arcuate veins 2021-06-23 19:35:40+00:00 peter owl:Class HP:0031886 biolink:NamedThing Abnormal LDL cholesterol concentration Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. hp0009lx5z Abnormal LDLc concentration|Abnormal LDL-C concentration|Abnormal LDL-C level 2018-05-13 14:27:13+00:00 peter owl:Class HP:0011551 biolink:NamedThing Right sided atrium to left ventricle and absent left sided atrioventricular connection hp0009lx5z Right sided atrium to left ventricle and absent left sided atrioventricular connexion peter 2012-04-07T11:32:53Z UMLS:C4023303 human_phenotype owl:Class HP:0011325 biolink:NamedThing Pansynostosis Craniosynostosis of all calvarial sutures. hp0009lx5z Sysnostosis of all cranial sutures peter 2012-02-25T01:27:38Z UMLS:C4021827 human_phenotype owl:Class HP:0011324 biolink:NamedThing Multiple suture craniosynostosis Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. hp0009lx5z Multisutural craniosynostosis If possible, it is preferable to annotate the precise pattern of involvement of the cranial sutures involved in craniosynostosis. This term may be chosen if more information is not available. peter 2012-02-25T01:16:13Z UMLS:C4021161 owl:Class HP:0033370 biolink:NamedThing Bronchial telangiectasia Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system. hp0009lx5z Endobronchial telangiectasia 2020-12-16 12:36:41+00:00 Endobronchial telangiectasia may lead to hemoptysis and pulmonary hemorrhage. peter owl:Class HP:0009528 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger hp0009lx5z Fragmentation of end part of innermost long bone of index finger doelkens 2009-01-16T01:12:34Z UMLS:C4024308 human_phenotype owl:Class HP:0031467 biolink:NamedThing Negative affectivity A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. hp0009lx5z 2017-09-17 16:33:45+00:00 peter owl:Class HP:0100580 biolink:NamedThing Barrett esophagus An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. hp0009lx5z Barrett's esophagus|Barrett oesophagus|Endobrachyesophagus|Barrett's oesophagus|Barret syndrome The medical significance of Barrett esophagus is its strong association with esophageal adenocarcinoma, a particularly lethal cancer. doelkens 2010-12-27T01:33:00Z SNOMEDCT_US:302914006|MSH:D001471|UMLS:C0004763 human_phenotype owl:Class HP:0012890 biolink:NamedThing Posteriorly placed anus Posterior malposition of the anus. hp0009lx5z peter 2014-06-23T10:55:41Z UMLS:C4022693 human_phenotype owl:Class HP:0004397 biolink:NamedThing Ectopic anus Abnormal displacement or malposition of the anus. hp0009lx5z Abnormal anus position|Anus malposition peter 2008-03-18T09:13:00Z SNOMEDCT_US:5153001|UMLS:C0266231 human_phenotype owl:Class HP:0033015 biolink:NamedThing Increased salivary cortisol level Abnormally elevated concentration of cortisol in saliva. hp0009lx5z Literature suggests that saliva may provide a more sensitive measure of cortisol than serum or plasma. peter owl:Class HP:0008890 biolink:NamedThing Severe short-limb dwarfism hp0009lx5z UMLS:C1860105 human_phenotype owl:Class HP:0000368 biolink:NamedThing Low-set, posteriorly rotated ears Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358). hp0009lx5z Low-set posteriorly rotated ears This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately. UMLS:C1857486 human_phenotype owl:Class HP:0000358 biolink:NamedThing Posteriorly rotated ears A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). hp0009lx5z Ears rotated toward back of head|Ear, posterior angulation, increased|Posteriorly-rotated ears|Posteriorly rotated|Posteriorly rotated auricles|Posteriorly-angulated ears|Posteriorly angulated ears Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. HP:0008535 UMLS:C0431478|SNOMEDCT_US:253251006 human_phenotype owl:Class HP:0009140 biolink:NamedThing Synostosis involving bones of the feet hp0009lx5z Fusion involving the bones of the feet peter 2008-04-17T02:54:00Z UMLS:C4024575 human_phenotype owl:Class HP:0001734 biolink:NamedThing Annular pancreas A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. hp0009lx5z MSH:C536376|SNOMEDCT_US:40315008|UMLS:C0149955 human_phenotype owl:Class HP:0004262 biolink:NamedThing Abnormality of the capitate bone hp0009lx5z UMLS:C4025384 human_phenotype owl:Class HP:0005005 biolink:NamedThing Femoral bowing present at birth, straightening with time Congenital onset bending or abnormal curvature of the femur that normalizes with age. hp0009lx5z Bowing of thighbone at birth, straightening with time This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement. UMLS:C1833754 human_phenotype owl:Class HP:0033342 biolink:NamedThing Anti-aquaporin 4 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4. hp0009lx5z Anti-AQP4 antibody positivity 2020-11-30 12:48:39+00:00 peter owl:Class HP:0000058 biolink:NamedThing Abnormal labia morphology An anomaly of the labia, the externally visible portions of the vulva. hp0009lx5z Abnormality of the labia UMLS:C4025892 owl:Class HP:0012903 biolink:NamedThing Myotonia of the upper limb Slowed relaxation of muscles in the arm. hp0009lx5z peter 2014-06-23T11:19:18Z UMLS:C4022683 human_phenotype owl:Class HP:0011459 biolink:NamedThing Esophageal carcinoma The presence of a carcinoma of the esophagus. hp0009lx5z peter 2012-03-25T06:55:07Z UMLS:C0152018|SNOMEDCT_US:372138000 human_phenotype owl:Class HP:0012279 biolink:NamedThing Hyposerinemia Reduced concentration of serine in the blood. hp0009lx5z Low blood serine levels peter 2013-04-07T03:57:25Z UMLS:C4022971 human_phenotype owl:Class HP:0033325 biolink:NamedThing Elevated circulating sebacic acid concentration Increased concentration of sebacic acid in the blood circulation. hp0009lx5z 2020-11-29 14:11:41+00:00 peter owl:Class HP:0030417 biolink:NamedThing Squamous cell carcinoma of the vulva A cancer that originates in the squamous cells that line the surface of the vulva. hp0009lx5z Vulval squamous cell carcinoma UMLS:C0280856|SNOMEDCT_US:254895003 owl:Class HP:0011663 biolink:NamedThing Right ventricular cardiomyopathy Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. hp0009lx5z Cardiomyopathy, right ventricular|Cardiomyopathy, esp. right ventricular This feature is most often seen in the disease arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria. peter 2012-04-09T11:14:59Z UMLS:C2063326 human_phenotype owl:Class HP:0040023 biolink:NamedThing Clinodactyly of the thumb hp0009lx5z Curvature of thumb HPO:skoehler UMLS:C1856888|UMLS:C4280297 owl:Class HP:0007709 biolink:NamedThing Band-shaped corneal dystrophy hp0009lx5z SNOMEDCT_US:35055000|UMLS:C0155120|MSH:C562399 human_phenotype owl:Class HP:0009384 biolink:NamedThing Cone-shaped epiphyses of the 5th finger A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. hp0009lx5z Cone-shaped end part of the little finger bones|Cone-shaped end part of the pinky finger bones|Cone-shaped end part of the pinkie finger bones doelkens 2009-01-13T01:19:03Z UMLS:C4024405 human_phenotype owl:Class HP:0025215 biolink:NamedThing Triggered by febrile illness Applies to a sign or symptom that is provoked or brought about by febrile illness. hp0009lx5z Febrile illness triggered symptoms|Triggered by fever 2016-12-10 14:00:39+00:00 HPO:probinson owl:Class HP:0031494 biolink:NamedThing Ovarian mucinous tumor Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma. hp0009lx5z Ovarian mucinous tumour|Mucinous neoplasm of the ovary 2017-09-18 00:44:01+00:00 peter owl:Class HP:0031495 biolink:NamedThing Mucinous neoplasm hp0009lx5z 2017-09-18 00:48:22+00:00 peter owl:Class HP:0030508 biolink:NamedThing Retinal cavernous hemangioma hp0009lx5z Retinal cavernous haemangioma UMLS:C0730304|SNOMEDCT_US:312937006 owl:Class HP:0002529 biolink:NamedThing Neuronal loss in central nervous system hp0009lx5z Neuronal loss|Neuronal loss in CNS|Loss of brain cells This finding can be demonstrated by neuropathology. HP:0002400 UMLS:C1850496 human_phenotype owl:Class HP:0004382 biolink:NamedThing Mitral valve calcification Abnormal calcification of the mitral valve. hp0009lx5z peter 2008-03-18T08:55:00Z HP:0200129|HP:0005149 UMLS:C0919718|SNOMEDCT_US:473372009 owl:Class HP:0005146 biolink:NamedThing Cardiac valve calcification Abnormal calcification of a cardiac valve. hp0009lx5z Calcifications of the cardiac valves UMLS:C1856483 owl:Class HP:0100282 biolink:NamedThing Acute colitis An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum). hp0009lx5z doelkens 2010-08-10T09:26:33Z UMLS:C2118460 human_phenotype owl:Class HP:0005914 biolink:NamedThing Aplasia/Hypoplasia involving the metacarpal bones Aplasia or Hypoplasia affecting the metacarpal bones. hp0009lx5z Absent/small long bones of hand|Metacarpal aplasia/hypoplasia|Hypoplastic metacarpals|Absent/underdeveloped long bones of hand|Aplastic/hypoplastic metacarpals|Absent or hypoplastic metacarpals|Hypoplastic/absent metacarpal bones|Hypoplastic/absent metacarpals peter 2008-03-27T02:14:00Z HP:0006007 UMLS:C1836192 human_phenotype owl:Class HP:0032322 biolink:NamedThing Healthy No history of any serious disease, including the disease being investigated in the proband. hp0009lx5z 2019-02-14 11:49:52+00:00 peter owl:Class HP:0030609 biolink:NamedThing Photoreceptor layer loss on macular OCT Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. hp0009lx5z UMLS:C4073079 owl:Class HP:0033799 biolink:NamedThing Abnormal circulating sex hormone concentration Any deviation from the normal concentration of a sex hormone in the blood circulation hp0009lx5z Abnormal circulating gonadocorticoid concentration|Abnormal circulating gonadal steroid concentration|Abnormal circulating sex steroid concentration 2021-05-09 11:33:30+00:00 Sex hormones are steroid hormones that include the androgens, estrogens, and progestogens. peter owl:Class HP:0004914 biolink:NamedThing Recurrent infantile hypoglycemia Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period. hp0009lx5z Recurrent low blood sugar in infant|Episodic infantile hypoglycemia HP:0004917 UMLS:C4021644 human_phenotype owl:Class HP:0200053 biolink:NamedThing Hemihypotrophy of lower limb Shortening of a leg affecting only one side. hp0009lx5z Asymmetric leg shortening|Asymmetric lower limb shortness sebastiankohler 2011-12-02T03:41:26Z HP:0005618 UMLS:C1844734 human_phenotype owl:Class HP:0100556 biolink:NamedThing Hemiatrophy Undergrowth of the limbs that affects only one side. hp0009lx5z Hemiatrophy of the body|Asymmetric limb shortening doelkens 2010-12-21T04:01:10Z HP:0200051|HP:0005091 UMLS:C0333662|SNOMEDCT_US:34087007 human_phenotype owl:Class HP:0001062 biolink:NamedThing Atypical nevus A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. hp0009lx5z Dysplastic Nevus|Atypical mole Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance. MSH:D004416|SNOMEDCT_US:61814002|SNOMEDCT_US:254818000|UMLS:C0205748 human_phenotype owl:Class HP:0001612 biolink:NamedThing Weak cry hp0009lx5z SNOMEDCT_US:2120003|UMLS:C0234860 human_phenotype owl:Class HP:0032191 biolink:NamedThing Torn meniscus A tear in the cartilaginous pad (meniscus) of the knee. hp0009lx5z 2019-01-15 11:31:04+00:00 Not all meniscal injuries require surgery. Some of them have the ability to heal. The meniscal tear pattern and the presence of adequate vascularity are both key points. Tears within 3 mm of the meniscosynovial junction usually have an adequate blood supply that allows healing. Tears of 5 mm or more from this junction are considered avascular and need surgical intervention. peter owl:Class HP:0032190 biolink:NamedThing Abnormal meniscus morphology Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement. hp0009lx5z 2019-01-15 11:29:05+00:00 The meniscus is a fibrocartilaginous structure of the knee joint that enables the even distribution of a weight-bearing load across the articular surfaces. The menisci bear between 40 to 70% of the load across the knee, and the rest of the load is transmitted directly to the articular cartilage. peter owl:Class HP:0005820 biolink:NamedThing Superior rib anomalies hp0009lx5z UMLS:C4025129 human_phenotype owl:Class HP:0010145 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the hallux hp0009lx5z doelkens 2009-05-29T01:22:47Z UMLS:C4024014 human_phenotype owl:Class HP:0550004 biolink:NamedThing Verruca plana Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. hp0009lx5z Flat wart 2017-08-03 19:50:21+00:00 ORCID:0000-0002-6387-4317 owl:Class HP:0004259 biolink:NamedThing Abnormality of the hamate bone hp0009lx5z UMLS:C4025386 human_phenotype owl:Class HP:0011460 biolink:NamedThing Embryonal onset Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). hp0009lx5z The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began. peter 2012-03-25T06:57:48Z UMLS:C4023348 owl:Class HP:0030674 biolink:NamedThing Antenatal onset Onset prior to birth. hp0009lx5z UMLS:C2673646 owl:Class HP:0100701 biolink:NamedThing Abnormal pia mater An abnormality of the pia mater. hp0009lx5z Abnormality of the pia mater doelkens 2011-03-31T12:44:41Z UMLS:C4021994 human_phenotype owl:Class HP:0001859 biolink:NamedThing Distal foot symphalangism hp0009lx5z HP:0100236 UMLS:C4025743 human_phenotype owl:Class HP:0030210 biolink:NamedThing Muscle specific kinase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab). hp0009lx5z Anti-MUSK antibodies UMLS:C4021044 owl:Class HP:0012650 biolink:NamedThing Perisylvian polymicrogyria Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. hp0009lx5z Frontoparietal polymicrogyria The Sylvian fissure (also known as the lateral sulcus) separates the frontal and parietal lobes superiorly from the temporal lobe inferiorly. peter 2014-02-06T07:47:51Z HP:0007095 UMLS:C3279675 owl:Class HP:0011090 biolink:NamedThing Fused teeth The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. hp0009lx5z Fused teeth|Fusion of teeth|Joined teeth peter 2011-03-11T02:17:04Z UMLS:C0016873|MSH:D005671|SNOMEDCT_US:1744008 owl:Class HP:0001746 biolink:NamedThing Asplenia Absence (aplasia) of the spleen. hp0009lx5z Absent spleen UMLS:C0600031|SNOMEDCT_US:702624008|Fyler:4771|SNOMEDCT_US:93030006|SNOMEDCT_US:707147002 human_phenotype owl:Class HP:0006485 biolink:NamedThing Agenesis of incisor Agenesis of incisor. hp0009lx5z Failure of development of incisor|Absence of incisors|Absence of front tooth|Missing front tooth|Missing incisors Failure of one or more incisors to develop. peter 2008-03-28T05:49:00Z UMLS:C4020815|UMLS:C4020816|UMLS:C4083290 human_phenotype owl:Class HP:0200120 biolink:NamedThing Chronic active hepatitis Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. hp0009lx5z Hepatitis, chronic active sebastiankohler 2013-06-11T11:17:25Z SNOMEDCT_US:197284004|MSH:D006521|UMLS:C0520463 human_phenotype owl:Class HP:0009242 biolink:NamedThing Osteolytic defects of the distal phalanx of the 5th finger Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger. hp0009lx5z doelkens 2009-01-05T07:25:50Z UMLS:C4024504 human_phenotype owl:Class HP:0005261 biolink:NamedThing Joint hemorrhage Hemorrhage occurring within a joint. hp0009lx5z Hemarthrosis|Hemarthroses|Joint haemorrhage|Bleeding within a joint|Spontaneous joint hemorrhage|Spontaneous joint haemorrhage peter 2008-03-26T04:27:00Z HP:0005196|HP:0001391 MSH:D006395|SNOMEDCT_US:81808003|UMLS:C0018924 human_phenotype owl:Class HP:0025181 biolink:NamedThing Abdominal aseptic abscess An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. hp0009lx5z 2016-12-04 20:11:28+00:00 HPO:probinson owl:Class HP:0004004 biolink:NamedThing Irregular radial epiphyses hp0009lx5z UMLS:C4025453 human_phenotype owl:Class HP:0010045 biolink:NamedThing Aplasia/Hypoplasia of the 5th metacarpal Aplasia or Hypoplasia affecting the 5th metacarpal. hp0009lx5z Absent/underdeveloped 5th long bone of hand|Absent/small 5th long bone of hand doelkens 2009-05-27T04:37:31Z UMLS:C4024085 human_phenotype owl:Class HP:0010682 biolink:NamedThing Elevated placental alkaline phosphatase An abnormally increased level of alkaline phosphatase, placental type in the blood. hp0009lx5z Elevated placental ALP Placental alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 250, Uniprot P05187 (PPB1_HUMAN). doelkens 2010-03-05T11:11:06Z UMLS:C4023743 owl:Class HP:0033343 biolink:NamedThing Mucoid diarrhea Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes. hp0009lx5z Mucous diarrhoea|Mucous diarrhea 2020-11-30 14:20:47+00:00 peter owl:Class HP:0009261 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger. hp0009lx5z Absent end part of the innermost bone of the ring finger doelkens 2009-01-07T12:12:59Z UMLS:C4024487 human_phenotype owl:Class HP:0009393 biolink:NamedThing Absent epiphyses of the 4th finger Absence of one or more epiphyses of the 4th finger. hp0009lx5z Absent end part of the ring finger bone doelkens 2009-01-13T01:59:12Z UMLS:C4024397 human_phenotype owl:Class HP:0009356 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 3rd finger A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. hp0009lx5z Delta-shaped epiphysis of the proximal phalanx of the 3rd finger|Triangular end part of innermost long bone of the middle finger doelkens 2009-01-12T11:19:03Z UMLS:C4021487 human_phenotype owl:Class HP:0008763 biolink:NamedThing No social interaction hp0009lx5z No social interaction UMLS:C1849683 human_phenotype owl:Class HP:0100165 biolink:NamedThing Small epiphysis of the proximal phalanx of the 3rd toe hp0009lx5z Small end part of the innermost bone of the 3rd toe doelkens 2010-06-24T10:24:45Z UMLS:C4022256 human_phenotype owl:Class HP:0000315 biolink:NamedThing Abnormality of the orbital region hp0009lx5z Anomaly of the orbital region of the face|Malformation of the orbital region of the face|Deformity of the orbital region of the face|Abnormality of the eye region|Abnormality of the region around the eyes HP:0000284 UMLS:C4025863 human_phenotype owl:Class HP:0005978 biolink:NamedThing Type II diabetes mellitus A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. hp0009lx5z Noninsulin dependent diabetes mellitus|NIDDM|Diabetes mellitus type 2|Diabetes mellitus, noninsulin-dependent|Non-insulin dependent diabetes|Type 2 diabetes|Type II diabetes|NIDDM diabetes mellitus|Noninsulin-dependent diabetes|Noninsulin-dependent diabetes mellitus|Diabetes mellitus Type II Persons with type II diabetes mellitus rarely develop ketoacidosis. HP:0005965|HP:0100652 SNOMEDCT_US:44054006|UMLS:C0011860|MSH:D003924 human_phenotype owl:Class HP:0410364 biolink:NamedThing Decreased monosialylated core 1 O-glycan level An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins. hp0009lx5z Decreased sialyl T-antigen concentration owl:Class HP:0002757 biolink:NamedThing Recurrent fractures The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). hp0009lx5z Frequent fractures|Varying degree of multiple fractures|Multiple fractures|Multiple spontaneous fractures|Increased fracture rate|Increased fractures|Recurrent fractures This term will be made obsolete. The annotations need to be checked. HP:0002809|HP:0002767|HP:0002660 MSH:D000069076|SNOMEDCT_US:5468008|SNOMEDCT_US:134291007|UMLS:C0016655|UMLS:C3805574|UMLS:C1833752|UMLS:C3806283 human_phenotype owl:Class HP:0007838 biolink:NamedThing Progressive ptosis A progressive form of ptosis. hp0009lx5z Progressive drooping of upper eyelid UMLS:C1834015 human_phenotype owl:Class HP:0010133 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the hallux hp0009lx5z Increased bone density of end part of the innermost bone of the big toe doelkens 2009-05-29T01:22:23Z UMLS:C4024026 human_phenotype owl:Class HP:0009344 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger. hp0009lx5z Speckled calcifications in end part of the outermost long bone of the middle finger doelkens 2009-01-12T11:18:33Z UMLS:C4024423 human_phenotype owl:Class HP:0011916 biolink:NamedThing Toe extensor amyotrophy Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. hp0009lx5z peter 2012-06-08T06:59:44Z UMLS:C4023127 human_phenotype owl:Class HP:0000660 biolink:NamedThing Lipemia retinalis A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. hp0009lx5z Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter). SNOMEDCT_US:95692001|UMLS:C0339477 human_phenotype owl:Class HP:0009667 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the thumb Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Enlarged end part of thumb innermost long bone doelkens 2009-01-30T09:17:13Z UMLS:C4024250 human_phenotype owl:Class HP:0012367 biolink:NamedThing Extra fontanelles Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull. hp0009lx5z Extra fontanelles include glabellar, metopic, sagittal (parietal) and cerebellar fontanelles. peter 2013-10-13T12:27:03Z UMLS:C4022927 human_phenotype owl:Class HP:0032235 biolink:NamedThing Anti-La/SS-B antibody positivity The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. hp0009lx5z 2019-01-26 17:16:04+00:00 Anti-Ro/SSA and anti-La/SSB are considered hallmarks of Sjogrens syndrome and are associated with systemic disease, but are also present in the sera of systemic lupus erythematodes patients. The most common antinuclear antibodies in Sjogren patients are those directed against the autoantigens Ro/SSA and La/SSB. The Ro/La particle is a protein-RNA complex formed by the association of the Ro60, and La/SSB proteins with small cytoplasmic RNA (hyRNA). Anti-Ro/SSA and anti-La/SSB antibodies are detected in 50 to 70 percent of primary Sjogren patients. Anti-Ro/SSA and anti-La/SSB antibodies are correlated with younger age at diagnosis, longer disease duration, more severe dysfunction of the exocrine glands, recurrent parotid gland enlargement and higher intensity of the lymphocytic infiltrates in the minor salivary glands. peter owl:Class HP:0000705 biolink:NamedThing Amelogenesis imperfecta A developmental dysplasia of the dental enamel. hp0009lx5z Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations. HP:0006310|HP:0006331|HP:0006325|HP:0006284|HP:0006327 UMLS:C0002452|SNOMEDCT_US:78494001|MSH:D000567 owl:Class HP:0012386 biolink:NamedThing Absent hallux Aplasia of the hallux, that is, a development defect such that the big toe does not develop. hp0009lx5z Aplasia of the hallux|Missing big toe|Agenesis of the halluces|Absent big toe hecht 2013-10-20T12:03:14Z UMLS:C1841686 human_phenotype owl:Class HP:0006623 biolink:NamedThing Costochondral joint sclerosis Abnormal increase in density of the tissue at the costochondral junctions. hp0009lx5z Sclerotic costochondral joints UMLS:C4021588 human_phenotype owl:Class HP:0030913 biolink:NamedThing Exaggerated rugosity of the labia majora Marked rugae formation of the skin of the labia majora. hp0009lx5z Scrotum-like labia majora Some rugae formation is typically found on the labia majora, but less than on the scrotum. owl:Class HP:0012652 biolink:NamedThing Exercise-induced asthma Asthma attacks following exercise. hp0009lx5z Exercise-induced asthma peter 2014-02-12T10:42:14Z MSH:D001250|SNOMEDCT_US:31387002|UMLS:C0004099 owl:Class HP:0008165 biolink:NamedThing Decreased helper T cell proportion Reduced proportion of helper T cells relative to the total number of T cells. hp0009lx5z Reduced helper T cell proportion|Decreased proportion circulating T-helper cells UMLS:C4024723 human_phenotype owl:Class HP:0500263 biolink:NamedThing Abnormal helper T cell proportion Abnormal proportion of helper T cells relative to the total number of T cells. hp0009lx5z Abnormal proportion of circulating T-helper cells 2020-05-15 19:15:28+00:00 owl:Class HP:0410311 biolink:NamedThing Hyposegmentation of neutrophil nuclei in CSF Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid. hp0009lx5z Hyposegmentation of neutrophil nuclei in cerebrospinal fluid owl:Class HP:0000951 biolink:NamedThing Abnormality of the skin An abnormality of the skin. hp0009lx5z dermatopathy|Abnormality of the skin|dermopathy|Skin abnormality HP:0005591|HP:0007415|HP:0001478|HP:0007580|HP:0001479|HP:0006736 UMLS:C0037268|SNOMEDCT_US:95320005|MSH:D012868|UMLS:C0037274|MSH:D012871|SNOMEDCT_US:199879009 human_phenotype owl:Class HP:0002850 biolink:NamedThing Decreased circulating total IgM An abnormally decreased level of immunoglobulin M (IgM) in blood. hp0009lx5z IgM deficiency|Decreased IgM level|Decreased IgM|Reduced IgM levels HP:0003147|HP:0005385 UMLS:C0239989 human_phenotype owl:Class HP:0004313 biolink:NamedThing Decreased circulating antibody level An abnormally decreased level of immunoglobulin in blood. hp0009lx5z Reduced immunoglobulin levels|Decreased serum immunoglobulin|Immunoglobulin deficiency|Decreased immunoglobulin level|Hypogammaglobulinemia|Decreased antibody level in blood In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. peter 2008-02-20T03:34:00Z HP:0010703 UMLS:C0086438|MSH:D000361|UMLS:C4048270|SNOMEDCT_US:119250001 human_phenotype owl:Class HP:0008607 biolink:NamedThing Progressive conductive hearing impairment A progressive type of conductive deafness. hp0009lx5z Progressive conductive deafness UMLS:C1861325 human_phenotype owl:Class HP:0032062 biolink:NamedThing Mallory-Weiss tear Vomiting-induced mucosal laceration at the esophago-gastric junction. hp0009lx5z 2018-09-16 12:01:42+00:00 peter owl:Class HP:0100882 biolink:NamedThing Fibrous hamartoma A rare, benign soft tissue tumor that typically occurs within the first two years of life. hp0009lx5z Fibrous hamartoma of infancy doelkens 2011-12-01T02:48:30Z SNOMEDCT_US:56364004|UMLS:C0265979|SNOMEDCT_US:22257004 human_phenotype owl:Class HP:0010566 biolink:NamedThing Hamartoma A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. hp0009lx5z sandra1 2009-10-16T02:51:16Z SNOMEDCT_US:400006008|UMLS:C0018552|SNOMEDCT_US:51398009|MSH:D006222 human_phenotype owl:Class HP:0000975 biolink:NamedThing Hyperhidrosis Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. hp0009lx5z Profuse sweating|Excessive sweating|Sweating|Diaphoresis|Sweating profusely|Increased sweating|Sweating, increased The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. HP:0001011|HP:0007424|HP:0001064 MSH:D013546|SNOMEDCT_US:312230002|UMLS:C0038990|MSH:D006945|SNOMEDCT_US:415690000|SNOMEDCT_US:415691001|SNOMEDCT_US:364538006|SNOMEDCT_US:161857006|SNOMEDCT_US:52613005|UMLS:C0700590|UMLS:C0020458|MEDDRA:10020642 owl:Class HP:0030706 biolink:NamedThing Ranula A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location. hp0009lx5z Sublingual ptyalocele|Sublingual cyst MSH:D011900|UMLS:C2242813|SNOMEDCT_US:14919007 owl:Class HP:0003252 biolink:NamedThing Anteriorly displaced genitalia hp0009lx5z UMLS:C1848653 human_phenotype owl:Class HP:3000047 biolink:NamedThing Abnormal glossopharyngeal nerve morphology Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX). hp0009lx5z Abnormality of glossopharyngeal nerve The glossopharyngeal nerve originates in the medulla oblongata. It Innervates the oropharynx, carotid body and sinus, as well as the posterior third of the tongue (where it mediates taste sensation), the middle ear cavity and the Eustachian tube. Additionally, it innervates the stylopharyngeus muscle of the pharynx. vasilevs 2015-08-07T01:08:41Z UMLS:C4073255 human_phenotype owl:Class HP:0000394 biolink:NamedThing Lop ear Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. hp0009lx5z The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal. UMLS:C0266614|SNOMEDCT_US:76223006 human_phenotype owl:Class HP:0011061 biolink:NamedThing Abnormality of dental structure An abnormality of the structure or composition of the teeth. hp0009lx5z Abnormality of tooth part|Abnormality of tooth structure peter 2011-03-10T01:44:04Z UMLS:C4023557 human_phenotype owl:Class HP:0005947 biolink:NamedThing Decreased sensitivity to hypoxemia Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. hp0009lx5z Decreased sensitivity to hypoxaemia|Decreased sensitivity to hypoxemia Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood). UMLS:C3806286 human_phenotype owl:Class HP:0005957 biolink:NamedThing Breathing dysregulation hp0009lx5z UMLS:C3808046 human_phenotype owl:Class HP:0008822 biolink:NamedThing Hypoplastic ischiopubic rami Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium. hp0009lx5z UMLS:C4024617 human_phenotype owl:Class HP:0010265 biolink:NamedThing Small epiphyses of the middle phalanges of the hand hp0009lx5z Small end part of the middle hand bones doelkens 2009-07-06T04:24:15Z UMLS:C4023936 human_phenotype owl:Class HP:0410022 biolink:NamedThing Vaginal fish odor A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). hp0009lx5z Vaginal fish odor|Vaginal fish odour owl:Class HP:0410020 biolink:NamedThing Fish odor Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. hp0009lx5z Fishy body odour|Fishy odour|Fish odour|Fishy odor|Fishy body odor owl:Class HP:0009159 biolink:NamedThing Small epiphysis of the proximal phalanx of the 5th finger Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. hp0009lx5z Small end part of the innermost bone of little finger|Small end part of the innermost bone of pinkie finger|Small end part of the innermost bone of pinky finger peter 2008-12-22T05:50:39Z UMLS:C4024565 human_phenotype owl:Class HP:0009390 biolink:NamedThing Small epiphyses of the 5th finger Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms. hp0009lx5z Small end part of little finger bone|Small end part of pinkie finger bone|Small end part of pinky finger bone doelkens 2009-01-13T01:19:03Z UMLS:C4024399 human_phenotype owl:Class HP:0030191 biolink:NamedThing Abnormal peripheral nervous system synaptic transmission An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. hp0009lx5z Abnormal PNS synaptic transmission UMLS:C4021046 owl:Class HP:0005994 biolink:NamedThing Nodular goiter Enlargement of the thyroid gland related to one or more nodules in the thyroid gland. hp0009lx5z Nodular goitre MSH:D006044|SNOMEDCT_US:419153005|UMLS:C0018023 human_phenotype owl:Class HP:0032730 biolink:NamedThing Focal impaired awareness myoclonic seizure A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0001312 biolink:NamedThing Giant somatosensory evoked potentials An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials. hp0009lx5z Giant SEPS UMLS:C3806961 human_phenotype owl:Class HP:0032609 biolink:NamedThing Endocrine-type tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. hp0009lx5z Renal tubular atrophy, endocrine-type|Endocrinization pattern of tubular atrophy peter owl:Class HP:0025641 biolink:NamedThing Elevated circulating glycolate concentration An abnormally increased concentration of glycolate in the blood circulation. hp0009lx5z 2019-04-26 18:31:31+00:00 Glycolate is a hydroxy monocarboxylic acid anion that is acetate in which the methyl group has been hydroxylated. HPO:probinson owl:Class HP:0025435 biolink:NamedThing Increased circulating lactate dehydrogenase concentration An elevated level of the enzyme lactate dehydrogenase in the blood circulation. hp0009lx5z Increased lactate dehydrogenase level 2017-04-23 17:11:02+00:00 Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. HPO:probinson owl:Class HP:0045040 biolink:NamedThing Abnormal lactate dehydrogenase level A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. hp0009lx5z UMLS:C4073168 owl:Class HP:0001712 biolink:NamedThing Left ventricular hypertrophy Enlargement or increased size of the heart left ventricle. hp0009lx5z Heart left ventricle hypertrophy|Left ventricular wall hypertrophy HP:0005171 SNOMEDCT_US:55827005|Fyler:3608|UMLS:C0149721|MSH:D017379 owl:Class HP:0005285 biolink:NamedThing Absent nasal bridge hp0009lx5z Absent nasal bridge|Missing nasal bridge|Absent bridge of nose|Agenesis of nasal bridge|Missing bridge of nose|Agenesis of bridge of nose UMLS:C1837888 human_phenotype owl:Class HP:0025575 biolink:NamedThing Abnormal superior vena cava morphology Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart. hp0009lx5z 2017-12-15 23:00:56+00:00 HPO:probinson Fyler:2820 owl:Class HP:0008705 biolink:NamedThing Ureteral triplication hp0009lx5z UMLS:C4024635 human_phenotype owl:Class HP:0030729 biolink:NamedThing Frontoethmoidal meningocele A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones. hp0009lx5z Frontoethmoid meningocele UMLS:C4280798 owl:Class HP:0002435 biolink:NamedThing Meningocele Protrusion of the meninges through a defect of the vertebral column. hp0009lx5z SNOMEDCT_US:171131006|UMLS:C0025299|MSH:D008588 human_phenotype owl:Class HP:0003349 biolink:NamedThing Low cholesterol esterification rate A reduction in the rate of cholesterol esterification. hp0009lx5z Cholesterol esterification convers free cholesterol to cholesteryl esters between the carboxylate group of a fatty acid and the hydroxyl group of cholesterol. Esterification allows more cholesterol to be packaged into the interior of lipoproteins. Cholesterol esterification rates can be measured in skin fibroblasts using for instance a non-lipoprotein [3H]cholesterol source. UMLS:C1843371 human_phenotype owl:Class HP:0007937 biolink:NamedThing Reticular pigmentary degeneration A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus. hp0009lx5z Honeycomb retinal degeneration|Fishnet retinal pigmentation UMLS:C4024769 human_phenotype owl:Class HP:0007769 biolink:NamedThing Peripheral retinal degeneration hp0009lx5z HP:0007805|HP:0007782 SNOMEDCT_US:61536007|UMLS:C1320640|SNOMEDCT_US:405721006 human_phenotype owl:Class HP:0008663 biolink:NamedThing Renal sarcoma A sarcoma of the kidney. hp0009lx5z UMLS:C0346251|NCIT:C3158|SNOMEDCT_US:254918001 human_phenotype owl:Class HP:0008358 biolink:NamedThing Hyperprolinemia An increased concentration of proline in the blood. hp0009lx5z Prolinemia UMLS:C0268528|SNOMEDCT_US:59655002 human_phenotype owl:Class HP:0002421 biolink:NamedThing Poor head control Difficulty to maintain correct position of the head while standing or sitting. hp0009lx5z Poor head control UMLS:C1836038 human_phenotype owl:Class HP:0100115 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 2nd toe hp0009lx5z Fragmentation of the end part of the middle bone of the 2nd toe doelkens 2010-06-24T10:05:37Z UMLS:C4022306 human_phenotype owl:Class HP:0410151 biolink:NamedThing Eosinophilic infiltration of the esophagus Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. hp0009lx5z Eosinophilic infiltration of the oesophagus|Eosinophilic esophagitis 2018-03-13 04:36:03+00:00 owl:Class HP:0005880 biolink:NamedThing Metacarpophalangeal synostosis Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. hp0009lx5z Fused long bone of hand with innermost finger bone HP:0100325 UMLS:C4025117 human_phenotype owl:Class HP:0040107 biolink:NamedThing Morphological abnormality of the posterior semicircular canal hp0009lx5z HPO:skoehler UMLS:C4022436 owl:Class HP:0033753 biolink:NamedThing Reduced residual volume Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation. hp0009lx5z 2021-04-21 16:11:22+00:00 peter owl:Class HP:0033752 biolink:NamedThing Abnormal residual volume Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs). hp0009lx5z 2021-04-21 16:09:44+00:00 peter owl:Class HP:0025231 biolink:NamedThing Abnormality of synovial bursa morphology A structural anomaly of a synovial bursa. hp0009lx5z 2016-12-14 11:29:35+00:00 A synovial bursa is a small fluid-filled saclike cavity that facilitates the gliding of muscles or tendons over bony or ligamentous surfaces. There are numerous synovial bursae in the body, for instance at the shoulder, elbow, knee, and hip. HPO:probinson owl:Class HP:0004784 biolink:NamedThing Juvenile gastrointestinal polyposis The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps. hp0009lx5z Juvenile GI polyposis UMLS:C4025294 human_phenotype owl:Class HP:0004390 biolink:NamedThing Hamartomatous polyposis Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. hp0009lx5z Hamartomatous polyps|Gastrointestinal hamartoma|Gastrointestinal hamartomatous polyps Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps. peter 2008-03-18T09:04:00Z UMLS:C3277418|SNOMEDCT_US:27391005|UMLS:C0334092 human_phenotype owl:Class HP:0001772 biolink:NamedThing Talipes equinovalgus A deformity of foot and ankle in which the foot is bent down and outwards. hp0009lx5z Equinovalgus deformity SNOMEDCT_US:68284008|MSH:D004863|UMLS:C4020866|UMLS:C0265642 human_phenotype owl:Class HP:0031244 biolink:NamedThing Swollen lip Enlargement of the lip typically due to fluid buildup or inflammation. hp0009lx5z Swelling of the lip 2017-08-12 13:02:05+00:00 peter owl:Class HP:0033452 biolink:NamedThing Decreased circulating prealbumin concentration A reduction from the normal concentration of prealbumin in the blood circulation. hp0009lx5z 2021-01-09 20:45:53+00:00 peter owl:Class HP:0033450 biolink:NamedThing Abnormal circulating prealbumin concentration Any deviation from normal concentration of albumin in the blood circulation. hp0009lx5z 2021-01-09 20:43:54+00:00 Prealbumin, a hepatic protein, is a marker for protein malnutrition. peter owl:Class HP:0001620 biolink:NamedThing High pitched voice An abnormal increase in the pitch (frequency) of the voice. hp0009lx5z High-pitched voice|High pitched voice HP:0008377|HP:0008374|HP:0001610|HP:0008379|HP:0008378|HP:0009146 SNOMEDCT_US:51406002|UMLS:C0241703 human_phenotype owl:Class HP:0100334 biolink:NamedThing Unilateral cleft palate hp0009lx5z One sided cleft palate|Unilateral palatoschisis doelkens 2010-10-13T04:16:12Z UMLS:C4022143 human_phenotype owl:Class HP:0033856 biolink:NamedThing Cholesterol emboli within interlobular vein lumen Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp0009lx5z 2021-06-02 19:03:13+00:00 peter owl:Class HP:0033855 biolink:NamedThing Abnormal interlobular vein lumen morphology Any structural anomaly located in the the inside space of the interlobular veins of the kidney. hp0009lx5z Abnormal morphology of the interlobular vein lumen 2021-06-02 19:00:07+00:00 peter owl:Class HP:0410000 biolink:NamedThing Abnormality of vomer An abnormality of the vomer. hp0009lx5z Abnormality of vomer bone|Defect of vomer UMLS:C4020914 owl:Class HP:0030256 biolink:NamedThing Small intestinal polyposis The presence of multiple polyps in the small intestine. hp0009lx5z UMLS:C4022555 owl:Class HP:0001014 biolink:NamedThing Angiokeratoma A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot. hp0009lx5z Angiokeratomas SNOMEDCT_US:26810009|MSH:D000794|UMLS:C0002985 human_phenotype owl:Class HP:0008194 biolink:NamedThing Multiple pancreatic beta-cell adenomas The presence of multiple pancreatic islet cell adenomas. hp0009lx5z UMLS:C4024718 human_phenotype owl:Class HP:0032951 biolink:NamedThing Renal tubular viral cytopathic changes Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. hp0009lx5z peter owl:Class HP:0001017 biolink:NamedThing Anemic pallor A type of pallor that is secondary to the presence of anemia. hp0009lx5z Anaemic pallor UMLS:C4025811 human_phenotype owl:Class HP:0005502 biolink:NamedThing Increased red cell osmotic fragility hp0009lx5z Increased red cell fragility|Increased erythrocyte osmotic fragility UMLS:C1849478 human_phenotype owl:Class HP:0040018 biolink:NamedThing Clinodactyly of hallux hp0009lx5z Curvature of big toe HPO:skoehler UMLS:C4280299|UMLS:C4022488 owl:Class HP:0032584 biolink:NamedThing Renal interstitial neutrophil infiltration Increased numbers of neutrophils in the interstitial tissues of the kidney. hp0009lx5z peter owl:Class HP:0002265 biolink:NamedThing Large fleshy ears hp0009lx5z Large fleshy ears UMLS:C3808403 human_phenotype owl:Class HP:0000400 biolink:NamedThing Macrotia Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). hp0009lx5z Large pinnae|Large ears This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. HP:0001755|HP:0000401|HP:0000382|HP:0000386 UMLS:C1848570|UMLS:C0152421|UMLS:C1855062|UMLS:C1835581|UMLS:C1850189|UMLS:C0554972|SNOMEDCT_US:275480001|UMLS:C1860838|SNOMEDCT_US:69056000 human_phenotype owl:Class HP:0010356 biolink:NamedThing Abnormality of the distal phalanx of the 2nd toe hp0009lx5z Abnormality of the outermost bone of the 2nd toe doelkens 2009-07-16T11:45:34Z UMLS:C4023885 human_phenotype owl:Class HP:0012507 biolink:NamedThing Weakness of orbicularis oculi muscle Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid. hp0009lx5z Weakness of orbicularis oculi muscles peter 2013-12-08T08:12:54Z UMLS:C1839030 human_phenotype owl:Class HP:0031031 biolink:NamedThing Abnormal retinol-binding protein level A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol. hp0009lx5z 2017-05-27 10:59:35+00:00 peter owl:Class HP:0030710 biolink:NamedThing Lipomeningocele A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life. hp0009lx5z SNOMEDCT_US:253120005|UMLS:C0431344 owl:Class HP:0000185 biolink:NamedThing Cleft soft palate Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. hp0009lx5z Cleft velum|Cleft muscular palate|Cleft of soft palate UMLS:C0432098|SNOMEDCT_US:253997002|MSH:C562950 human_phenotype owl:Class HP:0032445 biolink:NamedThing Pulmonary cyst A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid. hp0009lx5z Lung cyst 2019-03-03 17:31:21+00:00 The thin wall of cystic lesions differentiates them from cavitary processes, which have thicker and irregular walls and will not be discussed in this article. On chest radiographs, findings of a cyst are often subtle, consisting of lucencies and sometimes linear opacities. An air-fluid level can improve the visibility of a cyst and may suggest infection. For the investigation of cysts, CT is substantially more sensitive than chest radiography, showing a cyst as a ringlike lucency surrounded by a thin wall. peter owl:Class HP:0031345 biolink:NamedThing Colonic arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon. hp0009lx5z 2017-08-27 13:57:43+00:00 peter owl:Class HP:0007874 biolink:NamedThing Almond-shaped palpebral fissure A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. hp0009lx5z Almond shaped eyes|Almond-shaped opening between the eyelids The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow. UMLS:C4024780 human_phenotype owl:Class HP:0200005 biolink:NamedThing Abnormal shape of the palpebral fissure The presence of an abnormal shape of the palpebral fissure. hp0009lx5z Abnormal morphology of the palpebral fissure|Abnormal shape of the opening between the eyelids sebastiankohler 2010-06-09T07:56:37Z UMLS:C4021905 human_phenotype owl:Class HP:0031759 biolink:NamedThing Basic constant esotropia A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times). hp0009lx5z Basic (constant) esotropia 2018-01-21 14:43:58+00:00 peter owl:Class HP:0004415 biolink:NamedThing Pulmonary artery stenosis An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. hp0009lx5z Narrowing of lung artery Stenosis, or narrowing, of the branches of the pulmonary artery is a type of congenital heart disease that, if left untreated, may lead to significant complications. Ideally, interventions to treat stenosis occur before significant complications or long-term sequelae take place, often within the first 2 years of life. ORCID:0000-0002-0736-9199 2008-03-18T09:28:00Z SNOMEDCT_US:95441000|Fyler:1622|UMLS:C0238397|MSH:D000071079 human_phenotype owl:Class HP:0004876 biolink:NamedThing Spontaneous neonatal pneumothorax Pneumothorax occurring neonatally without traumatic injury to the chest or lung. hp0009lx5z Neonatal pneumothorax UMLS:C1857021 human_phenotype owl:Class HP:0033534 biolink:NamedThing Increased circulating brain natriuretic peptide concentration An increased concentration of brain natriuretic peptide in the blood circulation. hp0009lx5z Increased ventricular natriuretic peptide|Elevated circulating BNP concentration|Increased B-type natriuretic peptide 2021-01-15 12:59:46+00:00 BNP is a hormone secreted by ventricular cardiomyocytes in response to stretching caused by increased ventricular blood volume. BNP is synthesised as a prohormone (proBNP) comprising 108 amino acids. After the release into the circulation proBNP is cleaved in equimolar amounts into the biologically active BNP (32 amino acid), and the biologically inactive 76 amino acid N-terminal fragment (NT-proBNP). BNP has a number of physiological effects including natriuresis and diuresis, peripheral vasodilation, inhibition of renin angiotensin aldosterone system (RAAS) and the sympathetic nervous system (SNS). peter owl:Class HP:0033971 biolink:NamedThing Interlobular vein intima/media coagulative necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. hp0009lx5z 2021-06-24 12:56:00+00:00 peter owl:Class HP:0033969 biolink:NamedThing Interlobular vein intima/media necrosis Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. hp0009lx5z Necrosis within interlobular vein intima/media 2021-06-24 12:53:42+00:00 peter owl:Class HP:0003639 biolink:NamedThing Elevated urinary epinephrine An increased concentration of adrenaline in the urine. hp0009lx5z Increased urinary epinephrine UMLS:C1868393 human_phenotype owl:Class HP:0011976 biolink:NamedThing Elevated urinary catecholamines An increased concentration of catecholamine in the urine. hp0009lx5z Elevated urinary catecholamines peter 2012-07-18T09:07:22Z UMLS:C0241577 human_phenotype owl:Class HP:0006790 biolink:NamedThing Cerebral cortex with spongiform changes hp0009lx5z UMLS:C1857934 human_phenotype owl:Class HP:0031956 biolink:NamedThing Elevated circulating aspartate aminotransferase concentration An abnormally high concentration in the circulation of aspartate aminotransferase (AST). hp0009lx5z Elevated serum AST|Elevated serum aspartate aminotransferase|Elevated serum glutamic oxaloacetic transaminase|Aspartate aminotransferase increased 2018-07-07 13:54:55+00:00 peter owl:Class HP:0002910 biolink:NamedThing Elevated hepatic transaminase Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. hp0009lx5z Subclinical abnormal liver function tests|Abnormal liver function tests|Elevated serum transaminases|Abnormal liver function|Increased transaminases|Raised liver enzymes|Abnormal liver enzymes|Elevated transaminases|Increased liver function tests|High liver enzymes|Elevated liver function tests|Elevated liver enzymes|Increased liver enzymes HP:0003293|HP:0006567|HP:0003143|HP:0006578|HP:0003156|HP:0008342|HP:0001411|HP:0008267 UMLS:C0151766|UMLS:C0877359|MSH:D008107|UMLS:C0086565|SNOMEDCT_US:166603001|UMLS:C0438237|SNOMEDCT_US:166643006|UMLS:C0438717|SNOMEDCT_US:75183008|UMLS:C0235996|UMLS:C1842003|UMLS:C1848701 owl:Class HP:0031489 biolink:NamedThing Venous malformation of the lip A vascular malformation located in the lip that is related to abnormal vascular morphogenesis. hp0009lx5z 2017-09-18 00:26:17+00:00 peter owl:Class HP:0008760 biolink:NamedThing Violent behavior hp0009lx5z Violent behavior|Violent behaviour SNOMEDCT_US:248004009|UMLS:C0424323 human_phenotype owl:Class HP:0100145 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 3rd toe hp0009lx5z Triangular end part of the outermost bone of the 3rd toe doelkens 2010-06-24T10:23:44Z UMLS:C4022276 human_phenotype owl:Class HP:0030685 biolink:NamedThing Decreased adiponectin level A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. hp0009lx5z UMLS:C4073127 owl:Class HP:0009042 biolink:NamedThing Marked muscular hypertrophy Severe hypertrophy (increase in size) of muscle cells. hp0009lx5z UMLS:C1846013 human_phenotype owl:Class HP:0010777 biolink:NamedThing Bronchomegaly Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection. hp0009lx5z sdoelken 2010-04-29T10:25:22Z UMLS:C4023706 human_phenotype owl:Class HP:0000020 biolink:NamedThing Urinary incontinence Loss of the ability to control the urinary bladder leading to involuntary urination. hp0009lx5z Bladder incontinence|Loss of bladder control Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. HP:0008681|HP:0006942 UMLS:C0042024|SNOMEDCT_US:165232002|MSH:D014549 human_phenotype owl:Class HP:0030425 biolink:NamedThing Calcified ovarian cyst A cyst of the ovary that exhibits deposition of calcium salts. hp0009lx5z UMLS:C4072939 owl:Class HP:0012726 biolink:NamedThing Episodic hypokalemia An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. hp0009lx5z Recurrent low potassium peter 2014-03-23T02:08:24Z UMLS:C4022754 human_phenotype owl:Class HP:0002900 biolink:NamedThing Hypokalemia An abnormally decreased potassium concentration in the blood. hp0009lx5z Low blood potassium levels SNOMEDCT_US:166690008|SNOMEDCT_US:43339004|MSH:D007008|UMLS:C0020621 human_phenotype owl:Class HP:0030100 biolink:NamedThing Abnormal muscle fiber alpha sarcoglycan Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. hp0009lx5z Abnormal muscle fibre alpha sarcoglycan UMLS:C4022645 owl:Class HP:0008828 biolink:NamedThing Delayed proximal femoral epiphyseal ossification Developmental delay of ossification of the proximal epiphysis of the femur. hp0009lx5z Delayed ossification proximal femoral epiphyses|Delayed ossification of the proximal femoral epiphysis The proximal femoral epiphyseal ossification center normally appears at about age 6 months. UMLS:C1855222 human_phenotype owl:Class HP:0009655 biolink:NamedThing Patchy sclerosis of thumb phalanx An uneven increase in bone density of one or more of the phalanges of the thumb. hp0009lx5z Patchy sclerosis of the phalanges of the thumb|Uneven increase in bone density in thumb bone doelkens 2009-01-29T05:29:26Z UMLS:C4021413 human_phenotype owl:Class HP:0031696 biolink:NamedThing Disseminated viral infection A viral infection that fails to be contained by the immune sytem and spreads throughout the body. hp0009lx5z 2017-12-17 22:39:04+00:00 peter owl:Class HP:0033432 biolink:NamedThing Opportunistic viral infection hp0009lx5z 2021-01-09 17:57:27+00:00 An infection that is caused by a virus that would generally not be able to cause an infection in a host with a normal immune system. Such viruses take advantage of the opportunity, so to speak, that is provided by a weakened immune system. peter owl:Class HP:0010949 biolink:NamedThing Abnormality of umbilical vein blood flow A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein. hp0009lx5z Umbilical vein blood flow (UVBF) is closely related to the mass of placental cotyledons and is considered an expression of the amount of oxygen and nutrients transferred from the mother to the fetus. peter 2011-01-16T04:15:43Z UMLS:C4023631 human_phenotype owl:Class HP:0011403 biolink:NamedThing Abnormal umbilical cord blood vessels hp0009lx5z peter 2012-03-15T11:05:13Z UMLS:C4023372 human_phenotype owl:Class HP:0500200 biolink:NamedThing Increased CSF glutamate concentration Abnormally increased levels of glutamic acid in cerebrospinal fluid. hp0009lx5z High glutamic acid levels in cerebrospinal fluid 2019-02-25 16:57:13+00:00 owl:Class HP:0004373 biolink:NamedThing Focal dystonia A type of dystonia that is localized to a specific part of the body. hp0009lx5z peter 2008-03-18T07:33:00Z HP:0007140 MSH:D020821|UMLS:C0743332|SNOMEDCT_US:445006008 human_phenotype owl:Class HP:0030193 biolink:NamedThing Fatigable weakness of chewing muscles A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. hp0009lx5z UMLS:C4022590 owl:Class HP:0100013 biolink:NamedThing Neoplasm of the breast A tumor (abnormal growth of tissue) of the breast. hp0009lx5z Tumours of the breast|Breast tumor|Breast tumour|Neoplasia of the breast doelkens 2010-05-14T09:45:09Z HP:0010623 NCIT:C3262|MSH:D001943|UMLS:C1458155|SNOMEDCT_US:126926005 human_phenotype owl:Class HP:0007327 biolink:NamedThing Mixed demyelinating and axonal polyneuropathy hp0009lx5z UMLS:C4024907 human_phenotype owl:Class HP:0000749 biolink:NamedThing Paroxysmal bursts of laughter hp0009lx5z Paroxysmal laughter UMLS:C1839749 human_phenotype owl:Class HP:0000748 biolink:NamedThing Inappropriate laughter hp0009lx5z Inappropriate laughter UMLS:C0424304|SNOMEDCT_US:247985007 human_phenotype owl:Class HP:5000018 biolink:NamedThing Anti-ITPR1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1). hp0009lx5z Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0010148 biolink:NamedThing Triangular epiphysis of the distal phalanx of the hallux hp0009lx5z Triangular end part of the outermost bone of the big toe doelkens 2009-05-29T01:22:47Z UMLS:C4024011 human_phenotype owl:Class HP:0033708 biolink:NamedThing Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity hp0009lx5z Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies|Anti-HMGCR autoantibodies 2021-03-31 11:32:16+00:00 peter owl:Class HP:0005469 biolink:NamedThing Flat occiput Reduced convexity of the occiput (posterior part of skull). hp0009lx5z Flat back of the head|Flat back of skull|Flat back of the skull|Flat posterior head|Flat posterior cranium|Posterior flattening of the skull Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone. HP:0000249|HP:0000247 UMLS:C4280482|UMLS:C1837402 human_phenotype owl:Class HP:0009168 biolink:NamedThing Bullet-shaped middle phalanx of the 5th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected. hp0009lx5z Bullet-shaped middle little finger bone|Bullet-shaped middle pinkie finger bone|Bullet-shaped middle pinky finger bone peter 2008-12-29T02:44:53Z UMLS:C4024560 human_phenotype owl:Class HP:0004219 biolink:NamedThing Abnormality of the middle phalanx of the 5th finger hp0009lx5z Abnormality of the middle bone of pinky finger|Abnormality of the middle bone of pinkie finger|Abnormality of the middle bone of little finger UMLS:C4025406 human_phenotype owl:Class HP:0012155 biolink:NamedThing Decreased corneal sensation Reduced ability of the cornea to respond to stimulation. hp0009lx5z Corneal hypesthesia|Decreased corneal sensitivity|Reduced corneal sensation|Corneal hypaesthesia Corneal sensitivity to touch can be assessed by an aesthesiometer, which measures the corneal touch threshold. Decreased corneal sensation is associated with a decreased corneal reflex (HP:0008000); however, impairment of the corneal reflex can have other causes such as trigeminal nerve compression or a cerebellopontine angle lesion. Well known causes of decreased corneal sensation include Herpes simplex keratitis, neuroparalytic keratitis, leprosy, acoustic neuroma, and absolute glaucoma. hecht 2013-01-04T08:36:10Z UMLS:C0859996|SNOMEDCT_US:373433005|UMLS:C0271292 human_phenotype owl:Class HP:0025177 biolink:NamedThing Peribronchovascular interstitial thickening Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography. hp0009lx5z 2016-12-04 19:41:52+00:00 HPO:probinson owl:Class HP:0033332 biolink:NamedThing Elevated circulating amyloid A An increased concentration of serum amyloid A in the blood circulation. hp0009lx5z 2020-11-29 16:37:12+00:00 peter owl:Class HP:0031318 biolink:NamedThing Myofiber disarray A nonparallel arrangement of cardiac myocytes. hp0009lx5z Myocardial fibre disarray|Myocardial fiber disarray 2017-08-27 11:50:24+00:00 The presence of a sufficient quantity of myocardial fibers showing this change is considered to be a specific histological feature of hypertrophic cardiomyopathy. peter owl:Class HP:0004820 biolink:NamedThing Acute myelomonocytic leukemia An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. hp0009lx5z Acute myelomonocytic leukaemia SNOMEDCT_US:277601005|SNOMEDCT_US:30962008|UMLS:C0023479|MSH:D015479|SNOMEDCT_US:110005000 human_phenotype owl:Class HP:0001046 biolink:NamedThing Intermittent jaundice Jaundice that is sometimes present, sometimes not. hp0009lx5z Intermittent yellowing of skin|Intermittent icterus|Intermittent yellow skin UMLS:C4025805 human_phenotype owl:Class HP:0000952 biolink:NamedThing Jaundice Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. hp0009lx5z Yellowing of the skin|Yellow skin|Icterus|Jaundice UMLS:C0022346|MSH:D007565|SNOMEDCT_US:18165001 human_phenotype owl:Class HP:0007797 biolink:NamedThing Retinal vascular malformation hp0009lx5z UMLS:C1861791 human_phenotype owl:Class HP:0008451 biolink:NamedThing Posterior vertebral hypoplasia hp0009lx5z UMLS:C1856780 human_phenotype owl:Class HP:0410247 biolink:NamedThing Increased anti-animal dander IgE antibody level Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats. hp0009lx5z Increased level of anti-dander IgE antibody 2018-10-12 20:49:45+00:00 owl:Class HP:0032689 biolink:NamedThing Focal cognitive seizure with dissociation A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation. hp0009lx5z peter owl:Class HP:0008102 biolink:NamedThing Expanded metatarsals with widened medullary cavities hp0009lx5z UMLS:C1969289 human_phenotype owl:Class HP:0500221 biolink:NamedThing Decreased CSF tyrosine concentration Abnormally decreased levels of tyrosine in cerebrospinal fluid. hp0009lx5z Low tyrosine levels in the cerebrospinal fluid 2019-02-25 19:53:22+00:00 owl:Class HP:0025186 biolink:NamedThing Marcus Gunn jaw winking synkinesis Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. hp0009lx5z Pterygoid-levator synkinesis|Marcus Gunn jaw-winking syndrome|Trigemino-oculomotor synkinesis 2016-12-04 22:17:24+00:00 HPO:probinson owl:Class HP:0008462 biolink:NamedThing Cervical instability hp0009lx5z UMLS:C1863314 human_phenotype owl:Class HP:0005881 biolink:NamedThing Spinal instability hp0009lx5z UMLS:C0410648|SNOMEDCT_US:240220009 human_phenotype owl:Class HP:0009186 biolink:NamedThing Contracture of the metacarpophalangeal joint of the 5th finger Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue. hp0009lx5z peter 2008-12-29T04:18:00Z UMLS:C4024550 human_phenotype owl:Class HP:0009183 biolink:NamedThing Joint contracture of the 5th finger Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. hp0009lx5z 5th finger camptodactyly|Fifth finger camptodactyly peter 2008-12-29T04:11:30Z HP:0001184 UMLS:C1865702 human_phenotype owl:Class HP:0030507 biolink:NamedThing Retinal crystals Crystalline deposits in the retina. hp0009lx5z Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinaemia and Sjogren-Larsson syndrome. Refractile crystalline deposits may also be a manifestation of drug toxicity like the antineoplastic agent tamoxifen, the anesthetic methoxyflurane and the oral tanning agent canthaxanthine. Crystals may also occur in drug abusers who inject multiple crushed tablets of methadone or meperidine intravenously (talc retinopathy). UMLS:C4072992 owl:Class HP:0012685 biolink:NamedThing Decreased pineal volume An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland. hp0009lx5z peter 2014-03-22T01:10:12Z UMLS:C4022780 human_phenotype owl:Class HP:0000070 biolink:NamedThing Ureterocele A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. hp0009lx5z MSH:D014518|SNOMEDCT_US:12818004|UMLS:C0041960 owl:Class HP:0033375 biolink:NamedThing Anthracosis Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers. hp0009lx5z 2020-12-23 12:44:15+00:00 See Figure 15.11 in PMCID:PMC7262960. peter owl:Class HP:0010791 biolink:NamedThing Hyperplasia of the Leydig cells Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. hp0009lx5z sdoelken 2010-05-04T09:51:26Z SNOMEDCT_US:76085008|UMLS:C0023600 human_phenotype owl:Class HP:0032075 biolink:NamedThing Splenopancreatic fusion Fusion of the pancreatic tail and spleen. hp0009lx5z 2018-10-13 12:42:41+00:00 peter owl:Class HP:0500140 biolink:NamedThing Decreased circulating hydroxyproline concentration A decreased amount of hydroxyproline in the blood. hp0009lx5z Low level of hydroxyproline in the blood|Decreased hydroxyproline in the blood 2018-10-03 19:43:23+00:00 owl:Class HP:0100938 biolink:NamedThing Sclerosis of the middle phalanx of the 5th toe hp0009lx5z Increased bone density in the middle bone of the pinkie toe|Increased bone density in the middle bone of the little toe|Increased bone density in the middle bone of the pinky toe UMLS:C4021920 human_phenotype owl:Class HP:0100929 biolink:NamedThing Sclerosis of 5th toe phalanx An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in pinkie toe bone|Increased bone density in pinky toe bone|Increased bone density in little toe bone|Sclerosis of the phalanges of the 5th toe UMLS:C4020927 human_phenotype owl:Class HP:0010509 biolink:NamedThing Aplasia of the tarsal bones Absence of the tarsal bones. hp0009lx5z Absent ankle bone|Absent tarsals peter 2009-09-19T10:05:13Z UMLS:C4021257 human_phenotype owl:Class HP:0009922 biolink:NamedThing Vascular remnant arising from the disc Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. hp0009lx5z Persistence of the hyaloid artery|Persistent hyaloid artery peter 2009-05-02T06:43:07Z UMLS:C4024160 human_phenotype owl:Class HP:0002269 biolink:NamedThing Abnormality of neuronal migration An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. hp0009lx5z Migrational brain disorder|Heterotopias/abnormal migration|Abnormal neuronal migration|Neuronal migration disorder HP:0007317 MSH:D054081|UMLS:C1837249 owl:Class HP:0032778 biolink:NamedThing Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0040264 biolink:NamedThing Jaw pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. hp0009lx5z Jaw pain UMLS:C0236000|SNOMEDCT_US:274667000 owl:Class HP:0032463 biolink:NamedThing Reduced circulating fibronectin level A reduction below the normal concentration of fibronectin the the blood circulation. hp0009lx5z Decreased plasma fibronectin 2019-03-09 18:08:23+00:00 Fibronectin is a large vertebrate glycoprotein that is found in soluble and insoluble forms and involved in diverse processes. Protomeric fibronectin is a dimer of subunits, each of which comprises 29-31 modules - 12 type I, two type II and 15-17 type III. Plasma fibronectin is secreted by hepatocytes and circulates in a compact conformation before it binds to cell surfaces, converts to an extended conformation and is assembled into fibronectin fibrils. peter owl:Class HP:0009072 biolink:NamedThing Decreased Achilles reflex Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. hp0009lx5z Hyporeflexia at ankle joints UMLS:C1837323 owl:Class HP:0002600 biolink:NamedThing Hyporeflexia of lower limbs Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. hp0009lx5z Hyporeflexia, lower limbs|Hyporeflexia/areflexia in lower limbs|Hyporeflexia in lower limbs|Hyporeflexia of the lower limbs Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain. HP:0006861 UMLS:C1834696 human_phenotype owl:Class HP:0003306 biolink:NamedThing Spinal rigidity Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. hp0009lx5z Reduced spine movement|Rigid spine UMLS:C1858025 human_phenotype owl:Class HP:0010823 biolink:NamedThing Ridged cranial sutures An overlap of the bony plates of the skull in an infant, with or without early closure. hp0009lx5z Cranial suture ridges peter 2010-07-10T03:46:25Z UMLS:C4023692 human_phenotype owl:Class HP:0012790 biolink:NamedThing Abnormal intramembranous ossification An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed. hp0009lx5z Abnormal intramembranous bone ossification peter 2014-04-24T10:18:31Z UMLS:C4021069 human_phenotype owl:Class HP:0031687 biolink:NamedThing Abnormally loud pulmonic component of the second heart sound hp0009lx5z Accentuation of the pulmonic component of the second heart sound 2017-12-17 21:17:09+00:00 The pulmonic component is considered to be abnormally loud in a subject over age 20 if it is greater than the aortic component in the second left ICS or if it is audible at the cardiac apex. This may be due either to pulmonary artery hypertension or right ventricular dilatation, with part of the right ventricle assuming the position normally occupied by the left ventricle. A split second sound at the apex is, therefore, definitely abnormal. The loud P2 commonly heard at the apex in patients with atrial septal defect is probably due to a dilated right ventricle encroaching upon the cardiac apex [source-NCBI:NBK341]. peter owl:Class HP:0003876 biolink:NamedThing Osteoporotic humerus hp0009lx5z UMLS:C4025535 human_phenotype owl:Class HP:0025403 biolink:NamedThing Stooped posture A habitual positioning of the body with the head and upper back bent forward. hp0009lx5z 2017-04-22 14:18:27+00:00 HPO:probinson owl:Class HP:0011985 biolink:NamedThing Acholic stools Clay colored stools lacking bile pigment. hp0009lx5z Clay colored stools|Acholia|Discolored, acholic stools|Clay coloured stools peter 2012-07-19T10:31:22Z HP:0200112 UMLS:C2675627|SNOMEDCT_US:70396004 human_phenotype owl:Class HP:0001396 biolink:NamedThing Cholestasis Impairment of bile flow due to obstruction in bile ducts. hp0009lx5z Slowed or blocked flow of bile from liver MSH:D002779|UMLS:C0008370|SNOMEDCT_US:33688009|SNOMEDCT_US:30144000|SNOMEDCT_US:197446008 human_phenotype owl:Class HP:0009897 biolink:NamedThing Horizontal crus of helix An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly. hp0009lx5z Helix, crus, horizontal|Horizontal orientation of the ear crus|Horizontal orientation of the crus of helix The term 'railroad track sign' has been used to describe prominent horizontal crus of the helix in combination with prominent and parallel inferior crus of the antihelix. It is preferable to simply describe each component separately. peter 2009-04-30T10:34:52Z UMLS:C4021379 human_phenotype owl:Class HP:0032005 biolink:NamedThing Hemidystonia Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg. hp0009lx5z 2018-07-17 12:51:59+00:00 In most cases of hemidystonia, a contralateral structural lesion of the basal ganglia or thalamus can be demonstrated by neuroimaging. Common aetiologies include stroke and trauma, and younger patients seem to have a greater propensity to develop hemidystonia after cerebral insults. There is often a latency between cerebral injury and the onset of dystonia. Hemidystonia may be preceded by ipsilateral hemiparesis which often resolves as hemidystonia develops. peter owl:Class HP:0012319 biolink:NamedThing Absent pigmentation of the abdomen Lack of skin pigmentation (coloring) of the abdomen. hp0009lx5z peter 2013-08-10T08:21:54Z UMLS:C4022956 human_phenotype owl:Class HP:0040201 biolink:NamedThing Simultanapraxia A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue. hp0009lx5z PhenoTips:CHum UMLS:C4073149 owl:Class HP:0040200 biolink:NamedThing Motor impersistence The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts. hp0009lx5z Negative chorea Damage to premotor and prefrontal regions results in motor-intentional disorders that disrupt initiation, maintenance, and termination of volitional movements. Motor impersistence (i.e., failure to maintain movement) more frequently develops following right than left hemisphere lesions. PhenoTips:CHum UMLS:C4073148 owl:Class HP:0000683 biolink:NamedThing Grayish enamel A grey discoloration of the dental enamel. hp0009lx5z Greyish enamel|Grey coloured tooth enamel|Gray tooth shade|Grayish enamel|Grey tooth shade|Gray colored tooth enamel Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present. UMLS:C1854783 human_phenotype owl:Class HP:0012142 biolink:NamedThing Pancreatic squamous cell carcinoma A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. hp0009lx5z Squamous cell carcinoma of the pancreas peter 2012-09-16T08:55:24Z UMLS:C2675993 human_phenotype owl:Class HP:0032264 biolink:NamedThing Anti-NMDA receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. hp0009lx5z Presence of anti-N-methyl-D-aspartate Receptor antibody in blood|Presence of anti-NMDAR antibody in blood 2019-01-27 20:12:00+00:00 peter owl:Class HP:0031432 biolink:NamedThing Persistent repetition of actions Repeated and inappropriate mechanical repetition of actions. hp0009lx5z 2017-09-16 12:17:41+00:00 peter owl:Class HP:0030223 biolink:NamedThing Perseveration Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact. hp0009lx5z Perseverative behavior|Perseverative behaviour SNOMEDCT_US:44515000|UMLS:C0233651 owl:Class HP:0002679 biolink:NamedThing Abnormal sella turcica morphology Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. hp0009lx5z Abnormality of the hypophysial fossa|Anomaly of the sella turcica|Abnormality of the sella turcica|Abnormality of the pituitary fossa|Anomaly of the hypophysial fossa|Anomaly of the pituitary fossa UMLS:C4072839|UMLS:C4021754 owl:Class HP:0006865 biolink:NamedThing Sensorimotor polyneuropathy affecting arms more than legs hp0009lx5z UMLS:C4024974 owl:Class HP:0012236 biolink:NamedThing Elevated sweat chloride An increased concentration of chloride in the sweat. hp0009lx5z Elevated sweat Cl|Elevated sweat Cl-|Elevated sweat chloride Sweat chloride is notably increased in cystic fibrosis, but also in some other diseases. peter 2013-03-31T09:50:28Z UMLS:C1856646 human_phenotype owl:Class HP:0410218 biolink:NamedThing Hypoplasia of maxilla relative to mandible Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw). hp0009lx5z Disorder of maxillary and mandibular dental arch relationship 2018-09-25 00:46:15+00:00 owl:Class HP:0002586 biolink:NamedThing Peritonitis Inflammation of the peritoneum. hp0009lx5z Inflammation of the peritoneum HP:0100591 UMLS:C0031154|SNOMEDCT_US:48661000|MSH:D010538 human_phenotype owl:Class HP:0500211 biolink:NamedThing Abnormal CSF threonine concentration Any deviation from the normal concentration of threonine in the cerebrospinal fluid. hp0009lx5z Abnormal threonine levels in cerebrospinal fluid 2019-02-25 19:08:53+00:00 owl:Class HP:0002635 biolink:NamedThing Type IV atherosclerotic lesion In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. hp0009lx5z Atheromatosis MSH:D050197|UMLS:C0004153|SNOMEDCT_US:38716007 human_phenotype owl:Class HP:0010082 biolink:NamedThing Symphalangism affecting the distal phalanx of the hallux hp0009lx5z Fused outermost bone of big toe doelkens 2009-05-29T12:16:28Z UMLS:C4024063 human_phenotype owl:Class HP:0045055 biolink:NamedThing Tiger tail banding An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding. hp0009lx5z Tiger tail banding|Tiger-tail banding HPO:skoehler HP:0032461 UMLS:C4073178 owl:Class HP:0030925 biolink:NamedThing 5-minute APGAR score of 5 hp0009lx5z 2016-11-07 18:14:57+00:00 robinp owl:Class HP:0001963 biolink:NamedThing Abnormal speech discrimination A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. hp0009lx5z Poor speech discrimination|Abnormal speech discrimination UMLS:C1836752 human_phenotype owl:Class HP:0030649 biolink:NamedThing Pericentral hp0009lx5z UMLS:C4073112 owl:Class HP:0010854 biolink:NamedThing EEG with generalized low amplitude activity An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). hp0009lx5z EEG with generalised low amplitude activity|EEG: generalised low amplitude activity peter 2010-07-11T08:34:13Z UMLS:C4021214 human_phenotype owl:Class HP:0012040 biolink:NamedThing Corneal stromal edema Abnormal accumulation of fluid and swelling of the stroma of cornea. hp0009lx5z Corneal stromal oedema peter 2012-07-27T02:19:25Z SNOMEDCT_US:373430008|UMLS:C0474444 human_phenotype owl:Class HP:0033405 biolink:NamedThing Abnormal circulating organic amino compound concentration Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. hp0009lx5z 2021-01-09 15:46:18+00:00 peter owl:Class HP:0033655 biolink:NamedThing Pulmonary cavity A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick. hp0009lx5z Pulmonary cavern 2021-02-24 13:46:26+00:00 A pulmonary cavity can be caused by microorganisms (bacteria including mycobacteria, funghi, viruses, parasites), malignant processes or autoimmune disorders. peter owl:Class HP:0009292 biolink:NamedThing Broad distal phalanx of the 4th finger Increased width of the distal phalanx of the 4th finger. hp0009lx5z Wide outermost bone of ring finger|Broad outermost bone of ring finger doelkens 2009-01-08T04:41:33Z UMLS:C4024464 human_phenotype owl:Class HP:0007162 biolink:NamedThing Diffuse demyelination of the cerebral white matter A diffuse loss of myelin from nerve fibers in the central nervous system. hp0009lx5z UMLS:C4024930 human_phenotype owl:Class HP:0007305 biolink:NamedThing CNS demyelination A loss of myelin from nerve fibers in the central nervous system. hp0009lx5z Demyelination in central white matter CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes. HP:0007222 UMLS:C0338474 human_phenotype owl:Class HP:0010131 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the hallux hp0009lx5z Fragmentation of the end part of the innermost bone of the big toe doelkens 2009-05-29T01:22:23Z UMLS:C4024028 human_phenotype owl:Class HP:0002356 biolink:NamedThing Writer's cramp A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. hp0009lx5z Writer's cramp MSH:D020821|UMLS:C0154676|SNOMEDCT_US:52008007 human_phenotype owl:Class HP:0000025 biolink:NamedThing Functional abnormality of male internal genitalia hp0009lx5z UMLS:C4025898 human_phenotype owl:Class HP:0012874 biolink:NamedThing Abnormal male reproductive system physiology An abnormal functionality of the male genital system. hp0009lx5z Abnormal male genital system physiology hecht 2014-06-09T11:20:46Z UMLS:C4020716 human_phenotype owl:Class HP:0032129 biolink:NamedThing Decreased proportion of plasmablasts A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells. hp0009lx5z 2018-11-22 13:02:59+00:00 peter owl:Class HP:0025533 biolink:NamedThing Peau d'orange hp0009lx5z 2017-05-18 01:05:51+00:00 A swelling of the skin in which the skin is tethered by the sweat ducts it contains producing tiny dimples. THe overall appearance is said to resemble the skin (peal) of an orange. HPO:probinson owl:Class HP:0033350 biolink:NamedThing Elevated forced expiratory volume in one second An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject. hp0009lx5z Elevated FEV1 2020-11-30 22:24:30+00:00 peter owl:Class HP:0030749 biolink:NamedThing Grade II preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle. hp0009lx5z Grade II preterm intraventricular haemorrhage UMLS:C4280788 owl:Class HP:0030747 biolink:NamedThing Preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a premature infant. hp0009lx5z Preterm intraventricular haemorrhage This is a common complication seen in preterm infacnts since the cerebral blood vessels are not yet fully developed. Infants born more than 10 weeks early are at highest risk for this type of bleeding. UMLS:C4280789 owl:Class HP:0010830 biolink:NamedThing Impaired tactile sensation A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. hp0009lx5z Impaired touch sensation|Abnormal thigmesthesia|Loss of tactile sensation peter 2010-07-10T07:09:54Z UMLS:C4021221 owl:Class HP:0031669 biolink:NamedThing Middiastolic murmur A murmur that occurs in the middle of the diastolic phase. hp0009lx5z 2017-12-17 16:22:29+00:00 A middiastolic murmur may indicate mitral stenosis. peter owl:Class HP:0031668 biolink:NamedThing Diastolic heart murmur A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1. hp0009lx5z 2017-12-17 16:21:15+00:00 Diastolic murmurs always signify structural heart disease. peter owl:Class HP:0031809 biolink:NamedThing Archibald's sign Shortening of the fourth and fifth metacarpals when the fist is clenched. hp0009lx5z Knuckle dimple|Archibald's metacarpal sign 2018-04-28 14:18:49+00:00 In 1959, Archibald, Finlay, and De Vito were the first to describe a sign that depended on the relative lengths of the lateral three metacarpals (the metacarpal finding). When a line is drawn tangentially to the circumference of the heads (distal ends) of the fourth and fifth metacarpals, the extension of this line normally passes distally to the head of the third metacarpal and does not intersect the third metacarpal (negative metacarpal finding). In some hands such a line is tangential also to the circumference of the head of the third metacarpal (borderline metacarpal finding). In others the line runs through the distal end of the third metacarpal (positive metacarpal finding). peter owl:Class HP:0030740 biolink:NamedThing Anomalous muscle bundle of the right ventricle An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract. hp0009lx5z Right ventricular anomalous muscle bundle The anomalous muscle bundle is triangular in shape, with its apex attached to the anterior aspect of the ventricular septum immediately above and in front of the ventricular septal defect. It crosses the right ventricular chamber to insert at the apical portion of the anterior wall of the right ventricle (PMID:708529). UMLS:C4280792 owl:Class HP:0030548 biolink:NamedThing Unaided visual acuity 1.3 LogMAR hp0009lx5z UMLS:C4073022 owl:Class HP:0041210 biolink:NamedThing Fractured lateral malleolus of fibula A partial or complete breakage of the lateral malleolus of fibula. hp0009lx5z bone lateral malleolus of fibula owl:Class HP:0000222 biolink:NamedThing Gingival hyperkeratosis Hyperkeratosis of the gingiva. hp0009lx5z Hyperkeratosis, gingival The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. HP:0007539 UMLS:C1857013 human_phenotype owl:Class HP:0040280 biolink:NamedThing Obligate Always present, i.e. in 100% of the cases. hp0009lx5z Obligate (100%) ORCID:0000-0002-5316-1399 ORPHA:453310 owl:Class HP:0040279 biolink:NamedThing Frequency Class to represent frequency of phenotypic abnormalities within a patient cohort. hp0009lx5z Aligned with Orphanet ORCID:0000-0002-5316-1399 owl:Class HP:0012544 biolink:NamedThing Elevated aldolase level An increased concentration of fructose 1,6-bisphosphate aldolase in the serum. hp0009lx5z Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. peter 2013-12-21T09:18:43Z UMLS:C4022858 human_phenotype owl:Class HP:0005906 biolink:NamedThing Delayed pneumatization of the mastoid process An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. hp0009lx5z Mastoid processes poorly pneumatized UMLS:C4021617 human_phenotype owl:Class HP:0002283 biolink:NamedThing Global brain atrophy Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. hp0009lx5z Generalised brain degeneration|Generalized brain atrophy|Diffuse brain atrophy|Generalised brain atrophy|Generalized brain degeneration|Generalised cerebral atrophy|Generalized cerebral atrophy Global brain atrophy can be visualized and quantified by magnetic resonance imaging. HP:0002369|HP:0002462 UMLS:C0241816 human_phenotype owl:Class HP:0008211 biolink:NamedThing Parathyroid agenesis Aplasia of the parathyroid gland. hp0009lx5z Parathyroid aplasia|Parathyroid absence MSH:C563238|UMLS:C1321907|SNOMEDCT_US:73291005 human_phenotype owl:Class HP:0011768 biolink:NamedThing Parathyroid dysgenesis Abnormal embryonic development of the parathyroid gland. hp0009lx5z peter 2012-04-22T04:20:41Z UMLS:C4023197 human_phenotype owl:Class HP:0011993 biolink:NamedThing Impaired neutrophil bactericidal activity A reduction in the ability of neutrophils to kill bacteria. hp0009lx5z peter 2012-07-19T11:01:32Z UMLS:C4023090 human_phenotype owl:Class HP:0012138 biolink:NamedThing Granulocytic hyperplasia hp0009lx5z peter 2012-09-16T08:09:36Z UMLS:C4023028 human_phenotype owl:Class HP:0041092 biolink:NamedThing Emotional hypersensitivity Heightened emotional reactivity to environmental stimuli, including emotions of others. hp0009lx5z Overly sensitive|Highly sensitive|Hypersensitivity owl:Class HP:0031273 biolink:NamedThing Shock The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury. hp0009lx5z 2017-08-12 20:50:38+00:00 peter owl:Class HP:0030075 biolink:NamedThing Ductal carcinoma in situ Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. hp0009lx5z UMLS:C0007124|SNOMEDCT_US:109889007|MSH:D002285|SNOMEDCT_US:278053004|SNOMEDCT_US:373176000|SNOMEDCT_US:86616005 owl:Class HP:0001476 biolink:NamedThing Delayed closure of the anterior fontanelle A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. hp0009lx5z Later than typical closing of soft spot of skull|Delayed closure anterior fontanel|Persistent anterior fontanelle|Delayed closure of the soft spot on the skull|Delayed closure of the bregma sutures|Late closure of the bregma sutures|Late closure of soft spot on the skull|Late closure of anterior fontanelle|Late closure of large anterior fontanel|Delayed closure of anterior fontanelle UMLS:C4072831|UMLS:C3840083|SNOMEDCT_US:295091000119100 human_phenotype owl:Class HP:0000270 biolink:NamedThing Delayed cranial suture closure Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. hp0009lx5z Delayed closure of fontanelles|Delayed closure of fontanel|Delayed fontanel closure|Broad late closing cranial sutures|Late closure of fontanelle|Late closing fontanelles|Delayed cranial suture closure|Delayed fontanelle closure|Open sutures|Delayed closure of fontanels|Late-closing fontanelle|Delayed closure of the fontanelles HP:0003794|HP:0002704 SNOMEDCT_US:82779003|UMLS:C0277828 human_phenotype owl:Class HP:0020160 biolink:NamedThing GM1-ganglioside accumulation Cellular accumulation of GM1 gangliosides. hp0009lx5z At the neuropathological level, severe infantile GM1-gangliosidosis patients exhibit distended neurons that contain typical lamellar inclusions referred to as membranous cytoplasmic bodies which are also found in other lipidoses. Although neurons are the primary target for storage, astrocytes may also appear abnormally vacuolated. Neuronal pathology in late onset forms is delayed and tends to be more severe in deeper structures of the brain than in the cortex. Inclusions in the liver are of fibrillar nature and are different from the lamellar bodies in neurons. Abnormal accumulation of GM1-ganglioside and, to a much lesser extent, its asialo-derivative GA1, in the brain is the most prominent biochemical feature. robinp 2019-07-06 19:48:26+00:00 owl:Class HP:0004345 biolink:NamedThing Ganglioside accumulation Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease). hp0009lx5z A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain. peter 2008-03-11T07:50:00Z UMLS:C4025348 human_phenotype owl:Class HP:0030514 biolink:NamedThing Difficulty adjusting from dark to light hp0009lx5z UMLS:C4072996 owl:Class HP:0030512 biolink:NamedThing Difficulty adjusting to changes in luminance hp0009lx5z UMLS:C4072994 owl:Class HP:0030026 biolink:NamedThing Squared superior portion of helix Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. hp0009lx5z This is not to be confused with Lop ear or Satyr ear and may represent an underdevelopment of the upper third of the pinna. This is usually associated with a short ascending helix. UMLS:C4022671 owl:Class HP:0500167 biolink:NamedThing Hypergastrinemia An elevated amount of gastrin in the blood. hp0009lx5z Elevated gastrin in the blood|Increased blood gastrin 2018-11-05 18:51:20+00:00 owl:Class HP:0500166 biolink:NamedThing Abnormal circulating gastrin concentration An abnormal concentration of gastrin in the blood. hp0009lx5z Abnormal circulating gastrin level 2018-11-05 18:46:36+00:00 owl:Class HP:0010137 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the hallux hp0009lx5z Triangular end part of the innermost bone of the big toe doelkens 2009-05-29T01:22:23Z UMLS:C4024022 human_phenotype owl:Class HP:0010123 biolink:NamedThing Triangular epiphyses of the hallux hp0009lx5z Triangular end part of the big toe bone doelkens 2009-05-29T01:16:38Z UMLS:C4024036 human_phenotype owl:Class HP:0012320 biolink:NamedThing Absent pigmentation of the limbs Lack of skin pigmentation (coloring) of the arms and legs. hp0009lx5z peter 2013-08-10T08:22:30Z UMLS:C4022955 human_phenotype owl:Class HP:0500165 biolink:NamedThing Abnormal blood oxygen level An abnormality of the partial pressure of oxygen in the arterial blood. hp0009lx5z Abnromal O2 blood concentration|Abnormal blood oxygen levels|Abnormal blood O2 level 2018-10-17 15:14:35+00:00 owl:Class HP:0032918 biolink:NamedThing Focal impaired awareness orofacial automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset. hp0009lx5z peter owl:Class HP:0005956 biolink:NamedThing Anteroposteriorly shortened larynx Abnormal shortening of the larynx in the anteroposterior (front to back) axis. hp0009lx5z UMLS:C3805994 human_phenotype owl:Class HP:0033619 biolink:NamedThing Typical perifissural nodule A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical). hp0009lx5z 2021-01-30 22:37:54+00:00 peter owl:Class HP:0012733 biolink:NamedThing Macule A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. hp0009lx5z Flat, discolored area of skin|Flat, discoloured area of skin peter 2014-03-23T02:54:25Z UMLS:C0332573|SNOMEDCT_US:112629002 human_phenotype owl:Class HP:0010107 biolink:NamedThing Short proximal phalanx of hallux Underdevelopment (hypoplasia) of the proximal phalanx of big toe. hp0009lx5z Hypoplastic proximal phalanx of the hallux|Short innermost big toe bone|Short proximal phalanx of halluces|Short proximal phalanges of halluces|Small proximal phalanx of hallux|Small proximal phalanx of big toe doelkens 2009-05-29T12:43:40Z HP:0008129|HP:0008101 UMLS:C1862159 human_phenotype owl:Class HP:0031812 biolink:NamedThing Nitrituria Presence of nitrites in the urine. hp0009lx5z 2018-04-28 15:03:18+00:00 Nitrituria may be diagnosed on the basis of a positive test result on a urine dipstick test. Nitrites are not found in normal urine. Some gram-positive and gram-negative bacteria metabolize nitrates in urine to nitrites, and a positive urine dipstick test for nitrites most commonly suggests a bacterial urinary tract infection. peter owl:Class HP:0100801 biolink:NamedThing Pancreatic aplasia Aplasia of the pancreas. hp0009lx5z Absent pancreas doelkens 2011-06-09T11:46:59Z UMLS:C4021967 human_phenotype owl:Class HP:0012552 biolink:NamedThing Increased neutrophil nuclear projections Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs. hp0009lx5z peter 2014-01-01T03:41:24Z UMLS:C4022851 human_phenotype owl:Class HP:0033943 biolink:NamedThing Arcuate vein medial/intimal coagulative necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. hp0009lx5z Coagulative necrosis within arcuate vein intima/media 2021-06-24 01:52:16+00:00 peter owl:Class HP:0033942 biolink:NamedThing Arcuate vein medial/intimal necrosis Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. hp0009lx5z Necrosis within arcuate vein intima/media 2021-06-24 01:51:19+00:00 peter owl:Class HP:0000311 biolink:NamedThing Round face The facial appearance is more circular than usual as viewed from the front. hp0009lx5z Round face|Round facial shape|Round, full face|Round facies|Round facial appearance|Circular face HP:0004653|HP:0000304 UMLS:C1856468|UMLS:C0239479 human_phenotype owl:Class HP:0033163 biolink:NamedThing Small intestinal bacterial overgrowth An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml. hp0009lx5z 2020-09-24 09:20:07+00:00 peter owl:Class HP:3000009 biolink:NamedThing Abnormality of nasalis muscle An abnormality of a nasalis muscle. hp0009lx5z vasilevs 2015-02-26T03:55:52Z UMLS:C4073218 human_phenotype owl:Class HP:0002300 biolink:NamedThing Mutism hp0009lx5z Muteness|Inability to speak UMLS:C0026884|MSH:D009155|SNOMEDCT_US:88052002 owl:Class HP:0041043 biolink:NamedThing Neutrophil nuclear clefts An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation. hp0009lx5z owl:Class HP:0041190 biolink:NamedThing Fractured epiphysis of second metacarpal bone A partial or complete breakage of the epiphysis of second metacarpal bone. hp0009lx5z bone epiphysis of second metacarpal bone owl:Class HP:0004338 biolink:NamedThing Abnormal circulating aromatic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. hp0009lx5z Abnormality of aromatic amino acid family metabolism peter 2008-03-08T07:55:00Z UMLS:C4025352 human_phenotype owl:Class HP:0041183 biolink:NamedThing Fractured middle phalanx of manual digit 3 A partial or complete breakage of the middle phalanx of manual digit 3. hp0009lx5z bone middle phalanx of manual digit 3 owl:Class HP:0004476 biolink:NamedThing Aplasia cutis congenita over parietal area A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area. hp0009lx5z Absent cutis congenita over parietal area UMLS:C1863492 human_phenotype owl:Class HP:0030271 biolink:NamedThing Reduced erythrocyte 2,3-diphosphoglycerate concentration This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. hp0009lx5z UMLS:C4022546 owl:Class HP:0001513 biolink:NamedThing Obesity Accumulation of substantial excess body fat. hp0009lx5z Having too much body fat|Obesity SNOMEDCT_US:414915002|UMLS:C0028754|SNOMEDCT_US:414916001|MSH:D009765 human_phenotype owl:Class HP:0004324 biolink:NamedThing Increased body weight Abnormally increased body weight. hp0009lx5z Increased body weight|Weight gain peter 2008-02-27T03:21:00Z HP:0045083 UMLS:C0043094|SNOMEDCT_US:8943002|SNOMEDCT_US:161831008|MSH:D015430|SNOMEDCT_US:262286000 human_phenotype owl:Class HP:0100447 biolink:NamedThing Curved proximal phalanx of the 4th toe A deviation from the normal straight form of the proximal phalanx of the fourth toe. hp0009lx5z Curved innermost bone of the 4th toe UMLS:C4022080 human_phenotype owl:Class HP:0040090 biolink:NamedThing Abnormality of the tympanic membrane An abnormality of the tympanic membrane hp0009lx5z Abnormality of the eardrum The tympanic membrane is considered to be the border of middle and outer ear. HPO:skoehler UMLS:C4022447 owl:Class HP:4000020 biolink:NamedThing Anti-BP180 antibody positivity Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen. hp0009lx5z 2021-05-02 14:29:45+00:00 The presence of autoantibodies (immunoglobulins) in the serum that react against BP180. robinp owl:Class HP:0100524 biolink:NamedThing Limb duplication Congenital duplication of all or part of a limb. hp0009lx5z Dimelia|Limb duplication doelkens 2010-12-20T11:32:41Z UMLS:C0265551|SNOMEDCT_US:34488005 human_phenotype owl:Class HP:0100448 biolink:NamedThing Curved proximal phalanx of the 5th toe A deviation from the normal straight form of the proximal phalanx of the fifth toe. hp0009lx5z Curved innermost little toe bone|Curved innermost pinky toe bone|Curved innermost pinkie toe bone UMLS:C4022079 human_phenotype owl:Class HP:0040051 biolink:NamedThing Abnormality of upper eyelashes hp0009lx5z Abnormality of upper eyelashes HPO:skoehler UMLS:C4022467 owl:Class HP:0041219 biolink:NamedThing Fractured elbow A partial or complete breakage of the elbow. hp0009lx5z bone elbow owl:Class HP:0041118 biolink:NamedThing Fractured upper limb segment A partial or complete breakage of the upper limb segment. hp0009lx5z bone upper limb segment owl:Class HP:0100481 biolink:NamedThing Proximal/middle symphalangism of 4th toe Bony fusion of the middle and proximal phalanges of the 4th toe. hp0009lx5z Fused innermost and middle bones of 4th toe|Symphalangism of the middle and proximal phalanges of the 4th toe UMLS:C4020974 human_phenotype owl:Class HP:0100474 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 4th toe hp0009lx5z Fused innermost bones of 4th toe UMLS:C4022053 human_phenotype owl:Class HP:0011205 biolink:NamedThing EEG with intermittent slow activity Non-continuous diffuse slowing of electroencephalographic patterns. hp0009lx5z hecht 2011-11-19T11:30:20Z UMLS:C4023469 human_phenotype owl:Class HP:0012631 biolink:NamedThing Pigment deposition in the trabecular meshwork Accumulation of abnormal amounts of pigment within the trabecular meshwork. hp0009lx5z Gonioscopy can be used to reveal pigment deposition on the trabecular meshwork. peter 2014-01-17T11:15:03Z UMLS:C3805899 human_phenotype owl:Class HP:0012630 biolink:NamedThing Abnormal trabecular meshwork morphology An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm. hp0009lx5z Abnormality of the trabecular meshwork peter 2014-01-17T11:12:27Z UMLS:C4022814 human_phenotype owl:Class HP:0033394 biolink:NamedThing Anti-carbonic anhydrase II antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II. hp0009lx5z 2021-01-06 12:53:59+00:00 peter owl:Class HP:0012802 biolink:NamedThing Broad jaw Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). hp0009lx5z Broad mandible|Broad jaw|Wide jaw|Broad lower face|Wide mandible The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. When a broad jaw is accompanied by a broad upper face the term Square face is used. hecht 2014-05-25T02:41:43Z UMLS:C3281059 human_phenotype owl:Class HP:0000218 biolink:NamedThing High palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). hp0009lx5z Ogival palate|High-arched palate|Palate, high-arched|High palate|High arched palate|High, arched palate|Elevated palate|Palate high-arched|Increased palatal height The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately. HP:0009082|HP:0009080|HP:0000156|HP:0009097 UMLS:C0240635|SNOMEDCT_US:27272007 owl:Class HP:0010084 biolink:NamedThing Duplication of the distal phalanx of the hallux hp0009lx5z Partial/complete duplication of the distal phalanx of the hallux|Duplication of the outermost bone of big toe doelkens 2009-05-29T12:16:28Z UMLS:C4021339 human_phenotype owl:Class HP:0012241 biolink:NamedThing Levator palpebrae superioris atrophy Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. hp0009lx5z peter 2013-04-02T06:53:20Z UMLS:C1851107 human_phenotype owl:Class HP:0006042 biolink:NamedThing Y-shaped metacarpals Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. hp0009lx5z Y-shaped long bone of hand UMLS:C1861373 human_phenotype owl:Class HP:0033527 biolink:NamedThing Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin). hp0009lx5z Decreased plasma testosterone-to-androstenedione ratio 2021-01-15 12:34:18+00:00 Androstenedione is made in the adrenal glands as well as the testes and ovaries. In females, androstenedione is converted to provide around half of all testosterone and almost all estrone. In males, androstenedione is produced by the testes and rapidly converted to testosterone. A low testosterone:androstenedione ratio following hCG stimulation may be a useful method of diagnosing 17beta-hydroxysteroid dehydrogenase-3 (17 betaHSD3) deficiency. peter owl:Class HP:0012273 biolink:NamedThing Increased carotid artery intimal medial thickness An increase in the combined thickness of the intima and media of the carotid artery. hp0009lx5z This feature can be measured by ultrasonography and is thought to be a risk foctor for myocardial infarction and stroke. peter 2013-04-07T02:16:23Z UMLS:C4022977 human_phenotype owl:Class HP:0031458 biolink:NamedThing Adenoiditis An inflammation of the adenoid tissue. hp0009lx5z 2017-09-17 16:02:03+00:00 Adenoiditis is usually caused by an infection. peter owl:Class HP:3000033 biolink:NamedThing Abnormal nasopharyngeal adenoid morphology Any abnormality of nasopharyngeal adenoids. hp0009lx5z Abnormality of adenoids|Abnormality of nasopharyngeal tonsil|Abnormality of nasopharyngeal adenoids|Abnormality of pharyngeal tonsil The adenoid, a mass of lymphatic tissue situated posterior to the nasal cavity, in the roof of the nasopharynx, where the nose blends into the throat. vasilevs 2015-08-07T00:27:21Z UMLS:C4073241 human_phenotype owl:Class HP:0009451 biolink:NamedThing Bullet-shaped proximal phalanx of the 3rd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected. hp0009lx5z Bullet-shaped innermost bone of the middle finger doelkens 2009-01-14T04:33:41Z UMLS:C4024354 human_phenotype owl:Class HP:0100104 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 2nd toe hp0009lx5z Fragmentation of the end part of the outermost bone of the 2nd toe doelkens 2010-06-24T10:04:20Z UMLS:C4022317 human_phenotype owl:Class HP:0008519 biolink:NamedThing Abnormal coccyx morphology Any structural abnormality of the coccyx. hp0009lx5z Abnormality of the coccyx|Abnormal tailbone peter 2008-04-04T02:41:00Z HP:0002830 UMLS:C4024658 owl:Class HP:0006850 biolink:NamedThing Hypoplasia of the ventral pons Underdevelopment of the ventral portion of the pons. hp0009lx5z Underdeveloped ventral pons UMLS:C1843507 human_phenotype owl:Class HP:0007181 biolink:NamedThing Interosseus muscle atrophy Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones. hp0009lx5z Interosseous muscular atrophy This term needs disambiguation. Palmar, plantar, or dorsal interosseus muscles. UMLS:C1846829 human_phenotype owl:Class HP:0010411 biolink:NamedThing Triangular shaped middle phalanx of the 2nd toe hp0009lx5z Triangular shaped middle bone of 2nd toe doelkens 2009-07-16T12:43:52Z UMLS:C4023844 human_phenotype owl:Class HP:0033542 biolink:NamedThing Bronchial wall thickening Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density. hp0009lx5z Peribronchial thickening|Peribronchial cuffing 2021-01-21 12:32:16+00:00 peter owl:Class HP:0004226 biolink:NamedThing Curved distal phalanx of the 5th finger Curved appearance of the distal phalanx of the 5th (little) finger. hp0009lx5z Curved outermost pinkie finger bone|Curved terminal phalanx of the little finger|Curved outermost little finger bone|Curved outermost pinky finger bone UMLS:C4021672 human_phenotype owl:Class HP:0031993 biolink:NamedThing Hoffmann sign A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. hp0009lx5z 2018-07-15 18:58:09+00:00 The Hoffmann sign is regarded to be test for disease of the corticospinal pathways. peter owl:Class HP:0009707 biolink:NamedThing Synostosis involving the 4th metacarpal hp0009lx5z Fusion involving the 4th long bone of hand doelkens 2009-01-30T04:32:03Z UMLS:C4024226 human_phenotype owl:Class HP:0012151 biolink:NamedThing Hemothorax The presence of blood in the pleural space. hp0009lx5z Hemothorax may result from hemorrhage in the chest wall, lung parenchyma, heart, or great vessels. peter 2012-09-16T08:58:32Z MSH:D006491|SNOMEDCT_US:31892009|UMLS:C0019123 human_phenotype owl:Class HP:0010484 biolink:NamedThing Hypertrophy of the upper limb Abnormal increase in size of the upper limbs (due to an increase of the size of cells). hp0009lx5z Increased size of upper limb peter 2009-09-16T09:23:57Z UMLS:C0575518|SNOMEDCT_US:298745009 human_phenotype owl:Class HP:0012416 biolink:NamedThing Hypercapnia Abnormally elevated blood carbon dioxide (CO2) level. hp0009lx5z High blood carbon dioxide level|Hypercarbia peter 2013-11-10T05:04:49Z MSH:D006935|UMLS:C0020440|SNOMEDCT_US:29596007 human_phenotype owl:Class HP:3000021 biolink:NamedThing Abnormality of buccal fat pad An abnormality of a buccal fat pad. hp0009lx5z vasilevs 2015-08-07T00:15:49Z UMLS:C4073230 human_phenotype owl:Class HP:0033230 biolink:NamedThing Biceps areflexia Inability to elicit biceps tendon reflex. hp0009lx5z Areflexia of biceps 2020-10-30 11:18:00+00:00 peter owl:Class HP:0031324 biolink:NamedThing Myocardial multinucleated giant cells The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin. hp0009lx5z 2017-08-27 12:15:15+00:00 peter owl:Class HP:0025501 biolink:NamedThing Class III obesity Obesity with a body mass index of 40 kg per square meter or higher. hp0009lx5z Obesity grade 3 2017-05-14 20:09:17+00:00 HPO:probinson owl:Class HP:0011300 biolink:NamedThing Broad fingertip Increased width of the distal segment of a finger. hp0009lx5z Broad fingertip|Broad fingertips This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad. The distinction to the term Broad distal phalanx of finger is that this term is a clinical impression while Broad distal phalanx of finger refers to the objectively measured width of the distal phalane (bone), a radiological finding. hecht 2012-02-11T11:18:08Z UMLS:C1968816 owl:Class HP:0033281 biolink:NamedThing Circulating nucleated red blood cells The presence of nucleated red blood cells in the peripheral blood circulation. hp0009lx5z 2020-11-28 19:50:48+00:00 Nucleated red blood cells (NRBCs) are early erythrocyte precursors not present in the peripheral blood of normal adults. Fenestrations in the bone marrow provide a physical filter to the release of the large NRBCs into the circulation, and the rare NRBC that escapes is rapidly cleared from peripheral blood by the spleen. The presence of circulating NRBCs in adults thus reflects extreme increases in erythropoietic activity or failure of the blood filtration mechanisms. peter owl:Class HP:0032924 biolink:NamedThing Focal impaired awareness verbal automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset. hp0009lx5z peter owl:Class HP:0032553 biolink:NamedThing Weak pulse A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse. hp0009lx5z 2019-06-14 10:47:25+00:00 peter owl:Class HP:0032552 biolink:NamedThing Abnormal pulse An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart. hp0009lx5z 2019-06-14 10:43:44+00:00 peter owl:Class HP:0030464 biolink:NamedThing Asymmetrical distribution of pattern reversal visual evoked potentials hp0009lx5z Crossed asymmetry of pattern reversal visual evoked potentials UMLS:C4072954 owl:Class HP:0007879 biolink:NamedThing Allergic conjunctivitis Allergic Conjunctivitis is an allergic inflammation of the conjunctiva. hp0009lx5z SNOMEDCT_US:473460002|UMLS:C0009766|SNOMEDCT_US:231854006|MSH:D003233 human_phenotype owl:Class HP:0009259 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger. hp0009lx5z Speckled calcifications in the end part of the outermost bone of the ring finger doelkens 2009-01-07T12:07:34Z UMLS:C4024488 human_phenotype owl:Class HP:0032146 biolink:NamedThing HbC hemoglobin Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis. hp0009lx5z Haemoglobin C|Hemoglobin C|HbC haemoglobin 2018-11-22 16:41:53+00:00 peter owl:Class HP:0009287 biolink:NamedThing Curved middle phalanx of the 4th finger Curved appearance of the middle phalanx of the 4th (ring) finger. hp0009lx5z Curved middle ring finger bone doelkens 2009-01-08T03:46:28Z UMLS:C4024468 human_phenotype owl:Class HP:0500162 biolink:NamedThing Decreased level of carnosine in blood A decreased amount of carnosine in bood. hp0009lx5z Decreased blood carnosine concentration|Low blood carnosine levels 2018-10-05 16:11:06+00:00 owl:Class HP:0008079 biolink:NamedThing Absent fifth metatarsal A developmental abnormality characterized by the absence of the fifth metatarsal bone. hp0009lx5z Absent 5th long bone of foot|Aplasia of the fifth metatarsal bone|Absent 5th metatarsals HP:0010670 UMLS:C1867932 human_phenotype owl:Class HP:0040195 biolink:NamedThing Decreased head circumference An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. hp0009lx5z Decreased head circumference Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly. UMLS:C0424688|SNOMEDCT_US:271611007 owl:Class HP:0009453 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger. hp0009lx5z doelkens 2009-01-14T04:33:41Z UMLS:C4024352 human_phenotype owl:Class HP:0009443 biolink:NamedThing Osteolytic defects of the phalanges of the 3rd finger Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger. hp0009lx5z Lytic defects of middle finger phalanges doelkens 2009-01-14T04:09:01Z HP:0004159 UMLS:C4021472 human_phenotype owl:Class HP:0200029 biolink:NamedThing Vasculitis in the skin hp0009lx5z Cutaneous vasculitis sebastiankohler 2010-06-17T02:55:19Z UMLS:C0262988|SNOMEDCT_US:53312001 human_phenotype owl:Class HP:0008470 biolink:NamedThing Lower thoracic interpediculate narrowness A reduction of the distance between the lower thoracic vertebral pedicles. hp0009lx5z Narrowness of interpediculate distances in lower thoracic regions UMLS:C1854940 human_phenotype owl:Class HP:0011912 biolink:NamedThing Abnormality of the glenoid fossa An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. hp0009lx5z peter 2012-06-05T08:51:23Z UMLS:C4023131 human_phenotype owl:Class HP:0005684 biolink:NamedThing Distal arthrogryposis An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. hp0009lx5z UMLS:C0265213|SNOMEDCT_US:24269006 human_phenotype owl:Class HP:0030053 biolink:NamedThing Stiff skin An induration (hardening) of the skin hp0009lx5z Indurated skin|Stiff skin UMLS:C3276815 owl:Class HP:0010929 biolink:NamedThing Abnormal blood cation concentration An abnormality of cation homeostasis. hp0009lx5z Abnormality of cation homeostasis peter 2011-01-06T10:36:04Z UMLS:C4023646 human_phenotype owl:Class HP:0009797 biolink:NamedThing Cholesteatoma Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. hp0009lx5z peter 2009-02-11T05:20:04Z SNOMEDCT_US:575006|UMLS:C0008373|MSH:D002781|SNOMEDCT_US:363668000 human_phenotype owl:Class HP:0100799 biolink:NamedThing Neoplasm of the middle ear A tumor (abnormal growth of tissue) of the middle ear. hp0009lx5z Neoplasia of the middle ear|Middle ear tumour|Middle ear tumor doelkens 2011-06-08T04:25:43Z UMLS:C0345617|NCIT:C3262|SNOMEDCT_US:127006003 human_phenotype owl:Class HP:0025237 biolink:NamedThing Confusional arousal A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours. hp0009lx5z 2016-12-14 12:07:36+00:00 HPO:probinson owl:Class HP:0100116 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 2nd toe hp0009lx5z Irregular end part of the middle bone of the 2nd toe doelkens 2010-06-24T10:05:37Z UMLS:C4022305 human_phenotype owl:Class HP:0031776 biolink:NamedThing Cyclotropia A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia). hp0009lx5z 2018-01-27 11:38:31+00:00 peter owl:Class HP:0007728 biolink:NamedThing Congenital miosis Abnormal (non-physiological) constriction of the pupil of congenital onset. hp0009lx5z SNOMEDCT_US:400962005|MSH:C537550|UMLS:C1303009 human_phenotype owl:Class HP:0033011 biolink:NamedThing Platystencephaly Extreme width of the skull in the occipital region, with anterior narrowing and prognathism. hp0009lx5z peter owl:Class HP:0500136 biolink:NamedThing Hypothreoninemia A decreased amount of threonine in the blood. hp0009lx5z Low blood threonine concentration|Decreased threonine blood levels|Decreased circulating threonine levels 2018-10-01 16:07:19+00:00 owl:Class HP:0033699 biolink:NamedThing Polymorphic vesicular eruption A type of vesicular eruption in which the vesicles are at different stages. hp0009lx5z 2021-03-07 23:09:26+00:00 This feature can be seen in many diseases including chickenpox. peter owl:Class HP:3000076 biolink:NamedThing Abnormality of lingual tonsil An abnormality of a lingual tonsil. hp0009lx5z vasilevs 2015-08-07T03:39:15Z UMLS:C4073283 human_phenotype owl:Class HP:0011708 biolink:NamedThing Mobitz II atrioventricular block A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval. hp0009lx5z Mobitz type 2 atrioventricular block Mobitz I atrioventricular block is usually associated with a prolonged QRS duration. peter 2012-04-11T07:34:09Z UMLS:C0155700|SNOMEDCT_US:28189009 human_phenotype owl:Class HP:0011706 biolink:NamedThing Second degree atrioventricular block An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction. hp0009lx5z peter 2012-04-11T07:22:35Z UMLS:C0264906|SNOMEDCT_US:195042002 human_phenotype owl:Class HP:0008527 biolink:NamedThing Congenital sensorineural hearing impairment A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. hp0009lx5z Congenital sensorineural hearing loss|Hearing loss, congenital sensorineural|Bilateral congenital sensorineural deafness|Congenital sensorineural deafness|Congenital perceptive deafness|Congenital neurosensory deafness HP:0008543|HP:0008558|HP:0008540|HP:0008556|HP:0008571|HP:0004455|HP:0008561|HP:0008620|HP:0008546|HP:0008612|HP:0008520|HP:0008521|HP:0004457|HP:0008603|HP:0008545 UMLS:C1865866|SNOMEDCT_US:700453005 human_phenotype owl:Class HP:0031531 biolink:NamedThing Sub-RPE deposits Deposits accumulating between the retinal pigment epithelium and Bruch's membrane. hp0009lx5z 2017-09-24 00:50:33+00:00 This feature is related to Subretinal hyporeflective spaces on macular OCT. peter owl:Class HP:0030413 biolink:NamedThing Squamous cell carcinoma of the tongue A carcinoma derived from a squamous epithelial cell of the tongue. hp0009lx5z Squamous cell carcinoma of the tongue is often painless and may present as a non-healing ulcer that demonstrates growth over time. UMLS:C0349566|SNOMEDCT_US:276952000 owl:Class HP:0006591 biolink:NamedThing Absent glenoid fossa Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. hp0009lx5z Aplasia of the glenoid fossa UMLS:C4021589 human_phenotype owl:Class HP:0000078 biolink:NamedThing Abnormality of the genital system An abnormality of the genital system. hp0009lx5z Genital anomalies|Abnormality of the reproductive system|Genital abnormality|Genital abnormalities|Genital defects UMLS:C0744356|UMLS:C0281966 human_phenotype owl:Class HP:0100485 biolink:NamedThing Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal hp0009lx5z Fused innermost bone of the 4th toe with 4th long bone of foot UMLS:C4022046 human_phenotype owl:Class HP:0000799 biolink:NamedThing Renal steatosis Abnormal fat accumulation in the kidneys. hp0009lx5z Fatty kidney UMLS:C4021796 human_phenotype owl:Class HP:0012345 biolink:NamedThing Abnormal glycosylation An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. hp0009lx5z peter 2013-09-15T09:06:16Z UMLS:C4022946 human_phenotype owl:Class HP:0002490 biolink:NamedThing Increased CSF lactate Increased concentration of lactate in the cerebrospinal fluid. hp0009lx5z Increased cerebrospinal fluid lactate|Increased CSF lactic acid|Hyperlactatorachia UMLS:C1167918 human_phenotype owl:Class HP:0010344 biolink:NamedThing Deviation of the 5th toe hp0009lx5z Displacement of the 5th toe|Displacement of the pinkie toe|Displacement of the little toe|Displacement of the pinky toe doelkens 2009-07-16T11:41:49Z UMLS:C4021291 human_phenotype owl:Class HP:0012315 biolink:NamedThing Histiocytoma A neoplasm containing histiocytes. hp0009lx5z peter 2013-08-10T12:30:05Z MSH:D051642|SNOMEDCT_US:128741006|UMLS:C1509147|SNOMEDCT_US:302843004 human_phenotype owl:Class HP:0020122 biolink:NamedThing Bite cells Red blood cells that appear to have parts of them bitten away. hp0009lx5z Blister cells|Degmacytes This feature can be observed with acute hemolytic anemia (AHA) related to glucose-6-phosphate dehydrogenase (G6PD) deficiency. In this disorder, AHA can be triggered by ingestion of fave beans, infections, and certain medications. The blood film can show poikilocytosis with bite cells. robinp 2019-07-02 20:24:07+00:00 owl:Class HP:4000009 biolink:NamedThing Kinesiophobia An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury. hp0009lx5z 2021-04-25 23:41:10+00:00 robinp owl:Class HP:0011754 biolink:NamedThing Pituicytoma A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern. hp0009lx5z peter 2012-04-22T01:34:00Z SNOMEDCT_US:450901008|SNOMEDCT_US:608817003|ICD-O:9432/1|UMLS:C2986550 human_phenotype owl:Class HP:0010748 biolink:NamedThing Ectopic lacrimal punctum Positioning of a lacrimal punctum other than at the medial margins of the eyelid. hp0009lx5z Abnormal position of the lacrimal punctum The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Ectopic positions can include the upper eyelid, nasal bridge, or inferior to medial aspect of the lower lid. sdoelken 2010-04-23T09:35:56Z UMLS:C4021230 human_phenotype owl:Class HP:0012216 biolink:NamedThing Entrapment neuropathy of suprascapular nerve An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region. hp0009lx5z Suprascapular nerve entrapment peter 2013-03-14T08:09:05Z UMLS:C0393890|SNOMEDCT_US:230635000 human_phenotype owl:Class HP:0041145 biolink:NamedThing Fractured acetabular part of hip bone A partial or complete breakage of the acetabular part of hip bone. hp0009lx5z bone acetabular part of hip bone owl:Class HP:0009706 biolink:NamedThing Synostosis involving the 3rd metacarpal hp0009lx5z Fusion involving the 3rd long bone of hand doelkens 2009-01-30T04:32:03Z UMLS:C4024227 human_phenotype owl:Class HP:0010665 biolink:NamedThing Bilateral coxa valga The presence of bilateral coxa valga. hp0009lx5z peter 2010-02-26T08:07:03Z UMLS:C3810018 human_phenotype owl:Class HP:0002673 biolink:NamedThing Coxa valga Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). hp0009lx5z Coxa valga deformity SNOMEDCT_US:299236004|UMLS:C0239137|UMLS:C3549698|MSH:D060906 human_phenotype owl:Class HP:0000608 biolink:NamedThing Macular degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. hp0009lx5z Pigmented macular degeneration HP:0007694|HP:0007868 UMLS:C0024437|SNOMEDCT_US:422338006 human_phenotype owl:Class HP:0005474 biolink:NamedThing Decreased calvarial ossification Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). hp0009lx5z Poorly ossified calvarium|Soft calvaria|Undermineralized calvarium|Skull soft on palpation|Soft skullcap|Poorly ossified calvaria HP:0002702|HP:0005471|HP:0002701|HP:0005454 UMLS:C1833762 human_phenotype owl:Class HP:0032522 biolink:NamedThing Ameliorated by immunosuppresion Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication. hp0009lx5z Immunosupressive therapy improves condition 2019-05-26 11:24:41+00:00 peter owl:Class HP:0040135 biolink:NamedThing Abnormal transferrin saturation Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. hp0009lx5z HPO:skoehler UMLS:C4022419 owl:Class HP:0011031 biolink:NamedThing Abnormality of iron homeostasis An abnormality of the homeostasis (concentration) of iron cation. hp0009lx5z peter 2011-03-04T08:01:07Z UMLS:C4023583 human_phenotype owl:Class HP:0012672 biolink:NamedThing Akinetic mutism Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking. hp0009lx5z peter 2014-02-27T10:50:59Z SNOMEDCT_US:53333005|MSH:D000405|UMLS:C0001889 human_phenotype owl:Class HP:0002707 biolink:NamedThing Palate telangiectasia The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. hp0009lx5z Palatal telangiectasia|Palate telangiectases|Spider veins of the roof of the mouth|Telangiectasia of the roof of the mouth|Palate teleangiectases|Palatal angioectasia|Palatal spider veins HP:0000229 UMLS:C4280267|UMLS:C1857699 human_phenotype owl:Class HP:0100270 biolink:NamedThing Abnormality of dorsoventral patterning of the limbs An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs. hp0009lx5z doelkens 2010-07-22T05:02:27Z UMLS:C4022174 human_phenotype owl:Class HP:0025218 biolink:NamedThing Triggered by hyperventilation Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing. hp0009lx5z Hyperventilation triggered symptoms|Triggered by hyperventilation 2016-12-10 14:02:50+00:00 HPO:probinson owl:Class HP:0033016 biolink:NamedThing Chronic decreased circulating IgD A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood. hp0009lx5z Chronic decreased IgM in blood peter owl:Class HP:0032960 biolink:NamedThing Intratubular calcium phosphate casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. hp0009lx5z peter owl:Class HP:0031024 biolink:NamedThing Cylindroma A benign skin adnexal tumor of eccrine differentiation. hp0009lx5z 2017-05-21 13:32:29+00:00 Cylindromas can be single or multiple and commonly involve the scalp (turban tumor) and face. Multiple cylindromas can have a syndromic association as seen in Brooke-Spiegler syndrome and familial cylindromatosis. peter owl:Class HP:0410030 biolink:NamedThing Cleft lip A gap in the lip or lips. hp0009lx5z Cleft of the lip|Cleft lip 2017-06-20 22:17:35+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0000202 biolink:NamedThing Oral cleft The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. hp0009lx5z Cleft lip/palate|Oral clefting|Cleft of the mouth|Cleft lip, cleft palate UMLS:C4021813|SNOMEDCT_US:253983005|UMLS:C0158646|SNOMEDCT_US:66948001 human_phenotype owl:Class HP:0031912 biolink:NamedThing Trigeminal anesthesia Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth. hp0009lx5z Trigeminal anaesthesia 2018-06-23 13:56:37+00:00 peter owl:Class HP:0031911 biolink:NamedThing Abnormal fifth cranial nerve physiology hp0009lx5z 2018-06-23 13:55:25+00:00 peter owl:Class HP:0041224 biolink:NamedThing Fractured manual digit bone A partial or complete breakage of the manual digit bone. hp0009lx5z bone manual digit bone owl:Class HP:0005562 biolink:NamedThing Multiple renal cysts The presence of many cysts in the kidney. hp0009lx5z Multiple kidney cysts SNOMEDCT_US:253883006|UMLS:C0431718 human_phenotype owl:Class HP:0001159 biolink:NamedThing Syndactyly Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". hp0009lx5z Webbed fingers or toes Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. HP:0001206|HP:0001236 MSH:D013576|SNOMEDCT_US:373413006|Fyler:4174|UMLS:C0039075 human_phenotype owl:Class HP:0040194 biolink:NamedThing Increased head circumference An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. hp0009lx5z Increased head circumference UMLS:C4083076 owl:Class HP:0011377 biolink:NamedThing Aplasia of the vestibule Complete absence of the vestibule of the inner ear. hp0009lx5z Absent vestibule peter 2012-03-07T08:37:27Z UMLS:C4023389 human_phenotype owl:Class HP:0010481 biolink:NamedThing Urethral valve The presence of an abnormal membrane obstructing the urethra. hp0009lx5z peter 2009-09-15T10:38:46Z SNOMEDCT_US:297163001|UMLS:C0266345 human_phenotype owl:Class HP:0012547 biolink:NamedThing Abnormal involuntary eye movements Anomalous movements of the eyes that occur without the subject wanting them to happen. hp0009lx5z peter 2013-12-21T10:37:42Z UMLS:C4022855 human_phenotype owl:Class HP:0500236 biolink:NamedThing Increased CSF histidine concentration Abnormally increased levels of histidine in cerebrospinal fluid. hp0009lx5z High histidine levels in cerebrospinal fluid 2019-02-25 21:08:11+00:00 owl:Class HP:0500235 biolink:NamedThing Abnormal CSF histidine concentration Any deviation from the normal concentration of histidine in the cerebrospinal fluid. hp0009lx5z Abnormal histidine levels in cerebrospinal fluid 2019-02-25 21:07:30+00:00 owl:Class HP:0012245 biolink:NamedThing Sex reversal Development of the reproductive system is inconsistent with the chromosomal sex. hp0009lx5z Sex reversal is present if an XX individual develops phenotypically as a male or if an XY individual develops as a female. peter 2013-04-02T07:04:44Z UMLS:C4022995 human_phenotype owl:Class HP:0012244 biolink:NamedThing Abnormal sex determination Anomaly of primary or secondary sexual development or characteristics. hp0009lx5z peter 2013-04-02T07:03:45Z UMLS:C4022996 owl:Class HP:0031050 biolink:NamedThing Whole-immunoglobulin paraproteinemia An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp0009lx5z 2017-05-27 14:30:25+00:00 peter owl:Class HP:0001788 biolink:NamedThing Premature rupture of membranes Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. hp0009lx5z HP:0002163 SNOMEDCT_US:237266003|SNOMEDCT_US:44223004|UMLS:C0015944|MSH:D005322 human_phenotype owl:Class HP:0004400 biolink:NamedThing Abnormality of the pylorus An abnormality of the pylorus. hp0009lx5z peter 2008-03-18T09:15:00Z UMLS:C4025326 human_phenotype owl:Class HP:0009184 biolink:NamedThing Contracture of the distal interphalangeal joint of the 5th finger Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue. hp0009lx5z peter 2008-12-29T04:16:15Z UMLS:C4024551 human_phenotype owl:Class HP:0032550 biolink:NamedThing Howell-Jolly bodies Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets. hp0009lx5z 2019-06-14 10:19:19+00:00 Purple spheres, usually about 0.5 micrometers in diameter, presenting singly, or rarely multiply, in the cytoplasm of red blood cells. peter owl:Class HP:0020080 biolink:NamedThing Erythrocyte inclusion bodies Nuclear or cytoplasmic aggregates of substances in red blood cells. hp0009lx5z 2019-02-25 13:41:04+00:00 robinp owl:Class HP:0000062 biolink:NamedThing Ambiguous genitalia A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. hp0009lx5z Intersex genitalia|Ambiguous external genitalia|Ambiguous external genitalia at birth Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. HP:0008685|HP:0008693 MSH:D012734|SNOMEDCT_US:21321009|UMLS:C0266362 human_phenotype owl:Class HP:0004025 biolink:NamedThing Spurred radial metaphysis hp0009lx5z UMLS:C4025435 human_phenotype owl:Class HP:0025513 biolink:NamedThing Scleral rupture Breakage of the sclera. hp0009lx5z 2017-05-15 01:54:50+00:00 Scleral rupture may occur following trauma or may be observed with some types of Ehlers Danlos syndrome and other disorders. The rupture may be hidden by an intact conjunctiva. HPO:probinson owl:Class HP:0020072 biolink:NamedThing Persistent EBV viremia Persistent presence of Epstein-Barr virus in the blood. hp0009lx5z 2019-01-21 22:36:17+00:00 Primary EBV infection is often asymptomatic in the immunocompetent host. In immunodeficient patients, however, primary EBV infection or secondary reactivation may result in persistent symptomatic EBV viremia, a clinical condition with a prolonged (over 6 months) and distinct symptomatic phase with fever, lymphadenophathy and several other possible features such as hepatitis and pneumonia. Persistent symptomatic EBV viremia can be associated with lymphoma, lymphoproliferative disease, hemophagocyticlymphohistiocytosis (HLH) and aplastic anemia, but most typically goes into spontaneous remission. robinp owl:Class HP:0032248 biolink:NamedThing Persistent viremia Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host. hp0009lx5z 2019-01-27 13:36:30+00:00 peter owl:Class HP:0001744 biolink:NamedThing Splenomegaly Abnormal increased size of the spleen. hp0009lx5z Increased spleen size HP:0006269|HP:0001745 UMLS:C0038002|SNOMEDCT_US:16294009|MSH:D013163 human_phenotype owl:Class HP:0010165 biolink:NamedThing Enlarged epiphyses of the toes hp0009lx5z Enlarged end part of the toe bones doelkens 2009-05-29T01:34:06Z UMLS:C4023994 human_phenotype owl:Class HP:0001889 biolink:NamedThing Megaloblastic anemia Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). hp0009lx5z Megaloblastic anaemia Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. HP:0004858 SNOMEDCT_US:53165003|UMLS:C0002888|MSH:D000749 human_phenotype owl:Class HP:0410322 biolink:NamedThing Bacteria allergy Hypersensitivity in form of an adverse immune reaction against bacteria. hp0009lx5z Bacteria allergy|Immunoglobulin E-mediated bacteria allergy|IgE-mediated bacteria allergy|Allergy to bacteria owl:Class HP:0007768 biolink:NamedThing Central retinal vessel vascular tortuosity The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). hp0009lx5z Tortuosity of main retinal vessels HP:0008015 UMLS:C4021569 human_phenotype owl:Class HP:0000631 biolink:NamedThing Retinal arterial tortuosity The presence of an increased number of twists and turns of the retinal artery. hp0009lx5z Retinal artery tortuousity SNOMEDCT_US:247123003|UMLS:C0423401 human_phenotype owl:Class HP:0005997 biolink:NamedThing Restricted neck movement due to contractures hp0009lx5z Restricted neck movement due to contractures|Restricted neck mobility due to contractures|Neck flexion contracture UMLS:C1867006 owl:Class HP:0001050 biolink:NamedThing Plethora hp0009lx5z Related to polycythemia. SNOMEDCT_US:75246004|UMLS:C0232370 human_phenotype owl:Class HP:0001005 biolink:NamedThing Dermatological manifestations of systemic disorders hp0009lx5z UMLS:C4025812 human_phenotype owl:Class HP:0100430 biolink:NamedThing Broad proximal phalanx of the 5th toe hp0009lx5z Broad innermost bone of the pinky toe|Broad innermost bone of the little toe|Broad innermost bone of the pinkie toe UMLS:C4022097 human_phenotype owl:Class HP:0007898 biolink:NamedThing Exudative retinopathy hp0009lx5z MSH:D058456|SNOMEDCT_US:360455002|SNOMEDCT_US:25506007|UMLS:C0154832 human_phenotype owl:Class HP:0100788 biolink:NamedThing Fused lips Lack of separation of the upper and lower lips. hp0009lx5z Fusion of upper and lower lips|Adhesion of upper and lower lips|Fused lips doelkens 2011-06-08T02:16:16Z UMLS:C4021970 human_phenotype owl:Class HP:0004618 biolink:NamedThing Sandwich appearance of vertebral bodies hp0009lx5z UMLS:C1850134 human_phenotype owl:Class HP:0004523 biolink:NamedThing Long eyebrows Increased length of the hairs of the eyebrows. hp0009lx5z Increased horizontal length of eyebrow|Long eyebrows|Elongated eyebrow|Increased transverse length of eyebrow UMLS:C3280131 human_phenotype owl:Class HP:0001973 biolink:NamedThing Autoimmune thrombocytopenia The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. hp0009lx5z Immune thrombocytopenia|Idiopathic thrombocytopenic purpura|Idiopathic thrombocytopenia Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection. HP:0004806|HP:0004829|HP:0001936 UMLS:C0398650|SNOMEDCT_US:234490009|MSH:D016553|UMLS:C0920163|SNOMEDCT_US:128091003|UMLS:C0242584|SNOMEDCT_US:13172003|SNOMEDCT_US:32273002 owl:Class HP:0025313 biolink:NamedThing Exophoria A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia. hp0009lx5z 2016-12-21 01:46:52+00:00 HPO:probinson owl:Class HP:0032011 biolink:NamedThing Heterophoria Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs. hp0009lx5z 2018-07-22 15:44:43+00:00 In contrast to heterophoria, heterotropias are manifest deviations. Some individuals may be phoric in one situation (e.g. for distance) and tropic in another (e.g. for near). The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia. peter owl:Class HP:0008962 biolink:NamedThing Calf muscle hypoplasia Underdevelopment of the muscuklature of the calf. hp0009lx5z Hypoplastic calf muscles|Underdeveloped calf muscles UMLS:C3805450 human_phenotype owl:Class HP:0009004 biolink:NamedThing Hypoplasia of the musculature Underdevelopment of the musculature. hp0009lx5z Poorly developed skeletal musculature|Underdeveloped muscle|Underdeveloped muscles|Muscle hypoplasia HP:0009034 UMLS:C0240414|SNOMEDCT_US:205530002 human_phenotype owl:Class HP:0008922 biolink:NamedThing Childhood-onset short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. hp0009lx5z Childhood-onset short-trunk short stature|Disproportionate short-trunk short stature, identifiable in childhood|Short-trunk dwarfism identifiable during childhood HP:0003522 UMLS:C3148833 human_phenotype owl:Class HP:0100225 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 5th toe hp0009lx5z Bracket shaped end part of the innermost bone of the little toe|Bracket shaped end part of the innermost bone of the pinkie toe|Bracket shaped end part of the innermost bone of the pinky toe doelkens 2010-06-24T05:04:53Z UMLS:C4022196 human_phenotype owl:Class HP:0005255 biolink:NamedThing Absence of pectoralis minor muscle Aplasia (congenital absence) of the pectoralis minor. hp0009lx5z Pectoralis minor aplasia UMLS:C1868158 human_phenotype owl:Class HP:0033165 biolink:NamedThing Necrotizing enterocolitis Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine. hp0009lx5z 2020-09-24 09:32:06+00:00 Necrotizing enterocolitis almost exclusively affects neonates. peter owl:Class HP:0004387 biolink:NamedThing Enterocolitis An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). hp0009lx5z peter 2008-03-18T09:02:00Z SNOMEDCT_US:43752006|MSH:D004760|UMLS:C0014356 human_phenotype owl:Class HP:0012321 biolink:NamedThing D-2-hydroxyglutaric aciduria An increased concentration of 2-hydroxyglutaric acid in the urine. hp0009lx5z peter 2013-08-11T08:46:46Z SNOMEDCT_US:237960000|UMLS:C1833429 human_phenotype owl:Class HP:0032278 biolink:NamedThing 2-hydroxyglutarate aciduria An increase in the level of 2-hydroxyglutaric acid in the urine. hp0009lx5z 2019-01-27 21:55:32+00:00 2-hydroxyglutaric aciduria can cause causes progressive cerebral damage. peter owl:Class HP:0003637 biolink:NamedThing Reduced 4-Hydroxyphenylpyruvate dioxygenase level An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. hp0009lx5z Reducted HPPD activity Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. UMLS:C4025587 human_phenotype owl:Class HP:0003835 biolink:NamedThing Shoulder subluxation A partial dislocation of the shoulder joint. hp0009lx5z Partial shoulder dislocation SNOMEDCT_US:263051004|UMLS:C0434744 human_phenotype owl:Class HP:0011857 biolink:NamedThing Plasmacytoma A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location. hp0009lx5z Plasmacytoma often generalizes to multiple myeloma over the course of several years. hecht 2012-05-21T11:34:44Z MSH:D010954|UMLS:C0032131|SNOMEDCT_US:10639003|SNOMEDCT_US:415112005 human_phenotype owl:Class HP:0033870 biolink:NamedThing Medullary peritubular capillary intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. hp0009lx5z Intraluminal thrombi within medullary peritubular capillaries 2021-06-23 19:10:41+00:00 peter owl:Class HP:0033868 biolink:NamedThing Abnormal medullary peritubular capillary lumen morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. hp0009lx5z 2021-06-23 19:04:46+00:00 peter owl:Class HP:0025639 biolink:NamedThing Increased urinary zinc level An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection. hp0009lx5z 2019-04-26 18:12:28+00:00 HPO:probinson owl:Class HP:0025640 biolink:NamedThing Abnormal urinary mineral level An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium. hp0009lx5z 2019-04-26 18:13:40+00:00 HPO:probinson owl:Class HP:0007505 biolink:NamedThing Progressive hyperpigmentation hp0009lx5z UMLS:C4024859 human_phenotype owl:Class HP:0045006 biolink:NamedThing Aplasia of lymphatic vessels Aplasia (absence) of the lymphatic vessels. hp0009lx5z Absent lymphatic vessels HPO:skoehler UMLS:C4022404 owl:Class HP:0005456 biolink:NamedThing Absent ethmoidal sinuses Lack (aplasia) of the ethmoidal sinus. hp0009lx5z Agenesis of ethmoid sinuses|Failure of development of ethmoid sinuses|Missing ethmoid sinuses UMLS:C4025194 human_phenotype owl:Class HP:3000040 biolink:NamedThing Abnormality of ethmoid sinus An abnormality of an ethmoid sinus. hp0009lx5z Abnormality of ethmoidal air cells vasilevs 2015-08-07T00:36:19Z UMLS:C4073248 human_phenotype owl:Class HP:0005925 biolink:NamedThing Abnormalities of the diaphyses of the hand hp0009lx5z Abnormalities of shaft of long bone of the hand peter 2008-03-27T02:28:00Z UMLS:C4025106 human_phenotype owl:Class HP:0020213 biolink:NamedThing Somatosensory-induced seizure A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise. hp0009lx5z robinp 2020-02-24 13:48:34+00:00 owl:Class HP:0500135 biolink:NamedThing Hypotryptophanemia A decreased amount of tryptophan in the blood. hp0009lx5z Decreased tryptophan in blood|Low blood tryptophan concentration 2018-10-01 15:10:31+00:00 owl:Class HP:0004365 biolink:NamedThing Abnormal circulating tryptophan concentration Any deviation from the normal concentration of tryptophan in the blood circulation. hp0009lx5z Abnormality of tryptophan metabolism peter 2008-03-17T04:55:00Z UMLS:C4025335 human_phenotype owl:Class HP:5000032 biolink:NamedThing Anti-SEZ6L2 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2). hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0032240 biolink:NamedThing Elevated circulating E selectin level An increased concentration of E selectin in the blood circulation. hp0009lx5z 2019-01-26 19:35:17+00:00 peter owl:Class HP:0012392 biolink:NamedThing Jaw hyporeflexia Reduced intensity of muscle tendon reflexes in jaw. hp0009lx5z Mandibular hyporeflexia The jaw jerk is elicited by the examiner placing the tip of the index finger on a relaxed jaw, one that is about one-third open. One then taps briskly on the index finger with the other hand and notes the speed as the mandible is flexed. peter 2013-11-07T07:43:29Z UMLS:C4022918 owl:Class HP:0045037 biolink:NamedThing Abnormality of jaw muscles hp0009lx5z Abnormality of jaw muscles HPO:skoehler UMLS:C4073166 owl:Class HP:0003208 biolink:NamedThing Fingerprint intracellular accumulation of autofluorescent lipopigment storage material An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. hp0009lx5z 'Fingerprint profiles' ultrastructurally in cells|Fingerprint profiles ultrastructurally UMLS:C1836851 human_phenotype owl:Class HP:0003204 biolink:NamedThing Intracellular accumulation of autofluorescent lipopigment storage material The intracellular accumulation of autofluorescent storage material. hp0009lx5z Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation. UMLS:C4025642 human_phenotype owl:Class HP:0040294 biolink:NamedThing Duplicated tongue hp0009lx5z Tongue duplicated|Tongue duplication|Duplication of tongue owl:Class HP:0032999 biolink:NamedThing Increased fecal porphyrin Abnormally high concentration of fecal porphyrins in feces. hp0009lx5z Increased faecal porphyrin peter owl:Class HP:0032483 biolink:NamedThing Abnormal fecal test result Abnormal level of metabolite or other abnormal analyte result in a stool test. hp0009lx5z Abnormal faecal test result 2019-04-11 11:37:42+00:00 peter owl:Class HP:0010731 biolink:NamedThing Extension of eyebrows towards upper eyelid The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid. hp0009lx5z Extension of eyebrows towards upper eyelid This is commonly a feature of Jacobson syndrome. doelkens 2010-04-21T04:46:32Z UMLS:C4023717 human_phenotype owl:Class HP:0002367 biolink:NamedThing Visual hallucinations Visual perceptions that are not elicited by a corresponding stimulus from the outside world. hp0009lx5z Visual hallucinations UMLS:C0233763|SNOMEDCT_US:64269007|MSH:D006212 owl:Class HP:0007525 biolink:NamedThing Yellow subcutaneous tissue covered by thin, scaly skin hp0009lx5z UMLS:C1850533 human_phenotype owl:Class HP:0008716 biolink:NamedThing Urethrovaginal fistula The presence of a fistula between the vagina and the urethra. hp0009lx5z Urethrovaginal fistulae SNOMEDCT_US:50477003|UMLS:C0269133 human_phenotype owl:Class HP:0006254 biolink:NamedThing Elevated alpha-fetoprotein An increased concentration of alpha-fetoprotein. hp0009lx5z Alpha fetoprotein abnormal|Increased levels of alpha fetoprotein|Serum alpha-fetoprotein increased|Increased serum alpha-fetoprotein An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalocele. peter 2008-03-28T09:17:00Z UMLS:C0476489|UMLS:C0235971 human_phenotype owl:Class HP:0045056 biolink:NamedThing Abnormal levels of alpha-fetoprotein hp0009lx5z UMLS:C4073179 owl:Class HP:0012346 biolink:NamedThing Abnormal protein glycosylation An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. hp0009lx5z peter 2013-09-15T09:09:40Z UMLS:C4022945 human_phenotype owl:Class HP:0025453 biolink:NamedThing Delayed adrenarche Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development. hp0009lx5z 2017-05-04 10:41:47+00:00 HPO:probinson owl:Class HP:0011844 biolink:NamedThing Abnormal appendicular skeleton morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. hp0009lx5z peter 2012-05-07T08:12:26Z UMLS:C4023163 human_phenotype owl:Class HP:0007950 biolink:NamedThing Peripapillary chorioretinal atrophy Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). hp0009lx5z UMLS:C4024765 human_phenotype owl:Class HP:0000533 biolink:NamedThing Chorioretinal atrophy Atrophy of the choroid and retinal layers of the fundus. hp0009lx5z Chorioretinal thinning Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy. HP:0001150|HP:0007931|HP:0007918|HP:0007884 SNOMEDCT_US:95686007|UMLS:C4048273 human_phenotype owl:Class HP:0011727 biolink:NamedThing Peroneal muscle weakness Weakness of the peroneal muscles. hp0009lx5z Fibularis muscle weakness THe peroneal muscles (also known as fibularis muscles) originate from the fibula. The peroneal longus and brevis muscles are located on the lateral side of the leg, while peroneal tertius is on the anterior side. peter 2012-04-11T10:26:15Z UMLS:C0240733 human_phenotype owl:Class HP:0012228 biolink:NamedThing Tension-type headache A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs. hp0009lx5z Tension-type headache peter 2013-03-30T07:50:13Z ICD-10:G44.2|UMLS:C0033893|SNOMEDCT_US:398057008|MSH:D018781|SNOMEDCT_US:66551002 human_phenotype owl:Class HP:0031733 biolink:NamedThing Reflex tearing A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease). hp0009lx5z 2018-01-21 13:32:30+00:00 peter owl:Class HP:0031731 biolink:NamedThing Increased tear production Increased lacrimation owing to overproduction of tears. hp0009lx5z 2018-01-21 13:27:49+00:00 peter owl:Class HP:0001283 biolink:NamedThing Bulbar palsy Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. hp0009lx5z Bulbar weakness|Bulbar muscle weakness|Bulbar palsies HP:0003709|HP:0003441 SNOMEDCT_US:398432008|UMLS:C1301959|MSH:D010244|UMLS:C4082299 human_phenotype owl:Class HP:0030014 biolink:NamedThing Female sexual dysfunction A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity hp0009lx5z UMLS:C1112442 owl:Class HP:0033081 biolink:NamedThing Absent TSH response to thyrotrophin-releasing hormone stimulation test Failure to increase serum TSH levels in response to a TRH stimulation test. hp0009lx5z peter owl:Class HP:0031203 biolink:NamedThing Fatty casts A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. hp0009lx5z 2017-06-27 11:10:06+00:00 The presence of fatty casts in urine may be associated with heavy proteinuria in patients with nephrotic syndrome. peter owl:Class HP:0031199 biolink:NamedThing Acellular urinary casts A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells. hp0009lx5z Acellular casts 2017-06-27 10:55:36+00:00 peter owl:Class HP:0007608 biolink:NamedThing Abnormal palmar dermal ridges hp0009lx5z UMLS:C4024833 human_phenotype owl:Class HP:0004488 biolink:NamedThing Macrocephaly at birth The presence of an abnormally large skull with onset at birth. hp0009lx5z Big skull present since birth|Congenital large head|Big head present since birth|Large head present at birth|Large cranium present at birth|Large skull present at birth|Head circumference large for gestational age|Big skull present at birth|Big cranium present since birth|Congenital large skull|Large head present since birth|Large cranium present since birth|Big head present at birth|Congenital macrocephaly|Congenital large cranium|Large skull present since birth|Big cranium present at birth UMLS:C1836599 human_phenotype owl:Class HP:0000256 biolink:NamedThing Macrocephaly Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. hp0009lx5z Large skull|Big skull|Large head|Large head circumference|Big head|Increased size of head|Large cranium|Big cranium|Increased size of cranium|Big calvaria|Large calvaria|Megacephaly|Increased size of skull|Macrocrania Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. HP:0005491|HP:0200135|HP:0005496 UMLS:C4083076|UMLS:C4280664|UMLS:C4255213|Fyler:4335|UMLS:C4280663 owl:Class HP:0005466 biolink:NamedThing Hypoplasia of the frontal bone Underdevelopment of the frontal bone. hp0009lx5z Thin bone of forehead|Underdevelopment of bone of forehead|Decreased size of bone of forehead|Small bone of forehead|Hypotrophic frontal bone|Hypotrophic frontal bones|Hypoplastic frontal bones HP:0005493 UMLS:C4280484|UMLS:C4280483|UMLS:C1845147 human_phenotype owl:Class HP:0011218 biolink:NamedThing Abnormal shape of the frontal region An abnormal shape of the frontal part of the head. hp0009lx5z Abnormal shape of the forehead|Abnormal morphology of the frontal region|Dysmorphic forehead|Dysmorphic frontal region peter 2011-12-03T10:26:03Z UMLS:C4023458 human_phenotype owl:Class HP:0000999 biolink:NamedThing Pyoderma Any manifestation of a skin disease associated with the production of pus. hp0009lx5z Pus-filled lesion Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. MSH:D011711|SNOMEDCT_US:70759006|UMLS:C0034212 human_phenotype owl:Class HP:0012506 biolink:NamedThing Small pituitary gland An abnormally decreased size of the pituitary gland. hp0009lx5z peter 2013-11-30T09:37:34Z UMLS:C4022873 human_phenotype owl:Class HP:0009092 biolink:NamedThing Progressive alveolar ridge hypertropy hp0009lx5z Progressive hypertrophy of alveolar process of jaw|Increasing size of gum ridge|Increasing overgrowth of gum ridge UMLS:C4280407|UMLS:C1854934 human_phenotype owl:Class HP:0410291 biolink:NamedThing Negativism Opposing or not responding to instructions or external stimuli. hp0009lx5z 2019-01-28 20:32:25+00:00 owl:Class HP:0100863 biolink:NamedThing Aplasia of the femoral neck hp0009lx5z Absent neck of thighbone doelkens 2011-11-30T10:48:08Z UMLS:C4021949 human_phenotype owl:Class HP:0003268 biolink:NamedThing Argininuria A increased concentration of arginine in the urine. hp0009lx5z High urine arginine levels Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours. UMLS:C4025635 human_phenotype owl:Class HP:0009221 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 4th finger A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-01-05T05:23:59Z UMLS:C4024520 human_phenotype owl:Class HP:0032487 biolink:NamedThing Reduced fecal osmolality Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram. hp0009lx5z Reduced faecal osmolality 2019-04-11 11:42:10+00:00 peter owl:Class HP:0032485 biolink:NamedThing Abnormal fecal osmolality Abnormal concentration of feces as assessed by the total number of solute particles per kilogram. hp0009lx5z Abnormal faecal osmolality 2019-04-11 11:40:55+00:00 peter owl:Class HP:0005949 biolink:NamedThing Apneic episodes in infancy Recurrent episodes of apnea occurring during infancy. hp0009lx5z UMLS:C3807980 human_phenotype owl:Class HP:0040288 biolink:NamedThing Nasogastric tube feeding The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. hp0009lx5z owl:Class HP:0002183 biolink:NamedThing Phonophobia An abnormally heightened sensitivity to loud sounds. hp0009lx5z Fear of loud sounds Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest. MSH:D012001|UMLS:C0751466|SNOMEDCT_US:313387002 human_phenotype owl:Class HP:0007850 biolink:NamedThing Retinal vascular proliferation hp0009lx5z UMLS:C0035320|MSH:D015861|SNOMEDCT_US:61267008 human_phenotype owl:Class HP:0007285 biolink:NamedThing Facial palsy secondary to cranial hyperostosis Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve. hp0009lx5z Facial palsy caused by overgrowth of cranial bones|Facial palsy caused by enlargement of cranial bones|Facial palsy caused by excessive growth of facial bones|Facial palsy secondary to hypertrophy of cranial bones UMLS:C1849260 human_phenotype owl:Class HP:0005465 biolink:NamedThing Facial hyperostosis Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. hp0009lx5z Increased ossification of facial bones|Hyperostosis of facial bones|Hypertrophy of facial skeleton|Increase in size of the facial bones|Enlargement of facial bones|Increased ossification of facial skeleton|Excessive growth of facial bones|Overgrowth of facial bones|Excessive growth of facial skeleton|Hyperostosis of facial skeleton|Overgrowth of the facial bones|Enlargement of facial skeleton|Overgrowth of facial skeleton|Enlargment of the facial bones|Hypertrophy of facial bones|Hypertrophy of the facial bones HP:0008508 UMLS:C4280486|UMLS:C4280485|UMLS:C4280487|UMLS:C1857501 human_phenotype owl:Class HP:0010620 biolink:NamedThing Malar prominence Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. hp0009lx5z Malar excess|Prominent malar region|Hyperplasia of malar bones|Malar hyperplasia Increased prominence of the malar region (cheeks), as manifested by anterior positioning of the infraorbital and perialar regions or increased convexity of the face or increased naso-labial angle. peter 2009-11-02T07:53:02Z HP:0000310 UMLS:C4280374|UMLS:C1858732 human_phenotype owl:Class HP:0004150 biolink:NamedThing Abnormal 3rd finger morphology An anomaly of the third finger. hp0009lx5z Abnormality of the middle finger|Abnormality of the 3rd finger UMLS:C4021682 human_phenotype owl:Class HP:0410277 biolink:NamedThing Sternal pit A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum. hp0009lx5z 2018-10-30 18:23:42+00:00 owl:Class HP:0033522 biolink:NamedThing Cerebral cavernous malformation A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries. hp0009lx5z 2021-01-14 13:02:40+00:00 Cerebral cavernous malformation (CCMs) have been reported to be the second most common vascular malformation of the central nervous system after developmental venous anomalies (DVA). The majority of CCM cases comprises a single lesion with or without associated DVA. These are called sporadic CCMs and are often asymptomatic and nonhereditary. The other type, called hereditary or familial CCM (FCCM), is due to autosomal dominant inherited genetic mutation, associated with multiple lesions. CCM can be found at multiple locations in the central nervous system with supratentorial lesions being more common than the infratentorial lesions. peter owl:Class HP:0001048 biolink:NamedThing Cavernous hemangioma The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. hp0009lx5z Collection of dilated blood vessels that forms mass|Cavernous haemangioma|Cavernous angioma SNOMEDCT_US:416824008|MSH:D006392|UMLS:C0018920|SNOMEDCT_US:33377007|NCIT:C3086|MEDDRA:10055899|SNOMEDCT_US:56975005 human_phenotype owl:Class HP:0009893 biolink:NamedThing Telangiectasia of the ear The presence of telangiectasia of the ear. hp0009lx5z peter 2009-04-30T10:07:39Z UMLS:C4024169 human_phenotype owl:Class HP:0033684 biolink:NamedThing Abnormal muscle fiber-type distribution Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types hp0009lx5z 2021-03-07 22:37:42+00:00 peter owl:Class HP:0002156 biolink:NamedThing Homocystinuria An increased concentration of homocystine in the urine. hp0009lx5z High urine homocystine levels Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. MSH:D006712|UMLS:C0019880|SNOMEDCT_US:11282001 human_phenotype owl:Class HP:0005258 biolink:NamedThing Pectoral muscle hypoplasia/aplasia hp0009lx5z Small/absent pec muscle|Underdeveloped/absent pec muscle UMLS:C4025226 human_phenotype owl:Class HP:0009071 biolink:NamedThing Inflammatory myopathy Chronic muscle inflammation accompanied by muscle weakness. hp0009lx5z SNOMEDCT_US:26889001|UMLS:C0027121|SNOMEDCT_US:128496001|MSH:D009220 human_phenotype owl:Class HP:0001409 biolink:NamedThing Portal hypertension Increased pressure in the portal vein. hp0009lx5z Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg. SNOMEDCT_US:34742003|UMLS:C0020541|MSH:D006975 human_phenotype owl:Class HP:0031485 biolink:NamedThing Subperiosteal bone formation The formation of new bone along the cortex and underneath the periosteum of a bone. hp0009lx5z Periosteal reaction 2017-09-17 23:02:59+00:00 peter owl:Class HP:0012617 biolink:NamedThing Erythrocyte cylindruria Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. hp0009lx5z Urinary erythrocyte cast|Red blood cell casts peter 2014-01-17T12:06:50Z UMLS:C4022818 human_phenotype owl:Class HP:0009102 biolink:NamedThing Anterior open-bite malocclusion Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. hp0009lx5z Gap between upper and lower front teeth when biting|Anterior openbite|Absence of overlap of anterior upper and lower teeth|AOB|Anterior open bite|Anterior open bite between upper and lower teeth|Apertognathia malocclusion HP:0200095 UMLS:C4024598 owl:Class HP:0000689 biolink:NamedThing Dental malocclusion Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. hp0009lx5z Bilateral crossbite malocclusion|Occlusion anomaly|Angle class 2 malocclusion|Malocclusion of teeth|Misalignment of upper and lower dental arches|Bad bite|Bilateral crossbite|Malalignment of upper and lower dental arches|Angle class 3 malocclusion|Malocclusion|Incorrect relation between upper and lower dental arches UMLS:C0024636|MSH:D008310|SNOMEDCT_US:47944004|UMLS:C4280614|UMLS:C4280613|SNOMEDCT_US:707598004 human_phenotype owl:Class HP:0500241 biolink:NamedThing Abnormal CSF homocarnosine concentration Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid. hp0009lx5z Abnormal homocarnosine levels in cerebrospinal fluid 2019-02-26 15:26:01+00:00 owl:Class HP:0100819 biolink:NamedThing Intestinal fistula An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. hp0009lx5z doelkens 2011-06-09T04:57:15Z UMLS:C0021833|MSH:D007412|MEDDRA:10022647|SNOMEDCT_US:38851006 human_phenotype owl:Class HP:0006166 biolink:NamedThing Tubular metacarpal bones hp0009lx5z Cylindrical shaped long bones of hand UMLS:C1859369 human_phenotype owl:Class HP:0008282 biolink:NamedThing Unconjugated hyperbilirubinemia An increased amount of unconjugated (indirect) bilurubin in the blood. hp0009lx5z HP:0008289 SNOMEDCT_US:7752002|UMLS:C0268306 human_phenotype owl:Class HP:0033570 biolink:NamedThing Indeterminate ventricular axis A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection. hp0009lx5z 2021-01-24 13:44:44+00:00 peter owl:Class HP:0002350 biolink:NamedThing Cerebellar cyst hp0009lx5z Cerebellar cysts UMLS:C1847762 human_phenotype owl:Class HP:0032490 biolink:NamedThing Decreased fecal pH Abnormally low fecal pH, i.e., abnormal acidity of feces. hp0009lx5z Decreased faecal pH 2019-04-11 11:46:07+00:00 peter owl:Class HP:0032488 biolink:NamedThing Abnormal fecal pH Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline. hp0009lx5z Abnormal faecal pH 2019-04-11 11:44:26+00:00 peter owl:Class HP:0025398 biolink:NamedThing Nodular-perilymphatic pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution. hp0009lx5z 2017-04-22 13:12:36+00:00 HPO:probinson owl:Class HP:0005026 biolink:NamedThing Mesomelic/rhizomelic limb shortening hp0009lx5z UMLS:C1866239 human_phenotype owl:Class HP:0012237 biolink:NamedThing Urocanic aciduria An increased concentration of urocanic acid in the urine. hp0009lx5z High urine urocanic acid levels peter 2013-03-31T09:54:48Z UMLS:C0268514|MSH:C536479|SNOMEDCT_US:60952007 human_phenotype owl:Class HP:0001822 biolink:NamedThing Hallux valgus Lateral deviation of the great toe (i.e., in the direction of the little toe). hp0009lx5z Lateral deviation of halluces|Lateral deviation of great toe|Bunion HP:0004682 UMLS:C0006386|MSH:D000071378|MSH:D006215|SNOMEDCT_US:415692008|UMLS:C0018536|SNOMEDCT_US:122480009 human_phenotype owl:Class HP:0041061 biolink:NamedThing Fractured calcaneus A partial or complete breakage of the calcaneus. hp0009lx5z bone calcaneus owl:Class HP:0030450 biolink:NamedThing Neuroplasm of the autonomic nervous system A tumor that arises from an element of the autonomic nervous system. hp0009lx5z NCIT:C5112|UMLS:C4072943 owl:Class HP:0000875 biolink:NamedThing Episodic hypertension hp0009lx5z Intermittent high blood pressure UMLS:C1857175 human_phenotype owl:Class HP:0000822 biolink:NamedThing Hypertension The presence of chronic increased pressure in the systemic arterial system. hp0009lx5z High blood pressure|Systemic hypertension|Arterial hypertension Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. HP:0004949|HP:0005126 MSH:D006973|UMLS:C0497247|SNOMEDCT_US:38341003|UMLS:C0020538|SNOMEDCT_US:24184005 owl:Class HP:0010818 biolink:NamedThing Generalized tonic seizure A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. hp0009lx5z Generalized hypertonic seizure|Hypertonic seizures|Generalised tonic seizure|Generalised hypertonic seizure|Generalised tonic seizures|Generalized tonic seizures Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started. peter 2010-07-10T03:03:51Z HP:0002184 UMLS:C1836508 human_phenotype owl:Class HP:0007777 biolink:NamedThing Chorioretinal scar Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye. hp0009lx5z UMLS:C0008512|SNOMEDCT_US:53854005 human_phenotype owl:Class HP:0009558 biolink:NamedThing Broad distal phalanx of the 2nd finger Increased width of the distal phalanx of the 2nd finger. hp0009lx5z Wide outermost bone of the index finger doelkens 2009-01-28T04:16:02Z UMLS:C4024293 human_phenotype owl:Class HP:0011241 biolink:NamedThing Serpiginous stem of antihelix Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha. hp0009lx5z Antihelix, stem, serpiginous peter 2011-12-18T11:35:53Z UMLS:C4021193 human_phenotype owl:Class HP:0011244 biolink:NamedThing Abnormality of stem of antihelix An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura. hp0009lx5z peter 2011-12-18T11:50:01Z UMLS:C4023445 human_phenotype owl:Class HP:0500272 biolink:NamedThing Abnormal proportion of immature gamma-delta T cells Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells. hp0009lx5z Abnormal proportion of immature gamma-delta T-lymphocytes|Abnormal proportion of immature gamma-delta T-cells|Abnormal proportion of immature gamma-delta T lymphocytes 2020-05-19 15:39:19+00:00 owl:Class HP:0030083 biolink:NamedThing Salt craving An excessive desire to eat salt (sodium chloride) or salty foods. hp0009lx5z Salt craving Salt craving can be a sign of low salt levels, Addison's disease, Gitelman syndrome, and other diseases. UMLS:C0240928 owl:Class HP:0410064 biolink:NamedThing Increased level of galactitol in red blood cells An increase in the level of galactitol in the red blood cells. hp0009lx5z Increased level of galactitol in erythrocytes 2018-01-29 22:40:39+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0011013 biolink:NamedThing Abnormal circulating carbohydrate concentration A deviation from the normal concentration of a carbohydrate in the blood circulation. hp0009lx5z An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them. peter 2011-02-21T09:47:27Z UMLS:C4023599 human_phenotype owl:Class HP:0005250 biolink:NamedThing High intestinal obstruction hp0009lx5z UMLS:C4025227 human_phenotype owl:Class HP:0011589 biolink:NamedThing Common origin of the right brachiocephalic artery and left common carotid artery The left common carotid artery has a common origin with the innominate artery. hp0009lx5z Bovine arch|Common brachiocephalic trunk|Ovine arch Commonly the three great vessels (innominate artery, left common carotid artery, and the left subclavian artery) originate from the arch of the aorta. The second most common variant of aortic arch branching occurs when the left common carotid artery has a common origin with the innominate artery. peter 2012-04-08T01:38:36Z UMLS:C3532020|UMLS:C4021141|SNOMEDCT_US:460890003|UMLS:C4020746 human_phenotype owl:Class HP:0030067 biolink:NamedThing Peripheral primitive neuroectodermal neoplasm A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone. hp0009lx5z SNOMEDCT_US:703707001|SNOMEDCT_US:73676002|UMLS:C0684337|SNOMEDCT_US:253096008|MSH:D018241 owl:Class HP:0031514 biolink:NamedThing Increased proportion of exhausted T cells An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. hp0009lx5z 2017-09-22 02:12:49+00:00 peter owl:Class HP:0009889 biolink:NamedThing Localized hirsutism Abnormally increased hair growth with a localized distribution. hp0009lx5z Localised abnormal hair growth|Localized abnormal hair growth|Localised hirsutism peter 2009-04-30T06:29:20Z UMLS:C4024170 human_phenotype owl:Class HP:0001007 biolink:NamedThing Hirsutism Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). hp0009lx5z Excessive hairiness SNOMEDCT_US:399939002|UMLS:C0019572|MSH:D006628 human_phenotype owl:Class HP:0100415 biolink:NamedThing Complete duplication of the proximal phalanx of the 5th toe Complete duplication of the proximal phalanx of fifth toe. hp0009lx5z Complete duplication of the innermost bone of the pinky toe|Complete duplication of the innermost bone of the pinkie toe|Complete duplication of the innermost bone of the little toe|Complete duplication of the proximal phalanx of the fifth toe UMLS:C4020984 human_phenotype owl:Class HP:0100461 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 3rd toe hp0009lx5z Uneven increase in bone density in the middle bone of the 3rd toe UMLS:C4022066 human_phenotype owl:Class HP:0006313 biolink:NamedThing Widely spaced primary teeth Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. hp0009lx5z Wide gaps between baby teeth|Widely spaced milk teeth|Widely spaced deciduous teeth|Generalized spacing of primary teeth|Generalised spacing of primary teeth|Wide gaps between primary teeth|Widely spaced baby teeth UMLS:C4021603 human_phenotype owl:Class HP:0000687 biolink:NamedThing Widely spaced teeth Increased spaces (diastemata) between most of the teeth in the same dental arch. hp0009lx5z Widely spaced teeth|Multiple diastemata|Generalised dental spacing|Generalized spacing of teeth|Generalised spacing of teeth|Generalized dental spacing|Wide-spaced teeth|Widely-spaced teeth Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. UMLS:C1844813 human_phenotype owl:Class HP:0500139 biolink:NamedThing Hypoprolinemia A decreased amount of proline in the blood. hp0009lx5z Decreased blood proline levels|Low blood proline concentration 2018-10-03 19:35:50+00:00 owl:Class HP:0010604 biolink:NamedThing Cyst of the eyelid hp0009lx5z Lesion of the eyelid|Eyelid bump|Eyelid mass|Cyst of the eyelid sandra1 2009-10-27T10:57:50Z SNOMEDCT_US:46210008|UMLS:C0424844|SNOMEDCT_US:248514008|SNOMEDCT_US:301913002|UMLS:C0155218|UMLS:C0578590 human_phenotype owl:Class HP:0002552 biolink:NamedThing Trichodysplasia Developmental dysplasia of the hair. hp0009lx5z Generalised trichodysplasia|Generalized trichodysplasia HP:0004515 UMLS:C4020850|UMLS:C4025700 owl:Class HP:4000017 biolink:NamedThing Anti-desmoplakin I antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1. hp0009lx5z 2021-05-02 14:26:23+00:00 robinp owl:Class HP:0003779 biolink:NamedThing Antegonial notching of mandible hp0009lx5z Large antegonial notch of mandible|Deep antegonial notch of mandible UMLS:C1844509 human_phenotype owl:Class HP:0032270 biolink:NamedThing Optic nerve tram-track sign A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common. hp0009lx5z 2019-01-27 20:29:14+00:00 peter owl:Class HP:0012313 biolink:NamedThing Heberden's node Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. hp0009lx5z Heberden's nodes are nodular deformities at the distal interphalangeal joint of the fingers (usually the middle and index) and are commonly seen in the elderly. The deformity is created by osteophyte formation and synovial thickening at the margin ofan osteoarthritic joint. Significant functional problems are rarely encountered though patients may suffer with stiffness and pain. Surgical intervention is seldom indicated unless there is severe pain or instability. In such cases, a joint fusion may be appropriate. peter 2013-08-10T12:19:59Z SNOMEDCT_US:371598009|UMLS:C0018862 human_phenotype owl:Class HP:0010470 biolink:NamedThing Supernumerary testes The presence of more than two testes. hp0009lx5z Extra testes|Polyorchidism peter 2009-09-15T09:34:18Z UMLS:C0266430|SNOMEDCT_US:17471001 human_phenotype owl:Class HP:0032002 biolink:NamedThing Orange urine An abnormal orange color of urine. hp0009lx5z 2018-07-15 21:59:12+00:00 peter owl:Class HP:0011770 biolink:NamedThing Tertiary hyperparathyroidism A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism. hp0009lx5z peter 2012-04-22T04:38:20Z UMLS:C0271858|SNOMEDCT_US:78200003 human_phenotype owl:Class HP:0045004 biolink:NamedThing Abnormal ossification of the trapezoid bone hp0009lx5z HPO:skoehler UMLS:C4022406 owl:Class HP:0000879 biolink:NamedThing Short sternum Decreased inferosuperior length of the sternum. hp0009lx5z Short sternum|Hypoplastic sternum UMLS:C0575497|SNOMEDCT_US:298724002|UMLS:C4020883 human_phenotype owl:Class HP:0030585 biolink:NamedThing Red desaturation hp0009lx5z UMLS:C4073058 owl:Class HP:0030584 biolink:NamedThing Color vision test abnormality hp0009lx5z Colour vision test abnormality UMLS:C4073057 owl:Class HP:0033758 biolink:NamedThing Labial abscess A circumscribed area of pus or necrotic debris in the labia. hp0009lx5z Abscess of the labia 2021-04-28 13:04:02+00:00 peter owl:Class HP:0033587 biolink:NamedThing Vulvar abscess A circumscribed area of pus or necrotic debris in the vulvar region. hp0009lx5z 2021-01-27 21:11:53+00:00 peter owl:Class HP:0031474 biolink:NamedThing Pulmonary chondroma A benign cartilaginous tumors of the lung. hp0009lx5z 2017-09-17 16:50:53+00:00 peter owl:Class HP:0000883 biolink:NamedThing Thin ribs Ribs with a reduced diameter. hp0009lx5z Slender ribs|Thin ribs SNOMEDCT_US:249697003|UMLS:C0426818 human_phenotype owl:Class HP:0002990 biolink:NamedThing Fibular aplasia Absence of the fibula. hp0009lx5z Absent-hypoplastic fibulae|Absent calf bone|Absent fibulae HP:0006373 MEDDRA:10054882|UMLS:C1836186 human_phenotype owl:Class HP:0000549 biolink:NamedThing Abnormal conjugate eye movement Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. hp0009lx5z Disconjugate eye movements UMLS:C1845274 human_phenotype owl:Class HP:0100711 biolink:NamedThing Abnormal thoracic spine morphology An abnormality of the thoracic vertebral column. hp0009lx5z Abnormality of the thoracic spine doelkens 2011-05-05T09:37:17Z UMLS:C4021989 owl:Class HP:0033407 biolink:NamedThing Elevated urine acetoacetic acid level Elevated amount of acetoacetic acid in the urine. hp0009lx5z 2021-01-09 15:59:52+00:00 peter owl:Class HP:0002919 biolink:NamedThing Ketonuria High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. hp0009lx5z Ketonaciduria|Ketone bodies in urine|Acetonuria|Ketoaciduria Acetone is the main component of the ketone bodies. SNOMEDCT_US:36815008|MSH:D007662|SNOMEDCT_US:274783007|UMLS:C0162275 owl:Class HP:0004976 biolink:NamedThing Knee dislocation hp0009lx5z Knee dislocations|Dislocations of the knees HP:0006469 SNOMEDCT_US:58320001|UMLS:C0159970|MSH:D031221 human_phenotype owl:Class HP:0030418 biolink:NamedThing Vulvar melanoma A type of vulvar cancer that originates from melanocytes of the vulva. hp0009lx5z The first symptoms typically noticed by the patients are bleeding, pruritus, or a mass in the groin. Vulvar melanomas are mostly located at the labia minora. UMLS:C0241989|SNOMEDCT_US:254896002 owl:Class HP:0000341 biolink:NamedThing Narrow forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). hp0009lx5z Narrow bitemporal diameter|Bitemporal narrowing|Narrow forehead|Decreased width of the forehead|Bitemporal skull narrowing|Temporal narrowness|Bitemporal narrowness|Intertemporal narrowing|Narrow bitemporal width A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. HP:0000314|HP:0004674|HP:0004677 UMLS:C1839758 human_phenotype owl:Class HP:0100228 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 5th toe hp0009lx5z Fragmentation of the end part of the innermost bone of the pinkie toe|Fragmentation of the end part of the innermost bone of the little toe|Fragmentation of the end part of the innermost bone of the pinky toe doelkens 2010-06-24T05:04:53Z UMLS:C4022193 human_phenotype owl:Class HP:0010083 biolink:NamedThing Triangular shaped distal phalanx of the hallux hp0009lx5z Triangular shaped outermost bone of the big toe doelkens 2009-05-29T12:16:28Z UMLS:C4024062 human_phenotype owl:Class HP:0030110 biolink:NamedThing Absent muscle fiber delta sarcoglycan Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. hp0009lx5z Absent muscle fibre delta sarcoglycan UMLS:C4022635 owl:Class HP:0030105 biolink:NamedThing Abnormal muscle fiber delta sarcoglycan Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. hp0009lx5z Abnormal muscle fibre delta sarcoglycan UMLS:C4022640 owl:Class HP:0100134 biolink:NamedThing Abnormality of the axillary hair Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty. hp0009lx5z doelkens 2010-06-24T10:17:00Z UMLS:C4022287 owl:Class HP:0007820 biolink:NamedThing Lacrimal punctal atresia Congenital absence or closure of the opening of the lacrimal punctum. hp0009lx5z Atretic lacrimal punctum|Atretic lacrimal puncta UMLS:C1863201 human_phenotype owl:Class HP:0007500 biolink:NamedThing Decreased number of sweat glands The presence of fewer than normal sweat glands. hp0009lx5z Decreased sweat pores|Decreased sweat glands HP:0007555|HP:0007594 UMLS:C4021574 human_phenotype owl:Class HP:0005964 biolink:NamedThing Intermittent hypothermia Episodes of reduced body termperature. hp0009lx5z Intermittent abnormally low body temperature|Intermittent hypothermia HP:0005970 UMLS:C1837639 owl:Class HP:0002045 biolink:NamedThing Hypothermia Reduced body temperature due to failed thermoregulation. hp0009lx5z Abnormally low body temperature|Hypothermia A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F). MSH:D007035|UMLS:C0020672|SNOMEDCT_US:386689009 owl:Class HP:0011236 biolink:NamedThing Angulated antihelix Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc. hp0009lx5z peter 2011-12-18T10:42:17Z UMLS:C4023446 human_phenotype owl:Class HP:0010473 biolink:NamedThing Porphyrinuria Abnormally increased excretion of porphyrins in the urine. hp0009lx5z Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme. peter 2009-09-15T09:57:34Z UMLS:C0151861|SNOMEDCT_US:44574006 owl:Class HP:0410050 biolink:NamedThing Decreased level of 1,5 anhydroglucitol in serum A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues. hp0009lx5z Decreased level of 1,5-anhydroglucitol in serum|Decreased level of 1,5-AG in serum|Decreased level of 1,5-anhydro-D-glucitol in serum 2018-01-27 00:26:24+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0032496 biolink:NamedThing Elevated terminal:vellus ratio An increased proportion of terminal hairs compared to vellus hairs. hp0009lx5z 2019-04-12 11:35:40+00:00 A terminal:vellus ratio over 7:1 is characteristic of chronic telogen effluvium. peter owl:Class HP:0000376 biolink:NamedThing Incomplete partition of the cochlea type II IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. hp0009lx5z Mondini malformation UMLS:C4025857|UMLS:C1857078 human_phenotype owl:Class HP:0004416 biolink:NamedThing Precocious atherosclerosis hp0009lx5z Premature plaque build-up in arteries|Premature atherosclerosis peter 2008-03-18T09:28:00Z UMLS:C4021654|UMLS:C4280264 human_phenotype owl:Class HP:4000021 biolink:NamedThing Anti-laminin 332 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332. hp0009lx5z Anti-laminin 5 antibody positivity 2021-05-02 14:31:15+00:00 Anti-laminin gamma1 pemphigoid (ALG1P) is an autoimmune subepidermal bullous disease characterized by autoantibodies to a 200-kDa acidic noncollagenous glycoprotein of the lower lamina lucida. In contrast, anti-laminin-332 mucous membrane pemphigoid (MMP) is an autoimmune blistering disease characterized by autoantibodies to various subunits of laminin-332 of the basement membrane. robinp owl:Class HP:0005120 biolink:NamedThing Abnormal cardiac atrium morphology Any structural abnormality of a cardiac atrium. hp0009lx5z Abnormality of heart atrium|Abnormality of cardiac atrium morphology peter 2008-03-26T04:12:00Z UMLS:C4025246 owl:Class HP:0033408 biolink:NamedThing Elevated circulating acetoacetic acid concentration An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies. hp0009lx5z 2021-01-09 16:10:08+00:00 peter owl:Class HP:0410175 biolink:NamedThing Hyperketonemia An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. hp0009lx5z Increased level of ketone bodies in blood|Elevated circulating ketone body concentration|Ketonemia 2018-05-21 17:36:23+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0002797 biolink:NamedThing Osteolysis Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. hp0009lx5z Osteolytic defects of bones|Breakdown of bone|Increased bone resorption Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. HP:0010737 UMLS:C0221204|MSH:D010014|SNOMEDCT_US:30425001|SNOMEDCT_US:203522001 human_phenotype owl:Class HP:0005086 biolink:NamedThing Knee osteoarthritis hp0009lx5z SNOMEDCT_US:239873007|UMLS:C0409959|MSH:D020370 human_phenotype owl:Class HP:0001888 biolink:NamedThing Lymphopenia A reduced number of lymphocytes in the blood. hp0009lx5z Absolute lymphocyte count decrease|Lymphocytopenia|Low lymphocyte number|Decreased blood lymphocyte number SNOMEDCT_US:48813009|UMLS:C0024312|MSH:D008231 human_phenotype owl:Class HP:0000320 biolink:NamedThing Bird-like facies hp0009lx5z Bird-like facial appearance UMLS:C1837758 human_phenotype owl:Class HP:0002955 biolink:NamedThing Granulomatosis A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. hp0009lx5z This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). SNOMEDCT_US:443138004|UMLS:C0521173|SNOMEDCT_US:44328006 human_phenotype owl:Class HP:0006732 biolink:NamedThing Papillary renal cell carcinoma type 2 A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. hp0009lx5z Papillary renal cell carcinoma type 2 is a common feature of hereditary leiomyomatosis and renal cell cancer; HLRCC (OMIM 150800). UMLS:C1336840 human_phenotype owl:Class HP:0010861 biolink:NamedThing Incomplete breech presentation A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal. hp0009lx5z peter 2010-08-03T12:34:57Z MSH:D001946|SNOMEDCT_US:38049006|UMLS:C0426146 human_phenotype owl:Class HP:0001623 biolink:NamedThing Breech presentation A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. hp0009lx5z Feet or buttocks of fetus positioned near opening of uterus|Breech presentation at birth|Feet or buttocks of foetus positioned near opening of uterus SNOMEDCT_US:249101006|SNOMEDCT_US:6096002|UMLS:C0006157|MSH:D001946 human_phenotype owl:Class HP:0009689 biolink:NamedThing Enlarged thumb epiphysis Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms. hp0009lx5z Enlarged end part of thumb long bone|Enlarged epiphyses of the thumb doelkens 2009-01-30T09:20:16Z UMLS:C4021406 human_phenotype owl:Class HP:0000619 biolink:NamedThing Impaired convergence Reduced ability to turn the eyes inward in order to focus on a nearby object. hp0009lx5z Convergence insufficiency Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target. SNOMEDCT_US:194131002|UMLS:C0271379|MSH:D015835 human_phenotype owl:Class HP:0033215 biolink:NamedThing Obliterative abnormality of the renal glomerulus hp0009lx5z 2020-10-24 11:27:37+00:00 Blockage (obliteration) of the capillary lumen by increased extracellular collagenous matrix, with or without hyalinosis or foam cells. peter owl:Class HP:0041215 biolink:NamedThing Fractured fused metatarsal bones 2-4 A partial or complete breakage of the fused metatarsal bones 2-4. hp0009lx5z bone fused metatarsal bones 2-4 owl:Class HP:0009069 biolink:NamedThing Lethal infantile mitochondrial myopathy hp0009lx5z MSH:C564017|UMLS:C1838876 human_phenotype owl:Class HP:0003737 biolink:NamedThing Mitochondrial myopathy A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. hp0009lx5z This is a bundled term that should not be used for future annotations. HP:0008960 MSH:D017240|UMLS:C0162670|SNOMEDCT_US:16851005 human_phenotype owl:Class HP:0030640 biolink:NamedThing Complete congenital stationary night blindness hp0009lx5z UMLS:C4048798 owl:Class HP:0040099 biolink:NamedThing Abnormality of the round window hp0009lx5z HPO:skoehler UMLS:C4022441 owl:Class HP:0032791 biolink:NamedThing Focal impaired awareness cognitive seizure with anomia A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0001024 biolink:NamedThing Skin dimple over apex of long bone angulation hp0009lx5z UMLS:C1855815 human_phenotype owl:Class HP:0031526 biolink:NamedThing Subretinal fluid Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane. hp0009lx5z Sub-retinal fluid 2017-09-24 00:47:09+00:00 peter owl:Class HP:0001962 biolink:NamedThing Palpitations A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. hp0009lx5z Heart palpitations|Missed heart beat|Palpitations|Skipped heart beat HP:0001676 UMLS:C0030252|SNOMEDCT_US:80313002 human_phenotype owl:Class HP:0000387 biolink:NamedThing Absent earlobe Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. hp0009lx5z Absent ear lobes|Earlobe, absent|Lobeless ears|Absent earlobe UMLS:C1849364 human_phenotype owl:Class HP:0011784 biolink:NamedThing Thyrotoxicosis with diffuse goiter hp0009lx5z Thyrotoxicosis with diffuse goitre peter 2012-04-22T06:11:09Z SNOMEDCT_US:267374005|UMLS:C0342122 human_phenotype owl:Class HP:0008554 biolink:NamedThing Cochlear malformation The presence of a malformed cochlea. hp0009lx5z A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two. UMLS:C1862050 human_phenotype owl:Class HP:0007239 biolink:NamedThing Congenital encephalopathy hp0009lx5z UMLS:C4024917 human_phenotype owl:Class HP:0041088 biolink:NamedThing Avulsion fractured humerus A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma. hp0009lx5z owl:Class HP:0033361 biolink:NamedThing Nasal ulcer An open sore of the nasal mucosa. hp0009lx5z 2020-12-02 21:00:12+00:00 Nasal ulcers may occur due exogenous factors, such as trauma, pressure or inhalation of metals dust or aerosol. Nasal ulcers may also be a sign of an underlying disease, for example malignancies, infections (tuberculosis, leprosy, leishmaniasis), vasculitis (Wegener's granulomatosis, Churg-Strauss syndrome) or systemic lupus erythematosus. peter owl:Class HP:0100199 biolink:NamedThing Small epiphysis of the proximal phalanx of the 4th toe hp0009lx5z Small end part of the innermost bone of the 4th toe doelkens 2010-06-24T04:54:59Z UMLS:C4022222 human_phenotype owl:Class HP:0030218 biolink:NamedThing Punding Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects. hp0009lx5z UMLS:C1963933 owl:Class HP:0032546 biolink:NamedThing Abdominal guarding A voluntary contraction of the abdominal wall musculature to avoid pain. hp0009lx5z 2019-06-12 10:33:12+00:00 Abdominal guarding tends to be generalized over the entire abdomen. In contrast to abdominal rigidity, guarding can often be overcome by having the patient purposely relax the muscles; rigidity cannot be. peter owl:Class HP:0010223 biolink:NamedThing Pseudoepiphysis of the 3rd metacarpal The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. hp0009lx5z doelkens 2009-07-02T04:10:52Z UMLS:C4023961 human_phenotype owl:Class HP:0003068 biolink:NamedThing Madelung-like forearm deformities hp0009lx5z UMLS:C1851419 human_phenotype owl:Class HP:0012567 biolink:NamedThing Premature epimetaphyseal fusion in ulna Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. hp0009lx5z peter 2014-01-04T02:10:05Z UMLS:C4022840 human_phenotype owl:Class HP:0033537 biolink:NamedThing Mosaic pulmonary attenuation pattern Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging. hp0009lx5z 2021-01-15 15:29:22+00:00 Mosaic attenuation may result from occlusive vascular disease, obstructive small airways disease, pulmonary edema or pulmonary hemorrhage. peter owl:Class HP:0200048 biolink:NamedThing Cyanotic episode hp0009lx5z sebastiankohler 2011-02-02T02:03:18Z SNOMEDCT_US:301795004|UMLS:C0578475 human_phenotype owl:Class HP:0012366 biolink:NamedThing Basilar invagination Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). hp0009lx5z peter 2013-10-13T12:18:53Z UMLS:C3887851 owl:Class HP:0032903 biolink:NamedThing Focal vocal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. hp0009lx5z peter owl:Class HP:4000016 biolink:NamedThing Anti-periplakin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin. hp0009lx5z 2021-05-02 14:25:13+00:00 robinp owl:Class HP:0031478 biolink:NamedThing Abnormal mitral valve annulus morphology Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. hp0009lx5z 2017-09-17 22:28:08+00:00 peter owl:Class HP:0020180 biolink:NamedThing Elevated haptoglobin level An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation. hp0009lx5z robinp 2019-07-11 20:30:03+00:00 owl:Class HP:0012487 biolink:NamedThing Cerebellopontine angle arachnoid cyst An arachnoid cyst located at the margin of the cerebellum and pons. hp0009lx5z The cerebellopontine angle is in the posterior fossa. peter 2013-11-29T09:03:39Z UMLS:C4022884 owl:Class HP:0003392 biolink:NamedThing First dorsal interossei muscle weakness hp0009lx5z UMLS:C1832277 human_phenotype owl:Class HP:0012283 biolink:NamedThing Small distal femoral epiphysis Reduced size of the Distal epiphysis of femur. hp0009lx5z Small end part of outermost thighbone peter 2013-04-09T07:33:19Z UMLS:C4022970 human_phenotype owl:Class HP:0010280 biolink:NamedThing Stomatitis Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. hp0009lx5z Inflammation of the mouth|Gingivostomatitis peter 2009-07-12T09:48:56Z MSH:D013280|SNOMEDCT_US:61170000|UMLS:C0038362|UMLS:C0149704|SNOMEDCT_US:20607006 human_phenotype owl:Class HP:0033023 biolink:NamedThing Chronic absent circulating IgE A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured. hp0009lx5z Chronic (near) absent IgE in blood peter owl:Class HP:0005479 biolink:NamedThing Decreased circulating IgE An abnormally decreased level of immunoglobulin E (IgE) in blood. hp0009lx5z Decreased IgE|IgE deficiency peter 2008-03-26T08:03:00Z HP:0002854 UMLS:C0860904 human_phenotype owl:Class HP:0005890 biolink:NamedThing Hyperostosis cranialis interna Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. hp0009lx5z Overgrowth of the inner surface of the skull bones|Overgrowth of the inside of the skull|Increased ossification of the internal surface of the cranial bones|Hypertrophy of the internal surface of the cranial bones|Thick internal surface of the cranial bones|Excessive growth of inner surface of the skull bones|Hyperostosis of the internal surface of the cranial bone|Enlargement of the inner surface of the skull bones|Thick inner surface of the skull bones|Hyperostosis of the internal surface of the cranial bones UMLS:C1840404|UMLS:C4280469|UMLS:C4280472|MSH:C564168|UMLS:C4280468|UMLS:C4280470|UMLS:C4280471 human_phenotype owl:Class HP:0033771 biolink:NamedThing Pleuritic chest pain Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling. hp0009lx5z 2021-05-01 15:26:18+00:00 peter owl:Class HP:0010964 biolink:NamedThing Abnormal circulating long-chain fatty-acid concentration Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation. hp0009lx5z A long-chain fatty-acid is defined as an aliphatic monocarboxylic acid with a chain length of C13 to C18. peter 2011-01-27T08:05:00Z UMLS:C4023624 owl:Class HP:0012157 biolink:NamedThing Subcortical cerebral atrophy Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. hp0009lx5z peter 2013-01-20T11:22:50Z UMLS:C4023018 human_phenotype owl:Class HP:0031368 biolink:NamedThing Intestinal perforation A hole (perforation) in the wall of the intestine. hp0009lx5z 2017-09-02 01:23:22+00:00 peter owl:Class HP:3000016 biolink:NamedThing Abnormality of styloglossus muscle An abnormality of the styloglossus muscle. hp0009lx5z vasilevs 2015-02-26T03:58:56Z UMLS:C4073225 human_phenotype owl:Class HP:0012391 biolink:NamedThing Hyporeflexia of upper limbs Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. hp0009lx5z peter 2013-11-07T07:42:49Z UMLS:C1836835 human_phenotype owl:Class HP:0001265 biolink:NamedThing Hyporeflexia Reduction of neurologic reflexes such as the knee-jerk reaction. hp0009lx5z Decreased reflexes|Decreased reflex response HP:0002467 UMLS:C0700078|SNOMEDCT_US:405946002 human_phenotype owl:Class HP:0001904 biolink:NamedThing Neutropenia in presence of anti-neutropil antibodies A type of neutropenia that is observed in the presence of granulocyte-specific antibodies. hp0009lx5z Autoimmune neutropenia The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction. SNOMEDCT_US:234425008|UMLS:C0340971 human_phenotype owl:Class HP:0033783 biolink:NamedThing Molar incisor malformation Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars. hp0009lx5z 2021-05-07 10:32:47+00:00 MIM affects one or more roots of deciduous second molars and permanent first molars. Permanent maxillary central incisors may also be affected. The diagnosis requires clinical and radiographic examinations. peter owl:Class HP:0410323 biolink:NamedThing Drug allergy Hypersensitivity in form of an adverse immune reaction against drugs. hp0009lx5z Drug allergy|IgE-mediated drug allergy|Immunoglobulin E-mediated drug allergy|Allergy to drugs owl:Class HP:0031660 biolink:NamedThing Loud first heart sound Abnormally increased volume of the first heart sound. hp0009lx5z 2017-12-17 16:05:06+00:00 S1 may be loud in early phases of rheumatic mitral stenosis. peter owl:Class HP:0007000 biolink:NamedThing Morning myoclonic jerks hp0009lx5z UMLS:C1847164 human_phenotype owl:Class HP:0000338 biolink:NamedThing Hypomimic face A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. hp0009lx5z Decreased facial expressions|Decreased facial muscle movement|Hypomimia|Dull facial expression The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal. HP:0008769 SNOMEDCT_US:248149005|UMLS:C0813217|UMLS:C4280635|UMLS:C1862474 human_phenotype owl:Class HP:0010043 biolink:NamedThing Aplasia of the 4th metacarpal Absence of the fourth long bone of the hand. hp0009lx5z Absent 4th long bone of hand doelkens 2009-05-27T04:37:00Z UMLS:C4024086 human_phenotype owl:Class HP:0010042 biolink:NamedThing Aplasia/Hypoplasia of the 4th metacarpal Aplasia or Hypoplasia affecting the 4th metacarpal. hp0009lx5z Absent/underdeveloped 4th long bone of hand|Absent/small 4th long bone of hand doelkens 2009-05-27T04:36:49Z UMLS:C4024087 human_phenotype owl:Class HP:0008742 biolink:NamedThing Prominent prostate median bar hp0009lx5z UMLS:C4024629 human_phenotype owl:Class HP:0100166 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe. hp0009lx5z Speckled calcifications in of the end part of the innermost bone of the 3rd toe doelkens 2010-06-24T10:24:45Z UMLS:C4022255 human_phenotype owl:Class HP:0010862 biolink:NamedThing Delayed fine motor development A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. hp0009lx5z peter 2010-08-03T05:44:08Z UMLS:C4023681 human_phenotype owl:Class HP:0001270 biolink:NamedThing Motor delay A type of Developmental delay characterized by a delay in acquiring motor skills. hp0009lx5z Motor developmental milestones not achieved|No development of motor milestones|Delayed motor milestones|Retarded motor development|Delayed motor development|Delayed early motor milestones|Locomotor delay|Motor developmental delay|Delay in motor development|Motor retardation HP:0007219|HP:0007251|HP:0006788|HP:0001307|HP:0006909|HP:0006826|HP:0002130|HP:0006968|HP:0006950 UMLS:C4020874|UMLS:C1854301 human_phenotype owl:Class HP:0040197 biolink:NamedThing Encephalomalacia Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. hp0009lx5z Cerebral softening PhenoTips:CHum SNOMEDCT_US:58762006|MSH:D004678|UMLS:C0014068 owl:Class HP:0025459 biolink:NamedThing Increased CSF/serum albumin ratio An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. hp0009lx5z 2017-05-05 10:50:18+00:00 HPO:probinson owl:Class HP:0030750 biolink:NamedThing Grade III preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles. hp0009lx5z Grade III preterm intraventricular haemorrhage UMLS:C4280787 owl:Class HP:0005894 biolink:NamedThing Double first metacarpals Duplication of the metacarpal I bones. hp0009lx5z Double 1st long bones of hand UMLS:C4025112 human_phenotype owl:Class HP:0033315 biolink:NamedThing Visceral epithelial hyaline droplets Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. hp0009lx5z 2020-11-29 13:22:46+00:00 peter owl:Class HP:0033238 biolink:NamedThing Podocyte microvillous transformation Cytoplasmic projections into the urinary space from the luminal side of the podocyte. hp0009lx5z 2020-11-01 12:39:45+00:00 peter owl:Class HP:0004629 biolink:NamedThing Small cervical vertebral bodies Reduced size of cervical vertebrae. hp0009lx5z Small cervical vertebrae HP:0008429 UMLS:C1851130 human_phenotype owl:Class HP:0008479 biolink:NamedThing Hypoplastic vertebral bodies hp0009lx5z Small vertebrae|Small vertebral bodies|Underdeveloped back bones HP:0002773 UMLS:C1863353 human_phenotype owl:Class HP:0002286 biolink:NamedThing Fair hair A lesser degree of hair pigmentation than would otherwise be expected. hp0009lx5z Straw coloured hair|Flaxen hair colour|Fair hair colour|Flaxen hair color|Towhead (hair color)|Sandy hair color|Sandy hair colour|Fair hair color|Light colored hair|Blond hair|Light coloured hair|Straw colored hair|Fair hair For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives. HP:0002214|HP:0002294 UMLS:C0239801|SNOMEDCT_US:297995004|UMLS:C1849221 human_phenotype owl:Class HP:0410075 biolink:NamedThing Increased level of xylitol in CSF An increase in the level of xylitol in the cerebrospinal fluid. hp0009lx5z Increased level of xylitol in cerebrospinal fluid 2018-01-30 00:50:08+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0032289 biolink:NamedThing Oligoclonal elevation of circulating IgG An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp0009lx5z 2019-02-12 22:23:04+00:00 peter owl:Class HP:0002891 biolink:NamedThing Uterine leiomyosarcoma The presence of a leiomyosarcoma of the uterus. hp0009lx5z Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH]. UMLS:C0280631|SNOMEDCT_US:447389009|NCIT:C3158 human_phenotype owl:Class HP:0002780 biolink:NamedThing Bronchomalacia Weakness or softness of the cartilage in the walls of the bronchial tubes. hp0009lx5z SNOMEDCT_US:54203008|UMLS:C0264353|MSH:D055091 human_phenotype owl:Class HP:0005539 biolink:NamedThing T cell chronic lymphocytic lymphoma/leukemia A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent. hp0009lx5z UMLS:C4025181 human_phenotype owl:Class HP:0041228 biolink:NamedThing Fractured distal tarsal bone 3 A partial or complete breakage of the distal tarsal bone 3. hp0009lx5z bone distal tarsal bone 3 owl:Class HP:0041226 biolink:NamedThing Fractured distal tarsal bone A partial or complete breakage of the distal tarsal bone. hp0009lx5z bone distal tarsal bone owl:Class HP:0500159 biolink:NamedThing Increased level of circulating aspartic acid An increased amount of aspartic acid in the blood. hp0009lx5z High blood aspartic acid levels|Increased blood aspartic acid 2018-10-05 15:38:23+00:00 owl:Class HP:0500158 biolink:NamedThing Abnormal circulating aspartic acid concentration Any deviation from the normal concentration of aspartate in the blood circulation. hp0009lx5z Abnormal circulating aspartate concentration 2018-10-05 15:26:40+00:00 Aspartate is classified as an acidic amino acid. owl:Class HP:0001102 biolink:NamedThing Angioid streaks of the fundus Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic. hp0009lx5z Angioid streaks of the retina|Laquer cracks of the retina|Angioid streaks|Angioid streaks, retina|Knapp streaks Angioid streaks result from breaks in a weakened Bruch's membrane. UMLS:C0002982|MSH:D000793 owl:Class HP:0031881 biolink:NamedThing Decreased tear drainage A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct. hp0009lx5z 2018-05-06 15:54:22+00:00 peter owl:Class HP:0009926 biolink:NamedThing Epiphora Abnormally increased lacrimation, that is, excessive tearing (watering eye). hp0009lx5z Watery eyes|Increased tears|Tearing|Increased lacrimation Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system. peter 2009-05-02T10:52:28Z HP:0001486 UMLS:C0152227|SNOMEDCT_US:418035005|SNOMEDCT_US:193982009|MSH:D007766 human_phenotype owl:Class HP:0410016 biolink:NamedThing Abnormality of cranial ganglion An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium. hp0009lx5z UMLS:C4073195 owl:Class HP:0410014 biolink:NamedThing Abnormality of ganglion An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system. hp0009lx5z UMLS:C4073193 owl:Class HP:5000028 biolink:NamedThing Anti-MAP1B antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B). hp0009lx5z Anti-Purkinje cell cytoplasmic type-2 antibody|Anti-microtubule-associated protein 1B antibody ORCID:0000-0002-3387-1836 owl:Class HP:0030286 biolink:NamedThing Atrophic superior cerebellar peduncle Atrophy of the superior cerebellar peduncle. hp0009lx5z UMLS:C4022535 owl:Class HP:0010553 biolink:NamedThing Oculogyric crisis An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. hp0009lx5z peter 2009-10-01T08:56:39Z SNOMEDCT_US:5332004|UMLS:C0085637 human_phenotype owl:Class HP:0003469 biolink:NamedThing Peripheral dysmyelination Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. hp0009lx5z UMLS:C4025610 human_phenotype owl:Class HP:0025276 biolink:NamedThing Abnormality of skin adnexa physiology Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. hp0009lx5z 2016-12-18 14:51:16+00:00 HPO:probinson owl:Class HP:0033987 biolink:NamedThing Phosphaturic mesenchymal tumor A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites. hp0009lx5z 2021-07-15 12:04:04+00:00 peter owl:Class HP:0020037 biolink:NamedThing Astasia A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. hp0009lx5z 2017-10-13 12:38:30+00:00 robinp owl:Class HP:0100499 biolink:NamedThing Tibial deviation of toes hp0009lx5z Medial deviation of toes doelkens 2010-12-17T04:25:59Z UMLS:C3806533 human_phenotype owl:Class HP:0010070 biolink:NamedThing Curved 1st metatarsal A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone. hp0009lx5z Curved 1st long bone of foot doelkens 2009-05-29T12:13:57Z UMLS:C4024074 human_phenotype owl:Class HP:0012461 biolink:NamedThing Bacteriuria The presence of bacteria in the urine. hp0009lx5z High urine bacteria|Bacteria in urine The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection. peter 2013-11-24T12:15:47Z SNOMEDCT_US:61373006|UMLS:C0004659|MSH:D001437 human_phenotype owl:Class HP:0032818 biolink:NamedThing Neonatal focal clonic seizure Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups. hp0009lx5z peter owl:Class HP:0032753 biolink:NamedThing Focal impaired awareness emotional seizure with agitation A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0031682 biolink:NamedThing Type V atherosclerotic lesion Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant. hp0009lx5z 2017-12-17 17:38:22+00:00 peter owl:Class HP:0002971 biolink:NamedThing Absent microvilli on the surface of peripheral blood lymphocytes Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes. hp0009lx5z UMLS:C1833173 human_phenotype owl:Class HP:0003882 biolink:NamedThing Slender humerus Reduction in diameter of the humerus. hp0009lx5z Slender long bone of upper arm UMLS:C4021851 human_phenotype owl:Class HP:0005767 biolink:NamedThing 1-2 toe complete cutaneous syndactyly hp0009lx5z UMLS:C4025140 owl:Class HP:0011291 biolink:NamedThing EEG with central sharp slow waves EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. hp0009lx5z peter 2012-02-11T12:31:02Z UMLS:C4023425 human_phenotype owl:Class HP:0031101 biolink:NamedThing Abnormal circulating antimullerian hormone concentration Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. hp0009lx5z Abnormal antimullerian hormone level 2017-05-30 02:34:22+00:00 peter owl:Class HP:0012286 biolink:NamedThing Abnormal hypothalamus morphology Any structural anomaly of the hypothalamus. hp0009lx5z Abnormality of the hypothalamus|Abnormal shape of hypothalamus|Abnormality of hypothalamus morphology The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. It is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. peter 2013-04-09T07:53:16Z HP:0002443 UMLS:C4021095 human_phenotype owl:Class HP:0011782 biolink:NamedThing Thyroid crisis hp0009lx5z peter 2012-04-22T06:10:37Z UMLS:C0040127|MSH:D013958|SNOMEDCT_US:29028009 human_phenotype owl:Class HP:0032858 biolink:NamedThing Focal impaired awareness motor seizure with negative myoclonus A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure. hp0009lx5z Focal motor impaired awareness seizure with negative myoclonus peter owl:Class HP:0012540 biolink:NamedThing Axillary epidermoid cyst An epidermoid cyst in the armpit. hp0009lx5z Armpit cyst peter 2013-12-15T10:35:39Z UMLS:C4022859 human_phenotype owl:Class HP:0200040 biolink:NamedThing Epidermoid cyst Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. hp0009lx5z Epidermal cyst|Keratin cyst|Infundibular cyst|Epidermoid cysts|Epidermal inclusion cyst|Skin cyst|Sebaceous cyst A cyst is a cavity containing liquid, semisolid, or solid material. An epidermoid cyst is a benign cyst that develops out of ectodermal tissue and consists of a thin layer of squamous epithelium. An epidermal cyst may or may not be painful or release pus, and are usually noticed as a bump on the skin. Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. sebastiankohler 2010-06-18T02:08:02Z SNOMEDCT_US:419893006|UMLS:C0014511|SNOMEDCT_US:419603000|SNOMEDCT_US:417992006|SNOMEDCT_US:418630001|SNOMEDCT_US:419670003|SNOMEDCT_US:399999000|MSH:D004814|SNOMEDCT_US:418323001 human_phenotype owl:Class HP:0012333 biolink:NamedThing Abnormal sudomotor regulation An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration. hp0009lx5z Sudomotor sympathetic dysfunction Normally, the cholinergic innervation via the sympathetic nervous system activates muscarinic acetylcholine receptors in sweat glands, thereby leading to perspiration. This terms refers to an abnormally increased or decreased activity of this system. peter 2013-09-13T08:04:38Z UMLS:C4021092 human_phenotype owl:Class HP:0002314 biolink:NamedThing Degeneration of the lateral corticospinal tracts Deterioration of the tissues of the lateral corticospinal tracts. hp0009lx5z Degeneration of lateral corticospinal tracts HP:0007254 UMLS:C1846566 human_phenotype owl:Class HP:0007372 biolink:NamedThing Atrophy/Degeneration involving the corticospinal tracts hp0009lx5z peter 2008-04-01T10:38:00Z UMLS:C4024897 human_phenotype owl:Class HP:0009963 biolink:NamedThing Duplication of the middle phalanx of the 3rd finger Partial or complete duplication of the middle phalanx of middle finger. hp0009lx5z Partial/complete duplication of the middle phalanx of the 3rd finger|Duplication of the middle bone of the middle finger doelkens 2009-05-26T12:46:36Z HP:0004157|HP:0004174 UMLS:C4021362 human_phenotype owl:Class HP:0030996 biolink:NamedThing Megaduodenum Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum. hp0009lx5z 2017-05-13 14:10:04+00:00 Megaduodenum may present with a feeling of gastric fullness, epigastric pain, belching, heartburn, and nausea with vomiting. peter owl:Class HP:0001166 biolink:NamedThing Arachnodactyly Abnormally long and slender fingers ("spider fingers"). hp0009lx5z Long, slender fingers|Long slender fingers|Spider fingers HP:0001505 SNOMEDCT_US:62250003|MSH:D054119|UMLS:C0003706 human_phenotype owl:Class HP:0002074 biolink:NamedThing Increased neuronal autofluorescent lipopigment Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. hp0009lx5z Neuronal lipopigments UMLS:C4025728|UMLS:C4020857 human_phenotype owl:Class HP:0011813 biolink:NamedThing Increased cerebral lipofuscin Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. hp0009lx5z peter 2012-04-28T03:17:57Z UMLS:C4023177 human_phenotype owl:Class HP:0045011 biolink:NamedThing Decreased urine bicarbonate concentration Abnormally decreased concentration of hydrogencarbonate in the urine. hp0009lx5z Decreased urine HCO3 concentration HPO:skoehler UMLS:C4022399 owl:Class HP:0011279 biolink:NamedThing Abnormality of urine bicarbonate concentration An abnormality of the concentration of hydrogencarbonate in the urine. hp0009lx5z Abnormality of urine HCO3 concentration peter 2011-12-30T02:57:55Z UMLS:C4023435 human_phenotype owl:Class HP:0033149 biolink:NamedThing Intrahepatic bile duct dilatation Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). hp0009lx5z Dilatation of intrahepatic biliary ducts 2020-09-19 12:51:16+00:00 peter owl:Class HP:0040014 biolink:NamedThing Increased mitochondrial number hp0009lx5z HPO:skoehler UMLS:C4022492 owl:Class HP:0007620 biolink:NamedThing Cutaneous leiomyoma The presence of leiomyoma of the skin. hp0009lx5z Cutaneous leiomyomata|Cutaneous leiomyomas Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin. HP:0007507 NCIT:C3157|SNOMEDCT_US:254767008|UMLS:C0346064 human_phenotype owl:Class HP:0005600 biolink:NamedThing Congenital giant melanocytic nevus The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. hp0009lx5z Giant pigmented mole|Giant pigmented nevus|Giant pigmented hairy nevus Between 4% and 6% of these lesions will develop into a malignant melanoma. HP:0005604 MSH:C536819|UMLS:C1842036|SNOMEDCT_US:254815002|SNOMEDCT_US:10291008 human_phenotype owl:Class HP:0030568 biolink:NamedThing Best corrected visual acuity 3.0 LogMAR hp0009lx5z UMLS:C4073041 owl:Class HP:0002068 biolink:NamedThing Neuromuscular dysphagia hp0009lx5z UMLS:C4025729 human_phenotype owl:Class HP:0033180 biolink:NamedThing Torsion of appendix of testis The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention. hp0009lx5z Twisted vestigial remnant of the Muellerian duct 2020-09-28 22:15:53+00:00 peter owl:Class HP:0006965 biolink:NamedThing Acute necrotizing encephalopathy hp0009lx5z UMLS:C1855020 human_phenotype owl:Class HP:0008476 biolink:NamedThing Irregular sclerotic endplates hp0009lx5z irregular, dense end plate HP:0004624 UMLS:C1868554 human_phenotype owl:Class HP:0004433 biolink:NamedThing Secretory IgA deficiency Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. hp0009lx5z peter 2008-03-18T09:48:00Z MSH:C562869|SNOMEDCT_US:234554004|UMLS:C0398709 human_phenotype owl:Class HP:0031867 biolink:NamedThing Neck hypertonia Increased passive stiffness or tightness of the neck musculature. hp0009lx5z 2018-05-05 21:31:34+00:00 peter owl:Class HP:0033403 biolink:NamedThing Testicular ischemia Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain and swelling of the affected testis. hp0009lx5z 2021-01-09 15:21:10+00:00 peter owl:Class HP:0033401 biolink:NamedThing Tissue ischemia Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. hp0009lx5z 2021-01-09 15:02:58+00:00 peter owl:Class HP:0025206 biolink:NamedThing Triggered by cold Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings. hp0009lx5z Cold triggered symptoms|Triggered by cold temperature 2016-12-10 13:44:40+00:00 HPO:probinson owl:Class HP:0031709 biolink:NamedThing Compensatory head tilt to the right shoulder A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement. hp0009lx5z 2017-12-18 00:31:38+00:00 With fourth cranial nerve palsy leading to weakness of the superior oblique muscle, affected persons tilt the head away from the affected eye as both eyes are most straight in this position. peter owl:Class HP:0100412 biolink:NamedThing Complete duplication of the middle phalanx of the 5th toe Complete duplication of the middle phalanx of the 5th toe. hp0009lx5z Complete duplication of the middle phalanx of the fifth toe|Complete duplication of the middle bone of the pinky toe|Complete duplication of the middle bone of the little toe|Complete duplication of the middle bone of the pinkie toe UMLS:C4020985 human_phenotype owl:Class HP:0100403 biolink:NamedThing Duplication of the middle phalanx of the 5th toe Partial or complete duplication of the middle phalanx of the 5th toe. hp0009lx5z Duplication of the middle bone of the pinky toe|Partial/complete duplication of the middle phalanx of the 5th toe|Duplication of the middle phalanx of the fifth toe|Duplication of the middle bone of the little toe|Duplication of the middle bone of the pinkie toe UMLS:C4020994 human_phenotype owl:Class HP:0005041 biolink:NamedThing Irregular capital femoral epiphysis Irregular surface of the normally relatively smooth capital femoral epiphysis. hp0009lx5z Irregular end part of innermost thighbone|Irregular proximal femoral epiphyses|Irregular capital femoral epiphyses HP:0008806 UMLS:C4020825 human_phenotype owl:Class HP:0041212 biolink:NamedThing Fractured proximal phalanx of digit 3 A partial or complete breakage of the proximal phalanx of digit 3. hp0009lx5z bone proximal phalanx of digit 3 owl:Class HP:0033298 biolink:NamedThing Abnormal circulating complement factor H related protein 1 concentration A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1) hp0009lx5z 2020-11-28 21:49:11+00:00 Complement factor H-related protein 1 (CFHR1) is a complement regulator which has been reported to regulate complement by blocking C5 convertase activity and interfering with C5b surface association. CFHR1 also competes with complement factor H (CFH) for binding to C3b, and may act as an antagonist of CFH-directed regulation on cell surfaces. peter owl:Class HP:0033053 biolink:NamedThing Pseudoseizure Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges. hp0009lx5z peter owl:Class HP:0025302 biolink:NamedThing Diurnal Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time. hp0009lx5z 2016-12-20 12:31:12+00:00 HPO:probinson owl:Class HP:0012069 biolink:NamedThing Keratan sulfate excretion in urine An increased concentration of keratan sulfate in the urine. hp0009lx5z Keratan sulphate excretion in urine Keratan sulfate is a a glycosaminoglycan. hecht 2012-08-04T03:20:15Z UMLS:C4023060 human_phenotype owl:Class HP:0008061 biolink:NamedThing Aplasia/Hypoplasia of the retina hp0009lx5z Absent/underdeveloped retina|Absent/small retina peter 2008-04-02T03:30:00Z UMLS:C4024740 human_phenotype owl:Class HP:0001071 biolink:NamedThing Angiokeratoma corporis diffusum hp0009lx5z Fabry syndrome UMLS:C0002986|SNOMEDCT_US:16652001|SNOMEDCT_US:124464003|MSH:D000795 human_phenotype owl:Class HP:0002920 biolink:NamedThing Decreased circulating ACTH level An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. hp0009lx5z UMLS:C4025669 human_phenotype owl:Class HP:0011043 biolink:NamedThing Abnormality of circulating adrenocorticotropin level An abnormal concentration of corticotropin in the blood. hp0009lx5z Abnormality of circulating ACTH level|Abnormality of circulating corticotropin level|Abnormality of circulating adrenocorticotropin level|Abnormality of circulating adrenocorticotropic hormone level Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex. peter 2011-03-10T07:46:59Z UMLS:C4023574 human_phenotype owl:Class HP:0005723 biolink:NamedThing Shoe-shaped sella turcica hp0009lx5z UMLS:C4025147 human_phenotype owl:Class HP:0010305 biolink:NamedThing Absence of the sacrum Absence (aplasia) of the sacrum. hp0009lx5z Sacrococcygeal agenesis|Sacral agenesis|Absent sacrum peter 2009-07-12T01:13:26Z MSH:C537221|UMLS:C0344490|SNOMEDCT_US:205425003 human_phenotype owl:Class HP:0008517 biolink:NamedThing Aplasia/Hypoplasia of the sacrum Aplasia or developmental hypoplasia of the sacral bone. hp0009lx5z Absent/small sacrum|Absent/underdeveloped sacrum peter 2008-04-04T02:32:00Z UMLS:C4024660 human_phenotype owl:Class HP:0006740 biolink:NamedThing Transitional cell carcinoma of the bladder The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell. hp0009lx5z Transitional cell bladder carcinoma NCIT:C2930|SNOMEDCT_US:255109008|UMLS:C0279680 human_phenotype owl:Class HP:0006789 biolink:NamedThing Mitochondrial encephalopathy hp0009lx5z MSH:C538525|UMLS:C1852373 human_phenotype owl:Class HP:0012773 biolink:NamedThing Reduced upper to lower segment ratio Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present. hp0009lx5z A ratio of less than 0.86 (or according to other sources 0.89) is considered abnormally reduced. peter 2014-04-07T03:14:28Z UMLS:C1836996 owl:Class HP:0012772 biolink:NamedThing Abnormal upper to lower segment ratio A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. hp0009lx5z peter 2014-04-07T03:12:56Z UMLS:C4022728 human_phenotype owl:Class HP:0012670 biolink:NamedThing Orthostatic syncope Syncope following a quick change in position from lying down to standing. hp0009lx5z peter 2014-02-15T01:41:57Z UMLS:C0749201 human_phenotype owl:Class HP:0032843 biolink:NamedThing Focal-onset epileptic spasm A type of epileptic spasm of focal onset. hp0009lx5z Focal onset epileptic spasm The degree of awareness during the seizure is rarely known. peter owl:Class HP:0009240 biolink:NamedThing Broad distal phalanx of the 5th finger Increased width of the distal phalanx of the 5th finger. hp0009lx5z Broad outermost pinkie finger bone|Wide outermost pinky finger bone|Broad outermost pinky finger bone|Broad outermost little finger bone doelkens 2009-01-05T07:25:50Z UMLS:C4024506 human_phenotype owl:Class HP:0004761 biolink:NamedThing Post-angioplasty coronary artery restenosis hp0009lx5z UMLS:C2676505 human_phenotype owl:Class HP:0002282 biolink:NamedThing Gray matter heterotopia Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. hp0009lx5z Grey matter heterotopia|Neuronal heterotopia|Gray matter heterotopias|Heterotopia|Heterotopias|Grey matter heterotopias Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used. HP:0007314|HP:0002281 MSH:D002828|SNOMEDCT_US:416286003|SNOMEDCT_US:417338002|UMLS:C0008519|SNOMEDCT_US:128490007 human_phenotype owl:Class HP:0012190 biolink:NamedThing T-cell lymphoma A type of lymphoma that originates in T-cells. hp0009lx5z T cell lymphoma peter 2013-02-27T06:56:11Z MSH:D016399|UMLS:C0079772|SNOMEDCT_US:109978004|SNOMEDCT_US:3172003 owl:Class HP:0008464 biolink:NamedThing Absent spinous processes of lower thoracic and lumbar vertebrae hp0009lx5z UMLS:C4024671 human_phenotype owl:Class HP:0008516 biolink:NamedThing Abnormality of the vertebral spinous processes hp0009lx5z peter 2008-04-04T02:31:00Z UMLS:C4024661 human_phenotype owl:Class HP:0100010 biolink:NamedThing Spinal meningioma hp0009lx5z doelkens 2010-05-14T09:29:27Z UMLS:C0347515|SNOMEDCT_US:189167009|MSH:D008579|NCIT:C3230 human_phenotype owl:Class HP:0005150 biolink:NamedThing Abnormal atrioventricular conduction An impairment of the electrical continuity between the atria and ventricles. hp0009lx5z UMLS:C4025244 human_phenotype owl:Class HP:0011406 biolink:NamedThing Infancy onset short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. hp0009lx5z Short-trunk dwarfism, identifiable in infancy peter 2012-03-15T09:45:48Z HP:0008851 UMLS:C1846061 human_phenotype owl:Class HP:0033588 biolink:NamedThing Labial adhesion Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline. hp0009lx5z Labial agglutination|Synechia vulvae 2021-01-27 21:15:27+00:00 peter owl:Class HP:0010935 biolink:NamedThing Abnormality of the upper urinary tract An abnormality of the upper urinary tract. hp0009lx5z Abnormality of the upper urinary tract The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters. peter 2011-01-16T11:37:29Z UMLS:C4023641 human_phenotype owl:Class HP:0033293 biolink:NamedThing Glomerular hyaline pseudothrombus Intracapillary amorphous, eosinophilic material consisting of immune deposits. hp0009lx5z 2020-11-28 21:29:20+00:00 peter owl:Class HP:0033503 biolink:NamedThing Elevated CSF fumarate An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid. hp0009lx5z 2021-01-10 14:28:36+00:00 peter owl:Class HP:0033283 biolink:NamedThing Segmentally thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. hp0009lx5z 2020-11-28 20:34:43+00:00 peter owl:Class HP:0004795 biolink:NamedThing Hamartomatous stomach polyps Polyp-like protrusions which are histologically hamartomas located in the stomach. hp0009lx5z UMLS:C1862304 human_phenotype owl:Class HP:0009299 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 4th finger hp0009lx5z Absent/underdeveloped middle ring finger bone|Absent/small middle ring finger bone doelkens 2009-01-08T04:27:22Z UMLS:C4024459 human_phenotype owl:Class HP:0003370 biolink:NamedThing Flat capital femoral epiphysis An abnormal flattening of the proximal epiphysis of the femur. hp0009lx5z Flat capital femoral epiphyses|Flat proximal femoral epiphyses|Flattened proximal femoral epiphyses|Flat end part of innermost thighbone|Flat femoral capital epiphyses HP:0006393 UMLS:C1842155 human_phenotype owl:Class HP:0030289 biolink:NamedThing Flattened femoral epiphysis An abnormal flattening of an epiphysis of femur. hp0009lx5z Flattended end part of thigh bone UMLS:C1850642 owl:Class HP:0008591 biolink:NamedThing Congenital conductive hearing impairment A type of conductive deafness with congenital onset. hp0009lx5z Congenital conductive hearing loss|Congenital conductive deafness HP:0008525 UMLS:C4021537 human_phenotype owl:Class HP:0005302 biolink:NamedThing Carotid artery tortuosity Abnormal tortuous (i.e., twisted) form of the carotid arteries. hp0009lx5z Tortuous carotid arteries UMLS:C1303076|SNOMEDCT_US:401051003 human_phenotype owl:Class HP:0033878 biolink:NamedThing Arcuate vein lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. hp0009lx5z Organized thrombi within arcuate vein lumen 2021-06-23 19:31:36+00:00 peter owl:Class HP:0033875 biolink:NamedThing Abnormal arcuate vein lumen morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. hp0009lx5z 2021-06-23 19:25:35+00:00 peter owl:Class HP:0004727 biolink:NamedThing Impaired renal concentrating ability A defect in the ability to concentrate the urine. hp0009lx5z Urine concentrating defect|Urine concentration defect An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation. HP:0005568 UMLS:C1859819 human_phenotype owl:Class HP:0100167 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 3rd toe hp0009lx5z Triangular end part of the innermost bone of the 3rd toe doelkens 2010-06-24T10:24:45Z UMLS:C4022254 human_phenotype owl:Class HP:0006921 biolink:NamedThing Axial muscle stiffness Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. hp0009lx5z UMLS:C4024962 human_phenotype owl:Class HP:0012274 biolink:NamedThing Autosomal dominant inheritance with paternal imprinting A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing. hp0009lx5z Since the paternally inherited copy of such genes is silenced normally, only a maternally transmitted mutation leads to disease in this kind of inheritance. peter 2013-04-07T02:19:07Z UMLS:C4022976 human_phenotype owl:Class HP:0000006 biolink:NamedThing Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. hp0009lx5z Autosomal dominant|Autosomal dominant type|Autosomal dominant form HP:0001455|HP:0001463|HP:0001415|HP:0001447|HP:0001451|HP:0001448|HP:0001456 UMLS:C0443147|SNOMEDCT_US:263681008 human_phenotype owl:Class HP:0003551 biolink:NamedThing Difficulty climbing stairs Reduced ability to climb stairs. hp0009lx5z Difficulty walking up stairs HP:0007019 SNOMEDCT_US:282195009|UMLS:C0239067 owl:Class HP:0100122 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 2nd toe hp0009lx5z Absent end part of the innermost bone of the 2nd toe doelkens 2010-06-24T10:06:29Z UMLS:C4022299 human_phenotype owl:Class HP:0040206 biolink:NamedThing Abnormal circulating neopterin concentration Any deviation from the normal concentration of neopterin in the blood circulation. hp0009lx5z Neopterin can be found to have abnormal level in blood, CSF, or urine. HPO:skoehler UMLS:C4073154 owl:Class HP:0041045 biolink:NamedThing Increased neutrophil mitochondria An increased number of mitochondria detected in neutrophils. hp0009lx5z owl:Class HP:0001227 biolink:NamedThing Abnormality of the thenar eminence An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb. hp0009lx5z Thenar abnormality UMLS:C4021783 human_phenotype owl:Class HP:0025077 biolink:NamedThing Decreased QRS voltage Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm. hp0009lx5z 2016-09-26 10:50:45+00:00 HPO:probinson owl:Class HP:0010967 biolink:NamedThing Abnormal circulating carnitine concentration Any deviation from the normal concentration of carnitine in the blood circulation. hp0009lx5z Carnitine levels abnormal L-carnitine (3-hydroxy-4-N.trimethylammonium butyrate) plays a key role in facilitating the transport of long-chain fatty acids from the cytosol into the mitochondrial matrix, where they undergo 13-oxidation. peter 2011-01-27T09:19:42Z UMLS:C4021855|UMLS:C4020761 human_phenotype owl:Class HP:0000244 biolink:NamedThing Brachyturricephaly Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. hp0009lx5z Brachy-turricephaly|Turribrachycephaly|High, prominent forehead UMLS:C1857484 human_phenotype owl:Class HP:0000248 biolink:NamedThing Brachycephaly An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. hp0009lx5z Broad head shape|Wide cranium shape|Broad skull shape|Wide skull shape|Wide head shape|Broad cranium shape|Short and broad skull Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. HP:0002258|HP:0004479|HP:0008512 SNOMEDCT_US:13649004|UMLS:C4072823|UMLS:C4072824|UMLS:C0221356|MSH:D003398 human_phenotype owl:Class HP:0005934 biolink:NamedThing Imperfect vocal cord adduction hp0009lx5z UMLS:C4025101 human_phenotype owl:Class HP:0031801 biolink:NamedThing Vocal cord dysfunction Any functional anomaly of the vocal cord. hp0009lx5z 2018-03-04 12:07:39+00:00 peter owl:Class HP:0010933 biolink:NamedThing Hyperxanthinemia An increased level of xanthine in the blood circulation. hp0009lx5z Xanthine is a purine base that is a product of purine degradation. peter 2011-01-10T07:53:26Z UMLS:C4023642 owl:Class HP:0004368 biolink:NamedThing Increased circulating purine concentration Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. hp0009lx5z Increased purine levels|Increased purine level peter 2008-03-18T06:31:00Z UMLS:C4025332 owl:Class HP:0410200 biolink:NamedThing Positive meconium barbiturate test Detection of barbiturate metabolites such as phenobarbital in meconium. hp0009lx5z 2018-07-20 23:02:36+00:00 owl:Class HP:0500098 biolink:NamedThing Meconium xenobiotic Presence of a xenobiotic in meconium. hp0009lx5z 2018-05-21 13:43:07+00:00 owl:Class HP:0006970 biolink:NamedThing Periventricular leukomalacia hp0009lx5z MSH:D007969|SNOMEDCT_US:230769007|UMLS:C0023529 human_phenotype owl:Class HP:0011533 biolink:NamedThing Snowflake vitreoretinal degeneration The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. hp0009lx5z Snowflake retinal degeneration peter 2012-04-07T09:52:37Z UMLS:C1860405|MSH:C536677 human_phenotype owl:Class HP:0008297 biolink:NamedThing Transient hyperphenylalaninemia A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). hp0009lx5z SNOMEDCT_US:28575006|UMLS:C0268464 human_phenotype owl:Class HP:0010033 biolink:NamedThing Triangular shaped 1st metacarpal This term applies to a triangular shaped 1st metacarpal. hp0009lx5z Triangular shaped 1st long bone of hand In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). doelkens 2009-05-27T04:24:30Z UMLS:C4024092 human_phenotype owl:Class HP:0003231 biolink:NamedThing Hypertyrosinemia An increased concentration of tyrosine in the blood. hp0009lx5z Tyrosinemia|Increased tyrosine in blood Defect in fumarylacetoacetase. SNOMEDCT_US:56595005|UMLS:C1879362 human_phenotype owl:Class HP:0010917 biolink:NamedThing Abnormal circulating tyrosine concentration Any deviation from the normal concentration of tyrosine in the blood circulation. hp0009lx5z peter 2010-12-08T09:13:53Z UMLS:C4023653 human_phenotype owl:Class HP:0033911 biolink:NamedThing Cortical radial artery medial hypertrophy Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. hp0009lx5z Interlobular artery medial hypertrophy|Medial hypertrophy within interlobular arteries 2021-06-23 23:07:07+00:00 peter owl:Class HP:0009339 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 3rd finger Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger. hp0009lx5z Fragmentation of end part of the outermost bone of the middle finger doelkens 2009-01-12T11:18:33Z UMLS:C4024428 human_phenotype owl:Class HP:0008767 biolink:NamedThing Self-mutilation of tongue and lips due to involuntary movements hp0009lx5z Self-mutilation of tongue and lips due to involuntary movements UMLS:C1860219 human_phenotype owl:Class HP:0025383 biolink:NamedThing Dorsocervical fat pad An area of fat accumulation at the back of the neck in the form of a hump. hp0009lx5z Buffalo hump 2017-04-21 11:39:02+00:00 HPO:probinson owl:Class HP:0100170 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 4th toe hp0009lx5z Bracket shaped end part of the outermost bone of the 4th toe doelkens 2010-06-24T04:53:36Z UMLS:C4022251 human_phenotype owl:Class HP:0100067 biolink:NamedThing Bracket epiphyses of the 4th toe hp0009lx5z Bracket shaped end part of 4th toe bone doelkens 2010-06-24T09:59:30Z UMLS:C4022354 human_phenotype owl:Class HP:0010294 biolink:NamedThing Palate fistula A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. hp0009lx5z Palatal perforation|Palatal hole|Hole in roof of mouth peter 2009-07-12T11:39:52Z UMLS:C2032780|UMLS:C4280385 human_phenotype owl:Class HP:0010962 biolink:NamedThing Extralobar sequestration A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura. hp0009lx5z Extralobar sequestration (ELS) may be asymptomatic. Infants with symptomatic lesions may present with respiratory distress, pneumonia, feeding difficulties, hemorrhage, or even congestive heart failure. The sequestered lobe may cause substantial arteriovenous shunting, leading to high-output cardiac failure. peter 2011-01-18T12:36:55Z UMLS:C4023626 human_phenotype owl:Class HP:0041050 biolink:NamedThing Renal tubular cyst Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. hp0009lx5z Renal tubule cyst owl:Class HP:0033825 biolink:NamedThing Superior mediastinal mass A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4). hp0009lx5z 2021-05-09 12:26:41+00:00 peter owl:Class HP:0033823 biolink:NamedThing Mediastinal mass A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). hp0009lx5z 2021-05-09 12:25:09+00:00 peter owl:Class HP:0100601 biolink:NamedThing Eclampsia An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. hp0009lx5z doelkens 2010-12-27T05:26:33Z MSH:D004461|SNOMEDCT_US:15938005|UMLS:C0013537 human_phenotype owl:Class HP:0009478 biolink:NamedThing Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal. hp0009lx5z Fused innermost bone of ring finger with 4th long bone of hand doelkens 2009-01-15T10:24:03Z UMLS:C4024341 human_phenotype owl:Class HP:0030877 biolink:NamedThing Reduced FEV1/FVC ratio Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). hp0009lx5z Obstructive deficit on pulmonary function test|Obstructive deficit on pulmonary function testing A low FEV1/FVC ratio indicates an obstructive defect. There are several cutoffs in the literature. The first option is to follow the GOLD criteria, which use a cutoff of less than 70 percent. For patients five to 18 years of age, the National Asthma Education and Prevention Program guideline says that a ratio of less than 85 percent is consistent with an obstructive defect as long as the patient has symptoms consistent with obstructive lung disease. The second option is to follow the ATS criteria, which use the lower limit of normal (LLN) as the cutoff for adults. The LLN is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III). UMLS:C4280729 owl:Class HP:0010776 biolink:NamedThing Tracheobronchmegaly Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection. hp0009lx5z Tracheobronchmegaly is typically characterized by atrophy or absence of elastic fibers and thinning of smooth muscle layers in the trachea and main bronchi. sdoelken 2010-04-29T10:22:55Z UMLS:C4023707 human_phenotype owl:Class HP:0010778 biolink:NamedThing Tracheomegaly Marked widening of the trachea. hp0009lx5z sdoelken 2010-04-29T10:28:51Z UMLS:C4023705 human_phenotype owl:Class HP:0012493 biolink:NamedThing Middle cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery. hp0009lx5z peter 2013-11-30T08:04:27Z UMLS:C1504568|SNOMEDCT_US:21290001000004104 human_phenotype owl:Class HP:0030225 biolink:NamedThing Accumulation of muscle fiber desmin Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy. hp0009lx5z Muscle fiber desmin-reactive inclusion bodies|Muscle fibre desmin-reactive inclusion bodies|Accumulation of muscle fibre desmin UMLS:C4021043 owl:Class HP:0030224 biolink:NamedThing Abnormal muscle fiber desmin A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein. hp0009lx5z Abnormal muscle fibre desmin UMLS:C4022573 owl:Class HP:0009818 biolink:NamedThing Amelia involving the lower limbs Amelia of one or both legs. hp0009lx5z doelkens 2009-02-23T05:11:07Z UMLS:C4024197 human_phenotype owl:Class HP:0009827 biolink:NamedThing Amelia Congenital absence (aplasia) of one or more limbs. hp0009lx5z doelkens 2009-02-23T05:17:25Z SNOMEDCT_US:62588002|MSH:D004480|UMLS:C0002447|MEDDRA:10001926 human_phenotype owl:Class HP:0009199 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger. hp0009lx5z Irregular end part of the innermost little finger bone|Irregular end part of the innermost pinky finger bone|Irregular end part of the innermost pinkie finger bone doelkens 2009-01-05T05:09:06Z UMLS:C4024541 human_phenotype owl:Class HP:0009153 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 5th finger Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. hp0009lx5z Abnormality of end part of the innermost bone of pinky finger|Abnormality of end part of the innermost bone of pinkie finger|Abnormality of end part of the innermost bone of little finger peter 2008-12-22T05:47:42Z UMLS:C4024568 human_phenotype owl:Class HP:0009988 biolink:NamedThing Duplication of the distal phalanx of the 5th finger Partial or complete duplication of the distal phalanx of little finger. hp0009lx5z Duplication of the outermost pinky finger bone|Duplication of the outermost little finger bone|Partial/complete duplication of the distal phalanx of the 5th finger|Duplication of the outermost pinkie finger bone doelkens 2009-05-26T02:24:20Z UMLS:C4021353 human_phenotype owl:Class HP:0012425 biolink:NamedThing Stercoral ulcer An ulcer of the colon due to pressure and irritation from retained fecal masses. hp0009lx5z Colon ulcer|Recto-sigmoid colon stercoral ulcer Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area. peter 2013-11-12T10:28:18Z SNOMEDCT_US:46040000|UMLS:C0267491|SNOMEDCT_US:235766003|UMLS:C0333302|SNOMEDCT_US:38084005 human_phenotype owl:Class HP:0009633 biolink:NamedThing Osteolytic defect of the proximal phalanx of the thumb Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb. hp0009lx5z Osteolytic defects of the proximal phalanx of the thumb doelkens 2009-01-29T05:09:41Z UMLS:C4021420 human_phenotype owl:Class HP:0009229 biolink:NamedThing Curved proximal phalanx of the 5th finger Curved appearance of the proximal phalanx of the 5th finger. hp0009lx5z Curved innermost bone of pinky finger|Curved innermost bone of pinkie finger|Curved innermost bone of little finger doelkens 2009-01-05T06:11:33Z UMLS:C4024515 human_phenotype owl:Class HP:0100619 biolink:NamedThing Sertoli cell neoplasm The presence of a neoplasm of the testis with origin in a Sertoli cell. hp0009lx5z Sertoli cell neoplasia doelkens 2010-12-28T11:42:18Z NCIT:C39976|UMLS:C4020704 human_phenotype owl:Class HP:0010202 biolink:NamedThing Duplication of middle phalanx of toe Partial or complete duplication of a middle phalanx of toe. hp0009lx5z Partial/complete duplication of the middle phalanges of the toes|Partial/complete duplication of the middle bones of the toes doelkens 2009-05-29T01:53:35Z UMLS:C4021318 human_phenotype owl:Class HP:0001934 biolink:NamedThing Persistent bleeding after trauma hp0009lx5z Frequent bleeding with trauma|Excessive bleeding after minor trauma|Prolonged bleeding after minor trauma HP:0007463 UMLS:C1844374 human_phenotype owl:Class HP:0041182 biolink:NamedThing Fractured middle phalanx of manual digit 2 A partial or complete breakage of the middle phalanx of manual digit 2. hp0009lx5z bone middle phalanx of manual digit 2 owl:Class HP:0032587 biolink:NamedThing Renal interstitial calcium oxalate The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. hp0009lx5z peter owl:Class HP:0003606 biolink:NamedThing Absent urinary urothione Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. hp0009lx5z Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor. UMLS:C4025591 owl:Class HP:0011344 biolink:NamedThing Severe global developmental delay A severe delay in the achievement of motor or mental milestones in the domains of development of a child. hp0009lx5z Severe psychomotor retardation|Global developmental delay, severe peter 2012-02-29T11:20:45Z UMLS:C1854919|UMLS:C1837397 human_phenotype owl:Class HP:0001263 biolink:NamedThing Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. hp0009lx5z Delayed psychomotor development|Retarded mental development|Delayed developmental milestones|Lack of psychomotor development|Psychomotor development failure|Psychomotor delay|Mental and motor retardation|Delayed cognitive development|Motor and developmental delay|Developmental retardation|Psychomotor development deficiency|Psychomotor developmental delay|Cognitive delay|Delayed milestones|Delayed development|Retarded psychomotor development|Developmental delay in early childhood|Developmental delay|Retarded development|Delayed intellectual development|Developmental delay, global Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. HP:0007106|HP:0006867|HP:0001277|HP:0001255|HP:0006793|HP:0001292|HP:0002532|HP:0007005|HP:0007342|HP:0006885|HP:0002433|HP:0007094|HP:0007174|HP:0000754|HP:0006935|HP:0002473|HP:0007228|HP:0007224 UMLS:C4020875|UMLS:C1864897|UMLS:C0557874|SNOMEDCT_US:224958001 human_phenotype owl:Class HP:0008850 biolink:NamedThing Severe postnatal growth retardation Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. hp0009lx5z Marked growth retardation|Severe growth delay in children|Severe postnatal growth failure|Severe postnatal growth deficiency HP:0008854|HP:0008911|HP:0008932|HP:0001521 UMLS:C1857641 human_phenotype owl:Class HP:0008897 biolink:NamedThing Postnatal growth retardation Slow or limited growth after birth. hp0009lx5z Postnatal growth deceleration|Postnatal growth deficiency|Growth delay as children|Growth retardation as children|Postnatal growth failure HP:0008868|HP:0008844|HP:0008865|HP:0008901|HP:0008918 UMLS:C1859778 human_phenotype owl:Class HP:0012475 biolink:NamedThing Decreased circulating level of specific antibody The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism. hp0009lx5z Decreased specific antibody in blood|Specific antibody deficiency|Abnormal specific antibody response peter 2013-11-27T10:21:15Z UMLS:C0398711|SNOMEDCT_US:234556002 owl:Class HP:0031404 biolink:NamedThing Impaired antigen-specific response An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). hp0009lx5z Impaired adaptive immune response 2017-09-03 15:36:45+00:00 peter owl:Class HP:0031743 biolink:NamedThing Inferior rectus muscle overaction Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. hp0009lx5z 2018-01-21 14:09:20+00:00 peter owl:Class HP:0025600 biolink:NamedThing Abnormal inferior rectus muscle physiology A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. hp0009lx5z 2018-01-13 21:31:55+00:00 HPO:probinson owl:Class HP:0012536 biolink:NamedThing Maternal anticardiolipin antibody positive The presence of circulating autoantibodies to anticardiolipin in the mother. hp0009lx5z There have been reports of cerebral infarction in a newborns in association with elevated maternal anticardiolipin antibodies. peter 2013-12-15T10:20:51Z UMLS:C4022860 human_phenotype owl:Class HP:0011437 biolink:NamedThing Maternal autoimmune disease A medical history of a fetus or child born to a mother with an autoimmune disease. hp0009lx5z Maternal autoimmune diseases with potential adverse effects for the fetus include autoimmune forms of hyperthyroidism and hypothyroidism, myasthenia gravis, systemic lupus erythematodes, and autoimmune forms of thrombocytopenia. peter 2012-03-17T07:54:31Z UMLS:C4023358 human_phenotype owl:Class HP:0030550 biolink:NamedThing Unaided visual acuity 3.0 LogMAR hp0009lx5z UMLS:C4073024 owl:Class HP:0025354 biolink:NamedThing Abnormal cellular phenotype An anomaly of cellular morphology or physiology. hp0009lx5z 2017-02-13 00:29:35+00:00 HPO:probinson owl:Class HP:0030711 biolink:NamedThing Hydrocolpos Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. hp0009lx5z This term is distinct from Hydrometrocolpos (HP:0030010), which indicates additional uterine dilation. MSH:D052202|UMLS:C1399870 owl:Class HP:0100130 biolink:NamedThing Small epiphysis of the proximal phalanx of the 2nd toe hp0009lx5z Small end part of the innermost bone of the 2nd toe doelkens 2010-06-24T10:06:29Z UMLS:C4022291 human_phenotype owl:Class HP:0040292 biolink:NamedThing Left hemiplegia hp0009lx5z Hemiplegia (left) owl:Class HP:0002301 biolink:NamedThing Hemiplegia Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. hp0009lx5z Paralysis on one side of body SNOMEDCT_US:50582007|UMLS:C0018991|MSH:D006429 human_phenotype owl:Class HP:0031302 biolink:NamedThing Lower extremity peripheral arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg. hp0009lx5z Lower extremity peripheral artery calcification 2017-08-26 21:03:24+00:00 peter owl:Class HP:0031301 biolink:NamedThing Peripheral arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall. hp0009lx5z Peripheral artery calcification 2017-08-26 20:56:01+00:00 Peripheral arterial calcification can be observed on radiographs and may be classified as either medial (linear calcifications in a train-track pattern) or atherosclerotic (distinct, nodular calcifications). A number of other techniques may also be used to detect peripheral arterial calcification including computed tomographic (CT) and magnetic resonance (MR) imaging, duplex ultrasonography, measurement of pulse wave velocity, echocardiography, planar radiographs, and indirectly, the ankle-brachial index. peter owl:Class HP:0010941 biolink:NamedThing Aplasia of the nasal bone Absence of the nasal bone. hp0009lx5z Missing nasal bone|Lack of development of the nasal bone|Agenesis of the nasal bone|Absence of the nasal bone|Failure of development of the nasal bone peter 2011-01-16T02:32:39Z UMLS:C0339851|SNOMEDCT_US:91900007|UMLS:C0339850|UMLS:C4023635|MSH:C562753 human_phenotype owl:Class HP:0010940 biolink:NamedThing Aplasia/Hypoplasia of the nasal bone Absence or underdevelopment of the nasal bone. hp0009lx5z peter 2011-01-16T02:31:16Z UMLS:C4023636 human_phenotype owl:Class HP:0040259 biolink:NamedThing Aplastic nasopharyngeal adenoids Absence of the nasopharyngeal adenoids as a developmental defect. hp0009lx5z UMLS:C4280690 owl:Class HP:0040256 biolink:NamedThing Aplastic/Hypoplastic nasopharyngeal adenoids Absence or underdevelopment of the nasopharyngeal adenoids. hp0009lx5z Adenoids small or absent UMLS:C4280290 owl:Class HP:0011280 biolink:NamedThing Abnormality of urine calcium concentration An abnormality of calcium concentration in the urine. hp0009lx5z Abnormality of urine Ca2+ concentration|Abnormality of urine Ca concentration peter 2011-12-30T03:27:02Z UMLS:C4023434 owl:Class HP:0500227 biolink:NamedThing Increased CSF serine concentration Abnormally increased levels of serine in cerebrospinal fluid. hp0009lx5z High serine levels in cerebrospinal fluid 2019-02-25 20:32:30+00:00 owl:Class HP:0025038 biolink:NamedThing Intratesticular abscess A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins. hp0009lx5z Testicular abscess 2016-09-21 11:02:09+00:00 HPO:probinson owl:Class HP:0012870 biolink:NamedThing Vanishing testis A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction. hp0009lx5z Testicular regression syndrome|Vanishing testis hecht 2014-06-09T11:00:13Z SNOMEDCT_US:53599007|MSH:C537770|UMLS:C0266427 human_phenotype owl:Class HP:0010927 biolink:NamedThing Abnormal blood inorganic cation concentration An abnormality of divalent inorganic cation homeostasis. hp0009lx5z Abnormality of divalent inorganic cation homeostasis peter 2011-01-06T07:47:18Z UMLS:C4023648 human_phenotype owl:Class HP:0033664 biolink:NamedThing Ganglioglioma Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells. hp0009lx5z 2021-02-28 14:45:46+00:00 Gangliogliomas are commonly found in the temporal lobe and may be associated with temporal lobe epilepsy. peter NCIT:C3788 owl:Class HP:0100251 biolink:NamedThing Multiple central nervous system lipomas The presence of mulitple lipomas located in the central nervous system. hp0009lx5z Lipomas of the central nervous system doelkens 2010-07-14T03:55:50Z NCIT:C3192|UMLS:C4022180 owl:Class HP:0100718 biolink:NamedThing Uterine rupture hp0009lx5z doelkens 2011-06-06T01:49:29Z MSH:D014597|SNOMEDCT_US:34430009|UMLS:C0042143 human_phenotype owl:Class HP:0004469 biolink:NamedThing Chronic bronchitis Chronic inflammation of the bronchi. hp0009lx5z MSH:D029481|UMLS:C0008677|SNOMEDCT_US:63480004 human_phenotype owl:Class HP:0000470 biolink:NamedThing Short neck Diminished length of the neck. hp0009lx5z Decreased cervical length|Cervical shortening|Decreased cervical height|Decreased length of neck|Short neck HP:0005992|HP:0200137 SNOMEDCT_US:95427009|UMLS:C0521525 owl:Class HP:0032181 biolink:NamedThing Anomalous hepatic venous drainage into the left atrium An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium. hp0009lx5z 2019-01-12 14:05:06+00:00 peter owl:Class HP:0030580 biolink:NamedThing Pinhole visual acuity 1.2 LogMAR hp0009lx5z UMLS:C4073053 owl:Class HP:0032531 biolink:NamedThing Elevated CSF gamma-aminobutyric acid concentration hp0009lx5z 2019-05-27 12:58:14+00:00 Abnormally increased level of gamma-amino butyric acid (GABA) in the cerebrospinal fluid (CSF). peter owl:Class HP:0500183 biolink:NamedThing Abnormal CSF carboxylic acid concentration Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid. hp0009lx5z 2019-02-25 15:15:53+00:00 owl:Class HP:0004222 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 5th finger A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. hp0009lx5z Cone-shaped end part of the outermost pinkie finger bone|Cone-shaped end part of the outermost pinky finger bone|Cone-shaped epiphysis of the distal phalanx of the little finger|Cone-shaped end part of the outermost little finger bone UMLS:C4021675 human_phenotype owl:Class HP:0012193 biolink:NamedThing Anaplastic large-cell lymphoma A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei. hp0009lx5z peter 2013-02-27T07:15:32Z MSH:D017728|SNOMEDCT_US:53237008|UMLS:C0206180|SNOMEDCT_US:277637000 human_phenotype owl:Class HP:0011015 biolink:NamedThing Abnormal blood glucose concentration An abnormality of the concentration of glucose in the blood. hp0009lx5z Abnormality of blood glucose concentration peter 2011-02-21T10:41:13Z UMLS:C4023597 human_phenotype owl:Class HP:0003345 biolink:NamedThing Elevated urinary norepinephrine An increased concentration of noradrenaline in the urine. hp0009lx5z UMLS:C4025626 human_phenotype owl:Class HP:0002605 biolink:NamedThing Hepatic necrosis The presence of cell death (necrosis) affecting the liver. hp0009lx5z peter 2008-02-20T11:32:00Z SNOMEDCT_US:87248009|UMLS:C0151798 owl:Class HP:0100424 biolink:NamedThing Partial duplication of the proximal phalanx of the 5th toe Partial duplication of the proximal phalanx of fifth toe. hp0009lx5z Partial duplication of the innermost bone of the pinkie toe|Partial duplication of the innermost bone of the little toe|Partial duplication of the proximal phalanx of the fifth toe|Partial duplication of the innermost bone of the pinky toe UMLS:C4020976 human_phenotype owl:Class HP:0030994 biolink:NamedThing Pancreas divisum A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present. hp0009lx5z 2017-05-13 13:56:45+00:00 In pancreas divisum, the majority of the pancreatic gland drains into the minor papilla via the duct of Santorini, whereas the posterior head and uncinate process drain into the major papilla via the duct of Wirsung with the common bile duct. Although most patients are asymptomatic, in some patients, this anomaly is associated with recurrent acute pancreatitis because of inadequate drainage of pancreatic secretions via the minor papilla. peter owl:Class HP:0009672 biolink:NamedThing Small epiphysis of the proximal phalanx of the thumb Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. hp0009lx5z Small end part of thumb innermost long bone doelkens 2009-01-30T09:17:13Z UMLS:C4024245 human_phenotype owl:Class HP:0025625 biolink:NamedThing Elevated proportion of CD4+ effector memory T cells An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype. hp0009lx5z Increased proportion of effector CD4-positive, alpha-beta T cells|Increased proportion of CD4-positive effector memory T cells|Increased proportion of CD4+ effector memory T cells 2019-04-09 00:13:18+00:00 HPO:probinson owl:Class HP:0009422 biolink:NamedThing Broad distal phalanx of the 3rd finger Increased width of the distal phalanx of the 3rd finger. hp0009lx5z Broad outermost bone of middle finger doelkens 2009-01-14T03:16:46Z UMLS:C4024373 human_phenotype owl:Class HP:0200025 biolink:NamedThing Mandibular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. hp0009lx5z Lower jaw pain sebastiankohler 2010-06-16T07:33:14Z SNOMEDCT_US:274667000|UMLS:C0236000 human_phenotype owl:Class HP:0011553 biolink:NamedThing Discordant atrioventricular connection Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. hp0009lx5z Discordant atrioventricular connexion peter 2012-04-07T11:47:06Z UMLS:C0344615|SNOMEDCT_US:253277003 human_phenotype owl:Class HP:0031216 biolink:NamedThing Increased circulating progesterone An elevated concentration of progesterone in the blood. hp0009lx5z 2017-07-02 11:33:47+00:00 peter owl:Class HP:0200160 biolink:NamedThing Agenesis of maxillary incisor hp0009lx5z Failure of development of upper incisor|Missing upper incisor|Failure of development of maxillary incisor|Absence of upper front tooth|Absence of maxillary incisor|Missing upper front tooth UMLS:C4021877|UMLS:C4280278|UMLS:C4280279 owl:Class HP:0009502 biolink:NamedThing Absent epiphysis of the distal phalanx of the 2nd finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger. hp0009lx5z Absent end part of the outermost bone of the index finger|Absent ossification/absent epiphysis of terminal index finger phalanx doelkens 2009-01-16T01:11:04Z HP:0004147 UMLS:C4021461 human_phenotype owl:Class HP:0033376 biolink:NamedThing Alveolar septal thickening Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology. hp0009lx5z 2020-12-23 13:39:44+00:00 peter owl:Class HP:0002694 biolink:NamedThing Sclerosis of skull base Increased bone density of the skull base without significant changes in bony contour. hp0009lx5z Marked sclerosis of skull base|HyperOssification of skull base|Dense bone of skull base|Sclerosis of cranial base|HyperCalcification of skull base|HyperMineralization of skull base|Sclerotic skull base|Sclerosis of the skull base|HyperOstosis of skull base HP:0005757 UMLS:C4072848|UMLS:C1851714|UMLS:C4072847 human_phenotype owl:Class HP:0032845 biolink:NamedThing Focal aware epileptic spasm A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure. hp0009lx5z peter owl:Class HP:0033319 biolink:NamedThing Fibrous crescent A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. hp0009lx5z 2020-11-29 13:37:23+00:00 peter owl:Class HP:0033316 biolink:NamedThing Glomerular crescent formation Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. hp0009lx5z 2020-11-29 13:27:03+00:00 The crescent is an unspecific histopathological lesion that can be triggered by a variety of different underlying disorders. Whenever, microvascular injury leads to rupture of the glomerular basement membrane (GBM), the leakage of plasma proteins drives parietal epithelial cell hyperplasia as the key cellular component of the crescent. Single nephron GFR decreases because of tuft collapse, rupture of the Bowman capsule, and influx of immune cells and fibroblasts are all secondary events that may or may not occur in individual glomeruli. Periglomerular immune cell infiltrates or fibrotic encasting of the activated parietal cells (fibrocellular crescents) are subsequent events that may affect the dynamics and prognosis of the disease. peter owl:Class HP:0005237 biolink:NamedThing Degenerative liver disease The presence of degenerative changes of the liver. hp0009lx5z UMLS:C4025230 owl:Class HP:0001491 biolink:NamedThing Congenital fibrosis of extraocular muscles Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. hp0009lx5z CFEOM|Congenital ophthalmoplegia|Congenital fibrosis of the extraocular muscles SNOMEDCT_US:400946004|MSH:C580012|UMLS:C1302995 human_phenotype owl:Class HP:0033532 biolink:NamedThing Decreased cardiac output A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. hp0009lx5z 2021-01-15 12:56:38+00:00 peter owl:Class HP:0033528 biolink:NamedThing Abnormal cardiac output A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs. hp0009lx5z 2021-01-15 12:48:17+00:00 peter owl:Class HP:0010337 biolink:NamedThing Aplasia/Hypoplasia of the 4th toe hp0009lx5z Absent/underdeveloped 4th toe|Absent/small 4th toe doelkens 2009-07-16T11:41:21Z UMLS:C4023895 human_phenotype owl:Class HP:0500212 biolink:NamedThing Increased CSF threonine concentration Abnormally increased levels of threonine in cerebrospinal fluid. hp0009lx5z High threonine levels in cerebrospinal fluid 2019-02-25 19:09:32+00:00 owl:Class HP:0011542 biolink:NamedThing Criss-cross atrioventricular valves with superior-inferior ventricles Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side. hp0009lx5z peter 2012-04-07T10:55:06Z UMLS:C4023309 human_phenotype owl:Class HP:0031130 biolink:NamedThing Impaired calcium ionophore-induced platelet aggregation Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore. hp0009lx5z Impaired Ca2+ ionophore-induced platelet aggregation|Impaired Ca ionophore-induced platelet aggregation 2017-06-10 12:33:25+00:00 peter owl:Class HP:0030619 biolink:NamedThing Reduced OCT-measured foveal thickness hp0009lx5z UMLS:C4073089 owl:Class HP:0030617 biolink:NamedThing Abnormal OCT-measured foveal thickness hp0009lx5z UMLS:C4073087 owl:Class HP:0002475 biolink:NamedThing Myelomeningocele Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. hp0009lx5z Meningomyelocele|Spina bifida cystica Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. SNOMEDCT_US:203994003|MSH:D008591|SNOMEDCT_US:414667000|Fyler:4309|UMLS:C0025312 human_phenotype owl:Class HP:0032946 biolink:NamedThing Renal cortical interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. hp0009lx5z peter owl:Class HP:0032945 biolink:NamedThing Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. hp0009lx5z peter owl:Class HP:0011744 biolink:NamedThing Secondary hypercortisolism Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol. hp0009lx5z ACTH-dependent hypercortisolemia peter 2012-04-21T11:46:27Z UMLS:C4023207|UMLS:C4020741 human_phenotype owl:Class HP:0033296 biolink:NamedThing Binucleated visceral epithelial cells Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. hp0009lx5z Binucleated podocytes 2020-11-28 21:35:21+00:00 peter owl:Class HP:0008652 biolink:NamedThing Autonomic erectile dysfunction Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. hp0009lx5z Impotence due to autonomic dysfunction UMLS:C1868524 human_phenotype owl:Class HP:0500187 biolink:NamedThing Increased CSF valine concentration Any increased amount from normal of valine in the cerebrospinal fluid. hp0009lx5z High valine levels in cerebrospinal fluid 2019-02-25 15:37:57+00:00 owl:Class HP:0500186 biolink:NamedThing Abnormal CSF valine concentration Any deviation from the normal concentration of valine in the cerebrospinal fluid. hp0009lx5z Abnormal valine levels in cerebrospinal fluid 2019-02-25 15:28:13+00:00 owl:Class HP:0001639 biolink:NamedThing Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. hp0009lx5z Enlarged and thickened heart muscle|Cardiomyopathy, hypertrophic|HCM UMLS:C0007194|MSH:D002312|SNOMEDCT_US:45227007|SNOMEDCT_US:233873004 owl:Class HP:0010212 biolink:NamedThing Flexion contracture of the hallux One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively. hp0009lx5z Joint contracture of the hallux|Joint contracture of the big toe doelkens 2009-06-02T01:39:18Z UMLS:C4021311 human_phenotype owl:Class HP:0032268 biolink:NamedThing Dural tail sign This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor. hp0009lx5z 2019-01-27 20:24:27+00:00 This sign has been traditionally considered as highly specific for meningioma. However, it is seen only in 60% of meningiomas and has also been reported in nonmeningiomatous lesions such as chloromas, primary CNS lymphomas, sarcoidosis, schwannomas, metastases, and syphilitic gummata. peter owl:Class HP:0030889 biolink:NamedThing Congenital shortened small intestine Substantially shortened length of the small intestine as a result of a developmental defect. hp0009lx5z Short bowel The mean length of the small intestine in full-term newborns is approximately 240 cm, increasing to 430 cm by 15 years of age. In adults, the average small bowel length is reported to be 600 cm, with a range of 260 cm to 800 cm. Short bowel syndrome (SBS) is a clinical disorder that is characterized by diarrhea and malabsorption following the functional or anatomical loss of enough small bowel length to markedly compromise intestinal absorptive capacity. SBS may result from from surgical resection, congenital defect, or disease-associated loss of absorption. This term describes congenital shortening of the small intestine that is one phenotypic feature of SBS. owl:Class HP:0032761 biolink:NamedThing Focal aware autonomic seizure with pallor/flushing A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0500254 biolink:NamedThing Abnormal urine hexanoylglycine concentration Abnormal concentration of hexanoylglycine in the urine. hp0009lx5z Abnormal urinary N-hexanoylglycine levels 2019-03-08 20:56:21+00:00 owl:Class HP:0011501 biolink:NamedThing Anterior lenticonus A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. hp0009lx5z peter 2012-04-04T07:54:36Z SNOMEDCT_US:95480008|UMLS:C0344262 human_phenotype owl:Class HP:0001142 biolink:NamedThing Lenticonus A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. hp0009lx5z A conical projection of the anterior or posterior surface of the lens. SNOMEDCT_US:253221000|UMLS:C0239119 human_phenotype owl:Class HP:0032258 biolink:NamedThing Pulmonary histoplasmosis Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum. hp0009lx5z 2019-01-27 18:17:55+00:00 peter owl:Class HP:0009950 biolink:NamedThing Complete duplication of the distal phalanx of the 2nd finger Complete duplication of the distal phalanx of index finger. hp0009lx5z Complete duplication of the outermost bone of the index finger doelkens 2009-05-15T02:03:28Z UMLS:C4024151 human_phenotype owl:Class HP:0040315 biolink:NamedThing Tongue edema An abnormal accumulation of fluid and swelling in the tongue. hp0009lx5z Tongue oedema owl:Class HP:0009245 biolink:NamedThing Triangular shaped distal phalanx of the 5th finger Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped outermost pinkie finger bone|Triangular shaped outermost pinky finger bone|Triangular shaped outermost little finger bone doelkens 2009-01-05T07:25:50Z UMLS:C4024502 human_phenotype owl:Class HP:0033323 biolink:NamedThing Glomerular capillary wall duplication with cellular interposition Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. hp0009lx5z 2020-11-29 14:01:35+00:00 peter owl:Class HP:0002561 biolink:NamedThing Absent nipple Congenital failure to develop, and absence of, the nipple. hp0009lx5z Athelia|Absent nipples|Absent nipple This finding can be unilateral or bilateral. SNOMEDCT_US:248820000|UMLS:C0425795 human_phenotype owl:Class HP:0030712 biolink:NamedThing Uterine synechiae Adhesions or scar tissue that form inside the cavity of the uterus. hp0009lx5z Asherman syndrome Asherman syndrome is a condition characterized by formation of intrauterine adhesions and results from injury to the endometrium. Asherman syndrome is often associated with infertility. SNOMEDCT_US:48236007|UMLS:C0156372|MSH:D006175 owl:Class HP:0010011 biolink:NamedThing Abnormality of the 3rd metacarpal Any abnormality of the third metacarpal bone. hp0009lx5z Abnormality of the 3rd long bone of hand doelkens 2009-05-27T03:35:21Z UMLS:C4024112 human_phenotype owl:Class HP:0002007 biolink:NamedThing Frontal bossing Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. hp0009lx5z Frontal protruberance|Skull bossing This is not the same as prominent forehead. HP:0001358|HP:0000254|HP:0001359|HP:0000333 SNOMEDCT_US:90145001|UMLS:C0221354 human_phenotype owl:Class HP:0012867 biolink:NamedThing Abnormal sperm mid-piece morphology A structural abnormality of the sperm mid-piece. hp0009lx5z Sperm mid-piece anomaly hecht 2014-06-09T10:50:37Z UMLS:C4022700 owl:Class HP:0011874 biolink:NamedThing Heparin-induced thrombocytopenia Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin. hp0009lx5z A delay of 5-10 days following administration of heparin is common in patients with no previous (or remote) exposure to heparin, but the drop in platelet count may be precipitous in patients with recent exposure. Heparin-induced thrombocytopenia is caused by antibodies against platelet factor 4. peter 2012-05-30T08:31:16Z SNOMEDCT_US:73397007|UMLS:C0272285 human_phenotype owl:Class HP:0004768 biolink:NamedThing Sparse anterior scalp hair Decreased number of head hairs per unit area on the anterior region of the scalp. hp0009lx5z Sparse scalp hair at front of head|Thin scalp hair at front of head UMLS:C1866246 owl:Class HP:0031350 biolink:NamedThing Cardiac sarcoma A malignant soft tissue neoplasm that arises from the heart. hp0009lx5z 2017-08-27 14:27:33+00:00 peter owl:Class HP:0100281 biolink:NamedThing Chronic colitis A chronic inflammatory disease of the large intestine (colon, cecum and rectum). hp0009lx5z doelkens 2010-08-10T09:26:33Z UMLS:C0267375|SNOMEDCT_US:54597004 human_phenotype owl:Class HP:0010637 biolink:NamedThing Conjunctival amyloidosis A form of amyloidosis that affects the conjunctiva. hp0009lx5z The deposition of amyloid, a noncollagenous protein, in the conjunctiva, which presents as a discrete, nontender, nonulcerative, waxy, yellow-white subconjunctival tissue. peter 2009-12-07T03:20:51Z SNOMEDCT_US:59017008|UMLS:C0268402 owl:Class HP:0033139 biolink:NamedThing Elevated circulating uracil concentration Concentration of uracil in the blood is above the normal range. hp0009lx5z 2020-09-09 13:56:10+00:00 peter owl:Class HP:0004353 biolink:NamedThing Abnormal circulating pyrimidine concentration Any deviation from the normal concentration of a pyrimidine in the blood circulation. hp0009lx5z peter 2008-03-17T01:05:00Z UMLS:C4025345 human_phenotype owl:Class HP:0003401 biolink:NamedThing Paresthesia Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. hp0009lx5z Tingling|Paresthesias|Pins and needles feeling HP:0002082 SNOMEDCT_US:91019004|MSH:D010292|UMLS:C0030554 human_phenotype owl:Class HP:0006705 biolink:NamedThing Abnormal atrioventricular valve morphology An abnormality of an atrioventricular valve. hp0009lx5z Abnormality of the atrioventricular valves peter 2008-03-29T03:34:00Z HP:0006675 UMLS:C4024995 human_phenotype owl:Class HP:0031570 biolink:NamedThing Tessier number 0 facial cleft A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension. hp0009lx5z Tessier facial cleft number 0 2017-10-14 12:22:09+00:00 peter owl:Class HP:0003831 biolink:NamedThing Age-dependent penetrance A situation in which phenotypic abnormalities become evident with age. hp0009lx5z Age dependent penetrance UMLS:C1835978 human_phenotype owl:Class HP:0008458 biolink:NamedThing Progressive congenital scoliosis A progressive form of scoliosis with congenital onset. hp0009lx5z UMLS:C1857025 human_phenotype owl:Class HP:0025097 biolink:NamedThing Eyelid myoclonus Marked, involuntary jerking of the eyelids. hp0009lx5z Blepharoclonus|Eyelid myoclonia 2016-10-28 05:55:32+00:00 Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences. HPO:probinson owl:Class HP:0033406 biolink:NamedThing Elevated circulating o-phosphoethanolamine concentration An increased concentration of o-phosphoethanolamine in the blood circulation. hp0009lx5z 2021-01-09 15:47:21+00:00 peter owl:Class HP:0009910 biolink:NamedThing Aplasia of the middle ear ossicles Absence of the middle ear ossicles, malleus, incus, and stapes. hp0009lx5z Absent middle ear ossicles|Absent middle ear bones peter 2009-05-01T03:26:53Z UMLS:C4021374 human_phenotype owl:Class HP:0004275 biolink:NamedThing Duplication of hand bones hp0009lx5z Duplication of hand bones UMLS:C3276746 human_phenotype owl:Class HP:0041060 biolink:NamedThing Chronic partially decreased circulating IgG4 A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood. hp0009lx5z Chronic partially decreased IgG4 in blood owl:Class HP:0004891 biolink:NamedThing Recurrent infections due to aspiration Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration. hp0009lx5z UMLS:C3806285 human_phenotype owl:Class HP:0002078 biolink:NamedThing Truncal ataxia Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. hp0009lx5z Trunk ataxia|Instability or lack of coordination of central trunk muscles Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support. HP:0007014 UMLS:C0427190|MSH:D001259|SNOMEDCT_US:250067008 human_phenotype owl:Class HP:0003928 biolink:NamedThing Cortical thickening of humeral diaphysis hp0009lx5z UMLS:C4025500 human_phenotype owl:Class HP:0005328 biolink:NamedThing Progeroid facial appearance A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. hp0009lx5z Premature aged appearance|Prematurely aged face|Wizened face|Aged facial appearance|Prematurely aged facial appearance HP:0005333|HP:0000335 UMLS:C1857710 human_phenotype owl:Class HP:0007495 biolink:NamedThing Prematurely aged appearance hp0009lx5z Prematurely aged appearance|Precociously senile appearance HP:0001599 UMLS:C1857656 human_phenotype owl:Class HP:0009702 biolink:NamedThing Carpal synostosis Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). hp0009lx5z Carpal fusion|Fused wrist bones|Fusion of carpal bones|Carpal bone fusion|Synostosis involving the carpal bones|Fused carpal bones doelkens 2009-01-30T04:25:10Z HP:0001192|HP:0005799 SNOMEDCT_US:253930002|UMLS:C0431863 human_phenotype owl:Class HP:0004278 biolink:NamedThing Synostosis involving bones of the hand An abnormal union between bones or parts of bones of the hand. hp0009lx5z Fused hand bones UMLS:C4020831 human_phenotype owl:Class HP:0010162 biolink:NamedThing Absent epiphyses of the toes Absence of the epiphyses of the phalanges of the toes. hp0009lx5z Absent end part of the toe bones doelkens 2009-05-29T01:34:06Z UMLS:C4023997 human_phenotype owl:Class HP:0030098 biolink:NamedThing Reduced muscle dystrophin expression A decreased amount of dystrophin in muscle fiber tissue. hp0009lx5z Reduced dystrophin staining in muscle UMLS:C4021053 owl:Class HP:0030096 biolink:NamedThing Abnormal muscle fiber dystrophin expression A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. hp0009lx5z Abnormal muscle fibre dystrophin expression UMLS:C4022648 owl:Class HP:0012557 biolink:NamedThing EEG with centrotemporal focal spike waves EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. hp0009lx5z peter 2014-01-04T01:43:32Z UMLS:C4022848 human_phenotype owl:Class HP:0033721 biolink:NamedThing EEG with centrotemporal epileptiform discharges Focal epileptiform EEG discharges recorded in the centrotemporal region. hp0009lx5z 2021-04-07 13:05:20+00:00 peter owl:Class HP:0100717 biolink:NamedThing Abnormal cementum morphology Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root). hp0009lx5z Abnormality of the cementum doelkens 2011-06-06T01:33:28Z UMLS:C4021987 owl:Class HP:3000050 biolink:NamedThing Abnormality of odontoid tissue An abnormality of an odontoid tissue. hp0009lx5z Abnormality of hard tissues of teeth|Abnormality of tooth hard tissue vasilevs 2015-08-07T01:08:54Z UMLS:C4073258 human_phenotype owl:Class HP:0011313 biolink:NamedThing Narrow nail Decreased width of nail. hp0009lx5z Narrow nail hecht 2012-02-12T01:33:34Z HP:0200076 UMLS:C4021829 human_phenotype owl:Class HP:0011268 biolink:NamedThing Absent tragus Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix. hp0009lx5z This appears to be unusual in an otherwise normal ear, and is most often seen in microtia with atretic auditory meatus, but those findings should be coded separately. peter 2011-12-18T07:55:39Z UMLS:C4023439 human_phenotype owl:Class HP:0033266 biolink:NamedThing Glomerular pseudocrescent Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. hp0009lx5z 2020-11-28 15:19:59+00:00 peter owl:Class HP:0032801 biolink:NamedThing Focal impaired awareness cognitive seizure with memory impairment A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0009708 biolink:NamedThing Synostosis involving the 5th metacarpal hp0009lx5z Fusion involving the 5th long bone of hand doelkens 2009-01-30T04:32:03Z UMLS:C4024225 human_phenotype owl:Class HP:0000384 biolink:NamedThing Preauricular skin tag A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). hp0009lx5z Preauricular tags|Preauricular acrochordon|Preauricular fibroepithelial polyp|Skin tag in front of the ear|Ear tag|Periauricular skin tag|Preauricular tag|Skin tag on the posterior cheek|Preauricular skin tags HP:0100278|HP:0008575 UMLS:C4072826|UMLS:C1860816 human_phenotype owl:Class HP:0010609 biolink:NamedThing Skin tags Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. hp0009lx5z Acrochorda sandra1 2009-10-27T11:41:03Z SNOMEDCT_US:201091002|UMLS:C0037293|SNOMEDCT_US:80801001|SNOMEDCT_US:31069005 human_phenotype owl:Class HP:0009425 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 3rd finger Uneven (irregular) increase in bone density of the distal phalanx of the third finger. hp0009lx5z Uneven increase in bone density in the outermost bone of the 3rd finger doelkens 2009-01-14T03:16:46Z UMLS:C4024371 human_phenotype owl:Class HP:0100901 biolink:NamedThing Sclerosis of the distal phalanx of the 3rd finger hp0009lx5z Increased bone density in the outermost bone of the middle finger UMLS:C4021941 human_phenotype owl:Class HP:0030868 biolink:NamedThing Monorchism Having only one testis in the scrotum. hp0009lx5z Monorchidism SNOMEDCT_US:87310001|UMLS:C0266429 owl:Class HP:0030262 biolink:NamedThing Narrow penis Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age. hp0009lx5z Narrow penis Penile width is the distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis. UMLS:C4022552 owl:Class HP:0003149 biolink:NamedThing Hyperuricosuria An abnormally high level of uric acid in the urine. hp0009lx5z High urine uric acid level UMLS:C0948643 human_phenotype owl:Class HP:0430026 biolink:NamedThing Abnormality of the shape of the midface An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims. hp0009lx5z Abnormality of the shape of the midface|Dysmorphic midface|Abnormal morphology of the midface UMLS:C4073208 owl:Class HP:0010015 biolink:NamedThing Absent epiphysis of the 1st metacarpal hp0009lx5z Absent end part of the 1st long bone of hand doelkens 2009-05-27T04:02:50Z UMLS:C4024108 human_phenotype owl:Class HP:0010562 biolink:NamedThing Keloids hp0009lx5z peter 2009-10-15T07:39:56Z MSH:D007627|SNOMEDCT_US:33659008|MEDDRA:10023330|SNOMEDCT_US:58405006|UMLS:C0022548 human_phenotype owl:Class HP:0000987 biolink:NamedThing Atypical scarring of skin Atypically scarred skin . hp0009lx5z Atypical scarring|Atypical scarring of skin UMLS:C4021786 human_phenotype owl:Class HP:0033561 biolink:NamedThing Anti-bactericidal/permeability-increasing protein antibody positivity The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies. hp0009lx5z Anti-BPI antibody positivity 2021-01-23 12:25:21+00:00 peter owl:Class HP:0000235 biolink:NamedThing Abnormality of the fontanelles or cranial sutures Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). hp0009lx5z Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months. UMLS:C4025876 human_phenotype owl:Class HP:0011586 biolink:NamedThing Thoracoabdominal ectopia cordis Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity. hp0009lx5z In many cases, thoracicoabdominal ectopia cordis is characterized by partial absence or cleft of the sternum, deficiency of the anterior diaphragm, deficiency of the diaphragmatic pericardium, midline abdominal wall defect, and congenital intracardiac abnormalities. These five characteristics comprise the pentalogy of Cantrell. peter 2012-04-08T01:13:52Z UMLS:C4023283 human_phenotype owl:Class HP:0100802 biolink:NamedThing Malposition of the stomach Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation. hp0009lx5z Abnormal stomach location|Gastric ectopia|Gastric malposition doelkens 2011-06-09T11:52:49Z UMLS:C1402983 human_phenotype owl:Class HP:0010407 biolink:NamedThing Curved middle phalanx of the 2nd toe A deviation from the normal straight form of the middle phalanx of the 2nd toe. hp0009lx5z Curved middle bone of 2nd toe doelkens 2009-07-16T12:43:52Z UMLS:C4023848 human_phenotype owl:Class HP:0012453 biolink:NamedThing Bilateral wrist flexion contracture A chronic loss of wrist joint motion on the right and left sides. hp0009lx5z Bilateral wrist contracture peter 2013-11-23T07:58:50Z UMLS:C4020723|UMLS:C4022899 human_phenotype owl:Class HP:0003997 biolink:NamedThing Hypoplastic radial head hp0009lx5z Small radial head UMLS:C4021695 human_phenotype owl:Class HP:0003995 biolink:NamedThing Abnormality of the radial head hp0009lx5z Deformity of radial heads UMLS:C4021696 human_phenotype owl:Class HP:0005356 biolink:NamedThing Decreased serum complement factor I A reduced level of the complement component Factor I in circulation. hp0009lx5z UMLS:C1970257 human_phenotype owl:Class HP:0008421 biolink:NamedThing Tall lumbar vertebral bodies hp0009lx5z UMLS:C1863313 human_phenotype owl:Class HP:0009831 biolink:NamedThing Mononeuropathy A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. hp0009lx5z Single damaged nerve peter 2009-03-01T08:27:29Z SNOMEDCT_US:128189008|UMLS:C0494491|MSH:D020422 human_phenotype owl:Class HP:0010650 biolink:NamedThing Hypoplasia of the premaxilla An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. hp0009lx5z Underdevelopment of premaxilla|Hypoplasia of the primary palate bone|Primary palate bone deficiency|Small premaxilla|Premaxillary underdevelopment|Hypoplasia of the intermaxillary bone|Underdevelopment of the primary palate bone|Decreased size of the primary palate bone|Primary palate bone retrusion|Premaxillary bone retrusion|Premaxillary bone deficiency|Underdevelopment of the premaxilla|Decreased size of premaxilla|Small primary palate bone|Premaxillary retrusion peter 2010-02-25T10:11:43Z UMLS:C4072878|UMLS:C4020770 human_phenotype owl:Class HP:0002692 biolink:NamedThing Hypoplastic facial bones hp0009lx5z Small facial skeleton|Flattening of facial bones|Flattening of facial skeleton|Hypotrophic facial skeleton|Underdevelopment of facial skeleton|Decreased size of facial bones|Decreased size of facial skeleton|Underdevelopment of facial bones|Hypotrophic facial bones|Small facial bones|Hypoplasia of facial skeleton UMLS:C4229090|UMLS:C4280558|UMLS:C4280268|UMLS:C1846438|UMLS:C4280557 human_phenotype owl:Class HP:0009748 biolink:NamedThing Large earlobe Increased volume of the earlobe, that is, abnormally prominent ear lobules. hp0009lx5z Fleshy earlobes|Large earlobe|Prominent ear lobes|Fleshy earlobe|prominent ear lobules All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood. peter 2009-01-31T04:02:42Z HP:0004449|HP:0004456 UMLS:C1844573 human_phenotype owl:Class HP:0004491 biolink:NamedThing Large posterior fontanelle An enlargement of the posterior fontanelle relative to age-dependent norms. hp0009lx5z Large posterior fontanel UMLS:C1855233 human_phenotype owl:Class HP:0033611 biolink:NamedThing Part-solid pulmonary nodule Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized. hp0009lx5z 2021-01-30 22:22:54+00:00 peter owl:Class HP:0033610 biolink:NamedThing Subsolid pulmonary nodule Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention. hp0009lx5z 2021-01-30 22:17:33+00:00 peter owl:Class HP:0030795 biolink:NamedThing Reduced C-peptide level A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion. hp0009lx5z Reduced C peptide level UMLS:C4280764 owl:Class HP:0030794 biolink:NamedThing Abnormal C-peptide level An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. hp0009lx5z Abnormal C peptide level UMLS:C4280765 owl:Class HP:0003075 biolink:NamedThing Hypoproteinemia A decreased concentration of protein in the blood. hp0009lx5z Decreased protein levels in blood SNOMEDCT_US:8900005|UMLS:C0020639|MSH:D007019 owl:Class HP:0100475 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 5th toe hp0009lx5z Fused innermost bone of little toe|Fused innermost bone of pinkie toe|Fused innermost bone of pinky toe UMLS:C4022052 human_phenotype owl:Class HP:0100768 biolink:NamedThing Choriocarcinoma A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors. hp0009lx5z doelkens 2011-06-07T11:05:40Z SNOMEDCT_US:188188009|UMLS:C0008497|MSH:D002822|SNOMEDCT_US:44769000 human_phenotype owl:Class HP:0031502 biolink:NamedThing Trophoblastic tumor A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]. hp0009lx5z Trophoblastic tumour 2017-09-18 01:07:36+00:00 peter owl:Class HP:0010615 biolink:NamedThing Angiofibromas Angiofibroma consist of many often dilated vessels. hp0009lx5z sandra1 2009-10-28T06:00:14Z MSH:D018322|SNOMEDCT_US:302857002|NCIT:C3799|UMLS:C0206731|SNOMEDCT_US:60392001 human_phenotype owl:Class HP:0000558 biolink:NamedThing Rieger anomaly A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. hp0009lx5z Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. SNOMEDCT_US:47507006|UMLS:C0265341|MSH:C535679 human_phenotype owl:Class HP:0000809 biolink:NamedThing Urinary tract atresia Congenital absence of the normal opening of a structure of the urinary tract. hp0009lx5z peter 2008-02-27T04:07:00Z UMLS:C1389003 human_phenotype owl:Class HP:0032398 biolink:NamedThing Dysgyria An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. hp0009lx5z 2019-02-24 17:04:20+00:00 peter owl:Class HP:0009049 biolink:NamedThing Peroneal muscle atrophy Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). hp0009lx5z Peroneal atrophy The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals. HP:0008982|HP:0008939 UMLS:C1389118 human_phenotype owl:Class HP:0033473 biolink:NamedThing 10-minute APGAR score of 5 hp0009lx5z 2021-01-09 22:45:51+00:00 peter owl:Class HP:0006679 biolink:NamedThing Granulomatous coronary arteritis Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. hp0009lx5z A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). UMLS:C4025007 human_phenotype owl:Class HP:0100876 biolink:NamedThing Infra-orbital crease Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. hp0009lx5z Crease in skin under the eye|Infraorbital crease|Infraorbital creases|Groove in skin under the eye|Underorbital skin creases This feature is often found in the presence of hypoplasia of the malar process of the maxilla or zygoma, but should be coded separately. doelkens 2011-12-01T02:21:22Z HP:0007796 UMLS:C1857280 human_phenotype owl:Class HP:0030136 biolink:NamedThing Enhanced ristocetin cofactor assay activity Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma. hp0009lx5z This abnormality is characteristic of type 2B von Willibrand disease. UMLS:C4022612 owl:Class HP:0001041 biolink:NamedThing Facial erythema Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. hp0009lx5z Red face|Blushing|Blushed cheeks|Ruddy face|Rosacea|Red in the face HP:0001068 MSH:D012393|SNOMEDCT_US:398909004|SNOMEDCT_US:271811009|UMLS:C0239488|MSH:D001821|SNOMEDCT_US:20255002|UMLS:C0035854|UMLS:C0005874|UMLS:C4020880 owl:Class HP:0012091 biolink:NamedThing Abnormality of pancreas physiology An anomaly of the function of the pancreas. hp0009lx5z peter 2012-08-20T09:17:10Z UMLS:C4023048 human_phenotype owl:Class HP:0030862 biolink:NamedThing Elevated CSF amyloid level Increased concentration of amyloid in the cerebrospinal fluid (CSF). hp0009lx5z UMLS:C4280738 owl:Class HP:0010994 biolink:NamedThing Abnormal corpus striatum morphology Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. hp0009lx5z Abnormality of the striatum|Abnormality of the striate nucleus|Abnormality of the neostriatum The striatum (also known as the neostriatum or striate nucleus) contains the caudate nucleus and putamen, which are separated from one another by a white matter tract called the internal capsule. The striatum is part of the basal ganglia and receives input from the cerebral cortex. Essentially all cortical areas (sensory, motor and associational) project to the striatum. The other major input to the striatum comes from the thalamus, particularly the intralaminar thalamic nuclei. peter 2011-02-10T08:31:42Z UMLS:C4023607 human_phenotype owl:Class HP:0100066 biolink:NamedThing Absent epiphyses of the 4th toe hp0009lx5z Absent end part of the 4th toe bone doelkens 2010-06-24T09:59:30Z UMLS:C4022355 human_phenotype owl:Class HP:0003994 biolink:NamedThing Dislocated wrist An injury of the wrist with displacement of any of the eight carpal bones. hp0009lx5z Dislocated wrist|Dislocations of the wrists HP:0004992 SNOMEDCT_US:125618007|MEDDRA:10013184|UMLS:C0159941 human_phenotype owl:Class HP:0030037 biolink:NamedThing Bifid ureter Incomplete duplication of the ureter. hp0009lx5z UMLS:C3887498 owl:Class HP:0010934 biolink:NamedThing Xanthinuria An increased concentration of xanthine in the urine. hp0009lx5z Increased urinary xanthine Xanthinuria is generally caused by a defect in the xanthine oxidase, an enzyme that catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. The formation of xanthine stones in the urinary tract is the main evidence of this abnormality. peter 2011-01-10T07:55:12Z SNOMEDCT_US:54627004|SNOMEDCT_US:190919008|UMLS:C0220988 human_phenotype owl:Class HP:0006289 biolink:NamedThing Agenesis of central incisor Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. hp0009lx5z Missing central incisors|Absent central incisor|Failure of development of central incisor|Absent central incisors HP:0006320 UMLS:C1855000|UMLS:C4020819 human_phenotype owl:Class HP:0030378 biolink:NamedThing Decreased proportion of immature B cells A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). hp0009lx5z Decreased proportion of CD19+/CD21low B cells UMLS:C4072917 owl:Class HP:0002714 biolink:NamedThing Downturned corners of mouth A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. hp0009lx5z Downturned corners of mouth|Downturned mouth|Downturned corners of the mouth|Downturned oral commisures This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). HP:0000192 UMLS:C1866195 human_phenotype owl:Class HP:0003351 biolink:NamedThing Decreased circulating renin level An decreased level of renin in the blood. hp0009lx5z Low plasma renin activity|Suppressed plasma renin activity|Decreased plasma renin activity HP:0003263 UMLS:C1845206 human_phenotype owl:Class HP:0040084 biolink:NamedThing Abnormal circulating renin A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. hp0009lx5z Abnormal plasma renin|Abnormal circulating renin HPO:skoehler UMLS:C4021038 owl:Class HP:0031666 biolink:NamedThing Late systolic murmur A murmur that occurs in the latter phase of systole. hp0009lx5z 2017-12-17 16:19:04+00:00 A late systolic murmur heard best at the apex of the heart may indicate mitral valve prolapse. peter owl:Class HP:0006771 biolink:NamedThing Duodenal adenocarcinoma A malignant epithelial tumor with a glandular organization that originates in the duodenum. hp0009lx5z Duodenal cancer UMLS:C0278804|SNOMEDCT_US:254570009|SNOMEDCT_US:408644002|MSH:D004379|NCIT:C2852|UMLS:C0541912 human_phenotype owl:Class HP:0040274 biolink:NamedThing Adenocarcinoma of the small intestine A malignant epithelial tumor with a glandular organization that originates in the small intestine. hp0009lx5z NCIT:C2852|UMLS:C0278803|SNOMEDCT_US:424440001 owl:Class HP:0007922 biolink:NamedThing Hypermyelinated retinal nerve fibers hp0009lx5z Hypermyelinated retinal nerve fibres|Retinal striation HP:0007654 UMLS:C1849151 human_phenotype owl:Class HP:0020119 biolink:NamedThing Abnormal retinal nerve fiber layer morphology A structural abnormality of the retinal nerve fiber layer hp0009lx5z Abnormal retinal nerve fibre layer morphology The retinal nerve fiber layer consists of unmyelinated ganglion cell axons coursing on the vitreal surface of the retina to the optic disk. These axons become myelinated after entering the optic nerve. robinp 2019-07-02 16:34:14+00:00 owl:Class HP:0012542 biolink:NamedThing Onychauxis Thickened nails without deformity. hp0009lx5z peter 2013-12-15T10:49:45Z UMLS:C0263536|SNOMEDCT_US:30654002 human_phenotype owl:Class HP:0001805 biolink:NamedThing Onychogryposis Nail that appears thick when viewed on end. hp0009lx5z Thick nail|Dystrophic thickened nails|Thickened nails There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity. HP:0200088|HP:0001819 SNOMEDCT_US:52897009|UMLS:C0263537 owl:Class HP:0040132 biolink:NamedThing Abnormal sensory nerve conduction velocity hp0009lx5z HPO:skoehler UMLS:C4022421 owl:Class HP:0040129 biolink:NamedThing Abnormal nerve conduction velocity hp0009lx5z Abnormal nerve conduction|Nerve conduction abnormalities|Abnormal nerve conduction velocities HPO:skoehler UMLS:C1866772 owl:Class HP:0002171 biolink:NamedThing Gliosis Gliosis is the focal proliferation of glial cells in the central nervous system. hp0009lx5z Excess astrocytes in brain|Cerebral gliosis Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury. UMLS:C0017639|MSH:D005911|SNOMEDCT_US:81415000|SNOMEDCT_US:359580009 human_phenotype owl:Class HP:0100705 biolink:NamedThing Abnormal glial cell morphology An abnormality of the glia cell. hp0009lx5z Abnormality of the glial cells Glia are nonneuronal cells of the nervous system that provide physical support, respond to injury, regulate the composition of the extracellular milieu, guide neuronal migration during development, and exchange metabolites with neurons. doelkens 2011-04-03T02:33:49Z UMLS:C4021993 human_phenotype owl:Class HP:0011853 biolink:NamedThing Serous pericardial effusion Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac. hp0009lx5z hecht 2012-05-21T10:49:08Z UMLS:C4023160 owl:Class HP:0012164 biolink:NamedThing Asterixis A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. hp0009lx5z The examiner can test for asterixis by asking the patient to extend the arms, spread the fingers, dorsiflex the wrist and observe for the abnormal "flapping" tremor at the wrist. Asterixis represents the failure to actively maintain a position and is caused by the abnormal function of diencephalic motor centers that regulate the tone of the agonist and antagonist muscles involved in maintaining posture. peter 2013-02-16T10:20:08Z SNOMEDCT_US:32838008|MSH:D020820|UMLS:C0232766 human_phenotype owl:Class HP:0012049 biolink:NamedThing Laryngeal dystonia A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. hp0009lx5z Spasmodic dysphonia peter 2012-08-01T12:34:41Z SNOMEDCT_US:3331000119108|UMLS:C1963946 owl:Class HP:0001618 biolink:NamedThing Dysphonia An impairment in the ability to produce voice sounds. hp0009lx5z Voice change|Inability to produce voice sounds SNOMEDCT_US:47004009|UMLS:C1527344|MSH:D055154 owl:Class HP:0025278 biolink:NamedThing Cold-induced sweating Sweating provoked by cold temperature rather than by heat. hp0009lx5z 2016-12-18 15:16:15+00:00 HPO:probinson owl:Class HP:0009341 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 3rd finger Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the outermost middle finger bone doelkens 2009-01-12T11:18:33Z UMLS:C4024426 human_phenotype owl:Class HP:0031196 biolink:NamedThing Thin myocardium compact layer Reduced thickness of the outer, dense layer of the myocardium. hp0009lx5z 2017-06-24 14:16:07+00:00 The myocardium compact layer is only in the left ventricle. peter owl:Class HP:0500026 biolink:NamedThing Hypoplasia of the musculature of the pelvis Underdevelopment of the musculature of the pelvis. hp0009lx5z 2017-05-25 16:53:10+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0009258 biolink:NamedThing Small epiphysis of the distal phalanx of the 4th finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. hp0009lx5z Small end part of the outermost bone of the ring finger doelkens 2009-01-07T12:07:34Z UMLS:C4024489 human_phenotype owl:Class HP:0009401 biolink:NamedThing Small epiphyses of the 4th finger Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms. hp0009lx5z Small end part of ring finger bone doelkens 2009-01-13T01:59:12Z UMLS:C4024389 human_phenotype owl:Class HP:0031753 biolink:NamedThing Medial rectus muscle weakness Decreased strength of the medial rectus muscle. hp0009lx5z 2018-01-21 14:25:38+00:00 peter owl:Class HP:0025606 biolink:NamedThing Abnormal medial rectus muscle physiology A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. hp0009lx5z 2018-01-13 22:41:09+00:00 HPO:probinson owl:Class HP:0012209 biolink:NamedThing Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor. hp0009lx5z Juvenile myelomonocytic leukaemia peter 2013-03-12T12:27:41Z MSH:D054429|SNOMEDCT_US:128832006|SNOMEDCT_US:445227008|UMLS:C0349639|SNOMEDCT_US:277587001 human_phenotype owl:Class HP:0033062 biolink:NamedThing Abnormal factor IX activity Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. hp0009lx5z peter owl:Class HP:0030205 biolink:NamedThing Increased jitter at single fiber EMG The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). hp0009lx5z Increased jitter at single fibre EMG|Increased jitter at single fibre electromyography Increased jitter values are not pathogonomic for myasthenia, but indicate disturbed neuromuscular transmission. UMLS:C4021045 owl:Class HP:0012448 biolink:NamedThing Delayed myelination Delayed myelination. hp0009lx5z peter 2013-11-23T03:47:56Z SNOMEDCT_US:135810007|UMLS:C1277241 human_phenotype owl:Class HP:0030610 biolink:NamedThing Photoreceptor outer segment loss on macular OCT hp0009lx5z UMLS:C4073080 owl:Class HP:0006174 biolink:NamedThing Metacarpal diaphyseal endosteal sclerosis Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone. hp0009lx5z UMLS:C1840419 human_phenotype owl:Class HP:0007338 biolink:NamedThing Hypermetric saccades A saccade that overshoots the target with the dynamic saccade. hp0009lx5z UMLS:C0423083|SNOMEDCT_US:246769000 human_phenotype owl:Class HP:0025168 biolink:NamedThing Left ventricular diastolic dysfunction Abnormal function of the left ventricule during left ventricular relaxation and filling. hp0009lx5z 2016-12-04 14:01:20+00:00 Diastolic left ventricular disease can cause of limitation of exercise tolerance, whether or not ejection fraction is normal. This feature can be assessed by cardiac imaging. HPO:probinson owl:Class HP:0005162 biolink:NamedThing Abnormal left ventricular function Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. hp0009lx5z Impaired left ventricular function|Left ventricular dysfunction|Left ventricular failure|Left-sided heart failure|Left ventricular impairment HP:0005154 SNOMEDCT_US:275514001|SNOMEDCT_US:85232009|UMLS:C0023212|UMLS:C0553982|MSH:D006333 owl:Class HP:0025452 biolink:NamedThing Pyoderma gangrenosum A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer. hp0009lx5z 2017-05-04 10:30:38+00:00 Pyoderma gangrenosum can occur on any skin surface, but is most commonly seen on the legs. Patients are often systemically unwell with symptoms such as fever, malaise, arthralgia, and myalgia. Lesions are usually painful and the pain can be severe. When the lesions heal the scars are often cribriform. About half of the cases are associated with underlying systemic conditions, such as inflammatory bowel disease, arthritis, and haematological malignancies. HPO:probinson owl:Class HP:0005790 biolink:NamedThing Short mandibular condyles hp0009lx5z Short condylar neck of mandible|Bilateral hypoplasia of mandibular condylar neck|Decreased length of condylar process of mandible|Short condylar process of mandible|Bilateral hypoplasia of condylar process of mandible|Short condylar head of mandible|Bilateral hypoplasia of mandibular condylar head|Decreased height of condylar process of mandible UMLS:C4025134|UMLS:C4280474|UMLS:C4280475 human_phenotype owl:Class HP:0003472 biolink:NamedThing Hypocalcemic tetany Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. hp0009lx5z SNOMEDCT_US:190869004|UMLS:C0151940 human_phenotype owl:Class HP:0005472 biolink:NamedThing Orbital craniosynostosis hp0009lx5z UMLS:C4025192 human_phenotype owl:Class HP:0033972 biolink:NamedThing Interlobular vein medial atrophy Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. hp0009lx5z Medial atrophy within interlobular veins 2021-06-24 12:57:16+00:00 peter owl:Class HP:0005104 biolink:NamedThing Hypoplastic nasal septum Underdevelopment of the nasal septum. hp0009lx5z Small septum of nose|Small nasal septum|Decreased size of septum of nose|Decreased size of nasal septum|Hypoplasia of septum of nose peter 2008-03-25T05:15:00Z UMLS:C1861328 human_phenotype owl:Class HP:0009512 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 2nd finger A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. hp0009lx5z Triangular end part of the outermost bone of the index finger doelkens 2009-01-16T01:11:04Z UMLS:C4024319 human_phenotype owl:Class HP:0025493 biolink:NamedThing Palmoplantar erythema Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. hp0009lx5z 2017-05-14 19:34:38+00:00 HPO:probinson owl:Class HP:0030780 biolink:NamedThing Abnormality of the protein C anticoagulant pathway An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC. hp0009lx5z UMLS:C4280774 owl:Class HP:0005787 biolink:NamedThing Lumbar platyspondyly A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine. hp0009lx5z HP:0004588 UMLS:C4025136 human_phenotype owl:Class HP:0004451 biolink:NamedThing Postauricular skin tag A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). hp0009lx5z Postauricular fibroepithelial polyp|Skin tag behind the ear|Postauricular acrochordon UMLS:C4025323 human_phenotype owl:Class HP:3000068 biolink:NamedThing Abnormality of lateral pterygoid muscle An abnormality of a lateral pterygoid muscle. hp0009lx5z vasilevs 2015-08-07T03:38:40Z UMLS:C4073275 human_phenotype owl:Class HP:0012189 biolink:NamedThing Hodgkin lymphoma A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. hp0009lx5z Hodgkin's lymphoma|Hodgkin disease peter 2013-02-27T06:53:11Z SNOMEDCT_US:118602004|MSH:D006689|SNOMEDCT_US:14537002|SNOMEDCT_US:118606001|SNOMEDCT_US:46923007|SNOMEDCT_US:74189002|SNOMEDCT_US:70600005|SNOMEDCT_US:118599009|SNOMEDCT_US:118605002|UMLS:C0019829 human_phenotype owl:Class HP:0008855 biolink:NamedThing Moderate postnatal growth retardation A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms. hp0009lx5z Moderate growth delay in children UMLS:C4024616 human_phenotype owl:Class HP:0020118 biolink:NamedThing Radial artery aplasia Congenital absence of the radial artery. hp0009lx5z robinp 2019-07-02 16:30:41+00:00 owl:Class HP:0010077 biolink:NamedThing Broad distal phalanx of the hallux An increase in width of the distal phalanx of the big toe. hp0009lx5z Broad outermost bone of big toe|Wide outermost bone of big toe doelkens 2009-05-29T12:16:28Z UMLS:C4024068 human_phenotype owl:Class HP:0010059 biolink:NamedThing Broad hallux phalanx An increase in width in one or more phalanges of the big toe. hp0009lx5z Broad phalanges of the hallux|Broad bone of big toe|Wide bone of big toe doelkens 2009-05-29T12:10:46Z UMLS:C4021343 human_phenotype owl:Class HP:0100507 biolink:NamedThing Reduced blood folate concentration A reduced circulating concentration of folic acid, which is also known as vitamin B9. hp0009lx5z Vitamin B9 deficiency|Folate deficiency doelkens 2010-12-17T06:13:04Z MSH:D005494|UMLS:C0016412|SNOMEDCT_US:190633005 human_phenotype owl:Class HP:0011680 biolink:NamedThing Single ventricle of indeterminate morphology hp0009lx5z peter 2012-04-10T08:02:28Z UMLS:C4023233 human_phenotype owl:Class HP:0010733 biolink:NamedThing Naevus flammeus of the eyelid Naevus flammeus localised in the skin of the eyelid. hp0009lx5z Port-wine stain on eyelid doelkens 2010-04-21T05:18:41Z UMLS:C1854409 human_phenotype owl:Class HP:0007343 biolink:NamedThing Abnormal morphology of the limbic system Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. hp0009lx5z Limbic malformation UMLS:C1863392 human_phenotype owl:Class HP:0001495 biolink:NamedThing Carpal osteolysis Osteolysis affecting carpal bones. hp0009lx5z Carpal bone osteolysis UMLS:C1833734 human_phenotype owl:Class HP:0007098 biolink:NamedThing Paroxysmal choreoathetosis Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. hp0009lx5z Choreoathetosis, intermittent|Choreoathetosis, episodic HP:0002351 UMLS:C1851936|SNOMEDCT_US:49949003 human_phenotype owl:Class HP:0001266 biolink:NamedThing Choreoathetosis Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). hp0009lx5z Choreoathetoid movements HP:0006811|HP:0007337|HP:0007028|HP:0002469 UMLS:C0085583|SNOMEDCT_US:43105007|UMLS:C0234967 human_phenotype owl:Class HP:0004609 biolink:NamedThing Patchy distortion of vertebrae hp0009lx5z UMLS:C4025305 human_phenotype owl:Class HP:0010129 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the hallux hp0009lx5z Cone-shaped end part of the innermost bone of the big toe doelkens 2009-05-29T01:22:23Z UMLS:C4024030 human_phenotype owl:Class HP:0009351 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger. hp0009lx5z Irregular end part of innermost long bone of the middle finger doelkens 2009-01-12T11:19:03Z UMLS:C4024418 human_phenotype owl:Class HP:0010742 biolink:NamedThing Edema of the upper limbs An abnormal accumulation of fluid beneath the skin of the arms. hp0009lx5z Fluid accumulation in upper limbs|Oedema of the upper limbs doelkens 2010-04-22T02:17:15Z SNOMEDCT_US:102558002|UMLS:C0522035 human_phenotype owl:Class HP:0032430 biolink:NamedThing Increased HDL3b concentration An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. hp0009lx5z 2019-03-02 13:51:08+00:00 peter owl:Class HP:0032323 biolink:NamedThing Periodic fever Episodic fever that recurs at regular intervals. hp0009lx5z 2019-02-14 11:54:22+00:00 peter owl:Class HP:0030811 biolink:NamedThing Tongue pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue. hp0009lx5z Painful tongue UMLS:C0017672|SNOMEDCT_US:30731004|MSH:D005926 owl:Class HP:0010214 biolink:NamedThing Contracture of the interphalangeal joint of the hallux The interphalangeal joint of the big toe cannot be straightened actively or passively. hp0009lx5z doelkens 2009-06-02T01:45:34Z UMLS:C4023967 human_phenotype owl:Class HP:0002332 biolink:NamedThing Lack of peer relationships hp0009lx5z Lack of peer relationships UMLS:C1845337 human_phenotype owl:Class HP:0011921 biolink:NamedThing Exudative pleural effusion A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. hp0009lx5z Transudates result from pneumonia, malignancy, thromboembolism, and other causes. peter 2012-06-08T07:35:47Z SNOMEDCT_US:13841000119107|UMLS:C3887491 human_phenotype owl:Class HP:0006026 biolink:NamedThing Rounded epiphyses hp0009lx5z Rounded end part of bone UMLS:C1850632 human_phenotype owl:Class HP:0100395 biolink:NamedThing Short proximal phalanx of the 3rd toe Abnormal reduction in length of proximal phalanx of third toe. hp0009lx5z Short proximal phalanx of the third toe|Hypoplastic/small proximal phalanx of the 3rd toe UMLS:C4021002 human_phenotype owl:Class HP:0025223 biolink:NamedThing Triggered by smoking Applies to a sign or symptom that is provoked or brought about by smoking. hp0009lx5z Triggered by smoking|Smoking triggered symptoms|Triggered by tobacco use|Triggered by cigarette consumption 2016-12-10 14:07:58+00:00 HPO:probinson owl:Class HP:0011237 biolink:NamedThing Broad inferior crus of antihelix Increased width of the inferred cross-section of the inferior crus. hp0009lx5z Antihelix, inferior crus, broad This finding is highly variable. The inferior crus is usually sharply folded giving a narrow profile. peter 2011-12-18T10:46:34Z UMLS:C4021196 human_phenotype owl:Class HP:0030790 biolink:NamedThing Abnormal cerumen color An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. hp0009lx5z Abnormal cerumen colour|Abnormal cerumen pigmentation UMLS:C4280768 owl:Class HP:0001896 biolink:NamedThing Reticulocytopenia A reduced number of reticulocytes in the peripheral blood. hp0009lx5z UMLS:C0858867|SNOMEDCT_US:124961001 human_phenotype owl:Class HP:0004361 biolink:NamedThing Abnormality of circulating leptin level An abnormal concentration of leptin in the blood. hp0009lx5z peter 2008-03-17T03:37:00Z UMLS:C4025339 human_phenotype owl:Class HP:0006035 biolink:NamedThing Cone-shaped epiphyses of phalanges 2 to 5 hp0009lx5z Cone-shaped end part of digital bones 2 to 5 UMLS:C1857005 human_phenotype owl:Class HP:0011211 biolink:NamedThing EEG with photoparoxysmal response grade I Occurrence of epileptiform discharges in occipital regions during photic stimulation. hp0009lx5z peter 2011-11-19T12:59:07Z UMLS:C4023464 human_phenotype owl:Class HP:0010852 biolink:NamedThing EEG with photoparoxysmal response EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. hp0009lx5z Photoparoxysmal response on EEG In some patients, seizures can be provoked by specific external factors (reflex epilepsy), including flickering lights and patterns. These patients commonly show epileptiform discharges in the EEG when stimulated with flashing lights, black and white striped patterns and television. These evoked EEG abnormalities are called photoparoxysmal responses. peter 2010-07-11T08:10:17Z HP:0001330 UMLS:C3552821 human_phenotype owl:Class HP:0020140 biolink:NamedThing History of recent tick bite Medical history of a recent bite injury due to a tick. hp0009lx5z robinp 2019-07-05 17:48:14+00:00 owl:Class HP:0020139 biolink:NamedThing History of recent insect bite Medical history of a recent bite injury due to an insect. hp0009lx5z robinp 2019-07-05 17:46:38+00:00 owl:Class HP:0032527 biolink:NamedThing Inferiorly positioned umbilicus The position of the umbilicus (belly button) is abnormally low (inferior). hp0009lx5z Low set umbilicus|Low-set umbilicus 2019-05-26 11:50:43+00:00 peter owl:Class HP:0006559 biolink:NamedThing Hepatic calcification The presence of abnormal calcium deposition in the liver. hp0009lx5z Liver calcifications UMLS:C1696466 human_phenotype owl:Class HP:0010328 biolink:NamedThing Polydactyly affecting the 2nd toe hp0009lx5z doelkens 2009-07-16T11:40:18Z UMLS:C4023901 human_phenotype owl:Class HP:0100781 biolink:NamedThing Abnormal sacroiliac joint morphology An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). hp0009lx5z Abnormality of the sacroiliac joint The sacroiliac joint (SIJ) is a true diarthrodial joint: matching articular surfaces separated by a joint space containing synovial fluid and enveloped by a fibrous capsule. It does, however, have unique characteristics not typically found in other diarthrodial joints. The SIJ has fibrocartilage in addition to hyaline cartilage. There is discontinuity of the posterior capsule. Rather than being smooth, the articular surfaces have many ridges and depressions that minimize movement and enhance stability. Primary stability, however, is attributed to the many adjacent ligaments. doelkens 2011-06-07T05:52:24Z UMLS:C0262621 owl:Class HP:0410377 biolink:NamedThing Decreased proportion of naive CD8 T cells An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells. hp0009lx5z Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells|Reduced proportion of naive CD8 T cells owl:Class HP:0031397 biolink:NamedThing Decreased proportion of naive T cells An abnormally decreased proportion of naive T cells relative to the total number of T cells. hp0009lx5z Decreased proportion of naive thymus-derived, alpha-beta T cells|Reduced proportion of naive T cells 2017-09-03 12:53:09+00:00 peter owl:Class HP:0000939 biolink:NamedThing Osteoporosis Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). hp0009lx5z Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. HP:0002774 SNOMEDCT_US:64859006|MSH:D010024|UMLS:C0029456 human_phenotype owl:Class HP:0008988 biolink:NamedThing Pelvic girdle muscle atrophy Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). hp0009lx5z Pelvic girdle muscle wasting HP:0008992 UMLS:C0240679 human_phenotype owl:Class HP:0008161 biolink:NamedThing Absent leukocyte alkaline phosphatase Alkaline phosphatase levels measured within leukocytes is below detectable levels. hp0009lx5z Absent leukocyte ALP UMLS:C4024724 human_phenotype owl:Class HP:0004852 biolink:NamedThing Reduced leukocyte alkaline phosphatase Decreased alkaline phosphatase measured within leukocytes. hp0009lx5z Low leukocyte alkaline phosphatase|Reduced leukocyte ALP UMLS:C1850780 human_phenotype owl:Class HP:0008198 biolink:NamedThing Congenital hypoparathyroidism Deficiency of parathyroid hormone with congenital onset. hp0009lx5z Neonatal hypoparathyroidism HP:0008199|HP:0008201 UMLS:C1455734 human_phenotype owl:Class HP:0004916 biolink:NamedThing Generalized distal tubular acidosis hp0009lx5z Generalised distal tubular acidosis UMLS:C4025275 human_phenotype owl:Class HP:0008341 biolink:NamedThing Distal renal tubular acidosis A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. hp0009lx5z Renal tubular acidosis, type I UMLS:C1704380|MSH:D000141|SNOMEDCT_US:86210009|SNOMEDCT_US:236461000 human_phenotype owl:Class HP:0031501 biolink:NamedThing Pelvic mass An abnormal enlargement or swelling in the pelvic region. hp0009lx5z 2017-09-18 01:03:03+00:00 peter owl:Class HP:0045014 biolink:NamedThing Hypolipidemia hp0009lx5z HPO:skoehler SNOMEDCT_US:238090007|UMLS:C0342892 owl:Class HP:0009196 biolink:NamedThing Absent metacarpal epiphyses Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals. hp0009lx5z Absent metacarpal ossification centre|Absent metacarpal ossification center|Absent end part of the long bone of hand doelkens 2008-12-30T02:03:34Z HP:0006013 UMLS:C4021513 human_phenotype owl:Class HP:0010942 biolink:NamedThing Echogenic intracardiac focus A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart. hp0009lx5z An echogenic intracardiac focus (EIF) is generally believed to be a normal variant, observed in 5% of all fetuses during second trimester sonography, but the risk of aneuploidies such as Down syndrome is increased in fetuses with EIF. peter 2011-01-16T02:52:26Z UMLS:C4023634 human_phenotype owl:Class HP:0006266 biolink:NamedThing Small placenta Reduced size of the placenta. hp0009lx5z Small placenta SNOMEDCT_US:289264006|UMLS:C0566694 human_phenotype owl:Class HP:0030032 biolink:NamedThing Partial absence of foot An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. hp0009lx5z Partial absence of foot UMLS:C4022666 owl:Class HP:0005084 biolink:NamedThing Anterior radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction. hp0009lx5z Anterior dislocation of radial head UMLS:C2674451 human_phenotype owl:Class HP:0032261 biolink:NamedThing Nontuberculous mycobacterial pulmonary infection An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. hp0009lx5z 2019-01-27 18:38:45+00:00 Historically, human infections due to Mycobacterium were due almost exclusively to Mycobacterium tuberculosis (TB); the extensive societal impact of this infection is legendary. More recently, other species of mycobacterium causing clinical disease have been identified and, in many geographical regions, cause greater disease burden than TB. These organisms are referred to by a variety of collective names such as anonymous or atypical mycobacteria, mycobacteria other than tuberculosis (MOTT) and nontuberculous mycobacteria (NTM). peter owl:Class HP:0033265 biolink:NamedThing Podocyte myelin figures Lamellated intracytoplasmic lipid inclusions within podocytes. hp0009lx5z Podocyte myelin inclusions 2020-11-28 15:14:49+00:00 peter owl:Class HP:3000008 biolink:NamedThing Abnormality of mylohyoid muscle An abnormality of a mylohyoid muscle. hp0009lx5z vasilevs 2015-02-26T03:43:17Z UMLS:C4073217 human_phenotype owl:Class HP:0410013 biolink:NamedThing Abnormality of the submandibular region Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. hp0009lx5z UMLS:C4073192 owl:Class HP:0002748 biolink:NamedThing Rickets Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. hp0009lx5z Weak and soft bones UMLS:C0035579|SNOMEDCT_US:41345002|MSH:D012279 human_phenotype owl:Class HP:0005172 biolink:NamedThing Left posterior fascicular block Conduction block in the posterior division of the left bundle branch of the bundle of His. hp0009lx5z Left posterior hemiblock UMLS:C0264913|SNOMEDCT_US:62026008 human_phenotype owl:Class HP:0011713 biolink:NamedThing Left bundle branch block A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. hp0009lx5z peter 2012-04-11T08:04:34Z MSH:D002037|SNOMEDCT_US:63467002|UMLS:C0023211 human_phenotype owl:Class HP:0011674 biolink:NamedThing Cardiac teratoma A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone. hp0009lx5z peter 2012-04-09T12:33:29Z NCIT:C3403|UMLS:C1112387 owl:Class HP:0009905 biolink:NamedThing Thin ear helix Decreased thickness of the helix of the ear. hp0009lx5z peter 2009-05-01T02:50:35Z UMLS:C4024164 human_phenotype owl:Class HP:0032472 biolink:NamedThing Abnormal urine urobilinogen level An abnormal concentration of urobilinogen in the urine. hp0009lx5z 2019-04-09 11:53:12+00:00 peter owl:Class HP:0012756 biolink:NamedThing CSF polymorphonuclear pleocytosis An increased polymorphonuclear cell count in the cerebrospinal fluid. hp0009lx5z peter 2014-04-02T01:07:51Z UMLS:C4022740 human_phenotype owl:Class HP:0012229 biolink:NamedThing CSF pleocytosis An increased white blood cell count in the cerebrospinal fluid. hp0009lx5z Increased leukocyte count in CSF|Cerebrospinal fluid pleocytosis peter 2013-03-31T09:01:55Z SNOMEDCT_US:91454002|MSH:D007964|UMLS:C0151857 human_phenotype owl:Class HP:0025564 biolink:NamedThing Anterior chamber cells grade 2+ Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp0009lx5z 2017-12-14 13:21:53+00:00 HPO:probinson owl:Class HP:0000592 biolink:NamedThing Blue sclerae An abnormal bluish coloration of the sclera. hp0009lx5z Blue sclera|Blue outer white part of eyeball|Bluish sclerae|Whites of eyes are a bluish-gray colour|Whites of eyes are a bluish-gray color UMLS:C0542514|SNOMEDCT_US:204164000 human_phenotype owl:Class HP:0030397 biolink:NamedThing Abnormal platelet dense granule secretion Abnormal release of dense granules from platelets. hp0009lx5z Dense granules contain adenosine diphosphate, adenosine triphosphate, ionized calcium, histamine and serotonin. UMLS:C4072930 owl:Class HP:0030396 biolink:NamedThing Abnormal platelet granule secretion Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. hp0009lx5z UMLS:C4072929 owl:Class HP:0030077 biolink:NamedThing Bronchial neoplasm A tumor originating in a bronchus. hp0009lx5z MSH:D001984|NCIT:C3262|SNOMEDCT_US:126705004|UMLS:C0006264 owl:Class HP:0002829 biolink:NamedThing Arthralgia Joint pain. hp0009lx5z Arthritic pain|Joint pain|Joint pains|Arthralgias Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. UMLS:C0003862|SNOMEDCT_US:57676002|MSH:D018771 owl:Class HP:0010483 biolink:NamedThing Amniotic constriction rings of arms Amniotic constriction rings affecting the arms. hp0009lx5z peter 2009-09-16T09:15:05Z UMLS:C4023809 human_phenotype owl:Class HP:0012239 biolink:NamedThing Atransferrinemia Absence of transferrin, a protein that transports iron, in the blood. hp0009lx5z peter 2013-03-31T04:20:43Z UMLS:C0521802|SNOMEDCT_US:111571009|MSH:C538259 human_phenotype owl:Class HP:0008072 biolink:NamedThing Maternal virilization in pregnancy Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. hp0009lx5z UMLS:C4024735 human_phenotype owl:Class HP:0025498 biolink:NamedThing Aceruloplasminemia Absence of ceruloplasmin in the blood. hp0009lx5z Aceruloplasminaemia 2017-05-14 20:03:35+00:00 HPO:probinson owl:Class HP:0011772 biolink:NamedThing Abnormal thyroid morphology A structural abnormality of the thyroid gland. hp0009lx5z Abnormal shape of thyroid gland|Abnormality of thyroid morphology peter 2012-04-22T05:54:57Z UMLS:C4023195 owl:Class HP:0033297 biolink:NamedThing Multinucleated visceral epithelial cells Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. hp0009lx5z Multinucleated podocytes|Podocyte multinucleation 2020-11-28 21:38:10+00:00 peter owl:Class HP:0500061 biolink:NamedThing Retinopathy of prematurity zone III Retinopathy which is a residual crescent of retina anterior to zone II. hp0009lx5z ROP zone III 2018-02-19 19:53:11+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0100581 biolink:NamedThing Dilatation of renal calices An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. hp0009lx5z Caliceal dilatation|Caliectasis|Megacalicosis doelkens 2010-12-27T02:44:04Z UMLS:C4022019 human_phenotype owl:Class HP:0006268 biolink:NamedThing Fluctuating splenomegaly Intermittently increased size of the spleen. hp0009lx5z UMLS:C1835882 human_phenotype owl:Class HP:0033790 biolink:NamedThing Thistle tube shaped pulp A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations. hp0009lx5z Flame-shaped pulp 2021-05-07 11:14:26+00:00 peter owl:Class HP:0006479 biolink:NamedThing Abnormal dental pulp morphology An abnormality of the dental pulp. hp0009lx5z Abnormality of the dental pulp|Endodontic abnormality|Abnormality of tooth pulp peter 2008-03-28T04:46:00Z UMLS:C4025042 owl:Class HP:0012472 biolink:NamedThing Eclabion A turning outward of the lip or lips, that is, eversion of the lips. hp0009lx5z Everted lips|Eclabium|Outward turned lips peter 2013-11-26T10:20:23Z UMLS:C3550430 human_phenotype owl:Class HP:0031513 biolink:NamedThing Luse bodies Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands. hp0009lx5z 2017-09-22 01:34:13+00:00 The periodicity of normal collagen fibers is substantially lower than that of Luse bodies. peter owl:Class HP:0008883 biolink:NamedThing Mild intrauterine growth retardation Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. hp0009lx5z Mild prenatal growth deficiency HP:0008861 UMLS:C1840006 human_phenotype owl:Class HP:0430011 biolink:NamedThing Defect of palpebral conjunctiva An abnormality of the palpebral conjunctiva. hp0009lx5z UMLS:C4021868 owl:Class HP:0008346 biolink:NamedThing Increased red cell sickling tendency hp0009lx5z Increased sickling of erythrocytes|Increased sickling of red cells UMLS:C4024695 human_phenotype owl:Class HP:0011895 biolink:NamedThing Anemia due to reduced life span of red cells A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. hp0009lx5z Anaemia due to reduced life span of red cells peter 2012-06-03T09:26:17Z UMLS:C4021112 human_phenotype owl:Class HP:0010697 biolink:NamedThing Anterior pyramidal cataract A type of anterior polar cataract which projects as a conical opacity into the anterior chamber. hp0009lx5z Pyramidal cataract peter 2010-03-20T02:38:57Z UMLS:C1392099 human_phenotype owl:Class HP:0001134 biolink:NamedThing Anterior polar cataract A polar cataract that affects the anterior pole of the lens. hp0009lx5z Polar cataract, anterior UMLS:C1855179|MSH:C538282 human_phenotype owl:Class HP:0100704 biolink:NamedThing Cerebral visual impairment A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. hp0009lx5z Cortical/cerebral visual impairment|Cortical blindness|CVI|Cortical visual impairment The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation. doelkens 2011-03-31T01:03:21Z HP:0000595 UMLS:C0155320|UMLS:C4048268|SNOMEDCT_US:413924001|MSH:D019575|SNOMEDCT_US:68574006 owl:Class HP:0500024 biolink:NamedThing Aplasia of the musculature of the pelvis Absence of the musculature of the pelvis. hp0009lx5z 2017-05-25 16:51:46+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0004000 biolink:NamedThing Cone-shaped distal radial epiphysis The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance. hp0009lx5z Chevron-shaped distal radial epiphysis The phrase chevron-shaped (having the shape of a V or an inverted V) is synonymous. HP:0003975 UMLS:C4025457 human_phenotype owl:Class HP:0100837 biolink:NamedThing Atrophodermia vermiculata Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions. hp0009lx5z Vermiculata atrophoderma The onset of atrophodermia vermiculata is usually between the ages of 5 and 12 years. doelkens 2011-06-09T06:20:04Z SNOMEDCT_US:400059005|MSH:C537412|UMLS:C0263428|SNOMEDCT_US:400126005 human_phenotype owl:Class HP:0032687 biolink:NamedThing Focal cognitive seizure with memory impairment A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia). hp0009lx5z Amnestic seizure|Amnestic aura www.epilepsydiagnosis.org focuses on anterograde amnesia during the seizure. Both ictal retrograde and anterograde amnesia have been included here given that they are well studied as ictal manifestations of 'transient epileptic amnesia'. The clinical onset of these seizures is defined by questions indicating ictal retrograde amnesia, often because of disorientation. Ictal anterograde amnesia is incomplete in many individuals with transient epileptic amnesia: half at least partly recall 'not being able to remember' during seizures. peter owl:Class HP:0005346 biolink:NamedThing Abnormal facial expression hp0009lx5z Abnormal facial expression peter 2008-03-26T06:44:00Z UMLS:C4025209 human_phenotype owl:Class HP:0032198 biolink:NamedThing Decreased prothrombin time Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. hp0009lx5z Decreased international normalized ratio|Decreased international normalised ratio|Decreased PT|Decreased INR 2019-01-19 15:32:55+00:00 peter owl:Class HP:0032199 biolink:NamedThing Abnormal prothrombin time Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. hp0009lx5z Abnormal PT 2019-01-19 15:34:30+00:00 peter owl:Class HP:0031493 biolink:NamedThing Glandular cell neoplasm A tumor that arises from a gland cell. hp0009lx5z 2017-09-18 00:42:25+00:00 peter owl:Class HP:0004601 biolink:NamedThing Spina bifida occulta at L5 The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin. hp0009lx5z UMLS:C4025308 human_phenotype owl:Class HP:0003309 biolink:NamedThing Ovoid thoracolumbar vertebrae hp0009lx5z Ovoid thoracic and lumbar vertebrae UMLS:C1868556 human_phenotype owl:Class HP:0003300 biolink:NamedThing Ovoid vertebral bodies When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. hp0009lx5z Oval vertebral bodies|Ovoid-shaped vertebral bodies|Bullet vertebral body|Ovoid vertebrae HP:0004559 UMLS:C4020844|UMLS:C1855665 human_phenotype owl:Class HP:0010316 biolink:NamedThing Ebstein anomaly of the tricuspid valve Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. hp0009lx5z Ebstein's anomaly of the tricuspid valve|Ebstein's malformation|Ebstein's anomaly Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias. peter 2009-07-14T11:12:07Z HP:0006674 ICD-10:Q22.5|UMLS:C0013481|EPCC:06.01.34|MSH:D004437|SNOMEDCT_US:204357006 human_phenotype owl:Class HP:0032143 biolink:NamedThing Burning mouth An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa. hp0009lx5z 2018-11-22 15:36:33+00:00 This term implies that there is no obvious oral mucosal lesion causing the pain. peter owl:Class HP:0010151 biolink:NamedThing Cone-shaped epiphysis of the 1st metatarsal A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot. hp0009lx5z Cone-shaped end part of the 1st long bone of foot doelkens 2009-05-29T01:24:17Z UMLS:C4024008 human_phenotype owl:Class HP:0006048 biolink:NamedThing Distal widening of metacarpals Abnormal increase in width of the distal region of the metacarpal bones. hp0009lx5z Wide outermost end of long bone UMLS:C1865254 human_phenotype owl:Class HP:0004898 biolink:NamedThing Persistent lactic acidosis A continuous form of lactic acidemia. hp0009lx5z UMLS:C3554538 human_phenotype owl:Class HP:0008028 biolink:NamedThing Cystoid macular degeneration A form of macular degeneration characterized by the presence of multiple cysts in the macula. hp0009lx5z Cystic macular degeneration HP:0007673 SNOMEDCT_US:14046000|UMLS:C0154850 human_phenotype owl:Class HP:0009236 biolink:NamedThing Rhomboid or triangular shaped 5th finger proximal phalanx Rhomboid or triangular shaped 5th (little) finger proximal phalanx. hp0009lx5z Rhomboid or triangular shaped innermost bone of pinkie finger|Rhomboid or triangular shaped innermost bone of pinky finger|Rhomboid or triangular shaped innermost bone of little finger doelkens 2009-01-05T06:20:38Z UMLS:C4024509 human_phenotype owl:Class HP:0009233 biolink:NamedThing Triangular shaped proximal phalanx of the 5th finger Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped innermost little finger bone|Triangular shaped innermost pinky finger bone|Triangular shaped innermost pinkie finger bone doelkens 2009-01-05T06:11:33Z UMLS:C4024511 human_phenotype owl:Class HP:0012688 biolink:NamedThing Abnormality of pineal physiology A functional abnormality of the pineal gland. hp0009lx5z peter 2014-03-22T01:15:36Z UMLS:C4022778 human_phenotype owl:Class HP:0001305 biolink:NamedThing Dandy-Walker malformation A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. hp0009lx5z Dandy-Walker cyst|Dandy-walker anomaly HP:0001313|HP:0006809 UMLS:C0010964|SNOMEDCT_US:14447001|MSH:D003616 owl:Class HP:0004763 biolink:NamedThing Paroxysmal supraventricular tachycardia An episodic form of supraventricular tachycardia with abrupt onset and termination. hp0009lx5z Episodic rapid heart beat|Episodic supraventricular tachycardia PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT). HP:0004765 UMLS:C0030590|UMLS:C4280507|SNOMEDCT_US:67198005 human_phenotype owl:Class HP:4000006 biolink:NamedThing Elevated myocardial native T1 Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity. hp0009lx5z Prolonged myocardial native T1 2021-04-24 16:47:52+00:00 robinp owl:Class HP:0008677 biolink:NamedThing Congenital nephrotic syndrome Nephrotic syndrome with onset within the first three months of life. hp0009lx5z Congenital nephrosis SNOMEDCT_US:48796009|UMLS:C3501848|MSH:C535761 human_phenotype owl:Class HP:0410190 biolink:NamedThing Decreased glucose-6-phosphate dehydrogenase level in leukocytes A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes. hp0009lx5z Decreased G6PD level in leukocytes 2018-05-21 18:04:02+00:00 owl:Class HP:0410183 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level in leukocytes An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes. hp0009lx5z Abnormal G6PD level in leukocytes 2018-05-21 18:00:54+00:00 owl:Class HP:3000078 biolink:NamedThing Abnormal mandible coronoid process morphology An abnormality of a mandible coronoid process. hp0009lx5z Abnormality of mandible coronoid process vasilevs 2015-08-07T03:39:24Z UMLS:C4073285 human_phenotype owl:Class HP:0000064 biolink:NamedThing Hypoplastic labia minora hp0009lx5z Underdeveloped inner lips UMLS:C1849295 owl:Class HP:0012880 biolink:NamedThing Abnormal labia minora morphology An anomaly of the labia minora, the folds of skin between the outer labia. hp0009lx5z Abnormality of the labia minora|Abnormality of the inner vaginal lips 2014-06-11T07:44:31Z UMLS:C4022696 owl:Class HP:0007486 biolink:NamedThing Cavernous hemangioma of the face hp0009lx5z UMLS:C1332863|NCIT:C3086 human_phenotype owl:Class HP:0031287 biolink:NamedThing Seborrheic keratosis A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look. hp0009lx5z Basal cell papilloma|Seborrheic verruca|Senile wart 2017-08-13 20:33:04+00:00 Seborrheic keratosis is a benign lesion of the skin that occurs more frequently in sunlight exposed areas. The lesions can appear anywhere on the body, but most often occur on the face, chest, and back. There may be just one or clusters of dozens. peter owl:Class HP:0033863 biolink:NamedThing Abnormal cortical peritubular capillary lumen morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. hp0009lx5z 2021-06-23 17:44:05+00:00 peter owl:Class HP:0010453 biolink:NamedThing Pelvic bone asymmetry Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology. hp0009lx5z Pelvic asymmetry|Asymmetric pelvis peter 2009-09-14T11:01:50Z UMLS:C4021263 human_phenotype owl:Class HP:0003979 biolink:NamedThing Lytic defects of the radius hp0009lx5z UMLS:C4021841 human_phenotype owl:Class HP:0003826 biolink:NamedThing Stillbirth Death of the fetus in utero after at least 20 weeks of gestation. hp0009lx5z Stillborn|Fetal death|Foetal death|Stillbirth HP:0001624|HP:0001625 SNOMEDCT_US:276507005|UMLS:C0595939|UMLS:C0015927|MSH:D005313|SNOMEDCT_US:237364002|MSH:D050497 owl:Class HP:0004798 biolink:NamedThing Recurrent infection of the gastrointestinal tract Recurrent infection of the gastrointestinal tract. hp0009lx5z Gastrointestinal infections, recurrent|Gastrointestinal infections|Recurrent gastrointestinal infections|Recurrent infection of the gastrointestinal tract|Recurrent infection of the GI tract UMLS:C4082764|UMLS:C1854495|SNOMEDCT_US:715852004 human_phenotype owl:Class HP:0031449 biolink:NamedThing Perineal hemangioma Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals. hp0009lx5z 2017-09-17 14:49:42+00:00 peter owl:Class HP:0012665 biolink:NamedThing Moderately reduced ejection fraction A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. hp0009lx5z The normal range in adults is over 50 percent, and a moderate reduction can be defined as 30-39 percent. peter 2014-02-15T01:08:33Z UMLS:C4022791 human_phenotype owl:Class HP:0012664 biolink:NamedThing Reduced ejection fraction A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. hp0009lx5z The normal range is at least 55 percent. peter 2014-02-15T01:03:37Z UMLS:C4022792 human_phenotype owl:Class HP:0410051 biolink:NamedThing Increased level of 3-hydroxy-3-methylglutaric acid in urine An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. hp0009lx5z 2018-01-27 01:26:32+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0032222 biolink:NamedThing Serrated intestinal polyps The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification. hp0009lx5z Serrated polyposis 2019-01-21 01:40:27+00:00 peter owl:Class HP:0011693 biolink:NamedThing Supraventricular tachycardia with a concealed accessory pathway on the septum hp0009lx5z peter 2012-04-10T10:38:07Z UMLS:C4023228 human_phenotype owl:Class HP:0012192 biolink:NamedThing Cutaneous T-cell lymphoma A type of T-cell lymphoma that exhibits malignant infiltration of the skin. hp0009lx5z peter 2013-02-27T07:03:19Z UMLS:C0079773|SNOMEDCT_US:28054005|SNOMEDCT_US:400122007|MSH:D016410 human_phenotype owl:Class HP:0032541 biolink:NamedThing Knuckle pad Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. hp0009lx5z Knuckle pads on dorsal aspect of finger joints 2019-05-27 15:11:27+00:00 Knuckle pads can be associated with camptodactyly (fixed flexion deformity of the interphalangeal joints of the little finger) as overlapping symptoms and are associated with many genetic factors. Although they can be associated to repetitive local trauma (for example repetitive batting of the knuckles, e.g. by boxers or suction the fingers by children), coexist with palmar (Dupuytren disease) or plantar fibromatosis (Ledderhose disease) or Peyronie disease, most knuckle pads are idiopathic. peter owl:Class HP:0031352 biolink:NamedThing Chest tightness An unpleasant sensation of tightness or pressure in the chest. hp0009lx5z Chest distress|Tightness of chest|Tightness in chest 2017-08-27 14:49:28+00:00 peter owl:Class HP:0006440 biolink:NamedThing Increased density of long bone diaphyses hp0009lx5z Increased density of shaft of long bone UMLS:C1844516 human_phenotype owl:Class HP:0007738 biolink:NamedThing Uncontrolled eye movements hp0009lx5z UMLS:C1854686 human_phenotype owl:Class HP:0009709 biolink:NamedThing Increased CSF interferon alpha Increased concentration of interferon alpha in the cerebrospinal fluid (CSF). hp0009lx5z peter 2009-01-30T06:27:06Z UMLS:C1856983 human_phenotype owl:Class HP:0025261 biolink:NamedThing Stiff finger A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity. hp0009lx5z Stiff finger|Finger stiffness 2016-12-18 01:13:47+00:00 HPO:probinson owl:Class HP:0011574 biolink:NamedThing Imperforate atrioventricular valve An atrioventricular valve that has failed to open (atretic). hp0009lx5z Unopened atrioventricular valve peter 2012-04-08T10:35:25Z UMLS:C4023293 human_phenotype owl:Class HP:0006169 biolink:NamedThing Decreased mobility 3rd-5th fingers hp0009lx5z Decreased mobility 3rd-5th fingers UMLS:C1833882 human_phenotype owl:Class HP:0003916 biolink:NamedThing Normal-density transverse humeral bands hp0009lx5z Normal-density transverse bands of the humerus UMLS:C4025511 human_phenotype owl:Class HP:0012180 biolink:NamedThing Cystic medial necrosis A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells. hp0009lx5z Arterial cystic medial necrosis The lesions of cystic medial necrosis are not true cysts. peter 2013-02-23T10:17:16Z HP:0200145 SNOMEDCT_US:45894003|MSH:C536230|UMLS:C0392775|SNOMEDCT_US:42182000|SNOMEDCT_US:234021009 human_phenotype owl:Class HP:0100689 biolink:NamedThing Decreased corneal thickness A decreased anteroposterior thickness of the cornea. hp0009lx5z Thin cornea doelkens 2011-02-18T04:40:41Z UMLS:C1096274|SNOMEDCT_US:423459005 human_phenotype owl:Class HP:0011486 biolink:NamedThing Abnormality of corneal thickness An abnormal anteroposterior thickness of the cornea. hp0009lx5z peter 2012-04-02T10:15:01Z UMLS:C4023333 human_phenotype owl:Class HP:0500045 biolink:NamedThing Collier's sign A unilateral or bilateral eyelid retraction due to midbrain lesions. hp0009lx5z 2018-02-05 16:48:13+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0003213 biolink:NamedThing Deficient excision of UV-induced pyrimidine dimers in DNA hp0009lx5z UMLS:C4025640 human_phenotype owl:Class HP:0002859 biolink:NamedThing Rhabdomyosarcoma hp0009lx5z SNOMEDCT_US:30924005|NCIT:C3359|MSH:D012208|UMLS:C0035412|SNOMEDCT_US:302847003 human_phenotype owl:Class HP:0009728 biolink:NamedThing Neoplasm of striated muscle A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle. hp0009lx5z Tumors of striated muscle|Tumours of striated muscle peter 2009-01-31T10:52:25Z UMLS:C4021396|NCIT:C3262 human_phenotype owl:Class HP:0100445 biolink:NamedThing Curved middle phalanx of the 5th toe A deviation from the normal straight form of the middle phalanx of the fifth toe. hp0009lx5z Curved middle bone of little toe|Curved middle bone of pinky toe|Curved middle bone of pinkie toe UMLS:C4022082 human_phenotype owl:Class HP:0010197 biolink:NamedThing Curved middle toe phalanx A deviation from the normal straight form of one or more middle toe phalanges. hp0009lx5z Curved middle bones of the toes|Curved middle phalanges of the toes doelkens 2009-05-29T01:53:35Z UMLS:C4021320 human_phenotype owl:Class HP:0032603 biolink:NamedThing Renal tubular epithelial cell simplification Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. hp0009lx5z peter owl:Class HP:0006432 biolink:NamedThing Trapezoidal distal femoral condyles hp0009lx5z UMLS:C1843983 owl:Class HP:0009483 biolink:NamedThing Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal. hp0009lx5z Fused innermost bones of middle finger with middle long bone of hand doelkens 2009-01-15T10:29:08Z UMLS:C4024339 human_phenotype owl:Class HP:0006533 biolink:NamedThing Bronchodysplasia hp0009lx5z UMLS:C4025025 human_phenotype owl:Class HP:0003378 biolink:NamedThing Axonal degeneration/regeneration A pattern of simultaneous degeneration and regeneration of axons (see comment). hp0009lx5z Axon degeneration and regeneration This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibres from the proximal nerve segment. UMLS:C1968790 human_phenotype owl:Class HP:0011755 biolink:NamedThing Ectopic posterior pituitary An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. hp0009lx5z Ectopic neurohypophysis peter 2012-04-22T01:43:25Z SNOMEDCT_US:715727009|UMLS:C3279571|UMLS:C4053775 human_phenotype owl:Class HP:0410136 biolink:NamedThing Aquagenic urticaria A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin. hp0009lx5z 2018-03-02 19:52:44+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0002419 biolink:NamedThing Molar tooth sign on MRI An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. hp0009lx5z Molar tooth sign|'molar tooth sign' on brain imaging'|'molar tooth' sign on imaging Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern. UMLS:C1865060 human_phenotype owl:Class HP:0011759 biolink:NamedThing Pituitary gonadotropic cell adenoma A type of pituitary adenoma that produces gonadotropins. hp0009lx5z Pituitary gonadotropinoma peter 2012-04-22T03:37:35Z UMLS:C4021122 human_phenotype owl:Class HP:0011088 biolink:NamedThing Dens in dente An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth. hp0009lx5z Dens invaginatus|Tooth within a tooth Dens in dente is Latin for tooth inside of tooth. Dens in dente results from an invagination of the enamel organ into the dental papilla, extending into the root before initiation of mineralization. The permanent maxillary lateral incisors are the most frequently involved teeth, but it can occur in any tooth type. It occurs more frequently in the permanent dentition and in maxillary teeth. The diagnosis dens in dente needs to be confirmed by X-rays. peter 2011-03-11T02:07:28Z UMLS:C0011320|MSH:D003719|SNOMEDCT_US:55197001 owl:Class HP:0005506 biolink:NamedThing Chronic myelogenous leukemia A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. hp0009lx5z Chronic myeloid leukaemia|Chronic myelocytic leukaemia|Chronic myelocytic leukemia|Chronic myeloid leukemia|Chronic myelogenous leukaemia HP:0005544 SNOMEDCT_US:92818009|SNOMEDCT_US:63364005|MSH:D015464|UMLS:C0023473|DOID:8552 human_phenotype owl:Class HP:0100516 biolink:NamedThing Neoplasm of the ureter The presence of a neoplasm of the ureter. hp0009lx5z Neoplasia of the ureters|ureter, cancer of doelkens 2010-12-20T10:35:11Z SNOMEDCT_US:363458004|SNOMEDCT_US:126882009|UMLS:C0153619|NCIT:C3262|UMLS:C0041955|MSH:D014516 human_phenotype owl:Class HP:0010786 biolink:NamedThing Urinary tract neoplasm The presence of a neoplasm of the urinary system. hp0009lx5z Urinary tract neoplasia sdoelken 2010-05-04T09:45:25Z SNOMEDCT_US:254913005|MSH:D014571|NCIT:C3262|UMLS:C0042076|SNOMEDCT_US:126879004 human_phenotype owl:Class HP:0033845 biolink:NamedThing Sense of impending doom A feeling that something life-threatening or tragic is about to occur. hp0009lx5z Sense of doom 2021-06-01 16:27:25+00:00 peter owl:Class HP:0030414 biolink:NamedThing Verrucous cell carcinoma of the tongue A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance. hp0009lx5z UMLS:C4072937 owl:Class HP:0045046 biolink:NamedThing Reduced insulin like growth factor binding protein acid labile subunit level Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits. hp0009lx5z Decreased levels of acid labile subunit|Acid-labile subunit deficiency Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene. UMLS:C3900122 owl:Class HP:0031034 biolink:NamedThing Abnormal insulin like growth factor binding protein acid labile subunit level A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier. hp0009lx5z 2017-05-27 11:20:49+00:00 Plasma IGFALS is positively associated with prostate cancer risk. peter owl:Class HP:0005384 biolink:NamedThing Defective B cell activation A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of hp0009lx5z UMLS:C1846551 human_phenotype owl:Class HP:0025611 biolink:NamedThing Epicanthus superciliaris A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye). hp0009lx5z 2018-01-13 22:58:02+00:00 HPO:probinson owl:Class HP:0004695 biolink:NamedThing Calcaneal epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus. hp0009lx5z UMLS:C1861708 human_phenotype owl:Class HP:0030997 biolink:NamedThing Atretic vas deferens Abnormal closure or blockage of the vas deferens. hp0009lx5z Atresia of the vas deferens|Vas deferens atresia 2017-05-13 14:13:29+00:00 peter owl:Class HP:0012872 biolink:NamedThing Abnormal vas deferens morphology A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct. hp0009lx5z hecht 2014-06-09T11:13:37Z UMLS:C4022697 human_phenotype owl:Class HP:0002917 biolink:NamedThing Hypomagnesemia An abnormally decreased magnesium concentration in the blood. hp0009lx5z Low blood Mg levels|Low blood magnesium levels HP:0003284 SNOMEDCT_US:190855004|UMLS:C0151723 human_phenotype owl:Class HP:0002085 biolink:NamedThing Occipital encephalocele A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. hp0009lx5z Brain tissue sticks out through back of skull|Occipital meningoencephalocele|Posterior encephalocele HP:0007357|HP:0007051 MSH:D004677|SNOMEDCT_US:42376006|UMLS:C0014067 human_phenotype owl:Class HP:0033728 biolink:NamedThing Mesangial proliferative lupus nephritis A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy. hp0009lx5z Class II lupus nephritis 2021-04-16 13:36:24+00:00 peter owl:Class HP:0033726 biolink:NamedThing Lupus nephritis Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. hp0009lx5z 2021-04-16 13:23:12+00:00 peter owl:Class HP:0025547 biolink:NamedThing Decreased mean corpuscular hemoglobin concentration A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. hp0009lx5z Decreased mean corpuscular haemoglobin concentration|Decreased mean corpuscular Hb concentration|Decreased MCHC|Decreased mean corpuscular haemoglobin|Decreased MCH 2017-07-09 12:28:40+00:00 HPO:probinson owl:Class HP:0009489 biolink:NamedThing Bracket epiphyses of the 2nd finger An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket-epiphyses of index finger|Bracket shaped end part of index finger doelkens 2009-01-16T01:07:16Z HP:0004109 UMLS:C4021466 human_phenotype owl:Class HP:0031846 biolink:NamedThing Femur fracture A break or crush injury of the thigh bone (femur). hp0009lx5z Femoral fracture 2018-05-05 15:37:43+00:00 peter MSH:D005264 owl:Class HP:0020192 biolink:NamedThing Pachygyria with 5-10 mm cortical thickness Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. hp0009lx5z robinp 2019-09-03 13:36:14+00:00 owl:Class HP:0005979 biolink:NamedThing Metabolic ketoacidosis A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake. hp0009lx5z Starvation ketoacidosis HP:0005971 UMLS:C1854704|MSH:D007662 owl:Class HP:0032094 biolink:NamedThing Increased circulating surfactant protein level An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis. hp0009lx5z Increased serum surfactant protein level 2018-11-04 10:03:02+00:00 SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. But the measure in the blood is not reliable, in this case the measurement in the broncho-alveolar lavage fluid is informative. peter owl:Class HP:0008665 biolink:NamedThing Clitoral hypertrophy Hypertrophy of the clitoris. hp0009lx5z Enlarged clitoris|Hypertrophic clitoris|Clitoral enlargement|Prominent clitoris|Clitoromegaly Increased size of the clitoris. HP:0000057|HP:0008728 SNOMEDCT_US:80212005|UMLS:C0156394 human_phenotype owl:Class HP:0040253 biolink:NamedThing Increased size of the clitoris hp0009lx5z UMLS:C4280695 owl:Class HP:0002035 biolink:NamedThing Rectal prolapse Protrusion of the rectal mucous membrane through the anus. hp0009lx5z Rectal prolapsed|Rectum protrudes through anus MEDDRA:10038077|MSH:D012005|SNOMEDCT_US:57773001|UMLS:C0034888 human_phenotype owl:Class HP:0010500 biolink:NamedThing Hyperextensibility of the knee The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh). hp0009lx5z peter 2009-09-19T09:44:04Z UMLS:C4023802 human_phenotype owl:Class HP:0030917 biolink:NamedThing Low APGAR score hp0009lx5z 2016-11-07 18:06:20+00:00 The APGAR score was developed by Dr. Virginia Apgar to quickly assess the status of newborn children. It is determined based on scoing five criteria (Appearance, Pulse, Grimace, Activity, Respiration) on a scale of zero to two each and summing the five values. A score of 7 and above is considered normal, 4 to 6 low, and 3 or less critically low. The 1-minute score is used to assess how well the neonate tolerated the birthing process, and the 5-minute score is used to assess how well the neonate is adapting to the postnatal environment. robinp owl:Class HP:0002072 biolink:NamedThing Chorea Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. hp0009lx5z Choreic movements|Choreiform movements|Choreatic disease HP:0002397 UMLS:C0008489|UMLS:C4020858|MSH:D002819|SNOMEDCT_US:271700006 owl:Class HP:0030820 biolink:NamedThing Hooded eyelid Eyelid partly covered by skin when eyes are open. hp0009lx5z UMLS:C3277348 owl:Class HP:0011353 biolink:NamedThing Arterial intimal fibrosis Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. hp0009lx5z Intimal fibrosis peter 2012-03-01T01:05:59Z UMLS:C4023403|UMLS:C4020753 human_phenotype owl:Class HP:0033112 biolink:NamedThing Elevated circulating apolipoprotein C-III concentration An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. hp0009lx5z Elevated apolipoprotein C-III level|Elevated APOC3 level 2020-08-30 11:30:35+00:00 peter owl:Class HP:0020149 biolink:NamedThing Elevated circulating succinate An increase concentration of succinate in the blood circulation. hp0009lx5z robinp 2019-07-05 19:49:33+00:00 owl:Class HP:0004326 biolink:NamedThing Cachexia Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. hp0009lx5z Wasting syndrome peter 2008-02-27T03:23:00Z SNOMEDCT_US:238108007|MSH:D002100|UMLS:C0006625|SNOMEDCT_US:285384003 human_phenotype owl:Class HP:0031997 biolink:NamedThing Early inspiratory crackles Crackles that appear at the beginning of inspiration and end before mid-inspiration. hp0009lx5z 2018-07-15 21:47:37+00:00 Early inspiratory crackles may be observed, for example, in chronic obstructive pulmonary disease (COPD). Crackles in COPD patients are scanty, gravity-independent, usually audible at the mouth, and strongly associated with severe airway obstruction. Crackles start early in inspiration and usually end before the midpoint of inspiration. peter owl:Class HP:0031996 biolink:NamedThing Inspiratory crackles Crackles that are heard during the inspiratory phase. hp0009lx5z 2018-07-15 21:46:52+00:00 peter owl:Class HP:0040323 biolink:NamedThing Erythema of the eyelids Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin. hp0009lx5z Eyelid erythema|Erythema of eyelid owl:Class HP:0032366 biolink:NamedThing Positive direct antiglobulin test A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. hp0009lx5z 2019-02-23 17:43:12+00:00 The DAT is a method used to detect immunoglobulin or complement bound in vivo to RBCs, using anti-human reagents. There are 3 different reagents that may be used: monospecific reagents to detect either bound immunoglobulin G (IgG) or bound complement (C3) and polyspecific reagents that can simultaneously detect IgG and/or C3. In screening of RBCs for the presence of bound globulins and/or C3, many laboratories may choose to use the polyspecific reagent initially (ie, as a screen for any bound IgG and/or complement) and, if positive, subsequently use monospecific reagents to specifically distinguish what is bound to the RBC surface. peter owl:Class HP:0032749 biolink:NamedThing Focal impaired awareness emotional seizure with paranoia Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0032737 biolink:NamedThing Focal emotional seizure with paranoia Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure. hp0009lx5z peter owl:Class HP:0006600 biolink:NamedThing Progressive calcification of costochondral cartilage hp0009lx5z UMLS:C1968577 human_phenotype owl:Class HP:0033751 biolink:NamedThing Elevated functional residual capacity An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation. hp0009lx5z 2021-04-21 15:49:55+00:00 peter owl:Class HP:0033749 biolink:NamedThing Abnormal functional residual capacity A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation. hp0009lx5z 2021-04-21 15:47:00+00:00 Functional residual capacity (FRC), is about 3L in a normal adult. FRC is the total amount of air in a person's lungs at the lowest point of their tidal volume (TV; the volume of air a person normally inspires and expires). The FRC is a lung capacity, consisting of the sum of two or more volumes. It also cannot be measured directly using spirometry and has to be calculated. This because FRC is a combination of the expiratory reserve volume (ERV) and the residual volume (RV). The residual volume is the amount of air remaining the lung after expelling as much air from the lungs as possible. The residual volume can never be exhaled; thus, it cannot be measured using spirometry and is the air causing the alveoli to remain open. The ERV is the reserve amount of air that can be exhaled forcefully, after passive exhalation. Therefore, the FRC can be represented as the equation: FRC=RV+ERV. peter owl:Class HP:0011960 biolink:NamedThing Substantia nigra gliosis Focal proliferation of glial cells in the substantia nigra. hp0009lx5z peter 2012-07-16T11:50:42Z UMLS:C1846865 human_phenotype owl:Class HP:0006019 biolink:NamedThing Reduced proximal interphalangeal joint space hp0009lx5z Decreased space in hinge joint UMLS:C1861396 human_phenotype owl:Class HP:0012304 biolink:NamedThing Hypoplastic aortic arch Underdevelopment of the arch of aorta. hp0009lx5z Underdeveloped aortic arch|Aortic arch hypoplasia peter 2013-08-06T10:10:36Z UMLS:C0265881|Fyler:2704|SNOMEDCT_US:60787001 human_phenotype owl:Class HP:0033576 biolink:NamedThing Anti-H2B antibody positivity The presence of autoantibodies in the blood circulation that react against histone H2B. hp0009lx5z 2021-01-24 13:58:22+00:00 peter owl:Class HP:0006179 biolink:NamedThing Pseudoepiphyses of second metacarpal hp0009lx5z Extra bone on end of second long bone of hand|Pseudoepiphysis of the 2nd metacarpal HP:0010221 UMLS:C1862693 human_phenotype owl:Class HP:0010220 biolink:NamedThing Abnormality of the epiphysis of the 2nd metacarpal Any abnormality of the epiphysis of the second metacarpal bone. hp0009lx5z Abnormality of the end part of the 2nd long bone of hand doelkens 2009-07-02T04:07:33Z UMLS:C4023964 human_phenotype owl:Class HP:0006688 biolink:NamedThing Paroxysmal tachycardia hp0009lx5z SNOMEDCT_US:12026006|MSH:D013614|UMLS:C0039236 human_phenotype owl:Class HP:0001649 biolink:NamedThing Tachycardia A rapid heartrate that exceeds the range of the normal resting heartrate for age. hp0009lx5z Increased heart rate|Rapid heart beat|Fast heart rate|Racing heart|Elevated heart rate|Heart racing HP:0001720|HP:0001673 MSH:D013610|UMLS:C0039231|SNOMEDCT_US:3424008|SNOMEDCT_US:86651002|UMLS:C4020868 human_phenotype owl:Class HP:0011189 biolink:NamedThing Bilateral multifocal epileptiform discharges Epileptiform discharges being identified at multiple locations in both hemispheres. hp0009lx5z hecht 2011-11-19T10:47:23Z UMLS:C4023485 human_phenotype owl:Class HP:0009423 biolink:NamedThing Bullet-shaped distal phalanx of the 3rd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected. hp0009lx5z Bullet-shaped outermost bone of the middle finger doelkens 2009-01-14T03:16:46Z UMLS:C4024372 human_phenotype owl:Class HP:0010374 biolink:NamedThing Curved 4th toe phalanx A deviation from the normal straight form of one or more phalanges of the fourth toe. hp0009lx5z Curved bones of 4th toe|Curved phalanges of the 4th toe doelkens 2009-07-16T11:51:46Z UMLS:C4021280 human_phenotype owl:Class HP:0009846 biolink:NamedThing Curved middle phalanges of the hand hp0009lx5z Curved middle finger bonds of the hand doelkens 2009-03-11T12:15:55Z HP:0009863 UMLS:C4024186 human_phenotype owl:Class HP:0033065 biolink:NamedThing Mild albuminuria The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol). hp0009lx5z peter owl:Class HP:0031597 biolink:NamedThing PR segment elevation An increase in voltage of the PR segment above baseline. hp0009lx5z PTa elevation|PR interval elevation 2017-10-15 13:45:12+00:00 peter owl:Class HP:0041245 biolink:NamedThing Fractured shoulder bone A partial or complete breakage of the shoulder bone. hp0009lx5z bone shoulder bone owl:Class HP:0031751 biolink:NamedThing Lateral rectus muscle underaction Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. hp0009lx5z 2018-01-21 14:23:28+00:00 peter owl:Class HP:0032834 biolink:NamedThing Neonatal seizure with unilateral automatism Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body. hp0009lx5z peter owl:Class HP:0032372 biolink:NamedThing Increased peripheral blast count An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications. hp0009lx5z Increased peripheral myeloblast count|Elevated blast count|Elevated circulating blasts 2019-02-24 13:28:31+00:00 peter owl:Class HP:0032046 biolink:NamedThing Focal cortical dysplasia A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. hp0009lx5z 2018-09-16 10:55:37+00:00 Focal cortical dysplasia is one of the most common entities associated with refractory epilepsy, especially in childhood. peter owl:Class HP:0003538 biolink:NamedThing Increased serum iduronate sulfatase level An increased level of iduronate-2-sulfatase activity in the blood. hp0009lx5z Increased serum iduronate sulfatase Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene are associated with Mucopolysaccharidosis Type II. Increased serum iduronate-2-sulfatase is observed in mucolipidosis II alpha/beta. UMLS:C4025599|UMLS:C2673363 human_phenotype owl:Class HP:0008163 biolink:NamedThing Decreased circulating cortisol level Abnormally reduced concentration of cortisol in the blood. hp0009lx5z Hypocortisolism|Glucocorticoid insufficiency|Low to undetectable plasma cortisol|Plasma cortisol low|Hypocortisolemia|Decreased cortisol production|Low blood cortisol level HP:0004317|HP:0008220|HP:0000874|HP:0003291 UMLS:C1846225|UMLS:C1833054|UMLS:C1836623 human_phenotype owl:Class HP:0004552 biolink:NamedThing Scarring alopecia of scalp hp0009lx5z Hair loss on scalp from scarring condition|Cicatricial alopecia UMLS:C3806301 owl:Class HP:0002293 biolink:NamedThing Alopecia of scalp hp0009lx5z Missing scalp hair|Scalp hair loss|Baldness|Pathologic hair loss from scalp|Absence of scalp hair HP:0200115 UMLS:C1850535|SNOMEDCT_US:278040002|UMLS:C0574769|UMLS:C0002170|MSH:D000505|SNOMEDCT_US:56317004|SNOMEDCT_US:298000004 owl:Class HP:0003546 biolink:NamedThing Exercise intolerance A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. hp0009lx5z Inability to exercise|Decreased ability to exercise|Low exercise endurance|Poor exercise tolerance SNOMEDCT_US:267044007|UMLS:C0424551 human_phenotype owl:Class HP:0010031 biolink:NamedThing Patchy sclerosis of the 1st metacarpal Uneven increase in bone density within the 1st metacarpal. hp0009lx5z Uneven increase in bone density in 1st long bone of hand doelkens 2009-05-27T04:24:30Z UMLS:C4024093 human_phenotype owl:Class HP:0100914 biolink:NamedThing Sclerosis of the 1st metacarpal hp0009lx5z Increased bone density in 1st long bone of hand UMLS:C4021928 human_phenotype owl:Class HP:0001284 biolink:NamedThing Areflexia Absence of neurologic reflexes such as the knee-jerk reaction. hp0009lx5z Loss of deep tendon reflexes|Absent deep tendon reflexes|Absent tendon reflexes|Deep tendon reflexes absent|Absent reflexes The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). HP:0001314 UMLS:C0234146|SNOMEDCT_US:37280007|MSH:D012021|UMLS:C0241772|UMLS:C0278124|SNOMEDCT_US:349006 human_phenotype owl:Class HP:0002057 biolink:NamedThing Prominent glabella Forward protrusion of the glabella. hp0009lx5z Prominent area between the eyebrows|Hyperplasia of glabella|Protruding area between the eyebrows|Convex glabella The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. UMLS:C1860247 human_phenotype owl:Class HP:0002056 biolink:NamedThing Abnormality of the glabella An abnormality of the glabella. hp0009lx5z Abnormality of the area between the eyebrows|Malformation of the area between the eyebrows|Deformity of the area between the eyebrows|Glabellar abnormality UMLS:C4021763 human_phenotype owl:Class HP:0200158 biolink:NamedThing Agenesis of permanent mandibular lateral incisor hp0009lx5z Missing adult lower lateral incisor|Failure of development of permanent mandibular lateral incisor|Absence of adult mandibular lateral incisor|Missing permanent mandibular lateral incisor|Absence of permanent mandibular lateral incisor UMLS:C4280282|UMLS:C4021879 owl:Class HP:0200154 biolink:NamedThing Agenesis of mandibular lateral incisor hp0009lx5z Absence of lower lateral incisor|Missing mandibular lateral incisor|Missing lower lateral incisor|Absence of mandibular lateral incisor|Failure of development of mandibular lateral incisor UMLS:C4021880|UMLS:C4280283 owl:Class HP:0012621 biolink:NamedThing Persistent cloaca Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. hp0009lx5z Cloacogenic bladder peter 2014-01-17T12:28:30Z UMLS:C0266225|SNOMEDCT_US:74829002 human_phenotype owl:Class HP:0004813 biolink:NamedThing Post-transfusion thrombocytopenia Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages. hp0009lx5z Post-transfusion purpura Post-transfusion thrombocytopenia is thought to be related to platelet-specific alloantibody from prior transfusion/pregnancy. SNOMEDCT_US:73162004|UMLS:C1868252|UMLS:C0398648|MSH:C562868 human_phenotype owl:Class HP:0012435 biolink:NamedThing Ventral shortening of foreskin Reduction in length of the ventral (lower) skin of prepuce of penis. hp0009lx5z peter 2013-11-23T08:45:20Z UMLS:C4022905 owl:Class HP:0005381 biolink:NamedThing Recurrent meningococcal disease Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus. hp0009lx5z Increased susceptibility to neisseria meningitidis infections HP:0005414 UMLS:C1970263 human_phenotype owl:Class HP:0003288 biolink:NamedThing Mitochondrial propionyl-CoA carboxylase defect hp0009lx5z Mitochondrial PCC defect UMLS:C4025634 human_phenotype owl:Class HP:0010104 biolink:NamedThing Absent first metatarsal A developmental defect characterized by the absence of the first metatarsal bone. hp0009lx5z Absent 1st long bone of foot|Aplasia of the 1st metatarsal|Absent 1st metatarsal doelkens 2009-05-29T12:42:09Z HP:0006124 UMLS:C1863382 human_phenotype owl:Class HP:0010067 biolink:NamedThing Aplasia/hypoplasia of the 1st metatarsal Absence or underdevelopment of the first metatarsal bone. hp0009lx5z Absent/underdeveloped 1st long bone of foot|Absent/small 1st long bone of foot doelkens 2009-05-29T12:13:57Z UMLS:C4024076 human_phenotype owl:Class HP:0003868 biolink:NamedThing Humeral cortical thickening hp0009lx5z UMLS:C4025542 human_phenotype owl:Class HP:0010629 biolink:NamedThing Abnormal morphology of the cortex of the humerus Any abnormality affecting the cortex of the humerus. hp0009lx5z peter 2009-12-06T05:45:26Z UMLS:C4023770 human_phenotype owl:Class HP:0009796 biolink:NamedThing Branchial cyst A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. hp0009lx5z Branchial cysts|Branchial cleft cyst Branchial cyst have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear. peter 2009-02-11T05:18:08Z SNOMEDCT_US:59857007|MSH:D001935|SNOMEDCT_US:42362005|UMLS:C0006131 human_phenotype owl:Class HP:0011880 biolink:NamedThing Acute disseminated intravascular coagulation An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed. hp0009lx5z peter 2012-06-02T04:49:50Z UMLS:C4023149 human_phenotype owl:Class HP:0033893 biolink:NamedThing Renal arteriolar lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. hp0009lx5z 2021-06-23 22:15:03+00:00 peter owl:Class HP:0033597 biolink:NamedThing Decreased mucosal sucrase-isomaltase activity Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi. hp0009lx5z 2021-01-30 13:48:50+00:00 Sucrase-isomaltase has two subunits, sucrase and isomaltase. Isomaltase cleaves branched (1-6 linked) alpha-limit dextrins, while sucrase digests sucrose, maltose, short 1-4 linked glucose oligomers, and some branched starches into sugar monomers for intestinal absorption. Deficiency of this enzyme can lead to osmotic diarrhea, mild steatorrhea, chronic diarrhea, irritability, and vomiting after consuming sucrose. peter owl:Class HP:0033529 biolink:NamedThing Abnormal cardiac index Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area. hp0009lx5z 2021-01-15 12:50:05+00:00 Cardiac output (CO) can be further broken down as the product of stroke volume (SV), which is the blood volume ejected by one heartbeat, and heart rate (HR), which is the number of heartbeats per minute. Therefore, the cardiac index can be defined as Cardiac Output / Body Surface Area = (Heart Rate * Stroke Volume) / Body Surface Area. peter owl:Class HP:0000117 biolink:NamedThing Renal phosphate wasting High urine phosphate in the presence of hypophosphatemia. hp0009lx5z Tubular phosphate reabsorption low|Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate|Decreased renal tubular phosphate reabsorption UMLS:C1845169 human_phenotype owl:Class HP:0032757 biolink:NamedThing Focal aware hemiclonic seizure A focal hemiclonic seizure in which awareness is retained throughout. hp0009lx5z peter owl:Class HP:0100379 biolink:NamedThing Aplasia of the distal phalanx of the 4th toe hp0009lx5z Absent distal phalanx of the 4th toe|Absent outermost bone of the 4th toe UMLS:C4022113 human_phenotype owl:Class HP:0100370 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 4th toe hp0009lx5z Absent/underdeveloped outermost bone of 4th toe|Absent/small outermost bone of 4th toe UMLS:C4022121 human_phenotype owl:Class HP:3000019 biolink:NamedThing Abnormality of buccal mucosa An abnormality of a buccal mucosa. hp0009lx5z Abnormality of cheek mucosa|Abnormality of inside lining of cheek vasilevs 2015-08-07T00:13:17Z UMLS:C4073228 human_phenotype owl:Class HP:0033424 biolink:NamedThing Pulmonary arterial hypertension with lack of acute response to NO challenge A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm). hp0009lx5z 2021-01-09 17:34:32+00:00 peter owl:Class HP:0002092 biolink:NamedThing Pulmonary arterial hypertension Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. hp0009lx5z Increased blood pressure in blood vessels of lungs|Primary pulmonary hypertension|Pulmonary artery hypertension Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used. HP:0006546 UMLS:C0020542|SNOMEDCT_US:697898008|SNOMEDCT_US:70995007|SNOMEDCT_US:11399002|UMLS:C3203102|MSH:D065627|UMLS:C2973725|MSH:D006976 owl:Class HP:0008058 biolink:NamedThing Aplasia/Hypoplasia of the optic nerve hp0009lx5z Absent/underdeveloped optic nerve|Absent/small optic nerve peter 2008-04-02T03:28:00Z UMLS:C4024743 human_phenotype owl:Class HP:0008057 biolink:NamedThing Aplasia/Hypoplasia affecting the fundus hp0009lx5z Absent/small fundus peter 2008-04-02T03:27:00Z UMLS:C4024744 human_phenotype owl:Class HP:0007913 biolink:NamedThing Reticular retinal dystrophy A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation. hp0009lx5z UMLS:C4024776 human_phenotype owl:Class HP:0030546 biolink:NamedThing Unaided visual acuity 1.1 LogMAR hp0009lx5z UMLS:C4073020 owl:Class HP:0040057 biolink:NamedThing Abnormality of nasal hair hp0009lx5z Abnormality of nasal hair|Abnormality of nose hair HPO:skoehler UMLS:C4021858 owl:Class HP:0025008 biolink:NamedThing Tracheal tug on inspiration Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree. hp0009lx5z 2016-08-06 23:22:12+00:00 HPO:probinson owl:Class HP:0100814 biolink:NamedThing Blue nevus hp0009lx5z Mongolian spot|Congenital dermal melanocytosis doelkens 2011-06-09T02:15:28Z MSH:D049328|SNOMEDCT_US:40467008|UMLS:C0265985|UMLS:C4020699 human_phenotype owl:Class HP:0003645 biolink:NamedThing Prolonged partial thromboplastin time Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. hp0009lx5z Prolonged PTT|Abnormal partial thromboplastin time|Delayed thromboplastin generation|Partial thromboplastin time prolonged|Prolonged activated partial thromboplastin time SNOMEDCT_US:409675001|UMLS:C0240671 human_phenotype owl:Class HP:5000000 biolink:NamedThing Anti-AK5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5). hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0041180 biolink:NamedThing Fractured distal phalanx of pedal digit 1 A partial or complete breakage of the distal phalanx of pedal digit 1. hp0009lx5z bone distal phalanx of pedal digit 1 owl:Class HP:0002626 biolink:NamedThing Venous varicosities of celiac and mesenteric vessels Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. hp0009lx5z Venous varicosities of coeliac and mesenteric vessels UMLS:C1857692 human_phenotype owl:Class HP:0002619 biolink:NamedThing Varicose veins Enlarged and tortuous veins. hp0009lx5z SNOMEDCT_US:399989005|UMLS:C0042345|SNOMEDCT_US:128060009|MSH:D014648|SNOMEDCT_US:12856003 human_phenotype owl:Class HP:0030295 biolink:NamedThing Metaphyseal chondromatosis of femur hp0009lx5z UMLS:C4022530 owl:Class HP:0003015 biolink:NamedThing Flared metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. hp0009lx5z marked metaphyseal flaring of long bones|Flared, widened metaphyses|Metaphyseal flaring|Metaphyseal splaying|Metaphyses flared|Splayed metaphyses|Flared wide portion of long bone|Metaphyseal flaring of long bones Figure 11 of PMID:12853662 shows metaphyseal flaring. HP:0005015|HP:0004994|HP:0005095|HP:0200002|HP:0000945|HP:0003047 UMLS:C1850135 human_phenotype owl:Class HP:0003016 biolink:NamedThing Metaphyseal widening Abnormal widening of the metaphyseal regions of long bones. hp0009lx5z Widened long bone metaphyses|Widened metaphyses|Wide metaphyses|Broad wide portion of long bone HP:0005074 UMLS:C1849039 human_phenotype owl:Class HP:0020150 biolink:NamedThing Elevated urinary uromodulin An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine. hp0009lx5z Elevated urinary Tamm-Horsfall protein concentration Uromodulin (also known as Tamm Horsfall protein) is exclusively produced in the kidney and is the most abundant protein in normal urine. Levels of uromodulin in the urine and in the blood, where it is present in lower amounts, are valuable biomarkers for tubular mass and renal function. robinp 2019-07-05 19:52:14+00:00 owl:Class HP:0031550 biolink:NamedThing Abnormal flow cytometry test result Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules. hp0009lx5z 2017-09-24 23:18:11+00:00 peter owl:Class HP:0410257 biolink:NamedThing Neutrophilia in presence of infection An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus. hp0009lx5z 2018-10-19 19:22:50+00:00 owl:Class HP:0011897 biolink:NamedThing Neutrophilia Increased number of neutrophils circulating in blood. hp0009lx5z Increased blood neutrophil counts peter 2012-06-03T03:16:43Z UMLS:C4023140 human_phenotype owl:Class HP:0033479 biolink:NamedThing Abnormal circulating bilirubin concentration hp0009lx5z 2021-01-09 23:02:44+00:00 peter owl:Class HP:0410312 biolink:NamedThing Hypersegmentation of neutrophil nuclei in CSF An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid. hp0009lx5z Hypersegmentation of neutrophil nuclei in cerebrospinal fluid owl:Class HP:0004704 biolink:NamedThing Short fifth metatarsal Short (hypoplastic) fifth metatarsal bone. hp0009lx5z Hypoplasia of the fifth metatarsal bone|Short 5th long bone of foot HP:0010671|HP:0004702 UMLS:C4021649 human_phenotype owl:Class HP:0011954 biolink:NamedThing Nodular regenerative hyperplasia of liver Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. hp0009lx5z Partial nodular transformation of liver|Noncirrhotic nodulation|Nodular transformation of liver peter 2012-06-21T09:06:10Z UMLS:C1318485|SNOMEDCT_US:65860006|SNOMEDCT_US:715140008 human_phenotype owl:Class HP:0030363 biolink:NamedThing Primary Caesarian section Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section. hp0009lx5z UMLS:C4072903 owl:Class HP:0011410 biolink:NamedThing Caesarian section Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). hp0009lx5z Caesarian section peter 2012-03-15T09:58:01Z SNOMEDCT_US:200144004|UMLS:C1384674 human_phenotype owl:Class HP:0032242 biolink:NamedThing Cervical intraepithelial neoplasia A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer. hp0009lx5z 2019-01-26 19:49:11+00:00 peter owl:Class HP:0002047 biolink:NamedThing Malignant hyperthermia Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine. hp0009lx5z Malignant hyperthermia with anesthesia|Malignant hyperthermia with anaesthesia HP:0004896 MSH:D008305|SNOMEDCT_US:405501007|SNOMEDCT_US:213026003|UMLS:C0024591 owl:Class HP:0033846 biolink:NamedThing Spinal hypomyelination Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis. hp0009lx5z 2021-06-01 16:29:58+00:00 peter owl:Class HP:0003429 biolink:NamedThing CNS hypomyelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. hp0009lx5z hypomyelination SNOMEDCT_US:111007000|UMLS:C0544820|UMLS:C4025616 human_phenotype owl:Class HP:0030437 biolink:NamedThing Anal canal neoplasm hp0009lx5z Anal canal tumour|Anal canal tumor SNOMEDCT_US:126850006|NCIT:C3262|UMLS:C0345883 owl:Class HP:0031326 biolink:NamedThing Monoclonal light chain cardiac amyloidosis A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry. hp0009lx5z 2017-08-27 12:23:49+00:00 peter owl:Class HP:0007089 biolink:NamedThing Facial-lingual fasciculations Fasciculations affecting the tongue muscle and the musculature of the face. hp0009lx5z UMLS:C1862359 human_phenotype owl:Class HP:0003067 biolink:NamedThing Madelung deformity An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. hp0009lx5z Madelung wrist deformity UMLS:C0152441|MSH:C562398|SNOMEDCT_US:4530000 human_phenotype owl:Class HP:0041235 biolink:NamedThing Fractured hindlimb bone A partial or complete breakage of the hindlimb bone. hp0009lx5z bone hindlimb bone owl:Class HP:0100038 biolink:NamedThing Slow-growing scalp hair Scalp hair whose growth is slower than normal. hp0009lx5z Slow-growing scalp hair doelkens 2010-06-22T05:46:59Z HP:0004553 UMLS:C4022383 owl:Class HP:0500216 biolink:NamedThing Abnormal CSF aspartate concentration Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid. hp0009lx5z Abnormal CSF aspartic acid concentration|Abnormal aspartic acid levels in cerebrospinal fluid 2019-02-25 19:31:26+00:00 owl:Class HP:0032896 biolink:NamedThing Music-induced seizure Seizure precipitated by listening to music or other complex sounds. hp0009lx5z peter owl:Class HP:0005473 biolink:NamedThing Fusion of middle ear ossicles Bony fusion of malleus, incus, and stapes. hp0009lx5z UMLS:C1862068 human_phenotype owl:Class HP:0100240 biolink:NamedThing Synostosis of joints The abnormal fusion of neighboring bones across a joint. hp0009lx5z Bony ankylosis|Fusion of joints Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces. doelkens 2010-06-24T06:04:02Z UMLS:C4022183 human_phenotype owl:Class HP:0032217 biolink:NamedThing Indurated nodule A skin nodule that is unusually hard (indurated). hp0009lx5z 2019-01-21 00:45:22+00:00 peter owl:Class HP:0030169 biolink:NamedThing Gastric varix Extreme dilation of the submucusoal veins in the stomach. hp0009lx5z Gastric varices UMLS:C0017145|MSH:D004932|SNOMEDCT_US:91109007 owl:Class HP:0001126 biolink:NamedThing Cryptophthalmos Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. hp0009lx5z Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin. HP:0008032 UMLS:C0311249|SNOMEDCT_US:400951005 human_phenotype owl:Class HP:0000800 biolink:NamedThing Cystic renal dysplasia hp0009lx5z Renal dysplasia, cystic|Bilateral cystic dysplasia|Renal cystic dysplasia HP:0008737 UMLS:C1834931 human_phenotype owl:Class HP:0031330 biolink:NamedThing Perivascular myocardial immune cell infiltration An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels. hp0009lx5z 2017-08-27 12:41:40+00:00 peter owl:Class HP:0410263 biolink:NamedThing Brain imaging abnormality An anomaly of metabolism or structure of the brain identified by imaging. hp0009lx5z Abnormal brain imaging 2018-10-19 22:17:24+00:00 owl:Class HP:0100575 biolink:NamedThing Neoplasm of the gallbladder The presence of a neoplasm of the gallbladder. hp0009lx5z Neoplasia of the gallbladder doelkens 2010-12-21T05:18:44Z UMLS:C4020708|MSH:D005706|SNOMEDCT_US:126854002|NCIT:C3262|UMLS:C0016978 human_phenotype owl:Class HP:0100778 biolink:NamedThing Cryoglobulinemia Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius. hp0009lx5z Cryoprecipitable immune complexes doelkens 2011-06-07T05:42:38Z MSH:D003449|UMLS:C0010403|SNOMEDCT_US:30911005 human_phenotype owl:Class HP:0011371 biolink:NamedThing Recurrent viral skin infections Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections. hp0009lx5z Recurrent viral skin infections peter 2012-03-03T10:36:20Z UMLS:C4023393 human_phenotype owl:Class HP:0031391 biolink:NamedThing Elevated MHC II surface expression An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface. hp0009lx5z 2017-09-02 17:02:46+00:00 peter owl:Class HP:0000605 biolink:NamedThing Supranuclear gaze palsy A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. hp0009lx5z Supranuclear gaze paralysis UMLS:C1720037|SNOMEDCT_US:420675003 human_phenotype owl:Class HP:0030582 biolink:NamedThing Pinhole visual acuity 2.0 LogMAR hp0009lx5z UMLS:C4073055 owl:Class HP:0006283 biolink:NamedThing Multiple unerupted teeth The presence of multiple embedded tooth germs which have failed to erupt. hp0009lx5z Multiple non-erupting teeth|Multiple unerupted teeth|Failure of eruption of multiple teeth UMLS:C4025069 human_phenotype owl:Class HP:0011172 biolink:NamedThing Complex febrile seizure A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. hp0009lx5z Complex febrile seizures|Complex febrile convulsion|Complex fever fit Children presenting with a prolonged seizure stopped with anticonvulsive therapy (i.e., diazepam) before the 15th minute should be classified within this group. hecht 2011-11-19T10:10:00Z SNOMEDCT_US:433083002|UMLS:C0751057|MSH:D003294 human_phenotype owl:Class HP:0010991 biolink:NamedThing Abnormal morphology of the abdominal musculature An abnormality of the abdominal musculature. hp0009lx5z Abnormality of the abdominal musculature peter 2011-02-09T08:05:11Z UMLS:C4023608 human_phenotype owl:Class HP:0008320 biolink:NamedThing Impaired collagen-induced platelet aggregation Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. hp0009lx5z UMLS:C4024703 human_phenotype owl:Class HP:0011618 biolink:NamedThing Pulmonary situs ambiguus with bilateral morphologic right lungs An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung. hp0009lx5z peter 2012-04-08T09:25:35Z UMLS:C4023268 human_phenotype owl:Class HP:0001920 biolink:NamedThing Renal artery stenosis The presence of stenosis of the renal artery. hp0009lx5z Narrowing of kidney artery SNOMEDCT_US:282664001|SNOMEDCT_US:302233006|Fyler:2634|MSH:D012078|UMLS:C0035067 human_phenotype owl:Class HP:0000886 biolink:NamedThing Deformed rib cage Malformation of the rib cage. hp0009lx5z Deformed rib cage UMLS:C1838659 human_phenotype owl:Class HP:0003308 biolink:NamedThing Cervical subluxation A partial dislocation of one or more intervertebral joints in the cervical vertebral column. hp0009lx5z UMLS:C1846798 owl:Class HP:0500116 biolink:NamedThing Positive blood barbiturate test Detection of barbiturate metabolites such as Phenobarbital in blood. hp0009lx5z 2018-07-20 15:10:44+00:00 owl:Class HP:0003878 biolink:NamedThing Periosteal new bone of humerus hp0009lx5z UMLS:C4025533 human_phenotype owl:Class HP:0006335 biolink:NamedThing Persistence of primary teeth Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. hp0009lx5z Persistent primary dentition|Retained baby teeth|Failure to lose baby teeth|Retained primary teeth|Delayed loss of primary teeth|Delayed loss of baby teeth|Retained deciduous teeth|Failure to exfoliate deciduous teeth|Persistence of deciduous teeth|Delayed loss of deciduous teeth|Failure to exfoliate primary teeth|Deciduous teeth retention|Persistent deciduous dentition|Persistent primary teeth The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. Persistence of primary teeth may be related to agenesis of the permanent teeth. Molar primary teeth may be persistent because of the agenesis of the premolars. HP:0003772|HP:0006305|HP:0006299|HP:0006341|HP:0006354 UMLS:C0266050|SNOMEDCT_US:57650002 owl:Class HP:0002805 biolink:NamedThing Accelerated bone age after puberty hp0009lx5z Accelerated bone age after puberty UMLS:C1860825 human_phenotype owl:Class HP:0004692 biolink:NamedThing 4-5 toe syndactyly Syndactyly with fusion of toes four and five. hp0009lx5z Symmetric syndactyly, toes 4 and 5|Syndactyly of toes 4 and 5|Webbed 4th-5th toes HP:0005826|HP:0005861 UMLS:C1837836 human_phenotype owl:Class HP:0010068 biolink:NamedThing Broad first metatarsal Increased side-to-side width of the first metatarsal bone. hp0009lx5z Broad 1st metatarsal|Wide 1st long bone of foot|Enlarged first metatarsal doelkens 2009-05-29T12:13:57Z HP:0008085|HP:0004709|HP:0008139 UMLS:C1855899 human_phenotype owl:Class HP:0005977 biolink:NamedThing Hypochloremic metabolic alkalosis hp0009lx5z UMLS:C0740895 human_phenotype owl:Class HP:0012875 biolink:NamedThing Abnormal ejaculation Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract. hp0009lx5z hecht 2014-06-09T11:21:29Z UMLS:C2937350|SNOMEDCT_US:386674000 human_phenotype owl:Class HP:0032723 biolink:NamedThing Focal aware motor seizure with dystonia A focal motor seizure with dystonia characterized by retained awareness throughout the seizure. hp0009lx5z Focal motor aware seizure with dystonia peter owl:Class HP:0009264 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 4th finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the innermost bone of the ring finger doelkens 2009-01-07T12:12:59Z UMLS:C4024485 human_phenotype owl:Class HP:0032306 biolink:NamedThing Increased mannose-binding protein level An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation. hp0009lx5z 2019-02-12 23:29:43+00:00 peter owl:Class HP:0033235 biolink:NamedThing Difficulty descending stairs Reduced ability to desscend stairs. hp0009lx5z Difficulty walking down stairs 2020-10-31 13:07:11+00:00 peter owl:Class HP:0032041 biolink:NamedThing Vocal cord polyp A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color. hp0009lx5z 2018-09-08 01:50:44+00:00 In severe conditions, polyps turn hemorrhagic and emerge as blood blisters on vocal cords. This occurs when collision forces, generated during the oscillatory cycle of phonation, cause microtrauma within the basement membrane of epithelium and the superficial layer of the lamina propria. Consequently, oscillation of vocal folds leads to neovascularization and hemorrhagic events within the damaged tissue. Depending on the size, position, and type of polyps, abnormal voice qualities including hoarseness, harshness, and breathiness would be different. The size of polyps varies from small to large masses, and a criterion to distinguish polyps from nodules is defined as mass bigger than 0.3 mm whereby bigger masses could be classified as polyps. peter owl:Class HP:0006201 biolink:NamedThing Hypermobility of distal interphalangeal joints hp0009lx5z Increased mobility of outermost hinge joint UMLS:C1851811 human_phenotype owl:Class HP:0005620 biolink:NamedThing Hypermobility of interphalangeal joints The ability of the interphalangeal joints to move beyond their normal range of motion. hp0009lx5z Increased mobility of hinge joints UMLS:C4025172 human_phenotype owl:Class HP:0006863 biolink:NamedThing Severe expressive language delay A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. hp0009lx5z UMLS:C1851085|SNOMEDCT_US:62221000119105 owl:Class HP:0031436 biolink:NamedThing Increased pitch variability of speech A speech pattern characterized by abnormally elevated variability of the pitch of the voice. hp0009lx5z 2017-09-16 12:39:11+00:00 peter owl:Class HP:0031434 biolink:NamedThing Abnormal speech prosody An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm. hp0009lx5z 2017-09-16 12:34:05+00:00 peter owl:Class HP:0012109 biolink:NamedThing Angle closure glaucoma A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact). hp0009lx5z Primary angle closure glaucoma Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. peter 2012-09-10T05:22:48Z SNOMEDCT_US:392288006|UMLS:C0017606 human_phenotype owl:Class HP:0001748 biolink:NamedThing Polysplenia Polysplenia is a congenital disease manifested by multiple small accessory spleens. hp0009lx5z Multiple small spleens|Accessory spleens|Multiple accessory spleens HP:0006271|HP:0001749|HP:0006272 UMLS:C1856659 human_phenotype owl:Class HP:0032767 biolink:NamedThing Focal autonomic seizure with piloerection A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature. hp0009lx5z peter owl:Class HP:0033480 biolink:NamedThing Hypobilirubinemia Decreased circulation of bilirubin in the blood circulation. hp0009lx5z 2021-01-09 23:03:03+00:00 peter owl:Class HP:0010028 biolink:NamedThing Bullet-shaped 1st metacarpal The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped"). hp0009lx5z Bullet-shaped 1st long bone of hand doelkens 2009-05-27T04:24:30Z UMLS:C4024096 human_phenotype owl:Class HP:0032624 biolink:NamedThing Intratubular bilirubin casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). hp0009lx5z peter owl:Class HP:0005396 biolink:NamedThing Susceptibility to coronavirus 229e Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e. hp0009lx5z UMLS:C1852539 human_phenotype owl:Class HP:0032267 biolink:NamedThing Empty delta sign This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases. hp0009lx5z 2019-01-27 20:21:18+00:00 The use of multislice contrast-enhanced CT scan, with reconstructions into thinner slices in different planes, markedly improves the yield. The sign may not be seen in the early stage (less than 5 days) of thrombosis, as the fresh clot is hyperdense, or in the late stage (after more than 2 months), as numerous channels of recanalization develop in the thrombus after 2 months. peter owl:Class HP:0041080 biolink:NamedThing Abnormal proportion of exhausted T cells A deviation from the normal proportion of exhausted T cell relative to T cell in the blood. hp0009lx5z T cell exhaustion is a broad term that has been used to describe the response of T cells to chronic antigen stimulation, first in the setting of chronic viral infection but more recently in response to tumours. owl:Class HP:0041077 biolink:NamedThing Increased immunoglobulin level in body fluid An elevation from normal levels of immunoglobulins in body fluids, such as mucous. hp0009lx5z owl:Class HP:4000022 biolink:NamedThing Anti-laminin 6 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6. hp0009lx5z 2021-05-02 14:31:25+00:00 robinp owl:Class HP:0032816 biolink:NamedThing Neonatal multifocal myoclonic seizure Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites. hp0009lx5z peter owl:Class HP:0020086 biolink:NamedThing BCGitis Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. hp0009lx5z 2019-04-08 17:25:28+00:00 The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. robinp owl:Class HP:0001997 biolink:NamedThing Gout Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. hp0009lx5z Gouty arthritis HP:0001368 MSH:D015210|MSH:D006073|UMLS:C0018099|SNOMEDCT_US:90560007|SNOMEDCT_US:170733007|SNOMEDCT_US:190828008|UMLS:C0003868|SNOMEDCT_US:48440001 human_phenotype owl:Class HP:0410169 biolink:NamedThing Abnormal morphology of the shoulder musculature Any abnormality of the shoulder muscles. hp0009lx5z Muscle issues in the shoulder|Abnormality of the shoulder musculature 2018-05-01 17:39:54+00:00 owl:Class HP:0100209 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 5th toe hp0009lx5z doelkens 2010-06-24T05:03:31Z UMLS:C4022212 human_phenotype owl:Class HP:0006539 biolink:NamedThing Bronchial cartilage hypoplasia hp0009lx5z Underdevelopment of the bronical cartilage UMLS:C4025024 human_phenotype owl:Class HP:0031736 biolink:NamedThing Involutional entropion An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. hp0009lx5z 2018-01-21 13:40:49+00:00 peter owl:Class HP:0000621 biolink:NamedThing Entropion An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. hp0009lx5z Eyelid folded in|Inverted eyelid|Eyelid turned in The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon. UMLS:C0014390|SNOMEDCT_US:33168009|MSH:D004774 human_phenotype owl:Class HP:0009305 biolink:NamedThing Distal/middle symphalangism of 4th finger Fusion of the terminal/distal and middle phalanges of the 4th finger. hp0009lx5z Symphalangism of the distal and middle phalanges of the 4th finger|Fused outermost and middle bones of ring finger doelkens 2009-01-08T04:41:33Z HP:0009474|HP:0009475 UMLS:C4021495 human_phenotype owl:Class HP:5000022 biolink:NamedThing Anti-Ma2 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2. hp0009lx5z Anti-Ta antibody ORCID:0000-0002-3387-1836 owl:Class HP:0010769 biolink:NamedThing Pilonidal sinus A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris. hp0009lx5z Pilonidal cyst sdoelken 2010-04-29T09:55:15Z HP:0010768 SNOMEDCT_US:47639008|MSH:D010864|UMLS:C0031925 human_phenotype owl:Class HP:0010071 biolink:NamedThing Osteolytic defects of the 1st metatarsal Dissolution or degeneration of bone tissue of the first metatarsal. hp0009lx5z doelkens 2009-05-29T12:13:57Z UMLS:C4024073 human_phenotype owl:Class HP:0001473 biolink:NamedThing Metatarsal osteolysis Osteolysis involving metatarsal bones. hp0009lx5z Osteolysis involving metatarsal bones peter 2008-04-17T02:38:00Z HP:0001866 UMLS:C1854614 human_phenotype owl:Class HP:0025296 biolink:NamedThing Morbilliform Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent. hp0009lx5z 2016-12-18 16:20:14+00:00 HPO:probinson owl:Class HP:0033857 biolink:NamedThing Intraluminal thrombi within interlobular veins Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney. hp0009lx5z 2021-06-02 19:06:12+00:00 peter owl:Class HP:0100735 biolink:NamedThing Hypertensive crisis hp0009lx5z doelkens 2011-06-06T05:38:31Z UMLS:C0020546|SNOMEDCT_US:706882009 human_phenotype owl:Class HP:0007780 biolink:NamedThing Cortical pulverulent cataract A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. hp0009lx5z Cataracts, cortical pulverulent UMLS:C4021568 human_phenotype owl:Class HP:0010693 biolink:NamedThing Pulverulent cataract A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. hp0009lx5z Pulverulent cataract The word "pulverulent " means dust-like and refers to the dustlike appearance of the punctate opacities in this type of cataract. The word pulverulent refers to the very small size of the punctate opacities (like flecks of dust) rather than to a dust-like color. peter 2010-03-11T02:49:53Z UMLS:C1833118|MSH:C563426 human_phenotype owl:Class HP:5000011 biolink:NamedThing Anti-GAD65 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65). hp0009lx5z Anti-glutamic acid decarboxylase 65 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0010531 biolink:NamedThing Spinal myoclonus Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia. hp0009lx5z peter 2009-09-20T08:53:39Z UMLS:C3697670|SNOMEDCT_US:698836007 human_phenotype owl:Class HP:0010365 biolink:NamedThing Symphalangism affecting the phalanges of the 3rd toe hp0009lx5z Fused bones of 3rd toe doelkens 2009-07-16T11:51:17Z UMLS:C4023880 human_phenotype owl:Class HP:0033711 biolink:NamedThing Pulmonary interstitial thickening Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening. hp0009lx5z 2021-04-05 18:17:15+00:00 peter owl:Class HP:0200118 biolink:NamedThing Malabsorption of Vitamin B12 hp0009lx5z Vitamin B12 deficiency caused by intestinal malabsorption|Malabsorption of cyanocobalamin sebastiankohler 2013-06-11T11:04:49Z UMLS:C0750292|UMLS:C1850013 human_phenotype owl:Class HP:0004468 biolink:NamedThing Anomalous tracheal cartilage An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue). hp0009lx5z Abnormal tracheal cartilaginous ring HPO:probinson UMLS:C1863406 human_phenotype owl:Class HP:0007889 biolink:NamedThing Iridescent posterior subcapsular cataract A type of posterior subcapsular cataract characterized by an iridescent color. hp0009lx5z Cataracts, posterior, subcapsular, iridescent UMLS:C1864573 human_phenotype owl:Class HP:0007787 biolink:NamedThing Posterior subcapsular cataract A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. hp0009lx5z Posterior subcapsular cataracts|Posterior subcapsular opacities of the lens HP:0007666|HP:0007857 SNOMEDCT_US:315353005|UMLS:C0858617 human_phenotype owl:Class HP:0033970 biolink:NamedThing Interlobular vein intima/media liquefactive necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. hp0009lx5z Liquefactive necrosis within interlobular vein intima/media 2021-06-24 12:54:39+00:00 peter owl:Class HP:0011939 biolink:NamedThing 3-4 finger cutaneous syndactyly A soft tissue continuity in the A/P axis between fingers 3 and 4. hp0009lx5z peter 2012-06-10T05:13:51Z UMLS:C4023115 human_phenotype owl:Class HP:0010554 biolink:NamedThing Cutaneous finger syndactyly A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. hp0009lx5z Webbed skin of fingers|Cutaneous syndactyly of hands|Cutaneous syndactyly of fingers|Webbed fingers We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly. sandra1 2009-10-07T10:59:57Z HP:0005637|HP:0006220|HP:0001214|HP:0006054 UMLS:C4021254 human_phenotype owl:Class HP:0100359 biolink:NamedThing Contracture of the metatarsophalangeal joint of the 5th toe The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively. hp0009lx5z UMLS:C4022126 human_phenotype owl:Class HP:0011056 biolink:NamedThing Agenesis of first permanent molar tooth Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. hp0009lx5z Missing first permanent molar|Missing six year molar|Failure of development of six year molar|Absence of six year molar|Absence of first permanent molar|Agenesis of six year molar|Failure of development of first permanent molar peter 2011-03-10T11:45:27Z UMLS:C4280346|UMLS:C4023562 human_phenotype owl:Class HP:0011055 biolink:NamedThing Agenesis of permanent molar Agenesis of secondary molar tooth. hp0009lx5z Missing permanent molar|Failure of development of secondary molar|Agenesis of secondary molar|Missing adult molar|Failure of development of permanent molar|Absence of adult molar|Absence of permanent molar peter 2011-03-10T11:44:27Z UMLS:C4023563|UMLS:C4280347 human_phenotype owl:Class HP:0004453 biolink:NamedThing Overfolding of the superior helices A condition in which the superior portion of the helix is folded over to a greater degree than normal. hp0009lx5z Overfolding of superior helix UMLS:C1865304 human_phenotype owl:Class HP:0000396 biolink:NamedThing Overfolded helix A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. hp0009lx5z Over-folded helices|Overfolded ears|Overfolded helices This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable. HP:0008570|HP:0001758 UMLS:C1837731 human_phenotype owl:Class HP:0003862 biolink:NamedThing Absent humerus Missing humerus bone associated with congenital failure of development. hp0009lx5z Absent long bone in upper arm|Aplasia of the humerus|Aplastic humerus UMLS:C2678399 human_phenotype owl:Class HP:0005700 biolink:NamedThing Increased bone density with cystic changes hp0009lx5z UMLS:C4025151 human_phenotype owl:Class HP:0008734 biolink:NamedThing Decreased testicular size Reduced volume of the testicle (the male gonad). hp0009lx5z Small testis|Decreased testicular size|Hypoplastic testes|Small testes|Testicular hypoplasia HP:0000043 SNOMEDCT_US:276411001|UMLS:C0241355 owl:Class HP:0000050 biolink:NamedThing Hypoplastic male external genitalia Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). hp0009lx5z Small male external genitalia|Hypoplastic male genitalia|Underdeveloped male genitalia HP:0008710|HP:0008721 UMLS:C1852534 owl:Class HP:0032286 biolink:NamedThing Ultra-low vision with retained light perception Ultra-low vision but with retained ability to perceive the difference between light and dark. hp0009lx5z 2019-02-10 13:54:32+00:00 peter owl:Class HP:0032123 biolink:NamedThing Ultra-low vision Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590). hp0009lx5z 2018-11-18 14:06:19+00:00 peter owl:Class HP:0008477 biolink:NamedThing Poorly ossified cervical vertebrae Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set. hp0009lx5z UMLS:C4024670 human_phenotype owl:Class HP:0100856 biolink:NamedThing Poorly ossified vertebrae Decreased ossification of the vertebral bodies. hp0009lx5z doelkens 2011-11-30T09:59:32Z UMLS:C4021953 human_phenotype owl:Class HP:0040103 biolink:NamedThing Cutaneous stenosis of the external auditory canal hp0009lx5z HPO:skoehler UMLS:C4022438 owl:Class HP:0010074 biolink:NamedThing Triangular shaped 1st metatarsal hp0009lx5z Triangular shaped 1st long bone of foot doelkens 2009-05-29T12:13:57Z UMLS:C4024070 human_phenotype owl:Class HP:0030475 biolink:NamedThing Abnormal timing of dark-adapted dim flash electroretinogram hp0009lx5z UMLS:C4072965 owl:Class HP:0000869 biolink:NamedThing Secondary amenorrhea hp0009lx5z Previous menstrual periods stop SNOMEDCT_US:86030004|UMLS:C0232940 human_phenotype owl:Class HP:0012787 biolink:NamedThing Recurrent pyelonephritis Repeated episodes of pyelonephritis. hp0009lx5z peter 2014-04-22T09:24:10Z UMLS:C0748199 human_phenotype owl:Class HP:0041162 biolink:NamedThing Fractured foot bone A partial or complete breakage of the foot bone, such as the metatarsal or toe. hp0009lx5z Broken foot|Fractured pes|Metatarsal fracture|bone pes owl:Class HP:0012399 biolink:NamedThing Pressure ulcer A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips. hp0009lx5z Decubitus Ulcer|Pressure Sore|Pressure ulcer|Bedsore Pressure ulcers tend to affect persons with reduced mobility who are bedridden or wheelchair-bound. peter 2013-11-08T08:49:52Z SNOMEDCT_US:399912005|UMLS:C0011127|SNOMEDCT_US:420226006|MSH:D003668 human_phenotype owl:Class HP:0003454 biolink:NamedThing Platelet antibody positive The presence in the serum of autoantibodies directed against thrombocytes. hp0009lx5z Platelet antibody UMLS:C1858980 human_phenotype owl:Class HP:0012095 biolink:NamedThing Multiple joint dislocation Dislocation of many joints. hp0009lx5z Multiple joint dislocations peter 2012-08-20T09:19:52Z UMLS:C0332792|SNOMEDCT_US:287096003|SNOMEDCT_US:34277002 human_phenotype owl:Class HP:0030290 biolink:NamedThing Unossified sacrum Lack of ossification of the sacrum. hp0009lx5z Absence of sacrum ossification UMLS:C2675562 owl:Class HP:0031498 biolink:NamedThing Mucinous gastric carcinoma A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor. hp0009lx5z 2017-09-18 00:55:23+00:00 peter owl:Class HP:0031561 biolink:NamedThing Coronary cameral fistula to right ventricle An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle. hp0009lx5z 2017-09-29 11:29:11+00:00 peter owl:Class HP:0031560 biolink:NamedThing Coronary cameral fistula An abnormal communication between coronary artery and a cardiac chamber. hp0009lx5z 2017-09-29 11:27:41+00:00 Coronary cameral fistulas are usually congenital and asymptomatic in majority of patients. peter Fyler:2233 owl:Class HP:0007281 biolink:NamedThing Developmental stagnation A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. hp0009lx5z Developmental arrest HP:0007198|HP:0007130 UMLS:C1848980 human_phenotype owl:Class HP:0012202 biolink:NamedThing Increased serum bile acid concentration An increase in the concentration of bile acid in the blood. hp0009lx5z peter 2013-03-12T11:56:40Z UMLS:C4023004 human_phenotype owl:Class HP:0030984 biolink:NamedThing Abnormal serum bile acid concentration A deviation from the normal concentration of serum bile acid concentration. hp0009lx5z 2017-05-13 12:45:39+00:00 There are two major bile acids, cholic acid and chenodeoxycholic acid, which are synthesised in the hepatocyte by the cytochrome P450-mediated oxidation of cholesterol. These bile acids are secreted into the biliary canaliculi as sodium salts and conjugated with glycine, taurine, sulphate or glucuronic acid, and stored in the gall bladder until excreted into the intestinal lumen in response to a fatty meal. Enterohepatic circulation of bile salts is associated with conversion of the primary bile salts to seconday bile salts by bacerial enyzmes. The total bile pool of about 4 grams is recirculated about 5 to 10 times per day. Because serum bile salt concentration can increase by two to five times after a meal it is important that bile salts are measured while the subject is fasting. peter owl:Class HP:0032571 biolink:NamedThing Increased oocyte death An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization. hp0009lx5z peter owl:Class HP:0005766 biolink:NamedThing Disproportionate shortening of the tibia hp0009lx5z Disproportionate shortening of the shankbone|Disproportionate shortening of the shinbone|Marked shortening of tibia UMLS:C3806516 human_phenotype owl:Class HP:0040054 biolink:NamedThing Short upper eyelashes hp0009lx5z Decreased length of upper eyelashes|Short upper eyelashes HPO:skoehler UMLS:C4022464 owl:Class HP:0410342 biolink:NamedThing Increased circulating heparan sulfate level An abnormal increase in the concentration of heparan sulfate in the blood. hp0009lx5z Increased blood heparan sulphate concentration|Increased blood heparan sulfate concentration|Increased circulating heparan sulphate level owl:Class HP:0410341 biolink:NamedThing Abnormal circulating heparan sulfate level An abnormal level of heparan sulfate in the blood. hp0009lx5z Abnormality of the concentration of heparan sulfate in the blood|Abnormality of the concentration of heparan sulphate in the blood|Abnormal circulating heparan sulphate level owl:Class HP:0004863 biolink:NamedThing Compensated hemolytic anemia hp0009lx5z Compensated hemolytic anaemia UMLS:C4025283 human_phenotype owl:Class HP:0007480 biolink:NamedThing Decreased sweating due to autonomic dysfunction hp0009lx5z UMLS:C1868527 human_phenotype owl:Class HP:0006803 biolink:NamedThing Vivid hallucinations hp0009lx5z UMLS:C4024978 owl:Class HP:0030987 biolink:NamedThing Suppurative cholangitis Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess). hp0009lx5z 2017-05-13 13:33:51+00:00 A microbial infection is often for suppurative cholangitis, but the change also occurs in the presence of sterile bile, particularly after bile extravasation. The release of chemokines or cytokines is the likely cause in some cases. peter owl:Class HP:0033703 biolink:NamedThing Dysembryoplastic neuroepithelial tumor Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found hp0009lx5z DNT|DNET 2021-03-12 12:40:15+00:00 They are commonly found in the temporal lobe and may be associated with temporal lobe epilepsy. DNETs are sometimes found in association with focal cortical dysplasia and have both neuronal and glial features. peter owl:Class HP:0031416 biolink:NamedThing Abnormal nasal mucus secretion Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose. hp0009lx5z 2017-09-12 02:03:01+00:00 peter owl:Class HP:0001704 biolink:NamedThing Tricuspid valve prolapse One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. hp0009lx5z Fyler:1733|UMLS:C0040962|SNOMEDCT_US:253383003|MSH:D014263 human_phenotype owl:Class HP:0001810 biolink:NamedThing Dystrophic toenail Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. hp0009lx5z Poor toenail formation|Dystrophic toenail changes|Dystrophic toenails HP:0007558 UMLS:C1833225 human_phenotype owl:Class HP:0007395 biolink:NamedThing Postnatal-onset ichthyosiform erythroderma A type of ichthyosiform erythroderma with postnatal onset. hp0009lx5z Postnatal-onset ichthyosis UMLS:C4021576 human_phenotype owl:Class HP:0004887 biolink:NamedThing Respiratory failure requiring assisted ventilation A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. hp0009lx5z Respiratory distress necessitating mechanical ventilation|Respiratory distress requiring endotracheal intubation|Respiratory distress requiring mechanical ventilation HP:0004883 UMLS:C4025279 owl:Class HP:0100387 biolink:NamedThing Aplasia of the middle phalanges of the toes hp0009lx5z Absent middle toe bones doelkens 2010-11-11T04:55:30Z UMLS:C4022107 human_phenotype owl:Class HP:0008629 biolink:NamedThing Pulsatile tinnitus Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. hp0009lx5z Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus. HP:0000361 SNOMEDCT_US:232322006|UMLS:C0751559|MSH:D014012 owl:Class HP:0000360 biolink:NamedThing Tinnitus Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. hp0009lx5z Ringing in ears|Ringing in the ears MSH:D014012|UMLS:C0040264|SNOMEDCT_US:162352007|SNOMEDCT_US:162349004|SNOMEDCT_US:60862001 human_phenotype owl:Class HP:0009559 biolink:NamedThing Bullet-shaped distal phalanx of the 2nd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected. hp0009lx5z Bullet-shaped outermost bone of the index finger doelkens 2009-01-28T04:16:02Z UMLS:C4024292 human_phenotype owl:Class HP:0009548 biolink:NamedThing Bullet-shaped phalanges of the 2nd finger A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped index finger bones doelkens 2009-01-21T10:20:26Z UMLS:C4024300 human_phenotype owl:Class HP:0000356 biolink:NamedThing Abnormality of the outer ear An abnormality of the external ear. hp0009lx5z Malformed pinnae|External ear malformations|Abnormality of the outer ear|Abnormality of the external ear|Ear anomalies|Abnormal pinnae|Abnormality of the auricle|Outer ear abnormality HP:0001752 SNOMEDCT_US:275259005|UMLS:C0266589|UMLS:C1846460 human_phenotype owl:Class HP:0003911 biolink:NamedThing Flared humeral metaphysis Flaring (increase of width with a splayed appearance) of the humeral metaphysis. hp0009lx5z Flared humerus|Wide/broad humeral metaphysis|Flared wide portion of long bone of upper arm HP:0003925 UMLS:C4020835|UMLS:C4020912 human_phenotype owl:Class HP:0003849 biolink:NamedThing Flared upper limb metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm. hp0009lx5z Flared metaphyses of the upper limbs|Flared wide portion of the upper limb bone UMLS:C4021721 human_phenotype owl:Class HP:0012002 biolink:NamedThing Experiential epileptic aura Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. hp0009lx5z Experiential aura|Experiential auras hecht 2012-07-20T11:50:13Z UMLS:C4023087 owl:Class HP:0003126 biolink:NamedThing Low-molecular-weight proteinuria Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). hp0009lx5z Tubular proteinuria UMLS:C1839606 human_phenotype owl:Class HP:0007875 biolink:NamedThing Congenital blindness Blindness with onset at birth. hp0009lx5z Blindness present at birth|Congenital amaurosis HP:0007706 UMLS:C0005754|SNOMEDCT_US:95486002 owl:Class HP:0000618 biolink:NamedThing Blindness Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation. hp0009lx5z Total vision loss|Legal blindness|Blindness Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. HP:0007839 SNOMEDCT_US:65956007|UMLS:C0456909|MSH:D001766|Fyler:4866|UMLS:C0271215 owl:Class HP:0100452 biolink:NamedThing Osteolytic defects of the middle phalanx of the 3rd toe hp0009lx5z UMLS:C4022075 human_phenotype owl:Class HP:0031370 biolink:NamedThing Small intestinal perforation A hole (perforation) in the wall of the small intestine. hp0009lx5z 2017-09-02 01:30:46+00:00 peter owl:Class HP:0004273 biolink:NamedThing Cupped metaphyses of hand bones hp0009lx5z Cupped wide portion of hand bones|Cupped metaphysis of hand bones UMLS:C4025377 human_phenotype owl:Class HP:0005923 biolink:NamedThing Abnormalities of the metaphyses of the hand hp0009lx5z Abnormality of the wide portion of the hand bone peter 2008-03-27T02:27:00Z UMLS:C4025108 human_phenotype owl:Class HP:0009217 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 4th finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the middle bone of the ring finger doelkens 2009-01-05T05:23:59Z UMLS:C4024524 human_phenotype owl:Class HP:0006744 biolink:NamedThing Adrenocortical carcinoma A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. hp0009lx5z Adrenal gland carinoma|Adrenal carcinoma HP:0006759|HP:0002889 SNOMEDCT_US:255035007|MSH:D018268|SNOMEDCT_US:2227007|UMLS:C0206686|NCIT:C2916 human_phenotype owl:Class HP:0100641 biolink:NamedThing Neoplasm of the adrenal cortex The presence of a neoplasm of the adrenal cortex. hp0009lx5z Cortical adrenal neoplasia doelkens 2010-12-29T05:53:58Z SNOMEDCT_US:18365006|NCIT:C3262|UMLS:C0001618|SNOMEDCT_US:127022002|MSH:D000306 human_phenotype owl:Class HP:0004428 biolink:NamedThing Elfin facies This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. hp0009lx5z Leprechaun facies|Elf-like facial features|Elf-like facial appearance peter 2008-03-18T09:43:00Z SNOMEDCT_US:69288002|UMLS:C0332606 human_phenotype owl:Class HP:0012783 biolink:NamedThing Intralobar nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. hp0009lx5z Intralobar nephrogenic rests Intralobar nephrogenic rests are associated WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS). peter 2014-04-20T03:24:35Z UMLS:C1319016|SNOMEDCT_US:405934001 human_phenotype owl:Class HP:0100880 biolink:NamedThing Nephrogenic rest Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. hp0009lx5z Though NR are best known as precursors of Wilms tumor (WT), many alternative fates are observed, and most rests are destined for eventual atresia. Nephroblastomatosis refers to the presence of multifocal or diffuse nephrogenic rests. doelkens 2011-12-01T02:41:34Z SNOMEDCT_US:405933007|UMLS:C1320468 human_phenotype owl:Class HP:0005856 biolink:NamedThing Ulnar radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction. hp0009lx5z Ulnar dislocation of radial heads UMLS:C4021619 human_phenotype owl:Class HP:0011290 biolink:NamedThing EEG with frontal sharp slow waves EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. hp0009lx5z peter 2012-02-11T12:30:41Z UMLS:C4023426 human_phenotype owl:Class HP:0011195 biolink:NamedThing EEG with focal sharp slow waves EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. hp0009lx5z hecht 2011-11-19T11:02:29Z UMLS:C4023479 human_phenotype owl:Class HP:0025015 biolink:NamedThing Abnormal vascular morphology hp0009lx5z 2016-08-12 11:24:56+00:00 HPO:probinson owl:Class HP:0030680 biolink:NamedThing Abnormality of cardiovascular system morphology Any structural anomaly of the heart and great vessels. hp0009lx5z Cardiovascular malformations HP:0002565|HP:0001632|HP:0002564 UMLS:C4049796 owl:Class HP:0041222 biolink:NamedThing Fractured fibula A partial or complete breakage of the fibula. hp0009lx5z Fracture of the fibula|Broken fibula|bone fibula|Fibula fracture owl:Class HP:0010012 biolink:NamedThing Abnormality of the 4th metacarpal Any abnormality of the fourth metacarpal bone. hp0009lx5z Abnormality of the 4th long bone of hand doelkens 2009-05-27T03:35:21Z UMLS:C4024111 human_phenotype owl:Class HP:0008003 biolink:NamedThing Jerky ocular pursuit movements hp0009lx5z Jerky smooth pursuit HP:0007897 UMLS:C1853558 human_phenotype owl:Class HP:0005743 biolink:NamedThing Avascular necrosis of the capital femoral epiphysis Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. hp0009lx5z Osteochondrosis of the femoral head|Coxa plana|Osteonecrosis of the femoral head|Legg-Calve-Perthes syndrome|Perthes-like femoral head changes|Legg-Perthes disease|Morbus Legg-Calve-Perthes In medical parlance, this is often referred to as Legg Calve Perthes disease. Here, the name 'Avascular necrosis of the capital femoral epiphysis' is preferred to emphasize that the term refers to a phenotypic feature rather than a disease entity. Avascular necrosis of the femoral head may result in pain in the hip, limp, stiffness and reduced range of motion, and some degree of atrophy of the affected leg. The phrase Legg Perthes syndrome or Legg Calve Perthes disease is also used to refer to a number of diseases, including the idiopathic form and a form that is related to mutation in the COL2A1 gene (MIM 150600). Legg-Calve-Perthes disease usually occurs in boys 4 to 10 years old, and is clinically characterized by limping, hip stiffness, limited range of motion, and can result in restriction of growth of the affected leg and wasting of the muscles of the upper thigh. HP:0010887|HP:0003280|HP:0006448 SNOMEDCT_US:111255008|UMLS:C0023234|MSH:D007873|ICD-10:M91.1|SNOMEDCT_US:240241003 human_phenotype owl:Class HP:0000543 biolink:NamedThing Optic disc pallor A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. hp0009lx5z Disc pallor|Pale optic disc|Pale optic disk|Pale optic discs|Optic disk pallor|Optic disc pallor Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white. HP:0001484|HP:0001148 UMLS:C0554970|SNOMEDCT_US:302200001 owl:Class HP:0031462 biolink:NamedThing Musculotendinous retraction Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue. hp0009lx5z 2017-09-17 16:13:40+00:00 peter owl:Class HP:0000915 biolink:NamedThing Pectus excavatum of inferior sternum Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. hp0009lx5z Pectus excavatum inferiorly UMLS:C1864796 human_phenotype owl:Class HP:0000767 biolink:NamedThing Pectus excavatum A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. hp0009lx5z Funnel chest HP:0006613|HP:0006617 UMLS:C2051831|SNOMEDCT_US:391987005 human_phenotype owl:Class HP:0001931 biolink:NamedThing Hypochromic anemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. hp0009lx5z Hypochromic anaemia The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). SNOMEDCT_US:44452003|MSH:D000747|UMLS:C0002884 human_phenotype owl:Class HP:0007099 biolink:NamedThing Arnold-Chiari type I malformation Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. hp0009lx5z Chiari I malformation|Arnold Chiari type I malformation HP:0002440 SNOMEDCT_US:253185002|MSH:D001139|UMLS:C0750929 human_phenotype owl:Class HP:0002308 biolink:NamedThing Arnold-Chiari malformation Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. hp0009lx5z Chiari malformation SNOMEDCT_US:253184003|MSH:D001139|UMLS:C0003803 human_phenotype owl:Class HP:0006519 biolink:NamedThing Alveolar cell carcinoma Adenocarcinoma of the Bronchus. hp0009lx5z HP:0006757 SNOMEDCT_US:112677002|SNOMEDCT_US:36310008|SNOMEDCT_US:373627005|UMLS:C0007120|MSH:D002282 human_phenotype owl:Class HP:0000206 biolink:NamedThing Glossitis Inflammation of the tongue. hp0009lx5z Inflammation of the tongue|Smooth swollen tongue|Lingual inflammation MSH:D005928|SNOMEDCT_US:45534005|UMLS:C0017675 human_phenotype owl:Class HP:0004646 biolink:NamedThing Hypoplasia of the nasal bone Underdevelopment of the nasal bone. hp0009lx5z Small nasal bone|Deficiency of nasal bone|Nasal bone hypoplasia|Decreased size of nasal bone|Hypotrophic nasal bone|Underdevelopment of nasal bone UMLS:C4021651 human_phenotype owl:Class HP:0100614 biolink:NamedThing Myositis A general term for inflammation of the muscles without respect to the underlying cause. hp0009lx5z Muscle inflammation Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis. doelkens 2010-12-28T11:14:59Z UMLS:C0027121|SNOMEDCT_US:128496001|MSH:D009220|SNOMEDCT_US:26889001 human_phenotype owl:Class HP:0004699 biolink:NamedThing Osteoporotic metatarsal Decrease in mass and density of the metatarsal bones. hp0009lx5z UMLS:C1836873 human_phenotype owl:Class HP:0032501 biolink:NamedThing Exacerbated by contraceptive medication Applied to a sign or symptom that is worsened by taking contraceptive medication. hp0009lx5z Contraceptive pills aggravate symptoms 2019-05-23 22:53:32+00:00 peter owl:Class HP:0031806 biolink:NamedThing Abnormal basophil count Any deviation from the normal number of basophils per volume in the blood circulation. hp0009lx5z 2018-04-04 01:11:52+00:00 peter owl:Class HP:0001912 biolink:NamedThing Abnormal basophil morphology Any structural abnormality or abnormal count of basophils. hp0009lx5z Abnormality of basophils Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies. UMLS:C4025736 human_phenotype owl:Class HP:0003337 biolink:NamedThing Reduced prothrombin consumption The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. hp0009lx5z Poor prothrombin consumption HP:0008172 UMLS:C4021732 human_phenotype owl:Class HP:0031929 biolink:NamedThing Perivascular pseudorosette A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel. hp0009lx5z 2018-07-04 13:30:24+00:00 The modifier pseudo differentiates this pattern from the Homer Wright and Flexner-Wintersteiner rosettes, perhaps because the central structure is not actually formed by the tumor itself, but instead represents a native, non-neoplastic element. Also, some early investigators argued about the definition of a central lumen, choosing pseudo to indicate that the hub was not a true lumen but contained structures. Nevertheless, this pattern remains extremely diagnostically useful and the modifier unnecessarily leads to confusion. Perivascular pseudorosettes are encountered in most ependymomas regardless of grade or variant. peter owl:Class HP:0000734 biolink:NamedThing Disinhibition A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. hp0009lx5z Disinhibition Disinhibition affects motor, instinctual, emotional, cognitive and perceptual aspects with signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives. SNOMEDCT_US:247977003|UMLS:C0424296 owl:Class HP:0410239 biolink:NamedThing Positive urine norcotinine test Detection of norcotinine, a metabolite of nicotine, in urine. hp0009lx5z 2018-10-09 23:11:26+00:00 owl:Class HP:0012199 biolink:NamedThing Cluster headache A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs. hp0009lx5z According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D: B) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated. C) Headache is accompanied by at least 1 of the following: (i) Ipsilateral conjunctival injection and/or lacrimation. (ii) Ipsilateral nasal congestion and/or rhinorrhea. (iii) Ipsilateral eyelid edema. (iv) Ipsilateral forehead and facial sweating. (v) Ipsilateral miosis and/or ptosis. (vi) A sense of restlessness or agitation. D) Attacks have a frequency from 1 every other day to 8/day. Additionally, the headaches cannot attributed to another disorder. peter 2013-03-12T11:37:40Z SNOMEDCT_US:230473009|SNOMEDCT_US:193947008|MSH:D003027|ICD-10:G44.0|UMLS:C0009088|SNOMEDCT_US:193031009 human_phenotype owl:Class HP:3000003 biolink:NamedThing Abnormal mandibular ramus morphology An abnormality of a mandibular ramus. hp0009lx5z Abnormality of mandibular ramus vasilevs 2015-02-26T03:38:57Z UMLS:C4073212 human_phenotype owl:Class HP:0012852 biolink:NamedThing Hepatic bridging fibrosis Hepatic fibrosis that reaches from a portal area to another portal area. hp0009lx5z hecht 2014-06-07T09:27:43Z UMLS:C4022709 human_phenotype owl:Class HP:0010850 biolink:NamedThing EEG with spike-wave complexes Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). hp0009lx5z peter 2010-07-10T08:23:28Z UMLS:C4023683 human_phenotype owl:Class HP:0009109 biolink:NamedThing Denervation of the diaphragm Interruption of the innervation of the diaphragm. hp0009lx5z peter 2008-04-05T10:41:00Z UMLS:C1858529 human_phenotype owl:Class HP:0030825 biolink:NamedThing Absent foveal reflex Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. hp0009lx5z Foveal reflex absent|Loss of foveal reflex Absence of the foveal reflex can occur with macular edema, central serous retinopathy, or other macular abnormalities such as macular dystrophy. The macular reflex is often less pronounced in adults than in children, and may be absent in otherwise normal eyes of older individuals. SNOMEDCT_US:247144003|UMLS:C0423420 owl:Class HP:0033203 biolink:NamedThing Brachioradialis hyperreflexia Increased intensity of the brachioradialis reflex. hp0009lx5z 2020-10-11 14:29:43+00:00 The brachioradialis reflex is a deep tendon reflex involving the C5 and C6 nerve roots through its innervation by the radial nerve. To test brachioradialis reflex, the forearm is supported in a slightly pronated position. Then, the physician delivers a series of quick hits with the reflex hammer to the area of the styloid process of the radius at the point of brachioradialis insertion. peter owl:Class HP:0025381 biolink:NamedThing Anti-pituitary antibody positivity Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function. hp0009lx5z 2017-04-20 10:52:38+00:00 The presence of autoantibodies (immunoglobulins) in the serum that react against pituitary tissue. HPO:probinson owl:Class HP:0007448 biolink:NamedThing Hyperkeratosis over edematous areas hp0009lx5z UMLS:C1835253 human_phenotype owl:Class HP:0011186 biolink:NamedThing Focal epileptiform discharges with limited propagation to contralateral hemisphere Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization. hp0009lx5z hecht 2011-11-19T10:40:22Z UMLS:C4023488 human_phenotype owl:Class HP:0001991 biolink:NamedThing Aplasia/Hypoplasia of toe Absence or hypoplasia of toes. hp0009lx5z Absent/underdeveloped toe|Absent/hypoplastic toes|Aplastic/hypoplastic toe phalanges|Absent/small toe UMLS:C3551148 human_phenotype owl:Class HP:0100910 biolink:NamedThing Sclerosis of the proximal phalanx of the 4th finger hp0009lx5z Increased bone density in the innermost bone of the ring finger UMLS:C4021932 human_phenotype owl:Class HP:0002922 biolink:NamedThing Increased CSF protein Increased concentration of protein in the cerebrospinal fluid. hp0009lx5z Spinal fluid protein elevated|Elevated csf protein|Hyperproteinorrhachia|Elevated cerebrospinal fluid protein|Increased protein in csf|Cerebrospinal fluid with increased protein|Cerebrospinal fluid protein increased UMLS:C1806780 human_phenotype owl:Class HP:0500155 biolink:NamedThing Abnormal circulating asparagine concentration Any deviation from the normal concentration of asparagine in the blood circulation. hp0009lx5z Abnormality of asparagine metabolism 2018-10-05 15:06:56+00:00 Asparagine is a polar, aliphatic amino acid. owl:Class HP:0031788 biolink:NamedThing With the rule astigmatism Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest). hp0009lx5z 2018-01-28 13:33:42+00:00 peter owl:Class HP:0010003 biolink:NamedThing Partial duplication of the proximal phalanges of the hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. hp0009lx5z Partial duplication of the innermost bones of the hand doelkens 2009-05-26T03:55:29Z UMLS:C4024116 human_phenotype owl:Class HP:0100349 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 3rd toe The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. hp0009lx5z Camptodactyly of the 3rd toe UMLS:C4021018 human_phenotype owl:Class HP:0010044 biolink:NamedThing Short 4th metacarpal Short fourth metacarpal bone. hp0009lx5z Short 4th metacarpals|Short fourth metacarpals|Shortened 4th long bone of hand|Hypoplastic fourth metacarpal doelkens 2009-05-27T04:37:00Z HP:0005094 UMLS:C1840309 human_phenotype owl:Class HP:0031236 biolink:NamedThing Predominantly dermal neutrophilic infiltrate Collection of neutrophils in the dermis. hp0009lx5z 2017-07-02 19:38:07+00:00 peter owl:Class HP:0031234 biolink:NamedThing Neutrophilic infiltration of the skin A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin). hp0009lx5z 2017-07-02 19:34:51+00:00 peter owl:Class HP:0012676 biolink:NamedThing Copper accumulation in brain An anomalous build up of copper (Cu) in the brain. hp0009lx5z Copper accumulation in brain|Brain copper accumulation 2014-03-13T07:28:03Z UMLS:C4022787 human_phenotype owl:Class HP:0007104 biolink:NamedThing Prolonged somatosensory evoked potentials hp0009lx5z UMLS:C4024939 human_phenotype owl:Class HP:0012520 biolink:NamedThing Perivascular spaces Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. hp0009lx5z Dilated cerebral perivascular spaces|Dilatation of Virchow-Robin spaces|Dilated Virchow-Robin spaces Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through grey or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. peter 2013-12-09T07:17:47Z UMLS:C1853618|UMLS:C4020719 human_phenotype owl:Class HP:0009758 biolink:NamedThing Pyramidal skinfold extending from the base to the top of the nails Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome. hp0009lx5z peter 2009-01-31T09:08:49Z UMLS:C4024212 owl:Class HP:0005437 biolink:NamedThing Recurrent infections in infancy and early childhood Recurrent infections at an early age with improvement in later childhood. hp0009lx5z UMLS:C1844909 human_phenotype owl:Class HP:0031186 biolink:NamedThing Abnormal circulating deoxycorticosterone level An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone. hp0009lx5z 2017-06-21 10:39:27+00:00 peter owl:Class HP:0100045 biolink:NamedThing Bracket epiphyses of the 2nd toe hp0009lx5z Bracket shaped end part of 2nd toe bone doelkens 2010-06-24T09:58:18Z UMLS:C4022376 human_phenotype owl:Class HP:0002588 biolink:NamedThing Duodenal ulcer An erosion of the mucous membrane in a portion of the duodenum. hp0009lx5z SNOMEDCT_US:367474008|UMLS:C0013295|MEDDRA:10013836|MSH:D004381|SNOMEDCT_US:51868009 human_phenotype owl:Class HP:0012746 biolink:NamedThing Thin toenail Toenail that appears thin when viewed on end. hp0009lx5z Thin toenail|Thin toenails No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. peter 2014-03-23T05:34:43Z HP:0040038 UMLS:C3554113 human_phenotype owl:Class HP:0000713 biolink:NamedThing Agitation A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension. hp0009lx5z UMLS:C0085631|SNOMEDCT_US:24199005 human_phenotype owl:Class HP:0000031 biolink:NamedThing Epididymitis The presence of inflammation of the epididymis. hp0009lx5z UMLS:C0014534|MSH:D004823|SNOMEDCT_US:31070006 human_phenotype owl:Class HP:0008275 biolink:NamedThing Abnormal light-adapted electroretinogram hp0009lx5z Abnormal cone-mediated electroretinogram UMLS:C4024712 human_phenotype owl:Class HP:0031793 biolink:NamedThing Increased serum leptin An increased concentration of leptin in the blood. hp0009lx5z Elevated circulating leptin level 2018-02-25 14:05:58+00:00 peter owl:Class HP:0006454 biolink:NamedThing Delayed patellar ossification Formation of bone in the patella later than normal. hp0009lx5z Delayed patellae ossification|Delayed bone maturation of the knee cap The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (PMID:6729496). UMLS:C4280446|UMLS:C4021597 human_phenotype owl:Class HP:0031589 biolink:NamedThing Suicidal ideation Frequent thinking about or preoccupation with killing oneself. hp0009lx5z Suicidality 2017-10-14 13:24:50+00:00 peter owl:Class HP:0033390 biolink:NamedThing Bronchial artery dilatation Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm. hp0009lx5z Dilatation of a bronchial artery|Bronchial artery enlargement 2021-01-06 12:25:32+00:00 peter owl:Class HP:0033388 biolink:NamedThing Abnormal bronchial artery morphology Any structural abnormality of a bronchial artery. hp0009lx5z 2021-01-06 12:20:57+00:00 The bronchial arteries originate from the systemic circulation and supply the lungs with oxygenated blood. peter owl:Class HP:0011679 biolink:NamedThing Tetralogy of Fallot with pulmonary stenosis The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. hp0009lx5z peter 2012-04-10T07:44:06Z UMLS:C0344881|SNOMEDCT_US:253512000 human_phenotype owl:Class HP:0006743 biolink:NamedThing Embryonal rhabdomyosarcoma hp0009lx5z UMLS:C0206656|MSH:D018233|SNOMEDCT_US:14269005|SNOMEDCT_US:404051002|NCIT:C8971 human_phenotype owl:Class HP:0009720 biolink:NamedThing Adenoma sebaceum The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. hp0009lx5z Facial angiofibromas|Sebaceous adenomas|Sebaceous adenoma Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis. peter 2009-01-31T12:19:37Z SNOMEDCT_US:78424008|UMLS:C0265319|UMLS:C1368816|SNOMEDCT_US:36025004|MSH:D014402 human_phenotype owl:Class HP:0008666 biolink:NamedThing Impaired histidine renal tubular absorption hp0009lx5z UMLS:C4024642 human_phenotype owl:Class HP:0002912 biolink:NamedThing Methylmalonic acidemia Increased concentration of methylmalonic acid in the blood. hp0009lx5z Elevated circulating methylmalonic acid concentration Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. HP:0003123|HP:0008295 UMLS:C0268583|MSH:C537358|SNOMEDCT_US:42393006 owl:Class HP:0032368 biolink:NamedThing Acidemia An abnormally low blood pH (usually defined as less than 7.35). hp0009lx5z 2019-02-23 18:37:21+00:00 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. peter owl:Class HP:3000044 biolink:NamedThing Abnormality of frontal process of maxilla An abnormality of a frontal process of the maxilla bone. hp0009lx5z vasilevs 2015-08-07T01:04:49Z UMLS:C4073252 human_phenotype owl:Class HP:0100257 biolink:NamedThing Ectrodactyly A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. hp0009lx5z Cleft hand|Lobster claw hand Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen. doelkens 2010-07-15T03:56:58Z SNOMEDCT_US:13624003|UMLS:C0265554|SNOMEDCT_US:81208006|MSH:C574275 human_phenotype owl:Class HP:0033421 biolink:NamedThing Pulmonary artery intimal thickening Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%. hp0009lx5z 2021-01-09 17:29:20+00:00 peter owl:Class HP:0031636 biolink:NamedThing Anomalous origin of the right common carotid artery from the aorta The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta. hp0009lx5z 2017-12-17 12:31:37+00:00 peter owl:Class HP:0007274 biolink:NamedThing Recurrent bacterial meningitis An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. hp0009lx5z UMLS:C1845604 human_phenotype owl:Class HP:0006946 biolink:NamedThing Recurrent meningitis An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. hp0009lx5z UMLS:C0746495 human_phenotype owl:Class HP:0033851 biolink:NamedThing Oculomotor synkinesis Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction. hp0009lx5z 2021-06-02 18:07:36+00:00 peter owl:Class HP:0031014 biolink:NamedThing Arteria lusoria Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria. hp0009lx5z Aberrant right subclavian artery|Lusorian artery 2017-05-18 03:40:20+00:00 peter owl:Class HP:0007516 biolink:NamedThing Redundant skin on fingers Loose and sagging skin of the fingers. hp0009lx5z Extra skin on fingers UMLS:C4024856 human_phenotype owl:Class HP:0001582 biolink:NamedThing Redundant skin Loose and sagging skin often associated with loss of skin elasticity. hp0009lx5z Redundant skin folds|Loose redundant skin|Sagging, redundant skin HP:0007391 UMLS:C0581342|SNOMEDCT_US:201093004 human_phenotype owl:Class HP:0011457 biolink:NamedThing Loss of eyelashes This term refers to the loss of eyelashes that were previously present. hp0009lx5z Eyelashes fell out|Loss of eyelashes|Missing eyelashes|Ciliary Madarosis|Milphosis Common causes of loss of eyelashes include inflammation, autoimmunity, tumors,endocrine disorders, drugs and medications, and a number of congenital conditions. peter 2012-03-25T09:15:21Z SNOMEDCT_US:34887006|UMLS:C0271321 human_phenotype owl:Class HP:0031369 biolink:NamedThing Colon perforation A hole (perforation) in the wall of the colon. hp0009lx5z Perforation of the colon 2017-09-02 01:29:52+00:00 peter owl:Class HP:0032741 biolink:NamedThing Focal aware emotional seizure with paranoia Focal emotional seizure with paranoia in which awareness is retained throughout. hp0009lx5z peter owl:Class HP:0009337 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 3rd finger A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. hp0009lx5z Cone-shaped end part of the outermost bone of the middle finger doelkens 2009-01-12T11:18:33Z UMLS:C4024430 human_phenotype owl:Class HP:0009412 biolink:NamedThing Cone-shaped epiphyses of the 3rd finger A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. hp0009lx5z Cone-shaped end part of middle finger bone doelkens 2009-01-14T02:01:59Z UMLS:C4024381 human_phenotype owl:Class HP:0025415 biolink:NamedThing Bulbar urethral stricture A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis. hp0009lx5z 2017-04-23 11:17:53+00:00 HPO:probinson owl:Class HP:0012227 biolink:NamedThing Urethral stricture Narrowing of the urethra associated with inflammation or scar tissue. hp0009lx5z A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661). peter 2013-03-30T07:37:46Z SNOMEDCT_US:236647003|SNOMEDCT_US:76618002|UMLS:C0041974|MSH:D014525 human_phenotype owl:Class HP:0004029 biolink:NamedThing Lytic defects of radial diaphysis hp0009lx5z UMLS:C4025432 human_phenotype owl:Class HP:0004027 biolink:NamedThing Abnormality of radial diaphysis An anomaly of the radial diaphysis. hp0009lx5z UMLS:C4025434 human_phenotype owl:Class HP:0012224 biolink:NamedThing Circulating immune complexes Persistence of immune complexes in the blood circulation. hp0009lx5z Immune complexes are formed of interlocking antigens and antibodies and are normally are rapidly removed from the bloodstream by macrophages in the spleen and Kupffer cells in the liver. If they persist abnormally in the circulation, they may become trapped in various tissues and induce inflammatory reactions. peter 2013-03-30T07:27:21Z UMLS:C3887628 human_phenotype owl:Class HP:0011028 biolink:NamedThing Abnormality of blood circulation An abnormality of blood circulation. hp0009lx5z Blood circulation disorder peter 2011-03-03T10:25:21Z UMLS:C4020760|UMLS:C4023585 owl:Class HP:0031154 biolink:NamedThing Beaded vitreous appearance Vitreous humor of the eye displaying beaded bundles of irregular diameters. hp0009lx5z 2017-06-18 13:18:06+00:00 peter owl:Class HP:0011858 biolink:NamedThing Reduced factor IX activity Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. hp0009lx5z Low factor IX activity Severe deficiency of factor IX underlies hemophilia B. peter 2012-05-26T11:35:57Z UMLS:C4023159 owl:Class HP:0010536 biolink:NamedThing Central sleep apnea Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles. hp0009lx5z Central sleep apnoea peter 2009-09-21T08:57:02Z MSH:D020182|UMLS:C0520680 human_phenotype owl:Class HP:0025444 biolink:NamedThing Reduced amygdala volume A decrease in the volume (size) of the amygdyla. hp0009lx5z Decrease in amygdala volume 2017-04-29 21:34:14+00:00 HPO:probinson owl:Class HP:0033668 biolink:NamedThing Abnormal amygdala morphology A structural anomaly of the amygdala. hp0009lx5z Abnormal morphology of the amygdala 2021-02-28 14:53:43+00:00 The amygdala is a centrally located brain region that plays fundamental roles in human emotion, memory, and various homeostatic responses. Situated in the rostral part of the temporal lobe and abutting the basal forebrain, the human amygdala is closely connected with olfactory structures, the hippocampal formation, basal ganglia, basal forebrain components including ventral striatum and nucleus basalis, insula, claustrum, hypothalamus, and various thalamic nuclei. The amygdala contributes to white matter tracts that stream nearby, including the anterior commissure, inferior longitudinal fasciculus, stria terminalis, and uncinate fasciculus. peter owl:Class HP:0012535 biolink:NamedThing Abnormal synaptic transmission An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. hp0009lx5z Abnormality of neurotransmitter metabolism peter 2013-12-15T10:12:31Z UMLS:C4021083 owl:Class HP:0003125 biolink:NamedThing Reduced factor VIII activity Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. hp0009lx5z Factor VIII deficiency HP:0008355|HP:0008349 SNOMEDCT_US:234440005|MSH:D006467|UMLS:C4025649|UMLS:C3494187 human_phenotype owl:Class HP:0030976 biolink:NamedThing Abnormal factor VIII activity A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. hp0009lx5z 2017-05-10 22:59:20+00:00 robinp owl:Class HP:0033474 biolink:NamedThing 10-minute APGAR score of 6 hp0009lx5z 2021-01-09 22:45:57+00:00 peter owl:Class HP:0410358 biolink:NamedThing Decreased high-mannose N-glycan level An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins. hp0009lx5z Decreased high-mannose N-glycans on glycoprotein concentration owl:Class HP:0410356 biolink:NamedThing Abnormal high-mannose N-glycan level An abnormal concentration of high-mannose N-glycans on glycoproteins. hp0009lx5z Abnormal high-mannose N-glycans on glycoprotein concentration owl:Class HP:0031329 biolink:NamedThing Interstitial cardiac fibrosis A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. hp0009lx5z 2017-08-27 12:39:54+00:00 peter owl:Class HP:0001685 biolink:NamedThing Myocardial fibrosis Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. hp0009lx5z Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure. UMLS:C0151654 human_phenotype owl:Class HP:0011451 biolink:NamedThing Primary microcephaly Head circumference below 2 standard deviations below the mean for age and gender at birth. hp0009lx5z Small cranium present at birth|Small head present at birth|Congenital small head|Small head circumference present at birth|Microcephaly present at birth|Head circumference small for gestational age|Congenital small skull|Decreased head circumference present at birth|Small skull present at birth|Congenital small head circumference|Congenital decreased head circumference|Congenital microcephaly peter 2012-03-18T06:50:36Z UMLS:C4020749|UMLS:C2677180 owl:Class HP:0000252 biolink:NamedThing Microcephaly Head circumference below 2 standard deviations below the mean for age and gender. hp0009lx5z Decreased size of head|small cranium|Small head|small calvarium|Abnormally small skull|Abnormally small cranium|Decreased circumference of cranium|Small skull|Small head circumference|Decreased size of cranium|Decreased size of skull|Reduced head circumference|Abnormally small head Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition HP:0005497|HP:0001366|HP:0005489|HP:0005485 SNOMEDCT_US:271611007|UMLS:C4551563|Fyler:4310 owl:Class HP:0009855 biolink:NamedThing Osteolytic defects of the proximal phalanges of the hand hp0009lx5z Proximal phalanges osteolysis doelkens 2009-03-11T12:16:33Z HP:0006050|HP:0009867 UMLS:C1850148 human_phenotype owl:Class HP:0002530 biolink:NamedThing Axial dystonia A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. hp0009lx5z Truncal dystonia UMLS:C1836149 owl:Class HP:0025420 biolink:NamedThing Diffuse alveolar hemorrhage A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. hp0009lx5z Diffuse alveolar haemorrhage 2017-04-23 12:16:52+00:00 Diffuse alveolar hemorrhage is a life-threatening and medical emergency that can be caused by numerous disorders and presents with hemoptysis, anemia, and diffuse alveolar infiltrates. HPO:probinson owl:Class HP:0000255 biolink:NamedThing Acute sinusitis An acute form of sinusitis. hp0009lx5z UMLS:C0149512|SNOMEDCT_US:15805002 human_phenotype owl:Class HP:0030162 biolink:NamedThing Glomerulomegaly Abnormally large size of glomeruli. hp0009lx5z Glomerulomegaly is a histologic finding that can be present in idiopathic pulmonary hypertension, congenital cyanotic heart disease, morbid obesity associated with sleep apnea syndrome, sickle cell disease, and polycythemic states. UMLS:C4022604 owl:Class HP:0100036 biolink:NamedThing Pseudo-fractures A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture. hp0009lx5z Looser zones Typical sites of involvement are the axillary margins of the scapula, ribs, pubic rami, proximal ends of the femur and ulna. On x-rays pseudo-fractures appear as a lucent line about 1 -2 cm wide, vertical to the cortex and are pathognomonic of osteomalacia, seen on the concave side and are also seen in Paget disease on the convex side of the bone. doelkens 2010-06-14T05:25:53Z UMLS:C4021028 human_phenotype owl:Class HP:0031627 biolink:NamedThing Globus pallidus calcification Pathological deposition of calcium salts in the globus pallidus. hp0009lx5z 2017-12-17 00:15:04+00:00 peter owl:Class HP:0500147 biolink:NamedThing Hypoglutaminemia Decreased amount of glutamine in the blood. hp0009lx5z Low blood glutamine level|Decreased blood glutamine concentration 2018-10-04 14:11:16+00:00 owl:Class HP:0100477 biolink:NamedThing Symphalangism affecting the distal phalanx of the 4th toe hp0009lx5z Fused outermost bone of the 4th toe UMLS:C4022050 human_phenotype owl:Class HP:0002383 biolink:NamedThing Encephalitis hp0009lx5z Brain inflammation SNOMEDCT_US:45170000|MSH:D004660|UMLS:C0014038 human_phenotype owl:Class HP:0100919 biolink:NamedThing Sclerosis of 3rd finger phalanx An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in middle finger bone|Sclerosis of the phalanges of the 3rd finger UMLS:C4020936 human_phenotype owl:Class HP:0009407 biolink:NamedThing Triangular shaped phalanges of the 4th finger Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped bone of ring finger doelkens 2009-01-13T02:37:29Z UMLS:C4024385 human_phenotype owl:Class HP:0100463 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 5th toe Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Uneven increase in bone density in the middle bone of the pinky toe|Uneven increase in bone density in the middle bone of the little toe|Uneven increase in bone density in the middle bone of the pinkie toe UMLS:C4022064 human_phenotype owl:Class HP:0100444 biolink:NamedThing Curved middle phalanx of the 4th toe A deviation from the normal straight form of the middle phalanx of the fourth toe. hp0009lx5z Curved middle bone of 4th toe UMLS:C4022083 human_phenotype owl:Class HP:0010381 biolink:NamedThing Abnormality of the middle phalanx of the 4th toe hp0009lx5z Abnormality of middle 4th toe bone doelkens 2009-07-16T11:51:46Z UMLS:C4023869 human_phenotype owl:Class HP:0008449 biolink:NamedThing Progressive cervical vertebral spine fusion hp0009lx5z UMLS:C1851129 human_phenotype owl:Class HP:0002949 biolink:NamedThing Fused cervical vertebrae A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. hp0009lx5z Cervical vertebral fusion|Fusion of cervical vertebrae|Fused neck|Cervical spine fusion UMLS:C3887527 human_phenotype owl:Class HP:0000526 biolink:NamedThing Aniridia Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. hp0009lx5z Absent iris HP:0011498 SNOMEDCT_US:69278003|MSH:D015783|UMLS:C0003076 human_phenotype owl:Class HP:0008053 biolink:NamedThing Aplasia/Hypoplasia of the iris Absence or underdevelopment of the iris. hp0009lx5z Absent/underdeveloped iris|Absent/small iris peter 2008-04-02T01:50:00Z UMLS:C4024748 human_phenotype owl:Class HP:0009581 biolink:NamedThing Broad proximal phalanx of the 2nd finger Increased width of the proximal phalanx of the 2nd finger. hp0009lx5z Wide innermost bone of index finger|Wide/broad proximal index finger phalanx doelkens 2009-01-28T05:26:39Z HP:0004126 UMLS:C4021434 human_phenotype owl:Class HP:0011421 biolink:NamedThing Death in adolescence Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years). hp0009lx5z Death in adolescence peter 2012-03-16T06:38:44Z UMLS:C4023368 owl:Class HP:0012414 biolink:NamedThing Duodenal atrophy Wasting or decrease in size of all or part of the duodenum. hp0009lx5z peter 2013-11-10T12:20:19Z UMLS:C4022911 human_phenotype owl:Class HP:0030645 biolink:NamedThing Central Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. hp0009lx5z UMLS:C0205099|SNOMEDCT_US:26216008 owl:Class HP:0002570 biolink:NamedThing Steatorrhea Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. hp0009lx5z Fat in faeces|Fatty stool|Fat in feces UMLS:C0038238|MSH:D045602|SNOMEDCT_US:66187002|SNOMEDCT_US:27868004 owl:Class HP:0002630 biolink:NamedThing Fat malabsorption Abnormality of the absorption of fat from the gastrointestinal tract. hp0009lx5z UMLS:C0554103|SNOMEDCT_US:197494007 human_phenotype owl:Class HP:0009424 biolink:NamedThing Osteolytic defects of the distal phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger. hp0009lx5z Lytic defect of terminal phalanx of middle finger doelkens 2009-01-14T03:16:46Z HP:0004181 UMLS:C4021478 human_phenotype owl:Class HP:0041049 biolink:NamedThing Starch intolerance An inability to digest starch. hp0009lx5z Starch intolerance|Amylose-amylopectin intolerance owl:Class HP:0100460 biolink:NamedThing Osteolytic defects of the distal phalanx of the 5th toe hp0009lx5z Osteolytic defects of the outermost bone of the 5th toe UMLS:C4022067 human_phenotype owl:Class HP:0010795 biolink:NamedThing Cerebellar glioma A glioma affecting the cerebellum. hp0009lx5z peter 2010-06-25T09:08:32Z UMLS:C4023700 human_phenotype owl:Class HP:0004023 biolink:NamedThing Sloping radial metaphysis hp0009lx5z UMLS:C4025437 human_phenotype owl:Class HP:0005564 biolink:NamedThing Absence of renal corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. hp0009lx5z Absent renal corticomedullary differentiation|Loss of corticomedullary differentiation HP:0005581 UMLS:C1849765 human_phenotype owl:Class HP:0005932 biolink:NamedThing Abnormal renal corticomedullary differentiation An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. hp0009lx5z On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection. peter 2008-03-27T03:21:00Z UMLS:C4025102 human_phenotype owl:Class HP:0010634 biolink:NamedThing Total hyposmia Reduced ability to detect any qualitative olfactory sensation. hp0009lx5z peter 2009-12-06T07:54:13Z UMLS:C4023766 owl:Class HP:0001930 biolink:NamedThing Nonspherocytic hemolytic anemia hp0009lx5z Nonspherocytic hemolytic anaemia UMLS:C4025735 human_phenotype owl:Class HP:0030389 biolink:NamedThing Abnormal circulating thromboxane concentration Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. hp0009lx5z UMLS:C4072926 owl:Class HP:0030361 biolink:NamedThing Abnormal circulating eicosanoid concentration Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid). hp0009lx5z Abnormality of icosanoid metabolism The icosanoids include the prostaglandins, prostacyclins, thromboxanes, leukotrienes, and epoxyeicosatrienoic acids. Icosanoids have various roles in processes that regulate inflammation, fever, blood pressure, blood clotting, immune system function, reproductive processes and tissue growth, and the sleep/wake cycle. UMLS:C4072901 owl:Class HP:0031935 biolink:NamedThing Ascending aorta hypoplasia Significant luminal narrowing of a long segment of or the entire ascending aorta. hp0009lx5z 2018-07-04 20:46:37+00:00 Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta. peter owl:Class HP:0200026 biolink:NamedThing Ocular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. hp0009lx5z Eye pain sebastiankohler 2010-06-16T07:39:04Z SNOMEDCT_US:41652007|UMLS:C0151827|MSH:D058447 human_phenotype owl:Class HP:0011248 biolink:NamedThing Everted antitragus Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear). hp0009lx5z peter 2011-12-18T12:11:37Z UMLS:C4023444 human_phenotype owl:Class HP:0100053 biolink:NamedThing Stippling of the epiphyses of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe. hp0009lx5z Speckled calcifications in the end part of the 2nd toe bone doelkens 2010-06-24T09:58:18Z UMLS:C4022368 human_phenotype owl:Class HP:0010425 biolink:NamedThing Partial duplication of the distal phalanx of the 2nd toe Partial duplication of the distal phalanx of second toe. hp0009lx5z Partial duplication of the outermost bone of the 2nd toe doelkens 2009-07-16T12:57:27Z UMLS:C4023834 human_phenotype owl:Class HP:0004752 biolink:NamedThing Congenital atrioventricular dissociation A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset. hp0009lx5z UMLS:C4025299 human_phenotype owl:Class HP:0011709 biolink:NamedThing Atrioventricular dissociation Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance. hp0009lx5z Atrioventricular dissociation can develop in response to severe sinus bradycardia with AV junctional rhythm or with an enhanced lower (junctional or ventricular) pacemaker that competes with the normal sinus rhythm and exceeds it. peter 2012-04-11T07:46:37Z UMLS:C0004331|SNOMEDCT_US:50799005|MSH:D006327 human_phenotype owl:Class HP:0007045 biolink:NamedThing Midline brain calcifications hp0009lx5z UMLS:C1855487 human_phenotype owl:Class HP:0010522 biolink:NamedThing Dyslexia A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). hp0009lx5z Reading disability peter 2009-09-20T11:19:24Z HP:0006871 SNOMEDCT_US:52824009|UMLS:C0476254|MSH:D004410|SNOMEDCT_US:59770006|SNOMEDCT_US:9236007 human_phenotype owl:Class HP:5000007 biolink:NamedThing Anti-DPPX antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX). hp0009lx5z Anti-dipeptidyl-peptidase-like protein 6 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0030283 biolink:NamedThing Partial absence of the septum pellucidum Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain. hp0009lx5z UMLS:C1827299|SNOMEDCT_US:422474003 owl:Class HP:0007375 biolink:NamedThing Abnormality of the septum pellucidum An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. hp0009lx5z peter 2008-04-01T10:48:00Z UMLS:C4024894 human_phenotype owl:Class HP:0000227 biolink:NamedThing Tongue telangiectasia Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. hp0009lx5z Lingual telangiectasia|Spider veins of the tongue|Angioectasias of the tongue|Lingual angioectasias UMLS:C4280668|UMLS:C4025878 human_phenotype owl:Class HP:0007556 biolink:NamedThing Plantar hyperkeratosis Hyperkeratosis affecting the sole of the foot. hp0009lx5z Plantar hyperkeratoses HP:0007382|HP:0007445 UMLS:C1856954 human_phenotype owl:Class HP:0007583 biolink:NamedThing Telangiectasia macularis eruptiva perstans hp0009lx5z UMLS:C0263402|SNOMEDCT_US:8214000 human_phenotype owl:Class HP:0002385 biolink:NamedThing Paraparesis Weakness or partial paralysis in the lower limbs. hp0009lx5z Partial paralysis of legs Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity. UMLS:C0221166|MSH:D020335|SNOMEDCT_US:1845001 human_phenotype owl:Class HP:0031356 biolink:NamedThing Terminal insomnia A type of insomnia characterized by waking up (too) early in the morning. hp0009lx5z Late insomnia 2017-08-27 15:04:51+00:00 peter owl:Class HP:0030566 biolink:NamedThing Best corrected visual acuity 1.3 LogMAR hp0009lx5z UMLS:C4073039 owl:Class HP:0009571 biolink:NamedThing Curved middle phalanx of the 2nd finger Curved appearance of the middle phalanx of the 2nd finger. hp0009lx5z Curved middle bone of the index finger doelkens 2009-01-28T05:10:24Z UMLS:C4024286 human_phenotype owl:Class HP:0006951 biolink:NamedThing Retrocerebellar cyst hp0009lx5z UMLS:C1845370 human_phenotype owl:Class HP:0500198 biolink:NamedThing Decreased CSF glutamine concentration Abnormally decreased levels of glutamine in cerebrospinal fluid. hp0009lx5z Low glutamine levels in cerebrospinal fluid 2019-02-25 16:43:22+00:00 owl:Class HP:0500196 biolink:NamedThing Abnormal CSF glutamine concentration Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid. hp0009lx5z Abnormal glutamine levels in cerebrospinal fluid 2019-02-25 16:42:34+00:00 owl:Class HP:0012573 biolink:NamedThing Global proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. hp0009lx5z peter 2014-01-16T12:27:40Z UMLS:C4022839 human_phenotype owl:Class HP:0000114 biolink:NamedThing Proximal tubulopathy Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. hp0009lx5z Selective proximal tubular damage|Proximal renal tubule defect|Proximal tubular defect|Proximal tubule dysfunction|Proximal renal tubulopathy HP:0000806 UMLS:C1839603 human_phenotype owl:Class HP:0008258 biolink:NamedThing Congenital adrenal hyperplasia A type of adrenal hyperplasia with congenital onset. hp0009lx5z SNOMEDCT_US:237751000|UMLS:C0001627|MSH:D000312 human_phenotype owl:Class HP:0008221 biolink:NamedThing Adrenal hyperplasia Enlargement of the adrenal gland. hp0009lx5z Enlarged adrenal glands UMLS:C1621895|SNOMEDCT_US:419920004 human_phenotype owl:Class HP:0000753 biolink:NamedThing Autism with high cognitive abilities hp0009lx5z UMLS:C4025832 human_phenotype owl:Class HP:0003941 biolink:NamedThing Stippled calcification of the elbow hp0009lx5z UMLS:C4025493 human_phenotype owl:Class HP:0005987 biolink:NamedThing Multinodular goiter Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. hp0009lx5z Multinodular goitre UMLS:C0342208|SNOMEDCT_US:237570007 human_phenotype owl:Class HP:0031734 biolink:NamedThing Lacrimal pump failure A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion. hp0009lx5z 2018-01-21 13:36:29+00:00 peter owl:Class HP:0010602 biolink:NamedThing Type 2 muscle fiber predominance An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). hp0009lx5z Type II muscle fiber predominance|Type II muscle fibre predominance|Type 2 muscle fibre predominance peter 2009-10-25T09:56:24Z UMLS:C3277187 owl:Class HP:0011924 biolink:NamedThing Decreased activity of mitochondrial complex III A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. hp0009lx5z Respiratory complex III deficiency peter 2012-06-08T09:04:26Z UMLS:C3149083|UMLS:C4020738 human_phenotype owl:Class HP:0008972 biolink:NamedThing Decreased activity of mitochondrial respiratory chain Decreased activity of the mitochondrial respiratory chain. hp0009lx5z Decreased activities of mitochondrial-encoded respiratory chain complexes|Decreased activity of mitochondrial respiratory complexes UMLS:C4024609|UMLS:C1835995|UMLS:C3276441 human_phenotype owl:Class HP:0007561 biolink:NamedThing Telangiectases in sun-exposed and nonexposed skin hp0009lx5z UMLS:C1868184 human_phenotype owl:Class HP:0100790 biolink:NamedThing Hernia hp0009lx5z Hernias doelkens 2011-06-08T02:33:37Z SNOMEDCT_US:52515009|MSH:D006547|UMLS:C0019270|SNOMEDCT_US:414403008 human_phenotype owl:Class HP:0031261 biolink:NamedThing Bladder polyp An abnormal growth that projects from the mucous membrane of the urinary bladder. hp0009lx5z 2017-08-12 16:13:31+00:00 peter owl:Class HP:0025637 biolink:NamedThing Vasospasm Narrowing of an artery due to constriction of the blood vessels. hp0009lx5z Vascular spasm|Angiospasm|Blood vessel spasm 2019-04-26 17:51:29+00:00 HPO:probinson owl:Class HP:0007947 biolink:NamedThing Pericentral retinitis pigmentosa A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. hp0009lx5z UMLS:C1849398|MSH:C564838 human_phenotype owl:Class HP:0000510 biolink:NamedThing Rod-cone dystrophy An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. hp0009lx5z Retinitis pigmentosa|Rod cone dystrophy Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. HP:0001127|HP:0007635|HP:0007742|HP:0008036|HP:0007645|HP:0000547|HP:0007826|HP:0007816|HP:0007927 MSH:D012174|SNOMEDCT_US:28835009|UMLS:C0035334 human_phenotype owl:Class HP:0100137 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 3rd toe hp0009lx5z Cone-shaped end part of the outermost bone of the 3rd toe doelkens 2010-06-24T10:23:44Z UMLS:C4022284 human_phenotype owl:Class HP:0100057 biolink:NamedThing Cone-shaped epiphyses of the 3rd toe hp0009lx5z Cone-shaped end part of the 3rd toe bone doelkens 2010-06-24T09:58:55Z UMLS:C4022364 human_phenotype owl:Class HP:0030482 biolink:NamedThing Abnormal timing of light-adapted single flash electroretinogram hp0009lx5z UMLS:C4072972 owl:Class HP:0030472 biolink:NamedThing Abnormal light-adapted single flash electroretinogram hp0009lx5z UMLS:C4072962 owl:Class HP:0033157 biolink:NamedThing Elevated circulating 3-methylhistidine concentration Abnormal increase of the concentration of 3-methylhistidine in the blood circulation. hp0009lx5z 2020-09-20 12:20:55+00:00 The rate of myofibrillar protein breakdown may be estimated from the urinary excretion of 3-methylhistidine. This amino acid is formed by the methylation of peptide-bound histidine in actin and myosin, is excreted in the urine when these proteins are broken down, and is not reused for protein synthesis. peter owl:Class HP:0031875 biolink:NamedThing Abnormal hepcidin level Any deviation from the normal concentration of hepcidin in the blood circulation. hp0009lx5z 2018-05-06 14:11:07+00:00 Hepcidin, a 25-amino acid peptide exclusively synthesized by the liver, is the main iron regulatory hormone. peter owl:Class HP:5000033 biolink:NamedThing Anti-SOX1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells. hp0009lx5z Anti-Sry-like high mobility group box (SOX) 1 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0020081 biolink:NamedThing Pappenheimer bodies A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain). hp0009lx5z 2019-02-25 13:56:37+00:00 robinp owl:Class HP:0007401 biolink:NamedThing Macular atrophy Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. hp0009lx5z SNOMEDCT_US:238828009|MSH:D057088|UMLS:C1288283 human_phenotype owl:Class HP:0025039 biolink:NamedThing Basal ganglia edema Swelling within the basal ganglia due to the accumulation of fluid. hp0009lx5z Edema of the basal ganglia|Oedema of the basal ganglia|Basal ganglia oedema 2016-09-25 14:00:54+00:00 HPO:probinson owl:Class HP:0009928 biolink:NamedThing Thick nasal alae Increase in bulk of the ala nasi. hp0009lx5z Ala nasi, thick|Thickening of the alae nasi peter 2009-05-05T06:47:43Z UMLS:C1844809 human_phenotype owl:Class HP:0032165 biolink:NamedThing Placental mesenchymal dysplasia Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees. hp0009lx5z 2018-12-09 14:14:16+00:00 Histologically, placental mesenchymal dysplas (PMD) shows enlarged edematous stem villi with dilated vessels and absent trophoblastic proliferation. Cisterns may be seen within stem villi. The vessels are thick walled, with fibromuscular hyperplasia. Terminal villi are usually normal. The edematous stem villous stroma stains for Alcian blue, but is negative for smooth muscle actin, which shows positive staining of normal villous stroma. Staining for desmin and vimentin is retained in PMD, similarly to normal villous stroma. peter owl:Class HP:0500224 biolink:NamedThing Decreased CSF phenylalanine concentration Abnormally decreased levels of phenylalanine in cerebrospinal fluid. hp0009lx5z Low phenylalanine levels in cerebrospinal fluid 2019-02-25 20:13:51+00:00 owl:Class HP:0500215 biolink:NamedThing Abnormal CSF phenylalanine concentration Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. hp0009lx5z Abnormal phenylalanine levels in cerebrospinal fluid 2019-02-25 19:28:51+00:00 owl:Class HP:0008347 biolink:NamedThing Decreased activity of mitochondrial complex IV A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. hp0009lx5z Respiratory complex IV deficiency UMLS:C4020800 human_phenotype owl:Class HP:0012577 biolink:NamedThing Thin glomerular basement membrane Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. hp0009lx5z This finding is demonstrated on renal biopsy. peter 2014-01-16T01:21:17Z UMLS:C3276821 owl:Class HP:0003467 biolink:NamedThing Atlantoaxial instability Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. hp0009lx5z Neurological deficits ensue if the odontoid process, or posterior arch of the atlas, impinges on the spinal cord. SNOMEDCT_US:202820009|UMLS:C0410653 human_phenotype owl:Class HP:0003413 biolink:NamedThing Atlantoaxial abnormality An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. hp0009lx5z UMLS:C4025617 owl:Class HP:0033600 biolink:NamedThing Fibrillary glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). hp0009lx5z 2021-01-30 14:47:50+00:00 peter owl:Class HP:0100157 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 3rd toe hp0009lx5z Absent end part of the innermost bone of the 3rd toe doelkens 2010-06-24T10:24:45Z UMLS:C4022264 human_phenotype owl:Class HP:0020146 biolink:NamedThing Calcium carbonate crystalluria The presence of calcium carbonate crystals in the urine. hp0009lx5z Calcium carbonate crystals usually appear as clumped granules. robinp 2019-07-05 19:11:59+00:00 owl:Class HP:0005198 biolink:NamedThing Stiff interphalangeal joints Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity. hp0009lx5z Stiff hinge joints UMLS:C4025237 human_phenotype owl:Class HP:0011838 biolink:NamedThing Sclerodactyly Localized thickening and tightness of the skin of the fingers or toes. hp0009lx5z peter 2012-05-06T10:04:27Z UMLS:C0150988|ICD-10:L94.3|SNOMEDCT_US:201051000|SNOMEDCT_US:298285004 human_phenotype owl:Class HP:0001072 biolink:NamedThing Thickened skin Laminar thickening of skin. hp0009lx5z Pachydermia|Thickened skin|Diffusely thickened skin|Thick skin HP:0007393 SNOMEDCT_US:69943009|MEDDRA:10040936|UMLS:C0334008|SNOMEDCT_US:17417006|UMLS:C4020878 human_phenotype owl:Class HP:0025532 biolink:NamedThing Positive pathergy test With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result. hp0009lx5z 2017-05-18 00:41:57+00:00 A positive pathergy test indicates the immune system is overreacting to a minor injury. A positive test result can be seen in Behcet disease and other conditions. HPO:probinson owl:Class HP:0011122 biolink:NamedThing Abnormality of skin physiology Any abnormality of the physiological function of the skin. hp0009lx5z Abnormality of skin physiology peter 2011-06-12T10:05:14Z UMLS:C4023527 human_phenotype owl:Class HP:0032058 biolink:NamedThing Focal cortical dysplasia type IIId A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections. hp0009lx5z 2018-09-16 11:25:19+00:00 peter owl:Class HP:0007634 biolink:NamedThing Nonarteritic anterior ischemic optic neuropathy An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. hp0009lx5z Nonarteritic anterior ischaemic optic neuropathy Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased colour vision, a relative afferent pupillary defect, and optic disc swelling. UMLS:C1852242 human_phenotype owl:Class HP:0001138 biolink:NamedThing Optic neuropathy hp0009lx5z Damaged optic nerve HP:0007806 UMLS:C3887709|SNOMEDCT_US:82108004 human_phenotype owl:Class HP:0030024 biolink:NamedThing Pretragal ectopia Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. hp0009lx5z Extra cartilage in front of the ear|Pretragal Duplication|Accessory Tragus Pretragal ectopia refers to structures that are frequently complex and should be distinguished from preauricular tags. They may be difficult to distinguish from striated muscle hamartomas or tragal duplications. Pretragal ectopias often appear helix-like, and in such cases may be called Polyotia. SNOMEDCT_US:204245004|UMLS:C0266609 owl:Class HP:0032640 biolink:NamedThing Elevated circulating CCL18 level An increased concentration of C-C motif chemokine ligand 18 in the blood circulation. hp0009lx5z Increased C-C motif chemokine ligand 18 concentration peter owl:Class HP:0006962 biolink:NamedThing Gait instability, worse in the dark hp0009lx5z Unstable walking, worse in the dark UMLS:C1837016 human_phenotype owl:Class HP:0002317 biolink:NamedThing Unsteady gait hp0009lx5z Gait instability|Unsteady walk SNOMEDCT_US:394616008|SNOMEDCT_US:22631008|UMLS:C0231686|MSH:D020233 human_phenotype owl:Class HP:0006668 biolink:NamedThing Twelfth rib hypoplasia hp0009lx5z Underdeveloped twelfth rib|Small twelfth rib UMLS:C1859361 human_phenotype owl:Class HP:0032747 biolink:NamedThing Focal impaired awareness emotional seizure with pleasure Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0032729 biolink:NamedThing Focal emotional seizure with pleasure Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy. hp0009lx5z This is a rare seizure type, seen in seizures arising in the anterior insular cortex. peter owl:Class HP:0012051 biolink:NamedThing Reactive hypoglycemia Hypoglycermia following a meal (or more generally, after intake of glucose). hp0009lx5z Postprandial hypoglycemia|Low blood sugar after a meal Reactive hypoglycemia may be the result of an exaggerated insulin response. peter 2012-08-01T12:57:57Z UMLS:C0271710|SNOMEDCT_US:237638000|SNOMEDCT_US:317006|MSH:D007003 human_phenotype owl:Class HP:0030831 biolink:NamedThing Rhonchi Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. hp0009lx5z Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less. UMLS:C0035508|MSH:D012135|SNOMEDCT_US:24612001 owl:Class HP:0033500 biolink:NamedThing Subendothelial glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. hp0009lx5z 2021-01-10 13:41:11+00:00 The glomerular filtration barrier consists of two cells (podocytes and endothelial cells) and the glomerular basement membrane (GBM), a specialized extracellular matrix that lies between them. peter owl:Class HP:0033499 biolink:NamedThing Glomerular basement membrane electron dense deposits Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. hp0009lx5z 2021-01-10 13:35:30+00:00 See Figure 1 of PMID:33329990 for an example. peter owl:Class HP:0100243 biolink:NamedThing Leiomyosarcoma A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma. hp0009lx5z doelkens 2010-07-08T10:49:35Z SNOMEDCT_US:443719001|NCIT:C3158|UMLS:C0023269|MSH:D007890|SNOMEDCT_US:51549004 human_phenotype owl:Class HP:0031876 biolink:NamedThing Decreased hepcidin level An abnormally reduced concentration of hepcidin in the blood circulation. hp0009lx5z 2018-05-06 14:13:09+00:00 peter owl:Class HP:0030010 biolink:NamedThing Hydrometrocolpos Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. hp0009lx5z Usually hydrometrocolpos manifests at puberty caused by an obstruction of the female genital tract.The most frequent cause of hydrometrocolpos is the presence of imperforate hymen due to failure of partial resorption of this membrane during the embryonic development. SNOMEDCT_US:60023006|UMLS:C0269209 owl:Class HP:0009185 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 5th finger Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. hp0009lx5z peter 2008-12-29T04:16:58Z HP:0005047|HP:0006062 UMLS:C3554612 human_phenotype owl:Class HP:0006596 biolink:NamedThing Restricted chest movement hp0009lx5z Restricted chest movement UMLS:C4025015 human_phenotype owl:Class HP:0033322 biolink:NamedThing Glomerular capillary wall duplication without cellular interposition Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. hp0009lx5z 2020-11-29 13:59:59+00:00 peter owl:Class HP:0005274 biolink:NamedThing Prominent nasal tip hp0009lx5z Prominent nasal tip|Hypertrophy of nasal tip|Large nasal tip|Hyperplasia of tip of nose|Pronounced tip of nose|Large tip of nose|Bulbous tip of nose|Hyperplasia of nasal tip|Pronounced nasal tip|Prominent tip of nose|Hypertrophy of tip of nose UMLS:C4280499|UMLS:C4280500|UMLS:C4280498|UMLS:C1856118 human_phenotype owl:Class HP:0010822 biolink:NamedThing Scintillating scotoma A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights. hp0009lx5z peter 2010-07-10T03:35:29Z SNOMEDCT_US:2228002|MSH:D012607|UMLS:C0235068 human_phenotype owl:Class HP:0004625 biolink:NamedThing Biconvex vertebral bodies Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. hp0009lx5z Note that biconvex vertebral bodies can be a normal finding in newborns. UMLS:C1866675 human_phenotype owl:Class HP:0006316 biolink:NamedThing Irregularly spaced teeth Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. hp0009lx5z Variability of dental spacing|Irregular dental spacing|Variability of spacing between teeth|Irregularly spaced teeth HP:0009081 UMLS:C1845878 human_phenotype owl:Class HP:0001033 biolink:NamedThing Facial flushing after alcohol intake hp0009lx5z Facial flushing after alcohol intake UMLS:C4025808 human_phenotype owl:Class HP:0031284 biolink:NamedThing Flushing Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. hp0009lx5z 2017-08-13 20:14:18+00:00 Flushing can occur on the face, neck and, less frequently, the upper trunk and abdomen. peter owl:Class HP:0002416 biolink:NamedThing Subependymal cysts Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. hp0009lx5z In the vast majority of cases, a simple persistence of the germinal matrix is proposed to explain their presence in asymptomatic preterm neonates. Viral infections, mainly with CMV and rubella, are commonly found when the pseudocysts are associated with other abnormalities of the central nervous system. The pseudocysts are then often multilocular. UMLS:C1833431 owl:Class HP:0033071 biolink:NamedThing Impaired task monitoring Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal. hp0009lx5z peter owl:Class HP:0032466 biolink:NamedThing Aplasia of the olfactory bulb Lack of formation (congenital absence) of the olfactory bulb. hp0009lx5z Aplastic olfactory bulb|Olfactory bulb aplasia 2019-04-04 09:33:50+00:00 Olfactory bulb aplasia causes anosmia, a complete loss of the sense of smell. peter owl:Class HP:0011080 biolink:NamedThing Abnormal premolar morphology An abnormality of morphology of premolar tooth. hp0009lx5z Abnormality of bicuspid morphology|Abnormality of shape of bicuspid|Abnormality of shape of premolar|Abnormality of premolar morphology peter 2011-03-11T10:33:42Z UMLS:C4023545 owl:Class HP:0011076 biolink:NamedThing Abnormality of premolar An abnormality of premolar tooth. hp0009lx5z Abnormality of bicuspid|Abnormality of premolar peter 2011-03-11T09:56:17Z UMLS:C4023548 human_phenotype owl:Class HP:3000005 biolink:NamedThing Abnormality of masseter muscle An abnormality of a masseter muscle. hp0009lx5z vasilevs 2015-02-26T03:43:00Z UMLS:C4073214 human_phenotype owl:Class HP:0025289 biolink:NamedThing Cervical lymphadenopathy Enlarged lymph nodes in the neck. hp0009lx5z Swollen lymph nodes in the neck 2016-12-18 15:40:35+00:00 HPO:probinson owl:Class HP:0006773 biolink:NamedThing Cutaneous angiolipomas hp0009lx5z NCIT:C3733|UMLS:C4024980 human_phenotype owl:Class HP:0001012 biolink:NamedThing Multiple lipomas The presence of multiple lipomas (a type of benign tissue made of fatty tissue). hp0009lx5z Lipomatosis|Multiple fatty lumps|Lipomas A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children. UMLS:C0023798|UMLS:C0745730|SNOMEDCT_US:404062002|MSH:D008067|NCIT:C3192|SNOMEDCT_US:93163002|SNOMEDCT_US:46720004 human_phenotype owl:Class HP:0011560 biolink:NamedThing Mitral atresia A congenital defect with failure to open of the mitral valve orifice. hp0009lx5z Mitral valve atresia peter 2012-04-07T12:04:11Z EPCC:06.02.01|Fyler:0310|Fyler:310|SNOMEDCT_US:23063005|ICD-10:Q23.2|UMLS:C0344760 human_phenotype owl:Class HP:0032118 biolink:NamedThing Retinitis Inflammation of the retina of the eye. hp0009lx5z 2018-11-17 14:59:57+00:00 Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. peter owl:Class HP:0033371 biolink:NamedThing Bronchocentric granulomatosis Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen. hp0009lx5z 2020-12-16 12:59:57+00:00 This feature is shown in Figure 2 of PMID:26744680. peter owl:Class HP:0030253 biolink:NamedThing Defective T cell proliferation A reduced ability of a T cell population to expand by cell division following T cell activation. hp0009lx5z UMLS:C4022557 owl:Class HP:0031379 biolink:NamedThing Abnormal T cell proliferation Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population. hp0009lx5z 2017-09-02 15:56:23+00:00 peter owl:Class HP:0007082 biolink:NamedThing Dilated third ventricle An increase in size of the third ventricle. hp0009lx5z The thrid ventricle is midline between the two lateral ventricles, and it communicates between them and the fourth ventricle. UMLS:C4024941 owl:Class HP:0032981 biolink:NamedThing Absent bronchoalveolar dimeric surfactant-protein B Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid. hp0009lx5z Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-B may result of surfactant metabolism dysfunction. peter owl:Class HP:0032975 biolink:NamedThing Abnormal bronchoalveolar fluid protein level Any deviation from the normal concentration of protein in the bronchoalveolar fluid. hp0009lx5z Abnormal biochemical composition of broncho-alveolar fluid|Abnormal level of proteins in the broncho-alveolar fluid peter owl:Class HP:0000512 biolink:NamedThing Abnormal electroretinogram Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. hp0009lx5z ERG abnormal|Abnormal ERG|Abnormal electroretinography The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. HP:0003285 SNOMEDCT_US:274524001|UMLS:C0476397 human_phenotype owl:Class HP:0030453 biolink:NamedThing Abnormal visual electrophysiology hp0009lx5z UMLS:C4072945 owl:Class HP:0032090 biolink:NamedThing Intralamellar aortic medial fibrosis A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units. hp0009lx5z 2018-10-14 15:08:14+00:00 peter owl:Class HP:0005759 biolink:NamedThing Small flat posterior fossa An abnormally small and flat configuration of the posterior cranial fossa. hp0009lx5z Small and flat posterior skull bones|Small and flat posterior fossa of skull UMLS:C4025141 owl:Class HP:0040011 biolink:NamedThing Flat posterior fossa hp0009lx5z HPO:skoehler UMLS:C4022495 owl:Class HP:0033271 biolink:NamedThing Glomerular capillary microaneurysm Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. hp0009lx5z 2020-11-28 16:09:35+00:00 peter owl:Class HP:4000047 biolink:NamedThing Compression fracture A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance. hp0009lx5z Wedge fracture 2021-05-02 20:51:49+00:00 robinp owl:Class HP:0410135 biolink:NamedThing Cold urticaria Urticaria may be caused by cold temperatures. hp0009lx5z 2018-03-02 19:45:27+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0004008 biolink:NamedThing Sloping radial epiphyses hp0009lx5z UMLS:C4025449 human_phenotype owl:Class HP:0009415 biolink:NamedThing Irregular epiphyses of the 3rd finger Irregular radiographic opacity of the epiphyses of the 3rd finger. hp0009lx5z Irregular end part of middle finger bone doelkens 2009-01-14T02:01:59Z UMLS:C4024378 human_phenotype owl:Class HP:0100348 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 2nd toe The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. hp0009lx5z Camptodactyly of the second toe|Camptodactyly of the 2nd toe UMLS:C4021019 human_phenotype owl:Class HP:0100329 biolink:NamedThing Tarsometatarsal synostosis hp0009lx5z Fused bones of the midfoot doelkens 2010-10-08T03:53:06Z UMLS:C4022144 human_phenotype owl:Class HP:0009514 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 2nd finger An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the middle long bone of the index finger doelkens 2009-01-16T01:12:17Z UMLS:C4024318 human_phenotype owl:Class HP:0011289 biolink:NamedThing EEG with temporal sharp slow waves EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. hp0009lx5z peter 2012-02-11T12:30:25Z UMLS:C4023427 human_phenotype owl:Class HP:0033717 biolink:NamedThing EEG with temporal epileptiform discharges Focal epileptiform EEG discharges recorded in the temporal region. hp0009lx5z 2021-04-07 12:56:30+00:00 peter owl:Class HP:0030615 biolink:NamedThing Foveal photoreceptor outer segment loss on macular OCT hp0009lx5z UMLS:C4073085 owl:Class HP:0010971 biolink:NamedThing Absence of Lutheran antigen on erythrocytes Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. hp0009lx5z peter 2011-02-06T12:40:21Z UMLS:C4023619 human_phenotype owl:Class HP:0010970 biolink:NamedThing Blood group antigen abnormality An abnormality of an erythrocyte cell surface molecule. hp0009lx5z During development, the human immune system recognizes antigens of the body as 'self' and does not generate antibodies against them. peter 2011-02-06T12:37:33Z UMLS:C4023620 human_phenotype owl:Class HP:0009510 biolink:NamedThing Small epiphysis of the distal phalanx of the 2nd finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. hp0009lx5z Small end part of the outermost bone of the index finger doelkens 2009-01-16T01:11:04Z UMLS:C4024321 human_phenotype owl:Class HP:0002542 biolink:NamedThing Olivopontocerebellar atrophy Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus. hp0009lx5z Olivopontocerebellar degeneration HP:0005683 SNOMEDCT_US:67761004|MSH:D009849|UMLS:C0028968 human_phenotype owl:Class HP:0001642 biolink:NamedThing Pulmonic stenosis A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). hp0009lx5z Pulmonic valve stenosis|Pulmonary stenosis|Pulmonary valve stenosis|Narrowing of pulmonic valve Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. MSH:D011666|UMLS:C1956257|SNOMEDCT_US:56786000|Fyler:1611 owl:Class HP:0031654 biolink:NamedThing Abnormal pulmonary valve physiology Any functional anomaly of the pumonary valve. hp0009lx5z 2017-12-17 15:24:28+00:00 peter owl:Class HP:0001674 biolink:NamedThing Complete atrioventricular canal defect A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. hp0009lx5z Atrioventricular canal|Common atrioventricular canal|Complete atrioventricular septal defect|Complete common AV canal The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve. HP:0001689|HP:0006697 Fyler:1120 owl:Class HP:0004250 biolink:NamedThing Proximally placed lunate hp0009lx5z UMLS:C4025391 human_phenotype owl:Class HP:0031752 biolink:NamedThing Lateral rectus muscle overaction Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. hp0009lx5z 2018-01-21 14:24:41+00:00 peter owl:Class HP:0030485 biolink:NamedThing Abnormal amplitude of pattern electroretinogram hp0009lx5z UMLS:C4072975 owl:Class HP:0011126 biolink:NamedThing Nephroptosis A significant descent of the kidney as the patient moves from the supine to the erect position. hp0009lx5z Renal ptosis|Floating kidney Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery. peter 2011-06-16T07:34:25Z UMLS:C1384594 human_phenotype owl:Class HP:0100100 biolink:NamedThing Absent epiphysis of the distal phalanx of the 2nd toe hp0009lx5z Absent end part of the outermost bone of the 2nd toe doelkens 2010-06-24T10:04:20Z UMLS:C4022321 human_phenotype owl:Class HP:0031267 biolink:NamedThing Abnormal CD69 upregulation upon TCR activation Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus. hp0009lx5z 2017-08-12 19:45:57+00:00 This feature can be measured by flow cytometry. peter owl:Class HP:0009763 biolink:NamedThing Limb pain Chronic pain in the limbs with no clear focal etiology. hp0009lx5z Limb pain|Pain in extremities peter 2009-02-01T03:55:10Z SNOMEDCT_US:90834002|UMLS:C0030196 human_phenotype owl:Class HP:0011296 biolink:NamedThing EEG with temporal sharp waves EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec. hp0009lx5z peter 2012-02-11T12:33:47Z UMLS:C2206519 human_phenotype owl:Class HP:0500050 biolink:NamedThing Retinopathy of prematurity stage 1 The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina. hp0009lx5z ROP stage 1 2018-02-19 18:27:23+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0011423 biolink:NamedThing Hyperchloremia An abnormally increased chloride concentration in the blood. hp0009lx5z peter 2012-03-16T06:09:40Z UMLS:C0085679|SNOMEDCT_US:74450001 human_phenotype owl:Class HP:0011422 biolink:NamedThing Abnormal blood chloride concentration An abnormality of chloride homeostasis or concentration in the body. hp0009lx5z Abnormal blood Cl- concentration|Abnormality of chloride homeostasis|Abnormal blood Cl concentration peter 2012-03-16T06:09:15Z UMLS:C4023367 human_phenotype owl:Class HP:0045059 biolink:NamedThing Hyperkeratotic papule A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). hp0009lx5z UMLS:C2047516 owl:Class HP:0032686 biolink:NamedThing Focal aware cognitive seizure with memory impairment A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0010529 biolink:NamedThing Echolalia The tendency to repeat vocalizations made by another person. hp0009lx5z Echoing another person's speech|Repeated speech|Echologia|Echophrasia peter 2009-09-20T08:17:27Z SNOMEDCT_US:64712007|MSH:D004454|UMLS:C4280380|UMLS:C0013528 owl:Class HP:0008605 biolink:NamedThing Unilateral external ear deformity hp0009lx5z Deformed external ear on one side UMLS:C1834043 human_phenotype owl:Class HP:0011530 biolink:NamedThing Retinal hole A small break in the retina. hp0009lx5z Retinal holes A retinal hole can be asymptomatic or can lead to the sudden appearance of many floaters or flashes, blurry, or wavy vision, or of a a dark shadow or curtain in the peripheral visual field. peter 2012-04-06T09:39:01Z SNOMEDCT_US:302888003|SNOMEDCT_US:95690009|UMLS:C0035321|SNOMEDCT_US:232003005|SNOMEDCT_US:40024006|MSH:D012167 human_phenotype owl:Class HP:0007872 biolink:NamedThing Choroidal hemangioma The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas. hp0009lx5z Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic. NCIT:C3086|UMLS:C0346390|SNOMEDCT_US:255022003 human_phenotype owl:Class HP:0012024 biolink:NamedThing Hypergalactosemia Elevated concentration of galactose in the blood. hp0009lx5z Galactosemia Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400). peter 2012-07-26T10:35:58Z UMLS:C0016952|SNOMEDCT_US:190749000|MSH:D005693|UMLS:C4023071|SNOMEDCT_US:190745006 human_phenotype owl:Class HP:0005363 biolink:NamedThing Humoral immunodeficiency A general term referring to a defect in immunity resulting from impaired antibody production. hp0009lx5z If possible it is preferable to use a precise description of the observed manifestations leading to the inference of humoral immunodeficiency. UMLS:C4025206 human_phenotype owl:Class HP:0030709 biolink:NamedThing Myelocystocele Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst. hp0009lx5z Localized dilatation of the central canal of the spinal cord which produces a fluid-filled sac or diverticulum which then protrudes through the cord and the defective dorsal dura between the posterior parts of the vertebra. UMLS:C0025312|MSH:D008591|SNOMEDCT_US:203994003|SNOMEDCT_US:414667000 owl:Class HP:0005678 biolink:NamedThing Anterior atlanto-occipital dislocation hp0009lx5z UMLS:C4025157 human_phenotype owl:Class HP:0003414 biolink:NamedThing Atlantoaxial dislocation Partial dislocation of the atlantoaxial joint. hp0009lx5z Atlantoaxial subluxation|Atlanto-axial subluxation UMLS:C0263905|SNOMEDCT_US:45179004|SNOMEDCT_US:263042007 human_phenotype owl:Class HP:0005944 biolink:NamedThing Bilateral lung agenesis Bilateral lack of development of the lungs. hp0009lx5z Bilateral pulmonary agenesis|Absent lungs HP:0006550 UMLS:C4021610|Fyler:4206 human_phenotype owl:Class HP:0012012 biolink:NamedThing EEG with parietal focal spike waves EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. hp0009lx5z hecht 2012-07-20T12:00:43Z UMLS:C4023079 human_phenotype owl:Class HP:0032750 biolink:NamedThing Focal impaired awareness emotional seizure with laughing Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0007754 biolink:NamedThing Macular dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. hp0009lx5z HP:0007919|HP:0007638|HP:0007999|HP:0007798|HP:0007914 UMLS:C0730292 human_phenotype owl:Class HP:0005478 biolink:NamedThing Prominent frontal sinuses hp0009lx5z Large frontal sinus|Increased size of frontal sinus|Hyperplasia of frontal sinus|Increased volume of frontal sinus|Hypertrophy of frontal sinus UMLS:C4280480|UMLS:C4280265|UMLS:C1969404|UMLS:C4280481|UMLS:C4280479 human_phenotype owl:Class HP:0031527 biolink:NamedThing Intraretinal fluid Edema/fluid accumulating within the retinal layers. hp0009lx5z Intra-retinal fluid 2017-09-24 00:47:48+00:00 peter owl:Class HP:0033025 biolink:NamedThing Chronic absent circulating total IgG A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured. hp0009lx5z Chronic (near) absent total IgG in blood peter owl:Class HP:0000059 biolink:NamedThing Hypoplastic labia majora Undergrowth of the outer labia. hp0009lx5z Hypoplasia of labia majora|Small labia majora|Underdeveloped vaginal lips SNOMEDCT_US:289469003|UMLS:C0566899 owl:Class HP:0100920 biolink:NamedThing Sclerosis of 4th finger phalanx An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in ring finger bone|Sclerosis of the phalanges of the 4th finger UMLS:C4020935 human_phenotype owl:Class HP:0004407 biolink:NamedThing Bony paranasal bossing hp0009lx5z peter 2008-03-18T09:20:00Z UMLS:C1857499 human_phenotype owl:Class HP:0012812 biolink:NamedThing Fullness of paranasal tissue Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. hp0009lx5z Hypertrophy of paranasal tissue|Thick paranasal tissue|Laterally built up nose|Hyperplasia of paranasal tissue|Fullness of tissue around the nose|Thick tissue around the nose|Paranasal fullness This feature is distinct from Wide nasal ridge and Wide nasal bridge. hecht 2014-05-25T10:40:06Z UMLS:C4021065|UMLS:C4280308|UMLS:C4280309 human_phenotype owl:Class HP:0011021 biolink:NamedThing Abnormality of circulating enzyme level hp0009lx5z peter 2011-02-28T08:46:34Z UMLS:C4023591 human_phenotype owl:Class HP:0012821 biolink:NamedThing Unilateral vocal cord paresis Decreased strength of the vocal fold on one side. hp0009lx5z hecht 2014-05-28T09:25:11Z MSH:D014826|UMLS:C0751577 human_phenotype owl:Class HP:0033440 biolink:NamedThing Elevated circulating octenoylcarnitine concentration Increased concentration of octenoylcarnitine in the blood circulation. hp0009lx5z Elevated circulating O-octenoylcarnitine concentration|Elevated plasma octenoylcarnitine, C8:1 2021-01-09 18:42:59+00:00 peter owl:Class HP:0012108 biolink:NamedThing Open angle glaucoma A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, hp0009lx5z Primary open angle glaucoma Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. peter 2012-09-10T05:17:24Z SNOMEDCT_US:77075001|UMLS:C0339573|MSH:C562750 human_phenotype owl:Class HP:0500269 biolink:NamedThing Abnormal proportion of gamma-delta T cells Abnormal proportion of gamma-delta T cells relative to the total number of T cells. hp0009lx5z Abnormal proportion of gamma-delta T-lymphocytes|Abnormal proprotion of gamma-delta T lymphocytes|Abnormal proportion of gammadelta T cells 2020-05-19 14:55:58+00:00 owl:Class HP:0006274 biolink:NamedThing Reduced pancreatic beta cells Reduced number of beta cells in the pancreatic islets of Langerhans. hp0009lx5z The beta cells are responsible for producing insulin and amylin. UMLS:C1856904 human_phenotype owl:Class HP:0030603 biolink:NamedThing Abnormal optical coherence tomography hp0009lx5z UMLS:C3665728 owl:Class HP:0030362 biolink:NamedThing Reduced muscle carnitine level A reduction in the level of carnitine in muscle tissue. hp0009lx5z Carnitine deficiency may be observed in a systemic form or be limited to skeletal muscle tissue. Carnitine levels can be measured by assays of muscle tissue (biopsy). Alternatively, 1H-NMR spectroscopy can be used for qualitative measurement of muscle carnitine levels. UMLS:C4072902 owl:Class HP:0010953 biolink:NamedThing Noncommunicating hydrocephalus A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed. hp0009lx5z The most common form of noncommunicating hydrocephalus is obstructive and is caused by intraventricular or extraventricular mass-occupying lesions that disrupt the ventricular anatomy. peter 2011-01-17T02:22:26Z SNOMEDCT_US:230746009|MSH:D006849|UMLS:C0549423|SNOMEDCT_US:82346000 owl:Class HP:0003970 biolink:NamedThing Undermodelled forearm bones hp0009lx5z UMLS:C4025470 human_phenotype owl:Class HP:0005165 biolink:NamedThing Shortened PR interval Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. hp0009lx5z Shortened PR interval on EKG|Electrocardiographic short PR interval|Short P-R interval SNOMEDCT_US:49578007|UMLS:C0520878 human_phenotype owl:Class HP:0002589 biolink:NamedThing Gastrointestinal atresia hp0009lx5z GI atresia UMLS:C4025697 human_phenotype owl:Class HP:0031937 biolink:NamedThing Tachylalia Extreme rapidity of speech. hp0009lx5z Tachylogia 2018-07-04 21:09:19+00:00 peter owl:Class HP:0030351 biolink:NamedThing Urticarial plaque A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter. hp0009lx5z UMLS:C4072895 owl:Class HP:0040298 biolink:NamedThing Hyperplasia of the endometrium hp0009lx5z Hyperplastic endometrium owl:Class HP:0002149 biolink:NamedThing Hyperuricemia An abnormally high level of uric acid in the blood. hp0009lx5z High blood uric acid level|Hyperuricaemia UMLS:C0740394|SNOMEDCT_US:35885006|MSH:D033461 human_phenotype owl:Class HP:0032849 biolink:NamedThing Aphasic status epilepticus Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit. hp0009lx5z peter owl:Class HP:0031266 biolink:NamedThing Podocyte foot process effacement An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. hp0009lx5z Loss of primary podocyte processes 2017-08-12 19:38:16+00:00 Two stages of podocyte foot process effacement (FPE) may clearly be distinguished. Within the first stage, foot processes undergo tremendous changes in shape, losing their regular interdigitating pattern and retracting into short irregularly shaped cell projections. Slit diaphragms are lost or displaced from their usual position at the base and replaced by occludens-type junctions between the deformed, broadened foot processes. These changes are necessarily associated with considerable movements of these processes in relation to the glomerular basemenet membrane (GBM). The second phase, the completed stage of FPE, includes retraction of the foot processes into the primary podocyte cell processes, leading to broad flattened disc-like projections that cover the GBM, finally merging with the cell bodies. At this point, the cell bodies have lost their usual position floating above the GBM within the filtrate in Bowman space. Instead they broadly adhere directly to the GBM. The subpodocyte space beneath the podocyte cell body has largely disappeared in this stage. peter owl:Class HP:0033258 biolink:NamedThing Sudden unexpected death in epilepsy Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death. hp0009lx5z SUDEP 2020-11-28 14:34:03+00:00 peter owl:Class HP:0001699 biolink:NamedThing Sudden death Rapid and unexpected death. hp0009lx5z UMLS:C0011071|SNOMEDCT_US:26636000|MSH:D003645 owl:Class HP:0007535 biolink:NamedThing Hypopigmented streaks hp0009lx5z UMLS:C1866244 human_phenotype owl:Class HP:0200107 biolink:NamedThing Shortened inner dynein arms hp0009lx5z sebastiankohler 2013-06-05T12:14:49Z UMLS:C4021890 human_phenotype owl:Class HP:0009806 biolink:NamedThing Nephrogenic diabetes insipidus A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP). hp0009lx5z peter 2009-02-16T11:23:28Z UMLS:C0162283|SNOMEDCT_US:111395007|MSH:D018500 human_phenotype owl:Class HP:0004846 biolink:NamedThing Prolonged bleeding after surgery Bleeding that persists longer than the normal time following a surgical procedure. hp0009lx5z Excessive bleeding during surgery|Protracted bleeding after surgery|Prolonged bleeding after surgery UMLS:C4021646 human_phenotype owl:Class HP:0004639 biolink:NamedThing Elevated amniotic fluid alpha-fetoprotein An elevation of alpha-feto protein measured in the amniotic fluid. hp0009lx5z Elevated amniotic fluid alpha fetal protein|Elevated amniotic fluid alpha-fetoglobulin|Elevated amniotic fluid alpha-1-fetoprotein|Elevated amniotic fluid alpha foetal protein This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele. HP:0005985 UMLS:C1839860 human_phenotype owl:Class HP:0100930 biolink:NamedThing Sclerosis of hallux phalanx An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in big toe bone|Sclerosis of the phalanges of the hallux UMLS:C4020926 human_phenotype owl:Class HP:0010610 biolink:NamedThing Palmar pits hp0009lx5z sandra1 2009-10-28T01:23:05Z SNOMEDCT_US:247449001|UMLS:C0423776 human_phenotype owl:Class HP:0012290 biolink:NamedThing Mouth neoplasm A tumor (abnormal growth of tissue) of the mouth. hp0009lx5z Mouth tumour|Mouth tumor|Neoplasm of the mouth|Lesion of mouth peter 2013-04-11T05:48:12Z UMLS:C0026640|SNOMEDCT_US:126797001|SNOMEDCT_US:235075007|NCIT:C3262|MSH:D009062 human_phenotype owl:Class HP:0001351 biolink:NamedThing Jerk-locked premyoclonus spikes Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. hp0009lx5z UMLS:C3552825 human_phenotype owl:Class HP:0031077 biolink:NamedThing Abnormal response to corticotropin releasing hormone stimulation test An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals. hp0009lx5z Abnormal response to CRH stimulation test 2017-05-28 23:25:56+00:00 peter owl:Class HP:0030331 biolink:NamedThing Impaired stimulus-induced skin wrinkling A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth). hp0009lx5z UMLS:C4022505 owl:Class HP:0025414 biolink:NamedThing Pendulous urethral stricture A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa. hp0009lx5z 2017-04-23 11:17:06+00:00 HPO:probinson owl:Class HP:0040110 biolink:NamedThing Morphological abnormality of the saccule hp0009lx5z HPO:skoehler UMLS:C4022433 owl:Class HP:0030950 biolink:NamedThing Pulmonary venous hypertension An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension. hp0009lx5z 2017-01-13 21:56:41+00:00 Common causes of pulmonary venous hypertension are obstruction to left ventricular (LV) inflow, LV systolic dysfunction, severe mitral regurgitation, and acute pulmonary and systemic volume overload. As the pulmonary venous pressure nears 22 mm Hg, interstitial pulmonmary edema may develop. As it reaches 25 mm Hg, alveolar edema may ensue. robinp owl:Class HP:0000744 biolink:NamedThing Low frustration tolerance The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors. hp0009lx5z UMLS:C0548883 human_phenotype owl:Class HP:0000982 biolink:NamedThing Palmoplantar keratoderma Abnormal thickening of the skin of the palms of the hands and the soles of the feet. hp0009lx5z Palmar and plantar keratoderma|Thickening of palms and soles UMLS:C0022596|MSH:D007645|SNOMEDCT_US:706885006 owl:Class HP:0006772 biolink:NamedThing Renal angiomyolipoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. hp0009lx5z Kidney angiomyolipoma|Angiomyolipoma Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. HP:0100873 NCIT:C3734|SNOMEDCT_US:254921004|UMLS:C0241961 human_phenotype owl:Class HP:0010086 biolink:NamedThing Broad proximal phalanx of the hallux Increased width of proximal phalanx of big toe. hp0009lx5z Broad proximal phalanx of the big toe|Broad innermost bone of the big toe doelkens 2009-05-29T12:17:16Z UMLS:C4021338 human_phenotype owl:Class HP:0011331 biolink:NamedThing Hemifacial atrophy Unilateral atrophy of facial tissues, including muscles, bones and skin. hp0009lx5z Atrophy of one side of the face|Atrophy of half of face|Facial hemiatrophy peter 2012-02-25T05:04:56Z SNOMEDCT_US:718224004|SNOMEDCT_US:95834000|UMLS:C0015458|MSH:D005150 human_phenotype owl:Class HP:0011083 biolink:NamedThing Conical maxillary incisor An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both. hp0009lx5z Conoid maxillary incisor|Upper front shark tooth|Cone shaped maxillary incisor|Cone shaped upper front tooth|Pointed upper front tooth|Peg shaped upper front tooth|Pointed maxillary incisor peter 2011-03-11T11:36:11Z UMLS:C4023542 human_phenotype owl:Class HP:0030543 biolink:NamedThing Unaided visual acuity 0.8 LogMAR hp0009lx5z UMLS:C4073017 owl:Class HP:0031573 biolink:NamedThing Tessier number 2 facial cleft As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. hp0009lx5z 2017-10-14 12:36:28+00:00 peter owl:Class HP:0007352 biolink:NamedThing Cerebellar calcifications hp0009lx5z UMLS:C1851431 human_phenotype owl:Class HP:0007156 biolink:NamedThing Asymmetric limb muscle stiffness Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern. hp0009lx5z UMLS:C4024931 human_phenotype owl:Class HP:0011206 biolink:NamedThing EEG with generalized slow activity grade 1 Slowing at frequencies between 7.5 and 8.5 Hz. hp0009lx5z EEG with generalised slow activity grade 1 hecht 2011-11-19T11:31:28Z UMLS:C4023468 human_phenotype owl:Class HP:0007301 biolink:NamedThing Oromotor apraxia hp0009lx5z UMLS:C4021845 human_phenotype owl:Class HP:0012524 biolink:NamedThing Abnormal platelet shape A deviation from the normal discoid platelet shape. hp0009lx5z peter 2013-12-15T08:55:03Z UMLS:C4022866 human_phenotype owl:Class HP:0007133 biolink:NamedThing Progressive peripheral neuropathy hp0009lx5z Progressive polyneuropathy HP:0007329 UMLS:C1859178 owl:Class HP:0001335 biolink:NamedThing Bimanual synkinesia Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. hp0009lx5z Mirror movements|Mirror hand movements|Hand mirror movements Mirror movement refers to simultaneous contralateral, involuntary, identical movements that accompany voluntary movements. Erlenmeyer first used this term in 1879. The definition of mirror movement as involuntary, synkinetic mirror reversals of an intended movement of opposite side was coined by Cohen et al. in 1991. These movements are soft, neurologic signs, seen uncommonly in clinical practice. UMLS:C0454455|SNOMEDCT_US:229247004 human_phenotype owl:Class HP:0011467 biolink:NamedThing Absent gallbladder A developmental defect in which the gallbladder fails to form. hp0009lx5z Absent gallbladder|Aplasia of the gallbladder|Agenesis of the gallbladder peter 2012-03-25T07:41:14Z UMLS:C0266251|MSH:C562564|SNOMEDCT_US:86507001 human_phenotype owl:Class HP:0031065 biolink:NamedThing Abnormal ovarian morphology hp0009lx5z 2017-05-28 22:32:58+00:00 peter owl:Class HP:0009880 biolink:NamedThing Broad distal phalanges of all fingers Abnormally wide (broad) distal phalanx of finger of all fingers. hp0009lx5z Broad outermost hand bones doelkens 2009-04-24T04:18:59Z HP:0005816 UMLS:C4024174 human_phenotype owl:Class HP:0003965 biolink:NamedThing Pseudarthrosis of the forearm bones hp0009lx5z UMLS:C4025474 human_phenotype owl:Class HP:0005147 biolink:NamedThing Bidirectional ventricular ectopy hp0009lx5z UMLS:C1969410 human_phenotype owl:Class HP:0004790 biolink:NamedThing Hypoplasia of the small intestine Underdevelopment of the small intestine. hp0009lx5z Underdeveloped small intestine UMLS:C4025291 human_phenotype owl:Class HP:0007064 biolink:NamedThing Progressive language deterioration Progressive loss of previously present language abilities. hp0009lx5z UMLS:C1843793 owl:Class HP:0007962 biolink:NamedThing Speckled corneal dystrophy hp0009lx5z UMLS:C4021857 human_phenotype owl:Class HP:0100049 biolink:NamedThing Irregular epiphyses of the 2nd toe hp0009lx5z Irregular end part of the 2nd toe bone doelkens 2010-06-24T09:58:18Z UMLS:C4022372 human_phenotype owl:Class HP:0100393 biolink:NamedThing Short middle phalanx of the 4th toe Developmental hypoplasia of the middle phalanx of fourth toe. hp0009lx5z Hypoplastic/small middle phalanx of the 4th toe|Short middle bone of 4th toe|Short middle phalanx of the fourth toe UMLS:C4021004 human_phenotype owl:Class HP:0045047 biolink:NamedThing HbS hemoglobin Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. hp0009lx5z HbS haemoglobin SNOMEDCT_US:50095005|UMLS:C0019043|MSH:D006451 owl:Class HP:0031980 biolink:NamedThing Abnormal urine carboxylic acid level Any deviation from the normal concentration of a carboxylic acid in the urine. hp0009lx5z 2018-07-08 13:01:16+00:00 Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). peter owl:Class HP:0001056 biolink:NamedThing Milia Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. hp0009lx5z Milk spot|Millium cyst Milia are a normal finding in newborn babies (40-50%), often occurring around the nose. SNOMEDCT_US:254683001|SNOMEDCT_US:254679001|UMLS:C0345996|SNOMEDCT_US:37719003 human_phenotype owl:Class HP:0004271 biolink:NamedThing Cortical thickening of hand bones hp0009lx5z UMLS:C4025379 human_phenotype owl:Class HP:0100039 biolink:NamedThing Thickened cortex of bones An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones. hp0009lx5z doelkens 2010-06-24T09:39:01Z UMLS:C4022382 human_phenotype owl:Class HP:0000139 biolink:NamedThing Uterine prolapse The presence of prolapse of the uterus. hp0009lx5z Sagging uterus The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position. HP:0100824 SNOMEDCT_US:24976005|MSH:D014596|UMLS:C0042140 human_phenotype owl:Class HP:0032439 biolink:NamedThing Airborn particle hypersensitivity An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen. hp0009lx5z 2019-03-03 16:15:03+00:00 Particles can be defined as any small bits of material or droplets either inorganic or organic, viable or nonviable, that can become airborne. They can range from small molecules less than 0.001 micrometer to pollens and spores ranging between 2 and 50 micrometers and very large visible dust particles in the range of 1000 micrometers. Particles can also assume many shapes including long, fibrous varieties with a length greater than three times diameter, spheres, oddly shaped or irregularly shaped material, oblong, crescent-shaped varieties, or other peculiar shapes, such as certain pollen grains and mold spores. peter owl:Class HP:0010853 biolink:NamedThing EEG with periodic lateralized epileptiform discharges Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds). hp0009lx5z EEG: periodic lateralized epileptiform discharges The epileptiform morphology of the discharges is not invariable, as PLEDS are often closer to slow waves than to sharp waves in morphology. PLEDs are often are caused by acute destructive focal lesions. PLEDs are often a transitory phenomenon, disappearing in a matter of weeks, even if the causal lesion persists, and often transforming into a less specific but more persistent focal slow appearance. peter 2010-07-11T08:25:02Z UMLS:C4021215 human_phenotype owl:Class HP:0004826 biolink:NamedThing Folate-unresponsive megaloblastic anemia A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. hp0009lx5z Folate-unresponsive megaloblastic anaemia UMLS:C4025287 human_phenotype owl:Class HP:0002878 biolink:NamedThing Respiratory failure A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. hp0009lx5z Respiratory failure Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg). HP:0004877 SNOMEDCT_US:409622000|UMLS:C1145670|MSH:D012131 human_phenotype owl:Class HP:0031257 biolink:NamedThing Arteriovenous malformation of the maxilla An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla. hp0009lx5z 2017-08-12 15:53:52+00:00 This abnormality may be accompanied by gingival swelling adjacent to the affected maxilla as well as by loosening of nearby teeth. Radiographic examination mayreveal a lytic lesion of the maxilla. peter owl:Class HP:0005679 biolink:NamedThing Dupuytren contracture An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints. hp0009lx5z A Dupuytren contracture usually affects the fourth and fifth digits (the ring and small fingers). Affected persons are not able to extend the 4th and 5th fingers. SNOMEDCT_US:274142002|SNOMEDCT_US:203047009|SNOMEDCT_US:203045001|MSH:D004387|UMLS:C0013312|SNOMEDCT_US:410813000 human_phenotype owl:Class HP:0009136 biolink:NamedThing Duplication involving bones of the feet hp0009lx5z Duplication involving bones of the feet peter 2008-04-17T02:45:00Z UMLS:C4024578 human_phenotype owl:Class HP:4000026 biolink:NamedThing Anti-transglutaminase 6 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6. hp0009lx5z 2021-05-02 14:46:46+00:00 robinp owl:Class HP:0500270 biolink:NamedThing Increased proportion of gamma-delta T cells Increased proportion of gamma-delta T cells relative to the total number of T cells. hp0009lx5z Increased proportion of gammadelta T cells|Increased proportion of gamma-delta T-cells|Increased proportion of gamma-delta T lymphocytes|Increased proportion of gamma-delta T-lymphocytes|Elevated proportion of gamma-delta T cells 2020-05-19 15:10:25+00:00 owl:Class HP:3000028 biolink:NamedThing Abnormality of depressor anguli oris muscle An abnormality of a depressor anguli oris muscle. hp0009lx5z vasilevs 2015-08-07T00:16:20Z UMLS:C4073237 human_phenotype owl:Class HP:0011963 biolink:NamedThing Pretesticular azoospermia Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels. hp0009lx5z peter 2012-07-16T12:28:55Z UMLS:C4023105 human_phenotype owl:Class HP:0000027 biolink:NamedThing Azoospermia Absence of any measurable level of sperm in his semen. hp0009lx5z Absent sperm in semen UMLS:C0004509|SNOMEDCT_US:425558002|SNOMEDCT_US:48188009|MSH:D053713 human_phenotype owl:Class HP:0004348 biolink:NamedThing Abnormality of bone mineral density This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. hp0009lx5z Abnormality of bone mineralisation and ossification peter 2008-03-11T08:10:00Z UMLS:C4021657 human_phenotype owl:Class HP:0004285 biolink:NamedThing Overmodelled hand bones hp0009lx5z UMLS:C4025371 human_phenotype owl:Class HP:0033637 biolink:NamedThing Anti-endomysial antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2). hp0009lx5z Anti-transglutaminase 2 antibody positivity 2021-02-03 13:26:13+00:00 peter owl:Class HP:0009005 biolink:NamedThing Weakness of the intrinsic hand muscles hp0009lx5z Intrinsic hand muscle weakness UMLS:C1834536 owl:Class HP:0100470 biolink:NamedThing Symphalangism affecting the middle phalanx of the 3rd toe hp0009lx5z Fused middle bones of 3rd toe UMLS:C4022057 human_phenotype owl:Class HP:0030292 biolink:NamedThing Tibial metaphyseal irregularity Irregularity of the normally smooth surface of a metaphysis of a tibia. hp0009lx5z UMLS:C4022533 owl:Class HP:0005528 biolink:NamedThing Bone marrow hypocellularity A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. hp0009lx5z Bone marrow hypoplasia|Bone marrow failure|Hypoplastic bone marrow HP:0005529|HP:0100549 UMLS:C1855710 human_phenotype owl:Class HP:0005780 biolink:NamedThing Absent fourth finger distal interphalangeal crease Absence of the distal interphalangeal flexion creases of the fourth finger. hp0009lx5z No fourth finger distal interphalangeal crease UMLS:C4021621 human_phenotype owl:Class HP:0001032 biolink:NamedThing Absent distal interphalangeal creases Absence of the distal interphalangeal flexion creases of the fingers. hp0009lx5z Aplasia of the distal interphalangeal creases|Absence of skin creases over distal interphalangeal joints|Distal finger flexion creases absent UMLS:C1861349 human_phenotype owl:Class HP:0010296 biolink:NamedThing Ankyloglossia Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. hp0009lx5z Tongue tie|Tongue tied The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth (ankyloglossia inferiorum) to a lingual frenulum that is short or anchored toward the tip of the tongue (sometimes called tongue tie). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue. peter 2009-07-12T11:44:22Z MSH:D000072676|SNOMEDCT_US:67787004|UMLS:C0152415 human_phenotype owl:Class HP:0025525 biolink:NamedThing Scaling skin on fingertip Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips. hp0009lx5z 2017-05-17 23:53:56+00:00 HPO:probinson owl:Class HP:0005295 biolink:NamedThing Pseudocoarctation of the aorta Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum. hp0009lx5z Note that the ligamentum arteriosum, which develops from the ductus arteriosus, is attached to the superior surface of the pulmonary artery and the inferior surface of the aortic arch. SNOMEDCT_US:70602002|UMLS:C0345088 human_phenotype owl:Class HP:0001178 biolink:NamedThing Ulnar claw An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. hp0009lx5z An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand. UMLS:C4025799 human_phenotype owl:Class HP:0011711 biolink:NamedThing Left anterior fascicular block Conduction block in the anterior division of the left bundle branch of the bundle of His. hp0009lx5z Left anterior hemiblock peter 2012-04-11T08:02:03Z UMLS:C0264912|SNOMEDCT_US:37760005 human_phenotype owl:Class HP:0004021 biolink:NamedThing Lytic defects of radial metaphysis hp0009lx5z UMLS:C4025439 human_phenotype owl:Class HP:0100646 biolink:NamedThing Thyroiditis Inflammation of the thyroid gland. hp0009lx5z Thyroid gland inflammation doelkens 2010-12-29T06:08:32Z UMLS:C0040147|MSH:D013966|SNOMEDCT_US:82119001 human_phenotype owl:Class HP:0030553 biolink:NamedThing Visual acuity no light perception hp0009lx5z SNOMEDCT_US:63063006|UMLS:C0442774 owl:Class HP:0005209 biolink:NamedThing Intrahepatic bile duct cysts The presence of cyst of the intrahepatic bile duct. hp0009lx5z UMLS:C0400991|SNOMEDCT_US:235925007 human_phenotype owl:Class HP:0031858 biolink:NamedThing Esophageal furrows Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus). hp0009lx5z 2018-05-05 18:45:29+00:00 Esophageal furrows may occur in inflammatory disorders of the esophagus such as eosinophilic esophagitis. peter owl:Class HP:0003810 biolink:NamedThing Late-onset distal muscle weakness hp0009lx5z HP:0003728 UMLS:C4025565 human_phenotype owl:Class HP:0040276 biolink:NamedThing Adenocarcinoma of the colon hp0009lx5z ORCID:0000-0002-5316-1399 NCIT:C2852|UMLS:C0338106 owl:Class HP:0009894 biolink:NamedThing Thickened ears Increased thickness of the external ear. hp0009lx5z Thickened ears peter 2009-04-30T10:09:17Z UMLS:C4024168 human_phenotype owl:Class HP:0100455 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 3rd toe hp0009lx5z UMLS:C4022072 human_phenotype owl:Class HP:0410179 biolink:NamedThing Decreased glucose-6-phosphate dehydrogenase level in blood A decrease in the level of glucose-6-phosphate dehydrogenase in the blood. hp0009lx5z Decreased G6PD level in blood 2018-05-21 17:55:41+00:00 owl:Class HP:0030845 biolink:NamedThing Heliotrope rash of eyelid Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema. hp0009lx5z Purple eyelids, which are described as heliotrope, as they resemble the heliotrope flower, e.g., Heliotropium peruvianum, which has small purple petals. Heliotrope rash is one of the characteristic skin manifestations of juvenile dermatomyositis. It is a reddish-purple rash on the upper eyelids that is usually bilateral. UMLS:C4280745 owl:Class HP:0030087 biolink:NamedThing Abnormal circulating testosterone concentration An anomalous concentration of testosterone in the blood. hp0009lx5z Abnormal testosterone level|Abnormal serum testosterone level HPO:skoehler SNOMEDCT_US:166458009|UMLS:C4022654|UMLS:C0580454 owl:Class HP:0033035 biolink:NamedThing Abnormal Schwann cell morphology Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function. hp0009lx5z Abnormal neurilemmal cell morphology|Abnormal neurilemmocyte morphology peter owl:Class HP:0004045 biolink:NamedThing Sloping ulnar metaphysis A sloped configuration of the metaphysis (shaft) of the ulna. hp0009lx5z UMLS:C4025419 human_phenotype owl:Class HP:0030265 biolink:NamedThing Wide penis Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. hp0009lx5z Wide penis UMLS:C4022551 owl:Class HP:0025477 biolink:NamedThing Periarticular calcification Calcified deposits in soft tissue structures outside a joint. hp0009lx5z 2017-05-14 13:23:02+00:00 HPO:probinson owl:Class HP:0000149 biolink:NamedThing Ovarian gonadoblastoma The presence of a gonadoblastoma of the ovary. hp0009lx5z Gonadoblastoma, female Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development. SNOMEDCT_US:716594002|NCIT:C3754|UMLS:C1518716 human_phenotype owl:Class HP:0008993 biolink:NamedThing Increased intraabdominal fat An abnormal increase in the amount of intraabdominal fat tissue. hp0009lx5z UMLS:C1835390 human_phenotype owl:Class HP:0001477 biolink:NamedThing Compensatory chin elevation A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. hp0009lx5z Compensatory head tilt/chin elevation UMLS:C1846911 human_phenotype owl:Class HP:0011593 biolink:NamedThing Left aortic arch with retroesophageal diverticulum of Kommerell A patent ductus arteriosus or ductal ligament completes the ring. hp0009lx5z Kommerell diverticulum peter 2012-04-08T02:02:42Z SNOMEDCT_US:74561007|UMLS:C0265885 human_phenotype owl:Class HP:0011069 biolink:NamedThing Supernumerary tooth The presence of one or more teeth additional to the normal number. hp0009lx5z Supplemental dentition|More teeth than normal|Supernumerary teeth|Hyperdontia|Supplemental teeth|Supernumary teeth|Increased number of teeth|Extra teeth|Increased tooth count|Supernumary dentition|Tooth, supernumerary Age-related physiological sequential eruption should be taken into account during evaluation. The type and the location of the additional tooth/teeth should be added to the description. Supernumerary teeth are uncommon (in 0.21% of deciduous dentitions and in 0.9% of permanent dentitions), and often abnormal positioning of a normal number of teeth is wrongly classified as supernumerary teeth. Supernumerary teeth are most frequent in the upper maxilla, and typically, a single additional tooth is present. We discourage the use of distodens, distomolars (an extra fourth molar posterior to the third molar), paramolars (supernumerary tooth in the molar region) but rather to mention the presence of the supernumerary tooth mesial to or distal to a tooth from the normal series. Diagnosing a supernumerary tooth may require radiographic examination. A supernumerary tooth present between the maxillary central incisors is called mesiodens. peter 2011-03-10T02:52:19Z HP:0000672 SNOMEDCT_US:367534004|SNOMEDCT_US:266414008|MSH:D014096|SNOMEDCT_US:8666004|UMLS:C0040457 owl:Class HP:0004557 biolink:NamedThing Anterior vertebral fusion hp0009lx5z UMLS:C1969393 human_phenotype owl:Class HP:0025201 biolink:NamedThing Abnormal circulating apolipoprotein concentration A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation. hp0009lx5z Abnormal apolipoprotein level 2016-12-10 12:53:01+00:00 HPO:probinson owl:Class HP:0030838 biolink:NamedThing Hip pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. hp0009lx5z Hip pain UMLS:C0019559|SNOMEDCT_US:49218002 owl:Class HP:0030529 biolink:NamedThing Ring scotoma hp0009lx5z SNOMEDCT_US:129625005|MSH:D012607|UMLS:C0438434 owl:Class HP:0100676 biolink:NamedThing Vaginal lymphocele hp0009lx5z "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. doelkens 2010-12-30T01:36:39Z UMLS:C4021999 human_phenotype owl:Class HP:0410244 biolink:NamedThing Abnormal circulating IgD level An abnormal deviation from normal levels of IgD immunoglobulin in blood. hp0009lx5z Abnormal IgD level in blood 2018-10-12 20:42:13+00:00 owl:Class HP:0001254 biolink:NamedThing Lethargy A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. hp0009lx5z Lethargy UMLS:C0023380|MSH:D053609|SNOMEDCT_US:214264003 human_phenotype owl:Class HP:0020148 biolink:NamedThing Increased circulating mead acid level An abnormally elevated concentration od mead acid in the blood circulation. hp0009lx5z Elevated serum Mead acid as a proportion of total fatty acids is an indirect marker of a deficiency of essential fatty acids. robinp 2019-07-05 19:33:18+00:00 owl:Class HP:0031468 biolink:NamedThing Separation insecurity Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy. hp0009lx5z 2017-09-17 16:39:37+00:00 peter owl:Class HP:0001771 biolink:NamedThing Achilles tendon contracture A contracture of the Achilles tendon. hp0009lx5z Tight achilles tendon|Contractures of the Achilles tendon|Shortening of the achilles tendon|Achilles tendon contractures HP:0004711|HP:0005031|HP:0006430 SNOMEDCT_US:203076007|UMLS:C0410264 human_phenotype owl:Class HP:0040196 biolink:NamedThing Mild microcephaly Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD). hp0009lx5z UMLS:C1836806 owl:Class HP:0000684 biolink:NamedThing Delayed eruption of teeth Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. hp0009lx5z Late tooth eruption|Delayed tooth eruption|Delayed dental eruption|Delayed eruption|Eruption, delayed|Delayed eruption of teeth|Late eruption of teeth|Delayed teeth eruption|Delayed dental development This term should not be used in a patient with Gingival overgrowth. Eruption is defined by the appearance of a tooth that has pierced the oral mucosa. There are established norms for the timing of eruption in both deciduous and permanent teeth. Eruption delay may affect either the deciduous teeth, permanent teeth, or both. The absence of shedding of deciduous teeth may be seen in association with delayed permanent tooth eruption or agenesis of successional permanent teeth. The diagnosis eruption delayed requires clinical and radiographic examinations. HP:0006328|HP:0000686|HP:0006314|HP:0006294 SNOMEDCT_US:5639000|UMLS:C0239174 owl:Class HP:0031868 biolink:NamedThing Optic ataxia Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected. hp0009lx5z 2018-05-06 13:12:07+00:00 Optic ataxia is related to a cortical neurologic deficit that is a result of a lesion to the superior parietal lobule (SPL) and areas around the intraparietal sulcus (IPS). The phenomenon is thought not to be an apraxia (a disorder in executing learned behaviors), but rather a lack of coordination between visual input and motor outputs, and thus the term ataxia, Greek for Lack of Order. peter owl:Class HP:0031537 biolink:NamedThing Anomalous origin of the left circumflex artery from the right coronary artery An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA). hp0009lx5z 2017-09-24 01:19:28+00:00 peter owl:Class HP:0025505 biolink:NamedThing Anomalous origin of the circumflex artery from the right sinus of Valsalva The circumflex coronary artery originates from the right aortic sinus of Valsalva. hp0009lx5z 2017-05-14 23:16:37+00:00 HPO:probinson owl:Class HP:0032555 biolink:NamedThing Bounding pulse Increased amplitude (strength) of the pulse. hp0009lx5z 2019-06-14 10:50:57+00:00 peter owl:Class HP:0006108 biolink:NamedThing Tapered metacarpals Metacarpal that becomes thinner toward the distal end. hp0009lx5z Tapered long bones of hand UMLS:C4025091 human_phenotype owl:Class HP:0001946 biolink:NamedThing Ketosis Presence of elevated levels of ketone bodies in the body. hp0009lx5z High levels of ketone bodies|Hyperketosis Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. The predominant ketones being acetoacetate, acetone, and beta-hydroxybutyrate. HP:0003543 SNOMEDCT_US:2538008|UMLS:C0235430|UMLS:C0022638|MSH:D007662|SNOMEDCT_US:213281004 human_phenotype owl:Class HP:0008835 biolink:NamedThing Multicentric femoral head ossification There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers. hp0009lx5z Additionally, the ossification center of the capital femoral epiphysis appears at the end of the first year after birth. This is not what this term refers to. UMLS:C1846447 human_phenotype owl:Class HP:0007646 biolink:NamedThing Absent lower eyelashes Lack of eyelashes on the lower lid. hp0009lx5z Aplasia of lower eyelashes|Failure of development of lower eyelashes|Absent lower eyelashes|Agenesis of lower eyelashes|Atrichia of lower eyelashes UMLS:C4024824 human_phenotype owl:Class HP:0032635 biolink:NamedThing Tubulointerstitial microganismal infiltration Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. hp0009lx5z peter owl:Class HP:0001969 biolink:NamedThing Abnormal tubulointerstitial morphology An abnormality that involves the tubules and interstitial tissue of the kidney. hp0009lx5z Tubulointerstitial nephropathy|Tubulointerstitial abnormality HP:0008654 UMLS:C4025732|SNOMEDCT_US:428255004|SNOMEDCT_US:28689008|UMLS:C0041349|MSH:D009395 human_phenotype owl:Class HP:0006770 biolink:NamedThing Clear cell renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. hp0009lx5z Nonpapillary renal cell carcinoma MSH:D002292|SNOMEDCT_US:41607009|UMLS:C0279702|SNOMEDCT_US:188251003|SNOMEDCT_US:254915003 human_phenotype owl:Class HP:0002869 biolink:NamedThing Flared iliac wing Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. hp0009lx5z Flared iliac wings See Figure 4A of PMID:28744080. UMLS:C1865841 owl:Class HP:0005215 biolink:NamedThing Frequent Giardia lamblia infestation Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection. hp0009lx5z UMLS:C4025235 human_phenotype owl:Class HP:0000712 biolink:NamedThing Emotional lability Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. hp0009lx5z Mood lability|Mood changes|Mood alterations|Emotional instability HP:0001575|HP:0008766 SNOMEDCT_US:18963009|UMLS:C0085633 owl:Class HP:0010998 biolink:NamedThing Increased susceptibility to spontaneous sister chromatid exchange An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells. hp0009lx5z Increased susceptibility to spontaneous sister chromatid exchange is characteristic for Bloom syndrome. peter 2011-02-10T06:14:16Z UMLS:C4023604 human_phenotype owl:Class HP:0003220 biolink:NamedThing Abnormality of chromosome stability A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. hp0009lx5z HP:0008307|HP:0002915 UMLS:C0376628|MSH:D019457|UMLS:C1859424 human_phenotype owl:Class HP:0410209 biolink:NamedThing Folate deficiency in CSF A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid. hp0009lx5z Folate deficiency in cerebrospinal fluid 2018-09-12 00:12:26+00:00 Cerebral folate deficiency is usually measured as low levels of folate in the CSF, in the presence of normal folate metabolism outside the nervous system. owl:Class HP:0004836 biolink:NamedThing Acute promyelocytic leukemia A type of acute myeloid leukemia in which abnormal promyelocytes predominate. hp0009lx5z Acute promyelocytic leukaemia SNOMEDCT_US:110004001|SNOMEDCT_US:28950004|UMLS:C0023487|MSH:D015473 human_phenotype owl:Class HP:0100579 biolink:NamedThing Mucosal telangiectasiae Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. hp0009lx5z doelkens 2010-12-27T01:04:18Z UMLS:C4022020 human_phenotype owl:Class HP:3000058 biolink:NamedThing Abnormality of inferior rectus extraocular muscle An abnormality of an inferior rectus extraocular muscle. hp0009lx5z vasilevs 2015-08-07T03:18:44Z UMLS:C4073266 human_phenotype owl:Class HP:0003651 biolink:NamedThing Foam cells The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. hp0009lx5z Foamy macrophages|Lipid-laden histiocytes|Foamy histiocytes|Presence of foam cells Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy. HP:0003650 SNOMEDCT_US:16980002|MSH:D005487|UMLS:C0016390 human_phenotype owl:Class HP:0100125 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 2nd toe hp0009lx5z Enlarged end part of the innermost bone of the 2nd toe doelkens 2010-06-24T10:06:29Z UMLS:C4022296 human_phenotype owl:Class HP:0009522 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 2nd finger hp0009lx5z Speckled calcifications in end part of the middle bone of the index finger doelkens 2009-01-16T01:12:17Z UMLS:C4024311 human_phenotype owl:Class HP:0007107 biolink:NamedThing Segmental peripheral demyelination A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. hp0009lx5z UMLS:C4024938 human_phenotype owl:Class HP:0025362 biolink:NamedThing Renal medullary pyramid hypoplasia Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. hp0009lx5z Hypoplasia of the medullary pyramids 2017-02-20 13:16:42+00:00 HPO:probinson owl:Class HP:0025361 biolink:NamedThing Abnormality of medullary pyramid morphology A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. hp0009lx5z 2017-02-20 13:15:23+00:00 HPO:probinson owl:Class HP:0000037 biolink:NamedThing Male pseudohermaphroditism Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. hp0009lx5z UMLS:C0238395|MSH:D058490|SNOMEDCT_US:111332007 human_phenotype owl:Class HP:0040042 biolink:NamedThing Aplasia of the eccrine sweat glands hp0009lx5z Absent eccrine sweat glands HPO:skoehler UMLS:C4022475 owl:Class HP:0008277 biolink:NamedThing Abnormal blood zinc concentration An abnormality of zinc ion homeostasis. hp0009lx5z Abnormality of zinc homeostasis|Abnormal zinc metabolism UMLS:C4024711|UMLS:C4020802 human_phenotype owl:Class HP:0033724 biolink:NamedThing Central venous sinus thrombosis An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses. hp0009lx5z 2021-04-07 16:35:17+00:00 peter owl:Class HP:0031689 biolink:NamedThing Megakaryocyte dysplasia The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. hp0009lx5z Dysmegakaryopoiesis 2017-12-17 22:09:51+00:00 peter owl:Class HP:0020121 biolink:NamedThing Conception by assisted reproductive technology A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. hp0009lx5z Assisted reproductive technology is used primarily for infertility treatments to achieve pregnancy. robinp 2019-07-02 16:46:09+00:00 owl:Class HP:0007465 biolink:NamedThing Honeycomb palmoplantar hyperkeratosis Abnormal thickening of the skin on the palms and soles with an honeycomb pattern. hp0009lx5z UMLS:C1866032 owl:Class HP:0009531 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 2nd finger A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-01-16T01:12:34Z UMLS:C4024305 human_phenotype owl:Class HP:0004417 biolink:NamedThing Intermittent claudication Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. hp0009lx5z Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis. peter 2008-03-18T09:29:00Z MSH:D007383|UMLS:C0021775|SNOMEDCT_US:63491006 human_phenotype owl:Class HP:0001450 biolink:NamedThing Y-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. hp0009lx5z Y-linked MSH:D050173|UMLS:C0814045 owl:Class HP:0100650 biolink:NamedThing Vaginal neoplasm A tumor (abnormal growth of tissue) of the vagina. hp0009lx5z Vaginal neoplasia|Vaginal tumour|Vaginal tumor doelkens 2010-12-29T06:34:41Z MSH:D014625|UMLS:C0042258|UMLS:C0750081|SNOMEDCT_US:126921000|NCIT:C3262 human_phenotype owl:Class HP:0410304 biolink:NamedThing Complete or near-complete absence of specific antibody response to meningococcus vaccine The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:04:12+00:00 owl:Class HP:0001081 biolink:NamedThing Cholelithiasis Hard, pebble-like deposits that form within the gallbladder. hp0009lx5z Gallstones Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones. UMLS:C0008350|MSH:D002769|SNOMEDCT_US:266474003 human_phenotype owl:Class HP:0001773 biolink:NamedThing Short foot A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). hp0009lx5z Small feet|Short foot|Short feet|Hypoplastic feet HP:0001778|HP:0001764|HP:0008135|HP:0001766 UMLS:C1848673 human_phenotype owl:Class HP:0100162 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 3rd toe hp0009lx5z Irregular end part of the innermost bone of the 3rd toe doelkens 2010-06-24T10:24:45Z UMLS:C4022259 human_phenotype owl:Class HP:0006834 biolink:NamedThing Developmental stagnation at onset of seizures A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy. hp0009lx5z UMLS:C1836829 human_phenotype owl:Class HP:0030390 biolink:NamedThing Reduced circulating leukotriene C4 concentration An abnormally decreased concentration of leukotriene C4 in the blood circulation. hp0009lx5z Cysteinyl leukotrienes including LTC4 are potent lipid mediators derived from arachidonic acid in the 5 lipoxygenase pathway. UMLS:C4072927 owl:Class HP:0008768 biolink:NamedThing Inappropriate sexual behavior hp0009lx5z Inappropriate sexual behaviour|Inappropriate sexual behavior UMLS:C0474420|SNOMEDCT_US:248099006 human_phenotype owl:Class HP:0030433 biolink:NamedThing Osteoid osteoma A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone. hp0009lx5z SNOMEDCT_US:71666005|MSH:D010017|UMLS:C0029441|SNOMEDCT_US:302859004 owl:Class HP:0100246 biolink:NamedThing Osteoma Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant. hp0009lx5z doelkens 2010-07-08T11:38:30Z SNOMEDCT_US:83612000|NCIT:C3296|MSH:D010016|UMLS:C0029440|SNOMEDCT_US:302858007 human_phenotype owl:Class HP:0008232 biolink:NamedThing Elevated circulating follicle stimulating hormone level An elevated concentration of follicle-stimulating hormone in the blood. hp0009lx5z Elevated follicle-stimulating hormone|Elevated FSH level|Increased circulating follicle stimulating hormone level|Elevated plasma follicle stimulating hormone|Elevated follicle stimulating hormone HP:0008324 UMLS:C4021550 human_phenotype owl:Class HP:0000837 biolink:NamedThing Increased circulating gonadotropin level Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. hp0009lx5z Increased circulating gonadotropin level|Elevated gonadotropins|Elevated serum gonadotropins|Gonadotropin excess HP:0030340 UMLS:C1862265 human_phenotype owl:Class HP:0032709 biolink:NamedThing Focal aware cognitive seizure with dysgraphia/agraphia A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0002491 biolink:NamedThing Spasticity of facial muscles Spasticity of one or more muscles innervated by the facial nerve. hp0009lx5z Spasticity of the facial muscles|Increased stiffness of facial muscles|Increased tone of facial muscles Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort. HP:0000313 UMLS:C4280571|UMLS:C4280570|UMLS:C1853404 human_phenotype owl:Class HP:0004464 biolink:NamedThing Postauricular pit Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. hp0009lx5z Postauricular earpits|Posterior auricular pit|Pit behind the ear|Posterior auricular sinus|Postauricular fistula SNOMEDCT_US:43887004|UMLS:C0395905 human_phenotype owl:Class HP:0006579 biolink:NamedThing Prolonged neonatal jaundice Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. hp0009lx5z Neonatal jaundice|Jaundice, neonatal|Prolonged yellowing of skin in newborn HP:0000986 SNOMEDCT_US:387712008|MSH:D007567|UMLS:C1859236|UMLS:C0022353 human_phenotype owl:Class HP:0002504 biolink:NamedThing Calcification of the small brain vessels Deposition of calcium salts within small blood vessels of the brain. hp0009lx5z This finding can be made upon neuropathologic examination. UMLS:C4025703 human_phenotype owl:Class HP:0005872 biolink:NamedThing Brachytelomesophalangy Disproportionately short middle and distal phalanges compared to the hand/foot. hp0009lx5z Progressive brachydactyly of middle and distal phalanges|Short middle and distal phalanges of digits ii through v HP:0005777|HP:0006093 UMLS:C1847408 human_phenotype owl:Class HP:0001757 biolink:NamedThing High-frequency sensorineural hearing impairment A form of sensorineural hearing impairment that affects primarily the higher frequencies. hp0009lx5z High frequency sensorineural hearing impairment|High-tone sensorineural hearing impairment|High-tone sensorineural deafness UMLS:C4021775 human_phenotype owl:Class HP:0025358 biolink:NamedThing Uveal ectropion Presence of iris pigment epithelium on the anterior surface of the iris. hp0009lx5z Ectropion uveae 2017-02-17 12:10:49+00:00 HPO:probinson owl:Class HP:0025405 biolink:NamedThing Visual fixation instability A deficit in the ability to fixate eye movements in order to stabilize images on the retina hp0009lx5z Instability of ocular fixation 2017-04-22 14:31:07+00:00 HPO:probinson owl:Class HP:0025404 biolink:NamedThing Abnormal visual fixation Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. hp0009lx5z 2017-04-22 14:29:49+00:00 HPO:probinson owl:Class HP:0002131 biolink:NamedThing Episodic ataxia Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. hp0009lx5z Intermittent cerebellar ataxia|Paroxysmal ataxia HP:0007214|HP:0006862|HP:0007152 UMLS:C1720189|MSH:C580065|SNOMEDCT_US:421455009 human_phenotype owl:Class HP:0001129 biolink:NamedThing Large central visual field defect hp0009lx5z Large central loss of field of vision UMLS:C4025800 human_phenotype owl:Class HP:0012559 biolink:NamedThing Increased T3/T4 ratio A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. hp0009lx5z peter 2014-01-04T01:52:59Z UMLS:C4022846 human_phenotype owl:Class HP:0500020 biolink:NamedThing Abnormal cardiac biomarker test Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes. hp0009lx5z 2017-05-12 16:54:55+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0007035 biolink:NamedThing Anterior encephalocele hp0009lx5z UMLS:C4024948 human_phenotype owl:Class HP:0011556 biolink:NamedThing Double inlet right ventricle The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic. hp0009lx5z peter 2012-04-07T11:57:14Z EPCC:01.04.03|SNOMEDCT_US:253282005|UMLS:C0344621|ICD-10:Q20.4 human_phenotype owl:Class HP:0012841 biolink:NamedThing Retinal vascular tortuosity The presence of an increased number of twists and turns of the retinal blood vessels. hp0009lx5z Tortuous retinal vessels peter 2014-06-06T07:53:56Z UMLS:C1860475 human_phenotype owl:Class HP:0031585 biolink:NamedThing Tessier number 13 facial cleft There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above. hp0009lx5z 2017-10-14 12:54:25+00:00 peter owl:Class HP:0033827 biolink:NamedThing Anterior mediastinal mass A type of inferior mediastinal mass that is located in front of the pericardium. hp0009lx5z 2021-05-09 12:29:02+00:00 peter owl:Class HP:0033826 biolink:NamedThing Inferior mediastinal mass A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4). hp0009lx5z 2021-05-09 12:28:07+00:00 peter owl:Class HP:0032972 biolink:NamedThing Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases. hp0009lx5z peter owl:Class HP:0011390 biolink:NamedThing Morphological abnormality of the inner ear A structural anomaly of the internal part of the ear. hp0009lx5z The inner ear contains the cochlea and the semicircular canals. hecht 2012-03-09T04:59:24Z UMLS:C4023381 human_phenotype owl:Class HP:0033301 biolink:NamedThing Elevated circulating 1-methylhistidine concentration An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine. hp0009lx5z 2020-11-28 22:00:20+00:00 peter owl:Class HP:0041152 biolink:NamedThing Fractured sternoclavicular joint A partial or complete breakage of the sternoclavicular joint. hp0009lx5z bone sternoclavicular joint owl:Class HP:0007430 biolink:NamedThing Generalized edema Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. hp0009lx5z Generalised tissue oedema|Generalized tissue edema|Generalised oedema HP:0007575 SNOMEDCT_US:271808008|UMLS:C1850534 human_phenotype owl:Class HP:0030245 biolink:NamedThing Intrapartum fever The occurence of maternal fever during labor. hp0009lx5z Maternal fever during labour|Maternal fever during labor Intrapartum fever may indicate chorioamnionitis. Intrapartum fever is an important predictor of neonatal morbidity and infection-related mortality. UMLS:C3829514 owl:Class HP:0001900 biolink:NamedThing Increased hemoglobin hp0009lx5z Increased Hb|Increased haemoglobin SNOMEDCT_US:131141003|UMLS:C0549448 human_phenotype owl:Class HP:0001901 biolink:NamedThing Polycythemia Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. hp0009lx5z Abnormally shaped erythrocytes|Polyglobulia|Increased red blood cells|Erythrocytosis HP:0001893 MSH:D011086|UMLS:C0032461|SNOMEDCT_US:109992005|UMLS:C1527405|SNOMEDCT_US:127062003 human_phenotype owl:Class HP:0200159 biolink:NamedThing Agenesis of primary mandibular lateral incisor hp0009lx5z Agenesis of deciduous mandibular lateral incisor|Failure of development of primary mandibular lateral incisor|Absence of lower front baby tooth|Missing deciduous mandibular lateral incisor|Missing primary mandibular lateral incisor|Absence of primary mandibular lateral incisor|Absence of deciduous mandibular lateral incisor|Failure of development of deciduous mandibular lateral incisor UMLS:C4280281|UMLS:C4021878|UMLS:C4280280 owl:Class HP:0011780 biolink:NamedThing Thyroid hemiagenesis Absence of a lobe of the thyroid gland related to a failure of its embryologic development. hp0009lx5z peter 2012-04-22T06:04:32Z SNOMEDCT_US:715734006|UMLS:C4023190 human_phenotype owl:Class HP:0007867 biolink:NamedThing Restrictive partial external ophthalmoplegia Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. hp0009lx5z UMLS:C4024781 human_phenotype owl:Class HP:0007936 biolink:NamedThing Restrictive external ophthalmoplegia Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. hp0009lx5z Restrictive external ophthalmoplegia, bilateral|Restrictive ophthalmoplegia HP:0008025|HP:0007846|HP:0007959 UMLS:C1865918|UMLS:C4020806 human_phenotype owl:Class HP:0033745 biolink:NamedThing Dysplasia of the superior cerebellar vermis A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis. hp0009lx5z 2021-04-16 21:56:06+00:00 Dysplasia of the superior cerebellar vermis is generally seen in Joubert syndrome. peter owl:Class HP:0009787 biolink:NamedThing Aplasia/Hypoplasia of the quadriceps Absence or underdevelopment of the quadriceps muscle. hp0009lx5z Absent/small quadriceps|Absent/underdeveloped quadriceps peter 2009-02-03T05:17:40Z UMLS:C4024206 human_phenotype owl:Class HP:0006443 biolink:NamedThing Patellar aplasia Absence of the patella. hp0009lx5z Absent patella|Absent kneecap|Aplastic patellae|Absent patellas|Absent patellae HP:0006475|HP:0003046 UMLS:C1868578 human_phenotype owl:Class HP:0410232 biolink:NamedThing Increased anti-fungi IgE antibody level Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota. hp0009lx5z Increased anti-fungus IgE antibody level|Increased anti-fungal IgE antibody level 2018-10-03 21:57:01+00:00 owl:Class HP:0012111 biolink:NamedThing Abnormality of circulating glucocorticoid level An abnormality of the concentration of a glucocorticoid in the blood. hp0009lx5z hecht 2012-09-16T04:22:26Z UMLS:C4023038 human_phenotype owl:Class HP:0003658 biolink:NamedThing Hypomethioninemia A decreased concentration of methionine in the blood. hp0009lx5z Decreased plasma methionine|Decreased serum methionine Normal methionine blood levels are around 30 micromole per liter. UMLS:C1848555 human_phenotype owl:Class HP:0033844 biolink:NamedThing Tachyphrenia The sensation that thoughts are moving too quickly. hp0009lx5z Racing thoughts 2021-05-30 21:10:50+00:00 peter owl:Class HP:0001230 biolink:NamedThing Broad metacarpals Abnormally broad metacarpal bones. hp0009lx5z Wide long bones of hand|Wide metacarpals HP:0006024|HP:0006065 UMLS:C1842229 human_phenotype owl:Class HP:0000888 biolink:NamedThing Horizontal ribs A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. hp0009lx5z Horizontal ribs UMLS:C3806510 human_phenotype owl:Class HP:0030865 biolink:NamedThing Large elbow Abnormal increased size of the elbow joint. hp0009lx5z Prominent elbow UMLS:C4280737 owl:Class HP:0033690 biolink:NamedThing Retrograde memory impairment Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia. hp0009lx5z Retrograde amnesia 2021-03-07 22:53:43+00:00 peter owl:Class HP:0033688 biolink:NamedThing Long term memory impairment A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that). hp0009lx5z Long term memory loss 2021-03-07 22:48:25+00:00 peter owl:Class HP:0007006 biolink:NamedThing Dorsal column degeneration hp0009lx5z UMLS:C4024953 human_phenotype owl:Class HP:0003040 biolink:NamedThing Arthropathy hp0009lx5z Disease of the joints MSH:D007592|SNOMEDCT_US:399269003|UMLS:C0022408 human_phenotype owl:Class HP:0003559 biolink:NamedThing Muscle hyperirritability hp0009lx5z UMLS:C1853701 human_phenotype owl:Class HP:3000070 biolink:NamedThing Abnormality of levator anguli oris An abnormality of a levator anguli oris. hp0009lx5z vasilevs 2015-08-07T03:38:48Z UMLS:C4073277 human_phenotype owl:Class HP:0032283 biolink:NamedThing Disseminated nontuberculous mycobacterial infection An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease. hp0009lx5z 2019-01-27 23:26:04+00:00 peter owl:Class HP:0031700 biolink:NamedThing Invasive parasitic infection A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host. hp0009lx5z 2017-12-17 22:50:23+00:00 peter owl:Class HP:0031873 biolink:NamedThing Early chronotype A tendency towards rising very early in the morning and going to bed early in the evening. hp0009lx5z Early sleep onset 2018-05-06 13:57:20+00:00 peter owl:Class HP:0008501 biolink:NamedThing Median cleft lip and palate Cleft lip or palate affecting the midline region of the palate. hp0009lx5z Medial cleft lip and palate|Midline cleft lip/palate|Wide midline cleft lip/palate|Central cleft lip and palate HP:0009089 UMLS:C2750604 human_phenotype owl:Class HP:0009099 biolink:NamedThing Median cleft palate Cleft palate of the midline of the palate. hp0009lx5z Midline cleft palate|Central cleft palate UMLS:C1850968 human_phenotype owl:Class HP:0025232 biolink:NamedThing Bursitis Inflammation of a synovial bursa. hp0009lx5z 2016-12-14 11:33:51+00:00 HPO:probinson owl:Class HP:0000053 biolink:NamedThing Macroorchidism The presence of abnormally large testes. hp0009lx5z Large testicles|Large testis UMLS:C1263023 human_phenotype owl:Class HP:0430009 biolink:NamedThing Hypoplasia of eyelid Developmental hypoplasia of the eyelid. hp0009lx5z Short eyelid|Underdevelopment of eyelid|Decreased size of eyelid|Small eyelid UMLS:C0344499|SNOMEDCT_US:204203001|UMLS:C4280274 owl:Class HP:0011441 biolink:NamedThing Abnormality of the medulla oblongata An abnormality of the medulla oblongata, the lower half of the brainstem. hp0009lx5z Abnormality of the myencephalon The medulla oblongata, which is often referred to simply as the medulla, comprises the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures. peter 2012-03-18T01:51:24Z UMLS:C4021148 human_phenotype owl:Class HP:0031491 biolink:NamedThing Continuous spike and waves during slow sleep Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. hp0009lx5z CSWS 2017-09-18 00:34:28+00:00 peter owl:Class HP:0025066 biolink:NamedThing Decreased mean corpuscular volume A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). hp0009lx5z Reduced erythrocyte volume|Decreased MCV|Microcytosis 2016-09-26 10:10:48+00:00 HPO:probinson owl:Class HP:0025065 biolink:NamedThing Abnormal mean corpuscular volume A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters. hp0009lx5z Abnormal MCV|Abnormal erythrocyte volume 2016-09-26 10:08:33+00:00 HPO:probinson owl:Class HP:0030150 biolink:NamedThing Plasmacytosis An abnormally increased number of plasma cells in tissues, exudates, or blood hp0009lx5z A plasma cells (also known as plasma B cell, plasmocyte, or effector B cell), is a short-lived antibody-producing cell derived from a B lymphocyte. UMLS:C0549295 owl:Class HP:0033464 biolink:NamedThing Elevated circulating 3-hydroxypalmitoleylcarnitine concentration Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation. hp0009lx5z Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH|Elevated circulating 3-OH-palmitoleylcarnitine concentration 2021-01-09 22:32:19+00:00 peter owl:Class HP:0020218 biolink:NamedThing Focal aware atonic seizure A type of focal atonic seizure during which awareness is fully retained throughout. hp0009lx5z robinp 2020-02-24 14:12:12+00:00 owl:Class HP:0032718 biolink:NamedThing Focal motor seizure with dystonia A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures. hp0009lx5z The abnormal movements of dystonia resulting from co-contraction of agonist and antagonist muscles differentiates these from tonic seizures, see focal tonic seizure. peter owl:Class HP:0032593 biolink:NamedThing Myoglobin casts A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. hp0009lx5z peter owl:Class HP:0010809 biolink:NamedThing Broad uvula Increased width of the uvula (subjective finding). hp0009lx5z Wide uvula This finding often accompanies a Submucous cleft palate, but this should be coded separately. A longitudinal groove indicating incomplete fusion of the two parts of the uvula may be present with a broadened uvula and has sometimes been called abortive cleft uvula. peter 2010-07-05T10:22:01Z UMLS:C3693299 owl:Class HP:0008915 biolink:NamedThing Childhood-onset truncal obesity Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. hp0009lx5z Truncal obesity apparent in childhood HP:0008874 UMLS:C1859846 human_phenotype owl:Class HP:0001956 biolink:NamedThing Truncal obesity Obesity located preferentially in the trunk of the body as opposed to the extremities. hp0009lx5z Centripetal obesity|Truncal obesity HP:0008885 UMLS:C0311277|MSH:D056128|SNOMEDCT_US:248311001 human_phenotype owl:Class HP:0100760 biolink:NamedThing Clubbing of toes Terminal broadening of the toes (distal phalanges of the toes). hp0009lx5z Clubbed toes doelkens 2011-06-07T10:25:26Z MSH:D003025|UMLS:C3887489|SNOMEDCT_US:53148007|SNOMEDCT_US:397932003|SNOMEDCT_US:249808002|UMLS:C0009081 human_phenotype owl:Class HP:0001217 biolink:NamedThing Clubbing Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. hp0009lx5z Clubbing of fingers and toes|Digital clubbing Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers). HP:0005874|HP:0003036 SNOMEDCT_US:367004|UMLS:C0149651 human_phenotype owl:Class HP:0005518 biolink:NamedThing Increased mean corpuscular volume Larger than normal size of erythrocytes. hp0009lx5z Erythrocyte macrocytosis|Increased MCV Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits. HP:0005536 UMLS:C0855791 human_phenotype owl:Class HP:0100841 biolink:NamedThing Microgastria A developmental anomaly wtih a small tubular or saccular midline stomach. hp0009lx5z Patients with microgastria usually have poor growth, inadequate food consumption, or a complication of the small gastric cavity and gastroesophageal reflux, including frequent vomiting or pneumonia. doelkens 2011-06-09T06:42:10Z UMLS:C0266150|SNOMEDCT_US:83714006 human_phenotype owl:Class HP:0100883 biolink:NamedThing Chorangioma Hamartoma-like growth in the placenta consisting of blood vessels. hp0009lx5z Placental hamartoma Chorioangiomas (also known as placental hemangiomas) are benign hamartomatous growth of the placenta comprising vascular tissue. The classification is controversial due to its pathologic features and clinical implications. Some authors call placental hemangiomas as true nontrophoblastic neoplastic tissues. As this abnormal vascular growth seems like the native placental tissue and it does not metastasize, some authors call it just as placental hamartoma. The general incidence is approximately 0.6 percent. Giant chorioangiomas with a diameter over 5 cm are very rare, with an incidence of one in 16-50 thousand pregnancies. Small tumors do not cause any adverse outcomes and they are asymptomatic. In contrast, tumors larger than 5 cm may lead to several complications. doelkens 2011-12-01T02:50:56Z MSH:D006391|UMLS:C0677608|SNOMEDCT_US:237268002|SNOMEDCT_US:699948001|SNOMEDCT_US:2099007 human_phenotype owl:Class HP:0004554 biolink:NamedThing Generalized hypertrichosis Generalized excessive, abnormal hairiness. hp0009lx5z Generalised hypertrichosis HP:0004543|HP:0004766 UMLS:C3277940 human_phenotype owl:Class HP:0025148 biolink:NamedThing Dark choroid A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). hp0009lx5z 2016-11-29 11:49:16+00:00 The cause of dark choroid is thought to relate to the deposition of an abnormal material (lipofuscin) in the retinal pigment epithelial cells. HPO:probinson owl:Class HP:0100682 biolink:NamedThing Tracheal atresia A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking. hp0009lx5z Diagnosis can be made if the neonate presents with respiratory distress at birth, unable to produce an audible cry in spite of an obvious physical effort, and cannot be intubated but shows some improvement when ventilated by bag and mask. doelkens 2010-12-30T02:09:37Z SNOMEDCT_US:53189005|UMLS:C0265766 human_phenotype owl:Class HP:0002777 biolink:NamedThing Tracheal stenosis hp0009lx5z Narrowing of windpipe UMLS:C0040583|SNOMEDCT_US:11296007|MSH:D014135 human_phenotype owl:Class HP:0010458 biolink:NamedThing Female pseudohermaphroditism Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. hp0009lx5z peter 2009-09-15T08:21:32Z SNOMEDCT_US:8800006|UMLS:C0238394|MSH:D058489 human_phenotype owl:Class HP:0033986 biolink:NamedThing Tortuous lymphatic vessels The presence of an increased number of twists and turns of lymphatic vessels. hp0009lx5z Tortuous lymphatics 2021-07-15 11:55:44+00:00 This feature can be ascertained by near-infrared fluorescence lymphatic imaging. peter owl:Class HP:0031461 biolink:NamedThing Intramuscular Myxoma A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy. hp0009lx5z IM Myxoma 2017-09-17 16:09:34+00:00 peter owl:Class HP:0031460 biolink:NamedThing Benign muscle neoplasm A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]. hp0009lx5z 2017-09-17 16:08:33+00:00 peter owl:Class HP:0031533 biolink:NamedThing Multifocal sub-RPE deposits Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci. hp0009lx5z 2017-09-24 00:51:20+00:00 peter owl:Class HP:0030314 biolink:NamedThing Periostosis Abnormal deposition of periosteal bone. hp0009lx5z UMLS:C1409412 owl:Class HP:0001441 biolink:NamedThing Abnormality of the musculature of the thigh hp0009lx5z Abnormal thigh muscles peter 2008-04-07T10:27:00Z UMLS:C4025783 human_phenotype owl:Class HP:0031719 biolink:NamedThing True distance exotropia Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits. hp0009lx5z 2018-01-13 13:40:43+00:00 peter owl:Class HP:0000476 biolink:NamedThing Cystic hygroma A cystic lymphatic lesion of the neck. hp0009lx5z Cystic hygroma of the neck Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck. SNOMEDCT_US:40225001|NCIT:C8965|UMLS:C0206620|MSH:D018191|SNOMEDCT_US:423984004|SNOMEDCT_US:399882002 human_phenotype owl:Class HP:0012648 biolink:NamedThing Decreased inflammatory response An abnormal reduction in the inflammatory response to injury or infection. hp0009lx5z Decreased inflammatory response peter 2014-02-01T01:29:24Z UMLS:C4022804 human_phenotype owl:Class HP:0012647 biolink:NamedThing Abnormal inflammatory response Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. hp0009lx5z Abnormal inflammatory response peter 2014-02-01T01:25:42Z UMLS:C4022805 human_phenotype owl:Class HP:0040062 biolink:NamedThing Slender radius hp0009lx5z HPO:skoehler UMLS:C1968813 owl:Class HP:0000063 biolink:NamedThing Fused labia minora Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. hp0009lx5z Fused inner lips UMLS:C1837532 human_phenotype owl:Class HP:0001036 biolink:NamedThing Parakeratosis Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. hp0009lx5z Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis. SNOMEDCT_US:200766001|MSH:D010241|UMLS:C0030436|SNOMEDCT_US:65068000 human_phenotype owl:Class HP:0031722 biolink:NamedThing Near esotropia An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved. hp0009lx5z Non-accomodative convergence excess esotropia 2018-01-13 14:06:56+00:00 peter owl:Class HP:0004861 biolink:NamedThing Refractory macrocytic anemia hp0009lx5z Refractory macrocytic anaemia UMLS:C2675059 human_phenotype owl:Class HP:0030652 biolink:NamedThing Vitreous haze Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation. hp0009lx5z UMLS:C4073113 owl:Class HP:0030444 biolink:NamedThing Anal margin melanoma A melanoma that originates in the anal margin. hp0009lx5z UMLS:C4072941 owl:Class HP:0011936 biolink:NamedThing Decreased plasma total carnitine A decreased concentration of total carnitine in the blood. hp0009lx5z Decreased plasma total carnitine peter 2012-06-10T04:20:17Z UMLS:C4023117 human_phenotype owl:Class HP:0011673 biolink:NamedThing Cardiac hemangioma Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium. hp0009lx5z peter 2012-04-09T12:20:13Z NCIT:C3085|UMLS:C1707298 human_phenotype owl:Class HP:0410266 biolink:NamedThing Visceral hemangioma A hemangioma arising from within visceral structures, the internal organs of the body. hp0009lx5z 2018-10-30 01:56:12+00:00 owl:Class HP:0012407 biolink:NamedThing Scissor gait A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. hp0009lx5z Scissor walk|Scissors gait|Scissor gait Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy. peter 2013-11-09T04:15:36Z UMLS:C0231698|SNOMEDCT_US:22090007|MSH:D020233 human_phenotype owl:Class HP:0031958 biolink:NamedThing Spastic paraparetic gait A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait. hp0009lx5z 2018-07-07 14:02:38+00:00 peter owl:Class HP:0006625 biolink:NamedThing Multifocal breast carcinoma Breast carcinoma that is bilateral or otherwise multifocal. hp0009lx5z Multifocal breast cancer UMLS:C2986662 human_phenotype owl:Class HP:0003002 biolink:NamedThing Breast carcinoma The presence of a carcinoma of the breast. hp0009lx5z Breast cancer SNOMEDCT_US:254838004|UMLS:C0678222|MSH:D001943|NCIT:C2916 human_phenotype owl:Class HP:0031729 biolink:NamedThing Moderate hypermetropia A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters. hp0009lx5z Moderate hyperopia 2018-01-21 13:20:25+00:00 peter owl:Class HP:0025041 biolink:NamedThing Thalamic calcification Calcium deposition in the thalamus. hp0009lx5z 2016-09-25 14:15:01+00:00 HPO:probinson owl:Class HP:0031907 biolink:NamedThing Anti-mitochondrial M2 antibody positivity The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum. hp0009lx5z Anti-pyruvate dehydrogenase antibody positivity|AMA-M2 positive 2018-05-19 15:34:03+00:00 Anti-mitochondrial antibody (AMA) can be tested via indirect immunofluorescence. AMAs are biomarkers of primary biliary cirrhosis (PBC) and can also be found in patients with idiopathic inflammatory myopathies. The auto-antigens of AMA have been identified as pyruvate dehydrogenase complex-E2 (PDC-E2), branched-chain 2-oxo acid dehydrogenase complex and 2-oxoglutaric acid dehydrogenase complex. The antibody to these antigens is known as AMA-M2. AMA-M2 is more specific to PBC than AMA, and the determination of its titer is feasible peter owl:Class HP:0006575 biolink:NamedThing Intrahepatic cholestasis with episodic jaundice hp0009lx5z UMLS:C4025019 human_phenotype owl:Class HP:0011416 biolink:NamedThing Placental infarction hp0009lx5z Placental thromboembolism peter 2012-03-15T10:11:39Z UMLS:C0554393|SNOMEDCT_US:268585006 human_phenotype owl:Class HP:0002083 biolink:NamedThing Migraine without aura Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. hp0009lx5z The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (PMID:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis. SNOMEDCT_US:56097005|MSH:D020326|UMLS:C0338480 human_phenotype owl:Class HP:0033213 biolink:NamedThing Elevated urine suberic acid level An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. hp0009lx5z Elevated urine octanedioic acid level 2020-10-12 12:09:07+00:00 peter owl:Class HP:0012645 biolink:NamedThing Enlarged peripheral nerve Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. hp0009lx5z Enlarged peripheral nerves This feature can be appreciated by imaging studies (magnetic resonancy tomography), by palpation along the axis of a nerve, and by biopsy, and may be caused by axonal swelling or by myelin thickening. The differential diagnosis of enlarged peripheral nerves includes leprosy, hereditary motor and sensory neuropathy type 1 (about 30% of patients), but not type 2 (the axonal form), some other polyneuropathies, neurofibromatosis, and nerve tumors. A good review is available in Practical Neurology, 2003,3:40-45 by Michael Donaghy (no pubmed id). peter 2014-02-01T12:44:16Z UMLS:C2675074 human_phenotype owl:Class HP:0100327 biolink:NamedThing Cow milk allergy Hypersensitivity in form of an adverse immune reaction against cow milk protein. hp0009lx5z Milk allergy|Immunoglobulin E-mediated cow milk allergy|IgE-mediated cow milk allergy|Cow milk allergy doelkens 2010-09-16T06:03:58Z SNOMEDCT_US:15911003|UMLS:C0266815 human_phenotype owl:Class HP:0410327 biolink:NamedThing Dairy allergy Hypersensitivity in form of an adverse immune reaction against dairy. hp0009lx5z IgE-mediated dairy allergy|Allergy to dairy|Dairy allergy|Immunoglobulin E-mediated dairy allergy owl:Class HP:0008305 biolink:NamedThing Exercise-induced myoglobinuria Presence of myoglobin in the urine following exercise. hp0009lx5z Exercise-induced myoglobinuria in adults HP:0008319 UMLS:C1860069|UMLS:C1845155 human_phenotype owl:Class HP:0002913 biolink:NamedThing Myoglobinuria Presence of myoglobin in the urine. hp0009lx5z Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction. UMLS:C0027080|SNOMEDCT_US:48165008|MSH:D009212 human_phenotype owl:Class HP:0001285 biolink:NamedThing Spastic tetraparesis Spastic weakness affecting all four limbs. hp0009lx5z Spastic quadriparesis HP:0002393 UMLS:C0575059|SNOMEDCT_US:298282001 owl:Class HP:0500112 biolink:NamedThing Positive urine amphetamine test Detection of amphetamine or its metabolites in urine. hp0009lx5z 2018-06-25 16:49:42+00:00 owl:Class HP:0500057 biolink:NamedThing Retinopathy of prematurity stage 5a An open funnel detachment of the retina with generally traction in all four quadrants. hp0009lx5z ROP stage 5a 2018-02-19 19:16:16+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0033621 biolink:NamedThing Bronchial diverticula Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum. hp0009lx5z 2021-01-30 22:43:23+00:00 peter owl:Class HP:0400005 biolink:NamedThing Short ear Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. hp0009lx5z Short ear|Short ears The commonly used term Microtia is a bundled term comprising decreased length and width (surface area). UMLS:C3551041 owl:Class HP:0033682 biolink:NamedThing Pleomorphic xanthoastrocytoma Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth. hp0009lx5z 2021-03-06 13:14:42+00:00 peter owl:Class HP:0009592 biolink:NamedThing Astrocytoma Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. hp0009lx5z peter 2009-01-28T10:51:01Z SNOMEDCT_US:38713004|MSH:D001254|UMLS:C0004114 owl:Class HP:0005143 biolink:NamedThing Anomalous origin of right pulmonary artery from ascending aorta The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. hp0009lx5z UMLS:C0345037|SNOMEDCT_US:253634009 human_phenotype owl:Class HP:0004968 biolink:NamedThing Recurrent cerebral hemorrhage Recurrent bleeding into the parenchyma of the brain. hp0009lx5z Recurrent hemorrhagic stroke|Recurrent cerebral haemorrhage UMLS:C4025264 human_phenotype owl:Class HP:0001342 biolink:NamedThing Cerebral hemorrhage Hemorrhage into the parenchyma of the brain. hp0009lx5z Bleeding in brain|Hemorrhagic stroke|Intracerebral hemorrhage|Intracerebral haemorrhage|Cerebral haemorrhage A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself. HP:0002137 UMLS:C0553692|UMLS:C2937358|SNOMEDCT_US:274100004|MSH:D020300|SNOMEDCT_US:230706003|MSH:D002543 human_phenotype owl:Class HP:0500034 biolink:NamedThing Nasolacrimal sac obstruction Blockage of the nasolacrimal sac. hp0009lx5z 2018-01-31 16:35:58+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0011575 biolink:NamedThing Imperforate tricuspid valve A tricuspid valve that has failed to open. hp0009lx5z Unopened tricuspid valve Imperforate valve is distinct from atretic valve. The hallmark of an imperforate valve is that it provides potential communication between an atrium and a ventricle. It exists as fused valve leaflets usually possessing their own hypoplastic tensor apparatus. The presence of an imperforate valve may have important surgical implications. Imperforate valve is in contrast to atretic valve with an absent atrioventricular connection. The cornerstone of the diagnosis of an imperformate valve is the identification of a thin mobile membrane between an atrium and a ventrile and the recognition of the tensor apparatus of the valve. In most cases the tensor apparatusis hypoplastic and it maynot be possible to delineate it by echocardiography. peter 2012-04-08T10:37:55Z UMLS:C4023292 human_phenotype owl:Class HP:0025376 biolink:NamedThing Hyperglutaminuria An increased concentration of glutamine in the urine. hp0009lx5z Glutaminuria 2017-04-08 13:20:10+00:00 HPO:probinson owl:Class HP:0007009 biolink:NamedThing Central nervous system degeneration hp0009lx5z CNS degeneration UMLS:C3277687 human_phenotype owl:Class HP:0010364 biolink:NamedThing Patchy sclerosis of 3rd toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Uneven increase in bone density in 3rd toe bone|Patchy sclerosis of the phalanges of the 3rd toe doelkens 2009-07-16T11:51:17Z UMLS:C4021283 human_phenotype owl:Class HP:0031128 biolink:NamedThing Impaired collagen-related peptide-induced platelet aggregation Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP. hp0009lx5z 2017-06-10 12:32:18+00:00 peter owl:Class HP:0032108 biolink:NamedThing Mildly reduced contrast sensitivity A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss. hp0009lx5z Mild reduction in contrast sensitivity 2018-11-17 14:16:34+00:00 peter owl:Class HP:0032036 biolink:NamedThing Abnormal contrast sensitivity An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target. hp0009lx5z 2018-09-01 15:21:51+00:00 peter owl:Class HP:0012731 biolink:NamedThing Ectopic anterior pituitary gland Abnormal anatomic location of the anterior pituitary gland. hp0009lx5z peter 2014-03-23T02:41:41Z HP:0011765 UMLS:C4022751 human_phenotype owl:Class HP:0008202 biolink:NamedThing Reduced circulating prolactin concentration A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. hp0009lx5z Prolactin deficiency SNOMEDCT_US:67873006|UMLS:C0271586|MSH:C562708 human_phenotype owl:Class HP:0030356 biolink:NamedThing Increased serum interferon-gamma level An elevation in the concentration of interferon gamma measured in the blood circulation. hp0009lx5z UMLS:C4072900 owl:Class HP:0012365 biolink:NamedThing Hypophosphaturia An abnormally decreased phosphate concentration in the urine. hp0009lx5z Low urine phosphate levels peter 2013-10-03T10:25:06Z SNOMEDCT_US:91632005|UMLS:C0268077 human_phenotype owl:Class HP:0012844 biolink:NamedThing Trichilemmoma A benign tumour originating from the outer root sheath of the hair follicle. hp0009lx5z Tricholemmoma peter 2014-06-06T08:05:05Z SNOMEDCT_US:46199002|SNOMEDCT_US:274900003|UMLS:C0334263 human_phenotype owl:Class HP:0002039 biolink:NamedThing Anorexia A lack or loss of appetite for food (as a medical condition). hp0009lx5z Anorexia Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat). SNOMEDCT_US:79890006|UMLS:C0003123|MSH:D000855 human_phenotype owl:Class HP:0500273 biolink:NamedThing Increased proportion of immature gamma-delta T cells Increased proportion of immature gamma-delta T cells relative to the total number of T cells. hp0009lx5z Elevated proportion of immature gamma-delta T cells|Increased proportion of immature gamma-delta T-cells|Increased proportion of immature gamma-delta T-lymphocytes|Increased proportion of immature gamma-delat T lymphocytes 2020-05-19 15:39:31+00:00 owl:Class HP:0010154 biolink:NamedThing Irregular epiphysis of the 1st metatarsal hp0009lx5z Irregular end part of the 1st long bone of foot doelkens 2009-05-29T01:24:17Z UMLS:C4024005 human_phenotype owl:Class HP:0032288 biolink:NamedThing Polyclonal elevation of circulating IgG An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains. hp0009lx5z 2019-02-12 22:19:07+00:00 peter owl:Class HP:0009277 biolink:NamedThing Contracture of the metacarpophalangeal joint of the 4th finger Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue. hp0009lx5z doelkens 2009-01-07T04:10:39Z UMLS:C4024475 human_phenotype owl:Class HP:0012728 biolink:NamedThing Fusiform descending thoracic aortic aneurysm A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall hp0009lx5z Dilatation of the fusiform descending thoracic aorta Aneurysm is considered a severe form of dilatation. peter 2014-03-23T02:26:12Z UMLS:C4022753 human_phenotype owl:Class HP:0100759 biolink:NamedThing Clubbing of fingers Terminal broadening of the fingers (distal phalanges of the fingers). hp0009lx5z Finger clubbing|Clubbing (hands)|Clubbed fingers|Clubbing of fingers doelkens 2011-06-07T10:25:26Z SNOMEDCT_US:30760008|UMLS:C0009080|MEDDRA:10016680|MSH:D010005 human_phenotype owl:Class HP:0030555 biolink:NamedThing Best corrected visual acuity 0.2 LogMAR hp0009lx5z UMLS:C4073028 owl:Class HP:0004894 biolink:NamedThing Laryngotracheal stenosis hp0009lx5z UMLS:C3806280 human_phenotype owl:Class HP:0001602 biolink:NamedThing Laryngeal stenosis Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. hp0009lx5z UMLS:C0023075|SNOMEDCT_US:75547007|MSH:D007829 human_phenotype owl:Class HP:0010135 biolink:NamedThing Small epiphysis of the proximal phalanx of the hallux hp0009lx5z Small end part of the innermost bone of the big toe doelkens 2009-05-29T01:22:23Z UMLS:C4024024 human_phenotype owl:Class HP:0001414 biolink:NamedThing Microvesicular hepatic steatosis A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. hp0009lx5z Microvesicular steatosis This finding can be demonstrated by liver biopsy. UMLS:C1850415 human_phenotype owl:Class HP:0001397 biolink:NamedThing Hepatic steatosis Steatosis is a term used to denote lipid accumulation within hepatocytes. hp0009lx5z Steatosis|Fatty infiltration of liver|Liver steatosis|Fatty liver Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. HP:0002252|HP:0200121 SNOMEDCT_US:442191002|SNOMEDCT_US:197321007|MSH:D005234|UMLS:C2711227 owl:Class HP:0025458 biolink:NamedThing Decreased CSF albumin concentration CSF albumin level is below the lower limit of normal. hp0009lx5z Low CSF albumin 2017-05-05 10:46:15+00:00 HPO:probinson owl:Class HP:0031210 biolink:NamedThing Abnormal circulating hyaluronic acid concentration A deviation from the normal concentration of hyaluronic acid in the blood. hp0009lx5z 2017-07-02 11:00:02+00:00 Serum hyaluronic acid (HA) is considered to be a marker of liver function. HA is a glycosaminoglycan that is rapidly cleared from the circulation by the liver via receptor mediated endocytosis into sinusoidal endothelial cells. peter owl:Class HP:0011012 biolink:NamedThing Abnormal circulating polysaccharide concentration A deviation from the normal concentration of a polysaccharide in the blood circulation. hp0009lx5z peter 2011-02-21T09:46:11Z UMLS:C4023600 human_phenotype owl:Class HP:0025167 biolink:NamedThing Fragmented elastic fibers in the dermis Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers. hp0009lx5z Fragmented elastic fibres in the dermis 2016-12-04 13:56:23+00:00 HPO:probinson owl:Class HP:0012343 biolink:NamedThing Decreased circulating ferritin concentration Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. hp0009lx5z Low ferritin level|Decreased plasma ferritin|Reduced serum ferritin|Decreased serum ferritin Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. peter 2013-09-13T09:51:46Z UMLS:C0241012 owl:Class HP:0040133 biolink:NamedThing Abnormal circulating ferritin concentration A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. hp0009lx5z Abnormal serum ferritin|Abnormal plasma ferritin Ferritin is an iron storage protein present in all cells of the organism. A small amount is found in plasma and serum, which is a reflection of iron stores in healthy individuals. A low serum ferritin concentration is usually regarded as an indicator of iron depletion, although the interpretation of normal or high serum ferritin values is challenging in the presence of acute or chronic inflammatory processes, as ferritin is increased in iron overload states and inflammation. HPO:skoehler UMLS:C0853228 owl:Class HP:0045018 biolink:NamedThing Partial duplication of eyebrows hp0009lx5z Partial double eyebrow|Partial duplication of eyebrows HPO:skoehler UMLS:C4022396 owl:Class HP:0033509 biolink:NamedThing EBV encephalitis Inflamation of the brain related to infection by Epstein-Barr virus. hp0009lx5z Epstein-Barr virus encephalitis 2021-01-10 17:18:31+00:00 peter owl:Class HP:0031691 biolink:NamedThing Severe viral infection An unusually severe viral infection. hp0009lx5z 2017-12-17 22:28:59+00:00 The majority of viral infections acquired by nonimmunosuppressed individuals are asymptomatic or result in mild clinical manifestations. These individuals are able to mount effective immune responses that either clear the virus from the body or, for viruses that establish latency, maintain the virus in a dormant state. For individuals who are immunocompromised, because of a genetic immunodeficiency or immunosuppressive drug therapy, viral infections may result in life-threatening disease. Such patients present with infections that are severe, persistent, recurrent, or refractory to therapy and are usually caused by viruses of low virulence prevalent in the community. peter owl:Class HP:0003923 biolink:NamedThing Square humeral metaphysis hp0009lx5z Square metaphysis of long bone of upper arm UMLS:C4025504 human_phenotype owl:Class HP:0001169 biolink:NamedThing Broad palm For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. hp0009lx5z Broad palm|Broad hand|Broad hands|Wide palm Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ). HP:0001174 UMLS:C0264142|SNOMEDCT_US:48251003 human_phenotype owl:Class HP:0033324 biolink:NamedThing Elevated circulating homovanillic acid concentration Increased concentration of homovanillic acid in the blood circulation. hp0009lx5z 2020-11-29 14:09:50+00:00 Homovanillic acid is the main metabolite produced from dopamine degradation by the action of monoamine oxidase. peter owl:Class HP:0000211 biolink:NamedThing Trismus Limitation in the ability to open the mouth. hp0009lx5z Pain of muscles of mastication|Limited jaw movement|Decrease in mandibular mobility|Decrease in jaw opening|Limited mandibular mobility|Decrease in mandibular movement|Limited mouth opening|Decrease in jaw mobility|Limited jaw opening|Lockjaw|Limited mandibular opening|Decrease in jaw movement|Decrease in mandibular opening|Limited jaw mobility UMLS:C1848474|SNOMEDCT_US:87866006|MSH:D014313|UMLS:C4228933|UMLS:C0041105|UMLS:C4280672 owl:Class HP:0032793 biolink:NamedThing Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0012463 biolink:NamedThing Elevated transferrin saturation An above normal level of saturation of serum transferrin with iron. hp0009lx5z Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. peter 2013-11-24T12:46:56Z UMLS:C4022892 human_phenotype owl:Class HP:0030505 biolink:NamedThing Nummular pigmentation of the fundus Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. hp0009lx5z Nummular pigmentation of the retina UMLS:C4072990 owl:Class HP:0020181 biolink:NamedThing Reduced haptoglobin level An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state. hp0009lx5z robinp 2019-07-11 20:36:13+00:00 owl:Class HP:0032478 biolink:NamedThing Lateral spinal meningocele Protrusion of the arachnoid and dura through spinal foramina. hp0009lx5z 2019-04-09 12:13:41+00:00 peter owl:Class HP:0000978 biolink:NamedThing Bruising susceptibility An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. hp0009lx5z Bruisability|Bruise easily|Easy bruising|Easy bruisability|Bruising susceptibility An ecchymosis is defined as being larger than 1 cm in size. HP:0007433|HP:0000959|HP:0007472 SNOMEDCT_US:302227002|UMLS:C0423798|SNOMEDCT_US:424131007|UMLS:C0013491|MSH:D004438|SNOMEDCT_US:77643000|SNOMEDCT_US:425075004 human_phenotype owl:Class HP:0001933 biolink:NamedThing Subcutaneous hemorrhage This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). hp0009lx5z Bleeding below the skin|Subcutaneous haemorrhage Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. peter 2008-02-28T07:14:00Z UMLS:C0854107 human_phenotype owl:Class HP:0012748 biolink:NamedThing Focal T2 hyperintense brainstem lesion A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem. hp0009lx5z peter 2014-03-30T06:43:06Z UMLS:C4022748 human_phenotype owl:Class HP:0500066 biolink:NamedThing Latent myopia The difference between total and manifest myopia. hp0009lx5z 2018-02-26 17:14:19+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0006829 biolink:NamedThing Severe muscular hypotonia A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. hp0009lx5z Hypotonia, severe|Severely decreased muscle tone HP:0002347 UMLS:C1839630 human_phenotype owl:Class HP:0100252 biolink:NamedThing Diaphyseal dysplasia hp0009lx5z doelkens 2010-07-14T05:01:38Z SNOMEDCT_US:318761000119105|MSH:D003966|SNOMEDCT_US:34643004|UMLS:C0011989 human_phenotype owl:Class HP:0004563 biolink:NamedThing Increased spinal bone density Increased bone density affecting the bones of the spine (vertebral column). hp0009lx5z Concrete spinal bone|Compact spinal bone|Increased density of spinal bone|Ivory spinal bone|Eburnation of spinal bone|increased spinal bone density Z|Dense spinal bone|Sclerosis of spinal bone UMLS:C4280515|UMLS:C4020828|UMLS:C4280513|UMLS:C4280254|UMLS:C4280514 human_phenotype owl:Class HP:0012301 biolink:NamedThing Type II transferrin isoform profile Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. hp0009lx5z Abnormal isoelectric focusing of serum transferrin, type II pattern|Abnormal isoelectric focusing of serum transferrin, type 2 pattern|Isoelectric focusing of serum transferrin consistent with CDG type II|Type 2 transferrin isoform profile There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal. peter 2013-04-14T08:55:20Z UMLS:C4021094 human_phenotype owl:Class HP:0410069 biolink:NamedThing Increased level of propylene glycol in blood An increase in the level of propylene glycol in the blood. hp0009lx5z Increased level of propane-1,2-diol in blood 2018-01-29 22:57:39+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0007187 biolink:NamedThing Focal lissencephaly A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex. hp0009lx5z UMLS:C1855230 human_phenotype owl:Class HP:0010465 biolink:NamedThing Precocious puberty in females The onset of puberty before the age of 8 years in girls. hp0009lx5z peter 2009-09-15T08:48:42Z UMLS:C0271616|SNOMEDCT_US:19911007 human_phenotype owl:Class HP:0032480 biolink:NamedThing Beta-aminoisobutyric aciduria An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine. hp0009lx5z 2019-04-09 12:49:03+00:00 peter owl:Class HP:0032161 biolink:NamedThing Coccidioidal meningitis A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges. hp0009lx5z 2018-12-09 12:30:16+00:00 Coccidioides species are soil-dwelling fungi that are the causative pathogen of coccidioidomycosis, also known as Valley fever. Infection occurs from inhalation of fungal spores that become airborne from soil in endemic regions. Sixty percent of infections are asymptomatic. The rate of dissemination from primary infection to extrapulomonary sites is higher in immune-compromised individuals. A common site of dissemination is to the basilar meninges, resulting in coccidioidal meningitis. peter owl:Class HP:0010969 biolink:NamedThing Abnormality of glycolipid metabolism An abnormality of glycolipid metabolism. hp0009lx5z peter 2011-01-27T09:25:31Z UMLS:C4023621 human_phenotype owl:Class HP:0031089 biolink:NamedThing Palatal edema Swelling related to fluid accumulation within the palate. hp0009lx5z Palate oedema|Palate edema|Palatal oedema 2017-05-29 00:54:26+00:00 peter owl:Class HP:0009729 biolink:NamedThing Cardiac rhabdomyoma A benign tumor of cardiac striated muscle. hp0009lx5z peter 2009-01-31T10:53:11Z UMLS:C1332852 owl:Class HP:0009730 biolink:NamedThing Rhabdomyoma A benign tumor of striated muscle. hp0009lx5z peter 2009-01-31T10:54:01Z SNOMEDCT_US:43375002|SNOMEDCT_US:302846007|UMLS:C0035411|NCIT:C3358|MSH:D012207|SNOMEDCT_US:402877008 human_phenotype owl:Class HP:0007750 biolink:NamedThing Hypoplasia of the fovea Underdevelopment of the fovea centralis. hp0009lx5z Foveal hypoplasia|Dull foveal reflex A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea. UMLS:C4072863|UMLS:C2673946 human_phenotype owl:Class HP:0008060 biolink:NamedThing Aplasia/Hypoplasia of the fovea Congenital absence or underdevelopment of the fovea centralis. hp0009lx5z Absent/underdeveloped fovea peter 2008-04-02T03:30:00Z UMLS:C4024741 human_phenotype owl:Class HP:0010446 biolink:NamedThing Tricuspid stenosis A narrowing of the orifice of the tricuspid valve of the heart. hp0009lx5z Tricuspid stenosis results in characteristic changes in the jugular venous pulse in the form of leisurely V to Y descent and prominent a-waves. The liver is enlarged with a firm edge and is pulsatile in presystole. This is best appreciated with one hand on the liver edge and one on the precordium. Auscultation reveals a low- to medium-pitched diastolic rumble with inspiratory accentuation. This is usually localized to the lower sternal border. peter 2009-09-14T10:10:10Z MSH:D014264|SNOMEDCT_US:49915006|UMLS:C0040963|ICD-10:Q22.4|EPCC:06.01.92 owl:Class HP:0003341 biolink:NamedThing Subepidermal blistering with cleavage in the lamina lucida The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. hp0009lx5z Junctional split|Blistering with junctional split|Subepidermal blistering with cleavage in the lamina lucida UMLS:C4021730 owl:Class HP:0033804 biolink:NamedThing Subepidermal blistering A type of blistering in which the lesions are located beneath the epidermis. hp0009lx5z 2021-05-08 15:09:28+00:00 peter owl:Class HP:0031742 biolink:NamedThing Inferior rectus muscle underaction Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. hp0009lx5z 2018-01-21 14:07:33+00:00 peter owl:Class HP:0025601 biolink:NamedThing Inferior rectus muscle weakness Decreased strength of the inferior rectus muscle. hp0009lx5z 2018-01-13 22:23:13+00:00 HPO:probinson owl:Class HP:0008089 biolink:NamedThing Abnormality of the fifth metatarsal bone An anomaly of the fifth metatarsal bone. hp0009lx5z Abnormality of the 5th long bone of foot UMLS:C4024733 human_phenotype owl:Class HP:0100312 biolink:NamedThing Cerebral germinoma The presence of a germ cell tumor of the cerebrum. hp0009lx5z doelkens 2010-08-10T03:17:16Z NCIT:C3708|UMLS:C4022151 human_phenotype owl:Class HP:0001891 biolink:NamedThing Iron deficiency anemia hp0009lx5z Iron-deficiency anemia|Ferropenic|Iron deficiency anaemia|Iron-deficiency anaemia UMLS:C0162316|MSH:D018798|SNOMEDCT_US:87522002 human_phenotype owl:Class HP:0031756 biolink:NamedThing Medial rectus muscle underaction Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. hp0009lx5z 2018-01-21 14:29:07+00:00 peter owl:Class HP:0033874 biolink:NamedThing Cortical peritubular capillary lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. hp0009lx5z 2021-06-23 19:24:00+00:00 peter owl:Class HP:0001827 biolink:NamedThing Genital tract atresia Congenital occlusion of a tube in the genital tract. hp0009lx5z peter 2008-02-27T04:08:00Z HP:0001534 UMLS:C4025746 owl:Class HP:0032672 biolink:NamedThing Autonomic status epilepticus Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal. hp0009lx5z Autonomic disturbances may include tachycardia, cardiac arrhythmia, hypertension, high fever, salivation, vomiting and incontinence. peter owl:Class HP:0100069 biolink:NamedThing Enlarged epiphyses of the 4th toe hp0009lx5z Enlarged end part of the 4th toe bone doelkens 2010-06-24T09:59:30Z UMLS:C4022352 human_phenotype owl:Class HP:0031891 biolink:NamedThing Decreased eosinophil count Abnormal reduction in the count of eosinophils in the blood per volume. hp0009lx5z 2018-05-13 20:35:28+00:00 peter owl:Class HP:0006380 biolink:NamedThing Knee flexion contracture A bent (flexed) knee joint that cannot be straightened actively or passively. hp0009lx5z Knee contractures|Flexion contractures of knees|Knee flexion deformity|Flexion contracture of knees|Knee contracture|Contractures of knees|Contractures of the knees|Flexion contractures at both knees|Inability to straighten knee|Knee flexion contractures|Flexion deformity of the knee HP:0002978 SNOMEDCT_US:202289003|UMLS:C0409355 human_phenotype owl:Class HP:0002951 biolink:NamedThing Partial absence of cerebellar vermis Congenital absence of a part of the vermis of cerebellum. hp0009lx5z UMLS:C4025667 human_phenotype owl:Class HP:0006645 biolink:NamedThing Thin clavicles Abnormally reduced diameter (cross section) of the clavicles. hp0009lx5z Thin collarbone UMLS:C0575535|SNOMEDCT_US:298764003 human_phenotype owl:Class HP:0010649 biolink:NamedThing Flat nasal alae An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). hp0009lx5z Flat nasal alar cartilage|Depressed nasal alae peter 2010-02-25T10:01:47Z UMLS:C4023759 human_phenotype owl:Class HP:0033883 biolink:NamedThing Abnormal cortical radial artery morphology Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. hp0009lx5z Abnormal interlobular artery morphology 2021-06-23 19:58:07+00:00 peter owl:Class HP:0032276 biolink:NamedThing Prominent subcalcaneal fat pad Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062. hp0009lx5z 2019-01-27 21:38:03+00:00 This pad normally protects the foot against the forces to which it is exposed during the ground contact phase of each step. peter owl:Class HP:0032386 biolink:NamedThing Elevated circulating transferrin concentration An abnormally increased concentration of transferrin in the blood circulation. hp0009lx5z Elevated transferrin level 2019-02-24 15:34:30+00:00 peter owl:Class HP:0012354 biolink:NamedThing Increased fucosylation of N-linked protein glycosylation Increased addition of fucose sugar units to N-linked glycans. hp0009lx5z peter 2013-09-15T10:21:15Z UMLS:C4022937 human_phenotype owl:Class HP:0012352 biolink:NamedThing Abnormal fucosylation of protein N-linked glycosylation An anomaly of the addition of fucose sugar units to N-linked glycans. hp0009lx5z peter 2013-09-15T10:17:55Z UMLS:C4022939 human_phenotype owl:Class HP:0010749 biolink:NamedThing Blepharochalasis Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. hp0009lx5z Saggy upper eyelid skin Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Most of these atrophic patients do not go through a hypertrophic phase. Multiple attacks of eyelid edema result in thinning, stretching, and atrophy of eyelid tissues. The eyelid skin becomes redundant, discolored, and atrophic, appearing like wrinkled cigarette paper. The upper eyelids are more commonly affected, but the lower eyelids may also be involved. Blepharochalasis is not synonymous with dermatochalasis. sdoelken 2010-04-23T09:53:13Z SNOMEDCT_US:47704002|UMLS:C0005742 human_phenotype owl:Class HP:0012568 biolink:NamedThing Lower eyelid edema Edema in the region of the Lower eyelid. hp0009lx5z Swelling of lower eyelid|Lower eyelid oedema|Puffiness of lower eyelid|Fullness of lower eyelid|Cellulitis of lower eyelid peter 2014-01-04T02:25:56Z SNOMEDCT_US:700327003|UMLS:C3839997|UMLS:C2025810 human_phenotype owl:Class HP:0002366 biolink:NamedThing Abnormal lower motor neuron morphology Any structural anomaly of the lower motor neuron. hp0009lx5z Lower motor neuron disease|Lower motor neuron manifestations|Lower motor neuron signs previous def: 'has part' some (quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal)) HP:0007276 UMLS:C1865412 human_phenotype owl:Class HP:0032780 biolink:NamedThing Focal impaired awareness autonomic seizure with erection A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0100931 biolink:NamedThing Sclerosis of the proximal phalanx of the 2nd toe An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in the innermost bone of the 2nd toe UMLS:C4021927 human_phenotype owl:Class HP:0040016 biolink:NamedThing Prominent coccyx hp0009lx5z Prominent tailbone HPO:skoehler UMLS:C4022490 owl:Class HP:0004403 biolink:NamedThing Proximal esophageal atresia hp0009lx5z peter 2008-03-18T09:17:00Z UMLS:C4025325 human_phenotype owl:Class HP:0031451 biolink:NamedThing Lower extremity subcutanous fat hypertrophy An abnormal increase in the amount of subcutaneous fat in the legs. hp0009lx5z 2017-09-17 15:21:32+00:00 peter owl:Class HP:0032979 biolink:NamedThing Hemosiderin-laden macrophages in bronchoalveolar fluid Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP). hp0009lx5z Siderophages in bronchoalveolar fluid|Accumulation of hemosiderin laden alveolar macrophages Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. peter owl:Class HP:0000308 biolink:NamedThing Microretrognathia A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. hp0009lx5z Retromicrognathia|Small retruded chin UMLS:C1839546 human_phenotype owl:Class HP:0000278 biolink:NamedThing Retrognathia An abnormality in which the mandible is mislocalised posteriorly. hp0009lx5z Weak chin|Receding chin|Receding mandible|Receding lower jaw|Weak jaw|Retrogenia|Retrognathia of lower jaw|Lower jaw retrognathia HP:0002954|HP:0002053 UMLS:C3494422|MSH:D063173 human_phenotype owl:Class HP:0006637 biolink:NamedThing Sternal punctate calcifications hp0009lx5z UMLS:C1859121 human_phenotype owl:Class HP:0100753 biolink:NamedThing Schizophrenia A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. hp0009lx5z Positive symptoms, such as delusions and hallucinations (especially of voices), are common, and any Schneiderian first-rank symptoms are particularly indicative of the illness. Negative symptoms include social withdrawal, impairment of ego boundaries, and loss of energy and initiative. Schizophrenia is diagnosed only if symptoms persist for at least one month. The illness can spontaneously remit, run a course with infrequent or frequent relapses, or become chronic. The prognosis has improved with antipsychotic drugs and with vigorous psychological and social management and rehabilitation. The many causes include genetic factors, environmental stress, and various triggering factors. doelkens 2011-06-07T09:53:08Z UMLS:C0036341|SNOMEDCT_US:58214004|MSH:D012559|SNOMEDCT_US:191526005 human_phenotype owl:Class HP:0100266 biolink:NamedThing Synostosis of carpals/tarsals The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. hp0009lx5z Fusion of carpal and tarsal bones|Carpal and tarsal fusions|Wrist bone/ankle bone fusions|Coalescence of carpal and tarsal bones doelkens 2010-07-20T03:02:14Z HP:0005675|HP:0005823|HP:0005666 UMLS:C4021025 human_phenotype owl:Class HP:0033748 biolink:NamedThing Hypoesthesia Decreased ability to perceive touch. hp0009lx5z Numbness|Hypoaesthesia 2021-04-21 11:10:28+00:00 In hte literature, hypoesthesia is not used specifically to denote loss of tactile sensation, but can be used to refer to losses of all types of sensation. Here, we use the term to refer to exteroceptive sensation. peter owl:Class HP:0002217 biolink:NamedThing Slow-growing hair Hair whose growth is slower than normal. hp0009lx5z Slow rate of hair growth|Slow-growing hair|Slow speed of hair growth|Slow growing hair HP:0004767|HP:0004781|HP:0004770 UMLS:C1832348 human_phenotype owl:Class HP:0100963 biolink:NamedThing Hyperesthesia Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. hp0009lx5z Hyperaesthesia Hyperesthesia is a common symptom of neuropathic pain. Neuropathic pain is defined by the International Association for the Study of Pain as pain caused by a lesion or disease of the somatosensory system. The neuropathic pain phenotype contains a spectrum of symptoms that can be roughly categorized into positive and negative symptoms. Hyperesthesia is a positive symptom of neuropathic pain. Positive symptoms are categorized as stimulus-dependent pain, stimulus-independent pain, and paresthesias. doelkens 2012-01-18T06:11:19Z UMLS:C0020453|SNOMEDCT_US:14151009|MSH:D006941 owl:Class HP:0002594 biolink:NamedThing Pancreatic hypoplasia Hypoplasia of the pancreas. hp0009lx5z Hypoplastic pancreas|Underdeveloped pancreas Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size. HP:0005221 UMLS:C0266267|SNOMEDCT_US:68591005 human_phenotype owl:Class HP:0003867 biolink:NamedThing Humeral cortical irregularity hp0009lx5z UMLS:C4025543 human_phenotype owl:Class HP:0005731 biolink:NamedThing Cortical irregularity An abnormal irregularity of cortical bone. hp0009lx5z UMLS:C4025145 human_phenotype owl:Class HP:0031999 biolink:NamedThing Expiratory crackles Crackles that occur during expiration. hp0009lx5z 2018-07-15 21:50:28+00:00 Crackles are predominantly inspiratory in nature, but can also occur during expiration. It has been described in COPD, bronchiectasis, and IPF. One theory of the pathogenesis of expritory crackles states that some airways collapse during early expiration and air trapping develops. As expiration progresses, the pressure in the trapped region gradually increase, leading to a widened pressure difference across the airways. Once this pressure difference reaches the critical opening pressure, the airway pops open during expiration, producing crackles. peter owl:Class HP:0030830 biolink:NamedThing Crackles Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position. hp0009lx5z Rales|Crepitations Rales are fine, discontinuous crackles that can sound like cellophane being crumpled or velcro being pulled apart. They may be heard with a stethoscope when listening over lungs containing more than the normal amount of fluid secretiions. MSH:D012135|SNOMEDCT_US:48409008|UMLS:C0034642 owl:Class HP:0009267 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 4th finger Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the innermost ring finger bone doelkens 2009-01-07T12:12:59Z UMLS:C4024482 human_phenotype owl:Class HP:0011783 biolink:NamedThing Thyrotoxicosis from ectopic thyroid tissue hp0009lx5z peter 2012-04-22T06:10:51Z SNOMEDCT_US:87232008|UMLS:C0154148 human_phenotype owl:Class HP:0004333 biolink:NamedThing Bone-marrow foam cells The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. hp0009lx5z Large vacuolated foam cells on bone marrow biopsy|Bone marrow foam cells|Large vacuolated foam cells ('NP cells') on bone marrow biopsy peter 2008-02-28T06:48:00Z HP:0001979 UMLS:C1856560 human_phenotype owl:Class HP:0000067 biolink:NamedThing Urethral atresia, female Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females. hp0009lx5z UMLS:C4025890 human_phenotype owl:Class HP:0003738 biolink:NamedThing Exercise-induced myalgia The occurrence of an unusually high amount of muscle pain following exercise. hp0009lx5z Muscle pain, exercise-induced|Exercise-induced muscle pain|Muscle pain on exercise|Muscle pain with exercise UMLS:C1850830 human_phenotype owl:Class HP:0003326 biolink:NamedThing Myalgia Pain in muscle. hp0009lx5z Myalgias|Muscle ache|Muscle pain HP:0003718 MSH:D063806|UMLS:C0231528|SNOMEDCT_US:68962001 human_phenotype owl:Class HP:0008559 biolink:NamedThing Hypoplastic superior helix hp0009lx5z Underdeveloped superior helices HP:0008627 UMLS:C1865305 human_phenotype owl:Class HP:0008589 biolink:NamedThing Hypoplastic helices Underdevelopment of the helix, i.e., of the outer rim of the pinna. hp0009lx5z Underdeveloped helices UMLS:C1842681 human_phenotype owl:Class HP:0004037 biolink:NamedThing Abnormality of the ulnar epiphyses hp0009lx5z Abnormality of the epiphyseal plate of the ulna UMLS:C4021689 human_phenotype owl:Class HP:0025147 biolink:NamedThing Beaten bronze macular sheen A shiny appearance of the macula, which is often called a beaten bronze appearance. hp0009lx5z Beaten-bronze macular appearance|Beaten metal macular appearance|Beaten-bronze macular sheen 2016-11-29 11:37:39+00:00 This feature may be seen in Stargardt disease. HPO:probinson owl:Class HP:0012422 biolink:NamedThing Villous hypertrophy of choroid plexus Overgrowth of the choroid plexus. hp0009lx5z Choroid plexus hypertrophy|Diffuse villous hypertrophy of choroid plexus The most common location for overgrowth is the lateral ventricles. The choroid plexus folds into many villi around capillaries, creating frond-like processes that project into the ventricles. The terms choroid plexus hypertrophy or choroid plexus hyperplasia are used interchangeably to refer to an increase in size of these structures. Diffuse villous hyperplasia of choroid plexus (DVHCP) is a rare condition which is characterized by the presence of diffuse enlargement of the entire choroid plexus throughout the length of the choroidal fissure and overproduction of CSF. peter 2013-11-11T07:50:37Z UMLS:C4021089|UMLS:C4020728 human_phenotype owl:Class HP:0005946 biolink:NamedThing Ventilator dependence with inability to wean hp0009lx5z UMLS:C4025097 human_phenotype owl:Class HP:0012434 biolink:NamedThing Delayed social development A failure to meet one or more age-related milestones of social behavior. hp0009lx5z Delayed social development This term should be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of 3 months, a child smiles in response to social interaction, at the age of 7 months, a child responds to the facial expressions of others, and at the age of 12 months a child is shy around strangers. peter 2013-11-23T08:40:29Z UMLS:C4022906 human_phenotype owl:Class HP:0025203 biolink:NamedThing Caput medusae Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins. hp0009lx5z Palm tree sign 2016-12-10 13:11:24+00:00 Caput medusae is a sign of severe portal hypertension with portal-systemic shunting through the umbilical veins. The name refers to Medusa's hair once Minerva had turned it into snakes. Caput Medusae can be distinguished from inferior vena cava obstruction by determining the direction of flow in the veins below the umbilicus; it is towards the legs in caput medusae, and towards the head with inferior vena cava obstruction. HPO:probinson owl:Class HP:0030168 biolink:NamedThing Dilated superficial abdominal veins Increase in diameter of the veins located underneath the skin of the abdomen. hp0009lx5z Dilatation of the superficial abdominal veins There are two major causes of dilated superficial abdominal veins: (i) Liver cirrhosis and (ii) vena cava obstruction. With cirrhosis, the blood in the veins flows from umbilicus to periphery. UMLS:C4021050 owl:Class HP:0033586 biolink:NamedThing Cellular non-specific interstitial pneumonia A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia. hp0009lx5z 2021-01-27 20:46:02+00:00 peter owl:Class HP:0033584 biolink:NamedThing Nonspecific interstitial pneumonia Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa. hp0009lx5z NSIP|Nonspecific interstitial pneumonitis|Temporally uniform pulmonary inflammation 2021-01-27 20:40:09+00:00 peter owl:Class HP:0032231 biolink:NamedThing Hypochromia A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells. hp0009lx5z 2019-01-26 14:52:08+00:00 peter owl:Class HP:0031309 biolink:NamedThing Cerebral artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery. hp0009lx5z 2017-08-26 21:34:47+00:00 peter owl:Class HP:0012661 biolink:NamedThing Hypothalamic hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan. hp0009lx5z Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the hypothalamus. peter 2014-02-15T11:37:59Z UMLS:C4022795 human_phenotype owl:Class HP:0012554 biolink:NamedThing Absent thumbnail Absence of thumb nail. hp0009lx5z peter 2014-01-04T01:05:52Z UMLS:C4022849 human_phenotype owl:Class HP:0031139 biolink:NamedThing Frog-leg posture A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. hp0009lx5z 2017-06-10 22:38:18+00:00 peter owl:Class HP:0003593 biolink:NamedThing Infantile onset Onset of signs or symptoms of disease between 28 days to one year of life. hp0009lx5z Onset in first year of life|Onset in infancy|Infantile onset Onset of signs or symptoms of disease within the first 12 months of life. HP:0003600|HP:0003579|HP:0003591|HP:0003672|HP:0010573|HP:0003631|HP:0003629|HP:0003594|HP:0003599|HP:0003667|HP:0003576 UMLS:C1848924 human_phenotype owl:Class HP:0410280 biolink:NamedThing Pediatric onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. hp0009lx5z Paediatric onset|Onset before adulthood 2018-11-01 15:27:45+00:00 owl:Class HP:0032917 biolink:NamedThing Focal aware sexual automatism seizure A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0032905 biolink:NamedThing Focal sexual automatism seizure A type of focal automatism seizure characterized by involuntary sexual behavior at onset. hp0009lx5z peter owl:Class HP:0006521 biolink:NamedThing Pulmonary lymphangiectasia Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. hp0009lx5z Pulmonary lymphangiectasis HP:0006526|HP:0006551 UMLS:C1855480 human_phenotype owl:Class HP:0033735 biolink:NamedThing Grade I vesicoureteral reflux Vesicoureteral reflux into the ureter only. hp0009lx5z VUR I|Grade I VUR 2021-04-16 13:58:30+00:00 peter owl:Class HP:0032934 biolink:NamedThing Spontaneous cerebrospinal fluid leak A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak). hp0009lx5z peter owl:Class HP:0000637 biolink:NamedThing Long palpebral fissure Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. hp0009lx5z Broad palpebral fissure|Broad opening between the eyelids|Long palpebral fissures|Long opening between the eyelids|Wide palpebral fissures|Wide opening between the eyelids|Wide palpebral fissure HP:0007904 UMLS:C1849340 human_phenotype owl:Class HP:0031450 biolink:NamedThing Polycyclic A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge. hp0009lx5z 2017-09-17 15:00:02+00:00 peter owl:Class HP:0012878 biolink:NamedThing Retarded ejaculation Difficulty of a male in achieving orgasm. hp0009lx5z Delayed ejaculation hecht 2014-06-09T11:29:28Z SNOMEDCT_US:15405008|UMLS:C0234047 human_phenotype owl:Class HP:0032908 biolink:NamedThing Focal aware undressing automatism seizure A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0045041 biolink:NamedThing Reduced lactate dehydrogenase B level A decreased or reduced level of the enzyme lactate dehydrogenase in serum. hp0009lx5z Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. The B subunit of that enzyme is encoded by LDHB. UMLS:C3279904|MSH:C563641 owl:Class HP:0100616 biolink:NamedThing Testicular teratoma The presence of a teratoma of the testis. hp0009lx5z An encapsulated tumor of the testis with tissue or organ components resembling normal derivatives of all three germ layers. doelkens 2010-12-28T11:42:18Z UMLS:C0238451|MSH:C562472|NCIT:C3403 human_phenotype owl:Class HP:0009679 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the thumb Epiphysis of the distal phalanx of the thumb having multiple bony fragments. hp0009lx5z Fragmentation of end part thumb outermost long bone doelkens 2009-01-30T09:18:09Z UMLS:C4024240 human_phenotype owl:Class HP:0030992 biolink:NamedThing Abnormal pancreatic duct morphology Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. hp0009lx5z 2017-05-13 13:51:20+00:00 The pancreas develops from dorsal and ventral buds that first appear in the fifth gestational week as outgrowths of the primitive foregut. By the seventh gestational week, expansion of the duodenum causes the ventral bud to rotate and pass behind the duodenum from right to left and fuse with the dorsal bud. The ventral bud forms the posterior head and uncinate process, whereas the dorsal bud forms the anterior head, body, and tail. Following this fusion, the ductal systems anastomose, a complicated process with a wide spectrum of possible outcomes. The portion of the ventral duct between the dorsal-ventral fusion and major papilla is termed the duct of Wirsung. The portion of the dorsal duct upstream to the dorsalventral fusion point is called the main pancreatic duct. The segment of the dorsal duct downstream to the dorsal-ventral fusion point is termed the duct of Santorini, or accessory pancreatic duct, which drains at the papilla minor [PMID:242655659]. peter owl:Class HP:0006239 biolink:NamedThing Shortening of all middle phalanges of the toes Abnormal shortening of all middle phalanges of toes. hp0009lx5z Brachymesophalangy of feet|Shortening of all the middle bones of the toes UMLS:C4021605 human_phenotype owl:Class HP:0003795 biolink:NamedThing Short middle phalanx of toe Developmental hypoplasia (shortening) of middle phalanx of toe. hp0009lx5z Short middle bones (feet)|Short middle phalanges of toes UMLS:C4021723 human_phenotype owl:Class HP:0008141 biolink:NamedThing Dislocation of toes hp0009lx5z Dislocation of toes SNOMEDCT_US:263030002|UMLS:C0434717 human_phenotype owl:Class HP:0030311 biolink:NamedThing Lower extremity joint dislocation Displacement or malalignment of one or more joints in the lower extremity (leg). hp0009lx5z Dislocated leg joints UMLS:C4022516 owl:Class HP:0500193 biolink:NamedThing Increased CSF isoleucine concentration Abnormally increased levels of isoleucine in cerebrospinal fluid. hp0009lx5z High levels of isoleucine in cerebrospinal fluid 2019-02-25 16:25:11+00:00 owl:Class HP:0002562 biolink:NamedThing Low-set nipples Placement of the nipples at a lower than normal location. hp0009lx5z Low-set nipples UMLS:C1836933 human_phenotype owl:Class HP:0030958 biolink:NamedThing Membranous ventricular septal aneurysm Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). hp0009lx5z Interventricular septum membranous part aneurysm|Aneurysm of the membranous ventricular septum 2017-03-17 20:04:30+00:00 The pars membranacea is the last portion of the septum formed in the fetus, is lo-cated between the left and right ventricles in front of the tricuspid valve, and between the left ventricle and the right atrium, behind the tricuspid valve. It lies in close proximity to the aortic and atrioventricular valves and is considered to be the weakest part of the ventricular septum. The aneurysms of the membranous portion usually measure 1 to 2 cm in all diameters and their walls are composed of fibrous tissue forming thick trabeculae when seen from the left ventricle. They can project into different portions of the right ventricle or right atrium. robinp Fyler:2346 owl:Class HP:0032417 biolink:NamedThing Periglomerular fibrosis Circumferential fibrosis in the interstitium surrounding Bowman's capsule hp0009lx5z Periglomerular fibrotic thickening 2019-02-26 14:20:31+00:00 Periglomerular fibrosis is characterized by glomeruli with open capillaries, but lamellated, frequently wrinkled, Bowman capsular basement membrane and circumferential layers of interstitial-type collagen around, within, or between the usually thickened, frequently lamellated, Bowman capsule basement membrane. peter PMID:32866505 owl:Class HP:0040108 biolink:NamedThing Morphological abnormality of the anterior semicircular canal hp0009lx5z HPO:skoehler UMLS:C4022435 owl:Class HP:0030176 biolink:NamedThing Asymmetric peripheral demyelination Loss of myelin from peripheral nerves in a pattern that differs between right and left. hp0009lx5z This feature may be observed in hereditary neuropathy with liability to pressure palsies, but also in acquired inflammatory neuropathies. UMLS:C4022598 owl:Class HP:0040308 biolink:NamedThing Male anorgasmia Inability of a male to reach orgasm. hp0009lx5z owl:Class HP:0005976 biolink:NamedThing Hyperkalemic metabolic acidosis hp0009lx5z UMLS:C1865880 human_phenotype owl:Class HP:0100933 biolink:NamedThing Sclerosis of the proximal phalanx of the 4th toe hp0009lx5z Increased bone density in the innermost bone of the 4th toe UMLS:C4021925 human_phenotype owl:Class HP:0004440 biolink:NamedThing Coronal craniosynostosis Premature closure of the coronal suture of skull. hp0009lx5z Craniosynostosis of coronal suture|Coronal suture craniosynostosis|Coronal suture synostosis peter 2008-03-18T09:59:00Z HP:0002675|HP:0004441|HP:0002739|HP:0002685 UMLS:C1856266 owl:Class HP:0012691 biolink:NamedThing Focal T2 hypointense thalamic lesion A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus. hp0009lx5z peter 2014-03-22T04:52:32Z UMLS:C4022775 human_phenotype owl:Class HP:0012696 biolink:NamedThing Abnormal thalamic MRI signal intensity A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. hp0009lx5z peter 2014-03-22T05:49:08Z UMLS:C4022770 human_phenotype owl:Class HP:0500001 biolink:NamedThing Body odor A perceived unpleasant smell given off by the body. hp0009lx5z BO|Osmidrosis|Bromhidrosis|Bromidrosis|Body odor|Body odour owl:Class HP:0002835 biolink:NamedThing Aspiration Inspiration of a foreign object into the airway. hp0009lx5z Pulmonary aspiration UMLS:C2712334|SNOMEDCT_US:413585005|SNOMEDCT_US:68052005|UMLS:C0700198 human_phenotype owl:Class HP:0010672 biolink:NamedThing Abnormality of the third metatarsal bone An abnormality of the third metatarsal bone. hp0009lx5z Abnormality of the 3rd long bone of foot peter 2010-02-26T08:22:51Z UMLS:C4023748 human_phenotype owl:Class HP:0006763 biolink:NamedThing Anal canal squamous carcinoma hp0009lx5z UMLS:C4024982 human_phenotype owl:Class HP:0010505 biolink:NamedThing Limitation of movement at ankles An abnormal limitation of the mobility of the ankle joint. hp0009lx5z peter 2009-09-19T09:47:11Z UMLS:C4023800 owl:Class HP:4000019 biolink:NamedThing Anti-BP230 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against BP230. hp0009lx5z 2021-05-02 14:28:23+00:00 Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen. robinp owl:Class HP:0010089 biolink:NamedThing Osteolytic defects of the proximal phalanx of the hallux hp0009lx5z doelkens 2009-05-29T12:17:16Z UMLS:C4024058 human_phenotype owl:Class HP:0020044 biolink:NamedThing Horizontal incomitant strabismus hp0009lx5z 2017-12-20 17:14:39+00:00 A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts horizontally. robinp owl:Class HP:0040145 biolink:NamedThing Dicarboxylic acidemia hp0009lx5z HPO:skoehler UMLS:C4022416 owl:Class HP:0003887 biolink:NamedThing Abnormality of the humeral heads hp0009lx5z Abnormal head of long bone in upper arm UMLS:C4025528 human_phenotype owl:Class HP:0100728 biolink:NamedThing Germ cell neoplasia hp0009lx5z doelkens 2011-06-06T04:46:36Z UMLS:C4021985|NCIT:C3708 human_phenotype owl:Class HP:0010785 biolink:NamedThing Gonadal neoplasm A tumor (abnormal growth of tissue) of a gonad. hp0009lx5z Gonadal neoplasia sdoelken 2010-05-04T09:44:41Z UMLS:C4021228|NCIT:C3262 human_phenotype owl:Class HP:0004484 biolink:NamedThing Craniofacial asymmetry Asymmetry of the bones of the skull and the face. hp0009lx5z Malformation of craniofacial shape|Abnormality of craniofacial shape|Uneven craniofacial structures UMLS:C4025320 human_phenotype owl:Class HP:0032817 biolink:NamedThing Neonatal focal myoclonic seizure Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally. hp0009lx5z peter owl:Class HP:0005429 biolink:NamedThing Recurrent systemic pyogenic infections Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections. hp0009lx5z UMLS:C4025196 human_phenotype owl:Class HP:0032957 biolink:NamedThing Dysmorphic hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. hp0009lx5z Acanthocyturia peter owl:Class HP:0010039 biolink:NamedThing Aplasia/Hypoplasia of the 3rd metacarpal Aplasia or Hypoplasia affecting the 3rd metacarpal. hp0009lx5z Absent/underdeveloped 3rd long bone of hand|Absent/small 3rd long bone of hand doelkens 2009-05-27T04:35:51Z UMLS:C4024089 human_phenotype owl:Class HP:0000594 biolink:NamedThing Shallow anterior chamber Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. hp0009lx5z HP:0007756 UMLS:C0423276|SNOMEDCT_US:246986004 human_phenotype owl:Class HP:0012774 biolink:NamedThing Increased upper to lower segment ratio Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. hp0009lx5z peter 2014-04-07T03:16:21Z UMLS:C1844571 human_phenotype owl:Class HP:0200050 biolink:NamedThing Bracket metacarpal epiphyses hp0009lx5z Bracket shaped end part of long bone of hand koehlers UMLS:C4021897 human_phenotype owl:Class HP:0033628 biolink:NamedThing Bowel irritability Intermittent abdominal pain with diarrhea and/or constipation. hp0009lx5z 2021-01-30 23:29:34+00:00 peter owl:Class HP:0008717 biolink:NamedThing Unilateral renal atrophy A unilateral form of atrophy of the kidney. hp0009lx5z Unilateral kidney wasting|Kidney degeneration on one side SNOMEDCT_US:424998002|UMLS:C1827184 human_phenotype owl:Class HP:0032769 biolink:NamedThing Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0004729 biolink:NamedThing Acute tubulointerstitial nephritis Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. hp0009lx5z MSH:C564356|UMLS:C1843274 human_phenotype owl:Class HP:0007001 biolink:NamedThing Loss of Purkinje cells in the cerebellar vermis hp0009lx5z UMLS:C1849146 owl:Class HP:0000243 biolink:NamedThing Trigonocephaly Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. hp0009lx5z Triangular skull shape|Triangular cranium shape|Wedge shaped skull|Wedge shaped head|Wedge shaped cranium|Triangular head shape This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. UMLS:C4280666|UMLS:C0265535|MSH:D003398|UMLS:C4280665|SNOMEDCT_US:28740008 human_phenotype owl:Class HP:0500028 biolink:NamedThing Cotton wool plaques Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes. hp0009lx5z CWPs 2017-05-30 18:52:34+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0009175 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 5th finger Patchy increase in bone density of the middle phalanx of the 5th finger. hp0009lx5z Uneven increase in bone density in the middle bone of the pinkie finger|Uneven increase in bone density in the middle bone of the pinky finger|Uneven increase in bone density in the middle bone of the little finger peter 2008-12-29T03:10:34Z UMLS:C4024555 human_phenotype owl:Class HP:0009681 biolink:NamedThing Ivory epiphysis of the distal phalanx of the thumb Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the outermost bone of the thumb doelkens 2009-01-30T09:18:09Z UMLS:C4024238 human_phenotype owl:Class HP:0100397 biolink:NamedThing Short proximal phalanx of the 5th toe Developmental hypoplasia of the proximal phalanx of fifth toe. hp0009lx5z Short proximal phalanx of the fifth toe|Short innermost bone of little toe|Hypoplastic/small proximal phalanx of the 5th toe|Short innermost bone of pinkie toe|Short innermost bone of pinky toe UMLS:C4021000 human_phenotype owl:Class HP:0010191 biolink:NamedThing Symphalangism affecting the distal phalanges of the toes hp0009lx5z Fused outermost bones of toes doelkens 2009-05-29T01:52:41Z UMLS:C4023978 human_phenotype owl:Class HP:0000538 biolink:NamedThing Pseudopapilledema Apparent optic disc swelling in the absence of increased intracranial pressure. hp0009lx5z Papilledema is disc edema secondary to increased intracranial pressure. MSH:C562401|SNOMEDCT_US:57138009|UMLS:C0155300 human_phenotype owl:Class HP:0033812 biolink:NamedThing Decreased circulating androstenedione concentration Reduced concentration of androstenedione in the blood circulation. hp0009lx5z 2021-05-09 11:56:14+00:00 peter owl:Class HP:0033811 biolink:NamedThing Abnormal circulating androstenedione concentration Any deviation from the normal concentration of androstenedione in the blood circulation. hp0009lx5z 2021-05-09 11:53:48+00:00 peter owl:Class HP:0001410 biolink:NamedThing Decreased liver function Reduced ability of the liver to perform its functions. hp0009lx5z Hepatopathy|Liver dysfunction, mild|Liver dysfunction|Decreased liver function HP:0005228|HP:0006570|HP:0004393 UMLS:C0232744|SNOMEDCT_US:77981007|MSH:D008107|UMLS:C0086565|UMLS:C3279149|SNOMEDCT_US:75183008 owl:Class HP:0040286 biolink:NamedThing Abnormal axial muscle morphology A structural anomaly of the muscles of the trunk and head. hp0009lx5z Abnormality of axial muscles ORCID:0000-0002-5316-1399 owl:Class HP:0031580 biolink:NamedThing Tessier number 8 facial cleft The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae. hp0009lx5z Tessier facial cleft number 8 2017-10-14 12:46:25+00:00 peter owl:Class HP:0100731 biolink:NamedThing Transverse facial cleft A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear. hp0009lx5z Lateral facial cleft Usually, these clefts are unilateral and do not extend beyond the anterior border of the masseter. Transverse clefts are thought to develop either due to failure of the maxillary and mandibular processes to fuse or a disruption in the processes after fusing. doelkens 2011-06-06T05:03:42Z UMLS:C4020954 human_phenotype owl:Class HP:0006424 biolink:NamedThing Elongated radius Increased length of the radius. hp0009lx5z UMLS:C4025048 human_phenotype owl:Class HP:0000503 biolink:NamedThing Tortuosity of conjunctival vessels The presence of an increased number of twists and turns of the conjunctival blood vessels. hp0009lx5z UMLS:C1855391 human_phenotype owl:Class HP:0100204 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 5th toe hp0009lx5z Cone-shaped end part of the outermost bone of the pinky toe|Cone-shaped end part of the outermost bone of the little toe|Cone-shaped end part of the outermost bone of the pinkie toe doelkens 2010-06-24T05:03:31Z UMLS:C4022217 human_phenotype owl:Class HP:0002185 biolink:NamedThing Neurofibrillary tangles Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. hp0009lx5z Paired helical filaments|Neurofibrillary tangles composed of disordered microtubules in neurons HP:0007070|HP:0003132 SNOMEDCT_US:85775002|UMLS:C0085400|MSH:D016874 human_phenotype owl:Class HP:0001452 biolink:NamedThing Autosomal dominant contiguous gene syndrome hp0009lx5z UMLS:C4025777 human_phenotype owl:Class HP:0010560 biolink:NamedThing Undulate clavicles An abnormally wavy surface or edge of the clavicles. hp0009lx5z Wavy clavicles|Wavy collarbone peter 2009-10-14T09:52:46Z UMLS:C4021253 human_phenotype owl:Class HP:0011379 biolink:NamedThing Dilated vestibule of the inner ear Dilatation of the vestibule of the inner ear. hp0009lx5z peter 2012-03-09T07:07:38Z UMLS:C4023387 human_phenotype owl:Class HP:0100178 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe. hp0009lx5z Speckled calcifications in the end part of the outermost bone of the 4th toe doelkens 2010-06-24T04:53:36Z UMLS:C4022243 human_phenotype owl:Class HP:0000815 biolink:NamedThing Hypergonadotropic hypogonadism Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. hp0009lx5z Primary hypogonadism|Hypergonadotrophic hypogonadism HP:0008679 MSH:D007006|SNOMEDCT_US:370999003|UMLS:C0948896 human_phenotype owl:Class HP:0009445 biolink:NamedThing Symphalangism of the 3rd finger Fusion of two or more bones of the 3rd finger. hp0009lx5z Fused middle finger doelkens 2009-01-14T04:09:01Z UMLS:C4024358 human_phenotype owl:Class HP:0008204 biolink:NamedThing Precocious puberty with Sertoli cell tumor hp0009lx5z Precocious puberty with Sertoli cell tumour UMLS:C1868007 human_phenotype owl:Class HP:0410243 biolink:NamedThing Abnormal circulating IgM level An abnormal deviation from normal levels of IgM immunoglobulin in blood. hp0009lx5z Abnormal IgM level in blood 2018-10-12 20:32:45+00:00 owl:Class HP:0000223 biolink:NamedThing Abnormality of taste sensation hp0009lx5z Abnormality of taste sensation UMLS:C4025879 owl:Class HP:0004411 biolink:NamedThing Deviated nasal septum Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. hp0009lx5z Deviated nasal septum|Deviated septum of nose|Crooked septum of nose|Crooked nasal septum peter 2008-03-18T09:23:00Z UMLS:C0549397|SNOMEDCT_US:126660000 human_phenotype owl:Class HP:0100148 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 3rd toe hp0009lx5z Cone-shaped end part of the middle bone of the 3rd toe doelkens 2010-06-24T10:24:13Z UMLS:C4022273 human_phenotype owl:Class HP:0004676 biolink:NamedThing Prominent supraorbital arches in adult hp0009lx5z UMLS:C1834993 human_phenotype owl:Class HP:0000336 biolink:NamedThing Prominent supraorbital ridges Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. hp0009lx5z Prominent supraorbital margins|Prominent brow|Hypertrophy of supraorbital ridge|Hypertrophy of supraorbital margins|Protruding supraorbital ridge|Prominent supraorbital ridge|Hyperplasia of supraorbital ridge|Hyperplasia of supraorbital margins|Supraorbital hyperostosis UMLS:C4280639|UMLS:C4280636|UMLS:C4280638|UMLS:C1842060|UMLS:C4280637 human_phenotype owl:Class HP:0010420 biolink:NamedThing Triangular shaped distal phalanx of the 2nd toe hp0009lx5z Triangular shaped outermost 2nd toe bone doelkens 2009-07-16T12:44:41Z UMLS:C4023836 human_phenotype owl:Class HP:0009306 biolink:NamedThing Triangular shaped distal phalanx of the 4th finger Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped outermost bone of the ring finger doelkens 2009-01-08T04:41:33Z UMLS:C4024455 human_phenotype owl:Class HP:0005264 biolink:NamedThing Abnormality of the gallbladder An abnormality of the gallbladder. hp0009lx5z Anomaly of the gallbladder|Abnormality of the gallbladder peter 2008-03-26T04:40:00Z SNOMEDCT_US:253803008|UMLS:C0266249|SNOMEDCT_US:49714001 human_phenotype owl:Class HP:0033396 biolink:NamedThing Glomerular extracapillary fibrin Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. hp0009lx5z 2021-01-09 14:19:16+00:00 Extracapillary fibrin can be associated with glomerular basement membrane (GBM) disruption. In this context, the word aextracapillary refers to abnormalities seen in Bowman's space outside of the GBM. peter owl:Class HP:0030803 biolink:NamedThing Platonychia Abnormal flat nail. hp0009lx5z UMLS:C1853986 owl:Class HP:0025048 biolink:NamedThing Reduced brain choline level by MRS An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z Reduced brain choline level by magnetic resonance spectroscopy 2016-09-25 16:49:14+00:00 HPO:probinson owl:Class HP:0025047 biolink:NamedThing Abnormal brain choline level by MRS A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z Abnormal brain choline level by magnetic resonance spectroscopy 2016-09-25 16:48:23+00:00 HPO:probinson owl:Class HP:0008829 biolink:NamedThing Delayed femoral head ossification Delayed ossification of the femoral head. hp0009lx5z Delayed maturation of the head of the thigh bone UMLS:C1846446|UMLS:C4280410 human_phenotype owl:Class HP:0010883 biolink:NamedThing Aortic valve atresia A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. hp0009lx5z Aortic atresia peter 2010-09-20T11:09:46Z SNOMEDCT_US:51442005|UMLS:C0265843 human_phenotype owl:Class HP:0410259 biolink:NamedThing Hepatopulmonary fusion Fusion of the liver with the lung. hp0009lx5z Hepatic pulmonary fusion 2018-10-19 21:35:39+00:00 owl:Class HP:0100357 biolink:NamedThing Contracture of the metatarsophalangeal joint of the 3rd toe The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively. hp0009lx5z UMLS:C4022128 human_phenotype owl:Class HP:0001869 biolink:NamedThing Deep plantar creases The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. hp0009lx5z Deep wrinkles in soles of feet UMLS:C1857953 human_phenotype owl:Class HP:0009020 biolink:NamedThing Exercise-induced muscle fatigue An abnormally increased tendency towards muscle fatigue induced by physical exercise. hp0009lx5z UMLS:C1855580 human_phenotype owl:Class HP:0003750 biolink:NamedThing Increased muscle fatiguability An abnormal, increased fatiguability of the musculature. hp0009lx5z Muscle fatigue UMLS:C0242979|SNOMEDCT_US:80449002|UMLS:C4025573|MSH:D018763 human_phenotype owl:Class HP:0020034 biolink:NamedThing Diffuse A spatial pattern that is spread out, i.e., not localized. hp0009lx5z UMLS:C0205219|SNOMEDCT_US:19648000 owl:Class HP:0008200 biolink:NamedThing Primary hyperparathyroidism A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. hp0009lx5z HP:0008254 UMLS:C0221002|SNOMEDCT_US:36348003|MSH:D049950 human_phenotype owl:Class HP:0010717 biolink:NamedThing Osseous syndactyly of toes Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". hp0009lx5z Osseous syndactyly of the toes sdoelken 2010-03-26T05:31:50Z SNOMEDCT_US:32113001|SNOMEDCT_US:38859008|UMLS:C0158738 human_phenotype owl:Class HP:0011570 biolink:NamedThing Congenital mitral stenosis Mitral stenosis with congenital onset. hp0009lx5z peter 2012-04-08T08:46:46Z UMLS:C0158618|SNOMEDCT_US:82458004 owl:Class HP:0001718 biolink:NamedThing Mitral stenosis An abnormal narrowing of the orifice of the mitral valve. hp0009lx5z Mitral valve stenosis HP:0005163 EPCC:06.02.92|MSH:D008946|ICD-10:Q23.2|UMLS:C0026269|SNOMEDCT_US:79619009|Fyler:1511 owl:Class HP:0033829 biolink:NamedThing Posterior mediastinal mass A type of inferior mediastinal mass that is located behind the pericardium. hp0009lx5z 2021-05-09 12:30:13+00:00 peter owl:Class HP:0030911 biolink:NamedThing Bifid clitoris Two clitorides located side by side. hp0009lx5z The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as Duplicated clitoris. A bifid clitoris is almost invariably accompanied by Epispadias, which should be coded separately. owl:Class HP:0005068 biolink:NamedThing Absent styloid process of ulna hp0009lx5z UMLS:C4025254 human_phenotype owl:Class HP:3000041 biolink:NamedThing Abnormality of external carotid artery An abnormality of an external carotid artery. hp0009lx5z Disorder of carotid artery|Abnormality of carotid artery vasilevs 2015-08-07T00:36:24Z UMLS:C4073249 human_phenotype owl:Class HP:0009060 biolink:NamedThing Scapular muscle atrophy Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. hp0009lx5z Need to add new UBERON term for scapula muscle UMLS:C3805969 human_phenotype owl:Class HP:0001465 biolink:NamedThing Amyotrophy involving the shoulder musculature hp0009lx5z Wasting of shoulder muscles|Shoulder muscle degeneration peter 2008-04-07T10:50:00Z UMLS:C4025771 human_phenotype owl:Class HP:0002557 biolink:NamedThing Hypoplastic nipples Underdevelopment of the nipple. hp0009lx5z Small nipples|Nipple hypoplasia HP:0003188|HP:0006652|HP:0002560 SNOMEDCT_US:268290005|UMLS:C0432355 human_phenotype owl:Class HP:0002234 biolink:NamedThing Early balding Loss of scalp hair at an earlier than normal age. hp0009lx5z Early balding UMLS:C4025718 human_phenotype owl:Class HP:0100201 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 4th toe hp0009lx5z Triangular end part of the innermost bone of the 4th toe doelkens 2010-06-24T04:54:59Z UMLS:C4022220 human_phenotype owl:Class HP:0008188 biolink:NamedThing Thyroid dysgenesis hp0009lx5z Thyroid dysplasia MSH:D050033|UMLS:C1563716 human_phenotype owl:Class HP:0008043 biolink:NamedThing Retinal arteriolar constriction Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. hp0009lx5z Retinal arteriolar narrowing|Narrow retinal arterioles|Constricted retinal arterioles Usually after the first branch, the retinal arteries contain no elastic fibers and the term retinal arteriole is more appropriate. The main changes seen in diseases such as hypertension affect mainly the retinal arterioles rather than the retinal artery. HP:0007952|HP:0008510 UMLS:C2176208 human_phenotype owl:Class HP:0031936 biolink:NamedThing Delayed ability to walk A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. hp0009lx5z Delayed walking 2018-07-04 21:00:51+00:00 peter owl:Class HP:0002194 biolink:NamedThing Delayed gross motor development A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. hp0009lx5z Limited gross motor development|Delayed motor skills|Delayed gross motor skills|Developmental delay, gross motor|Gross motor delay HP:0006905|HP:0007046|HP:0008973 UMLS:C1837658|SNOMEDCT_US:430099007 owl:Class HP:0100175 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 4th toe hp0009lx5z Increased bone density of end part of the outermost bone of the 4th toe doelkens 2010-06-24T04:53:36Z UMLS:C4022246 human_phenotype owl:Class HP:0002380 biolink:NamedThing Fasciculations Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. hp0009lx5z Muscle twitch|Muscle fasciculation|Fasciculation This finding can be visible clinically and can be demonstrated by electromyography (EMG). HP:0002468|HP:0007092 UMLS:C0015644|MSH:D005207|SNOMEDCT_US:82470000 human_phenotype owl:Class HP:0040210 biolink:NamedThing Abnormal circulating biopterin concentration A deviation from the normal concentration of biopterin in the blood circulation. hp0009lx5z HPO:skoehler UMLS:C4073158 owl:Class HP:0033983 biolink:NamedThing Decreased circulating apolipoprotein C-II concentration Reduced concentration of apolipoprotein C-II in the blood circulation. hp0009lx5z Decreased plasma apolipoprotein C-II 2021-07-15 11:42:48+00:00 peter owl:Class HP:0033459 biolink:NamedThing Decreased circulating apolipoprotein concentration Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein). hp0009lx5z Decreased apolipoprotein level 2021-01-09 22:14:54+00:00 peter owl:Class HP:0001552 biolink:NamedThing Barrel-shaped chest A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. hp0009lx5z Barrel chest|Barrel-shaped chest Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease. HP:0000781|HP:0001553 UMLS:C0264172|SNOMEDCT_US:24228002 human_phenotype owl:Class HP:0007464 biolink:NamedThing Sparse facial hair Reduced number or density of facial hair. hp0009lx5z Sparse facial hair UMLS:C2017869 human_phenotype owl:Class HP:0009949 biolink:NamedThing Duplication of the middle phalanx of the 2nd finger Partial or complete duplication of the middle phalanx of index finger. hp0009lx5z Partial/complete duplication of the middle bones of the index finger|Partial/complete duplication of the middle phalanx of the 2nd finger doelkens 2009-05-15T01:58:58Z UMLS:C4021366 human_phenotype owl:Class HP:0009945 biolink:NamedThing Duplication of phalanx of 2nd finger This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. hp0009lx5z Partial/complete duplication of phalanges of the 2nd finger|Duplication of the bones of index finger doelkens 2009-05-15T01:00:37Z UMLS:C4021369 human_phenotype owl:Class HP:0010848 biolink:NamedThing EEG with spike-wave complexes (2.5-3.5 Hz) The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG). hp0009lx5z peter 2010-07-10T08:21:13Z UMLS:C4023685 human_phenotype owl:Class HP:0031998 biolink:NamedThing Late inspiratory crackles Crackles that appear any time after the beginning of inspiration and last till the end of inspiration. hp0009lx5z 2018-07-15 21:49:08+00:00 Late inspiratory crackles may be observed, for example, in diffuse parenchymal lung disease (DPLD). Crackles are commonly seen in patients with IPF/usual interstitial pneumonia (UIP), asbestosis, and desquamative interstitial pneumonia (DIP). peter owl:Class HP:0012233 biolink:NamedThing Intramuscular hematoma Blood clot formed within muscle tissue following leakage of blood into the tissue. hp0009lx5z Intramuscular haemorrhage|IM hematoma|Intramuscular haematoma|Intramuscular hematomas|Intramuscular hemorrhage peter 2013-03-31T09:38:57Z SNOMEDCT_US:262969000|UMLS:C0240412 human_phenotype owl:Class HP:0001196 biolink:NamedThing Short umbilical cord Decreased length of the umbilical cord. hp0009lx5z Short umbilical cord UMLS:C0266786|SNOMEDCT_US:59795007 human_phenotype owl:Class HP:0030538 biolink:NamedThing Unaided visual acuity 0.3 LogMAR hp0009lx5z UMLS:C4073012 owl:Class HP:0001361 biolink:NamedThing Nystagmus-induced head nodding Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. hp0009lx5z UMLS:C4025788 human_phenotype owl:Class HP:0041213 biolink:NamedThing Fractured proximal phalanx of digit 4 A partial or complete breakage of the proximal phalanx of digit 4. hp0009lx5z bone proximal phalanx of digit 4 owl:Class HP:0032189 biolink:NamedThing Cellular hypersensitivity to diepoxybutane An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. hp0009lx5z 2019-01-15 11:20:48+00:00 Cellular hypersensitivity to diepoxybutane is used in diagnostic criteria for Fanconi Anemia. peter owl:Class HP:0011723 biolink:NamedThing Congenital malformation of the right heart Defect or defects of the morphogenesis of the right heart identifiable at birth. hp0009lx5z peter 2012-04-11T08:56:19Z UMLS:C4023219 human_phenotype owl:Class HP:0010309 biolink:NamedThing Bifid sternum The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. hp0009lx5z Sternal cleft Various degrees of bifid sternum may occur, varying from an enlarged suprasternal notch to complete separation of the two halves of the sternum. Ectopia cordis may or may not accompany this defect in its more severe form. peter 2009-07-12T02:23:18Z UMLS:C0265696|SNOMEDCT_US:54008006 owl:Class HP:0100502 biolink:NamedThing Vitamin B12 deficiency hp0009lx5z Vitamin B12 deficiency doelkens 2010-12-17T06:00:43Z UMLS:C0042847|SNOMEDCT_US:190634004|MSH:D014806 human_phenotype owl:Class HP:0006311 biolink:NamedThing Generalized microdontia A generalized form of microdontia. hp0009lx5z Decreased size of all teeth|Decreased tooth mass|Hypotrophy of all teeth|Tooth mass insufficiency|Decreased width of all teeth|Generalised microdontia UMLS:C4025065 human_phenotype owl:Class HP:0001089 biolink:NamedThing Iris atrophy Loss of iris tissue (atrophy) hp0009lx5z Iris degeneration SNOMEDCT_US:95709007|UMLS:C0423319 human_phenotype owl:Class HP:0007514 biolink:NamedThing Edema of the dorsum of hands An abnormal accumulation of fluid beneath the skin on the back of the hands. hp0009lx5z Edema of dorsum of hands|Oedema of the dorsum of hands|Oedema of dorsum of hands HP:0007528 SNOMEDCT_US:443710002|UMLS:C2751873|UMLS:C2732374|MEDDRA:10058204 human_phenotype owl:Class HP:0032088 biolink:NamedThing Aortic smooth muscle cell disorganization Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells. hp0009lx5z Aortic smooth muscle cell disorganisation 2018-10-14 15:04:49+00:00 peter owl:Class HP:0005716 biolink:NamedThing Lethal skeletal dysplasia hp0009lx5z Lethal dwarfism identifiable at birth HP:0008898 UMLS:C4021626 human_phenotype owl:Class HP:3000022 biolink:NamedThing Abnormality of cartilage of external ear An abnormality of a cartilage of external ear. hp0009lx5z vasilevs 2015-08-07T00:15:54Z UMLS:C4073231 human_phenotype owl:Class HP:0000742 biolink:NamedThing Self-mutilation hp0009lx5z Self mutilation|Deliberate self-harm|Self-mutilation SNOMEDCT_US:130968006|MSH:D012652|UMLS:C0036601 human_phenotype owl:Class HP:0100550 biolink:NamedThing Tendon rupture Breakage (tear) of a tendon. hp0009lx5z Ruptured tendon|Tendon/muscle rupture|Rupture of tendons|Tendon rupture Tendon rupture is usually painful,and accompanied by swelling, inability to move, and bunching up of the muscle normally attached to the tendon. doelkens 2010-12-21T02:58:13Z SNOMEDCT_US:415749005|UMLS:C0151937 human_phenotype owl:Class HP:0007521 biolink:NamedThing Irregular hyperpigmentation of back hp0009lx5z UMLS:C4024854 human_phenotype owl:Class HP:0002879 biolink:NamedThing Anisospondyly Abnormally increased variability of the size of the vertebral bodies. hp0009lx5z UMLS:C1857101 human_phenotype owl:Class HP:0020163 biolink:NamedThing Cilioretinal artery occlusion Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers. hp0009lx5z robinp 2019-07-06 21:01:57+00:00 owl:Class HP:0009624 biolink:NamedThing Contractures of the carpometacarpal joint of the thumb Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint. hp0009lx5z doelkens 2009-01-29T04:52:18Z UMLS:C4024269 human_phenotype owl:Class HP:0005326 biolink:NamedThing Hypoplastic philtrum Underdevelopment of the philtrum. hp0009lx5z Small philtrum HP:0005331 UMLS:C1856886 human_phenotype owl:Class HP:0033716 biolink:NamedThing EEG with frontal epileptiform discharges Focal epileptiform EEG discharges recorded in the frontal region. hp0009lx5z 2021-04-07 12:41:46+00:00 peter owl:Class HP:0004780 biolink:NamedThing Elbow hypertrichosis Excessive, increased hair growth located in the elbow region. hp0009lx5z Hairy elbow|Hairy elbow syndrome|Hypertrichosis cubiti|Pilosity of elbow UMLS:C4025295 human_phenotype owl:Class HP:0008071 biolink:NamedThing Maternal hypertension Increased blood pressure during a pregnancy. hp0009lx5z SNOMEDCT_US:288250001|UMLS:C0565599 human_phenotype owl:Class HP:0000014 biolink:NamedThing Abnormality of the bladder An abnormality of the urinary bladder. hp0009lx5z UMLS:C0149632 human_phenotype owl:Class HP:0002961 biolink:NamedThing Dysgammaglobulinemia Selective deficiency of one or more, but not all, classes of immunoglobulins. hp0009lx5z MSH:D004406|UMLS:C0013374|SNOMEDCT_US:123782009 human_phenotype owl:Class HP:0011791 biolink:NamedThing Inactivating thyroid-stimulating hormone receptor defect Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect. hp0009lx5z Inactivating TSHR defect peter 2012-04-22T06:35:14Z UMLS:C4023187 human_phenotype owl:Class HP:0031260 biolink:NamedThing Triangular tibia A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally. hp0009lx5z 2017-08-12 16:09:34+00:00 peter owl:Class HP:0030915 biolink:NamedThing Cerebellar edema Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum. hp0009lx5z Oedema of the cerebellum|Cerebellar oedema|Edema of the cerebellum Cerebellar edama can manifest on magnetic resonance imaging as hyperintense T2 and FLAIR signals, which do not show restricted diffusion. HPO:probinson owl:Class HP:0030277 biolink:NamedThing Abnormal vertebral pedicle morphology Abnormal morphology of a vertebral pedical. hp0009lx5z The pedicle is part of the lumbar vertebrae - each lumbar vertebra consists of a vertebral body and a vertebral arch. The vertebral arch, consisting of a pair of pedicles and a pair of laminae, encloses the vertebral foramen. UMLS:C4022541 owl:Class HP:0000607 biolink:NamedThing Periorbital wrinkles hp0009lx5z Periorbital rhytids|Excess periorbital skin wrinkling|Wrinkles around the eyes|Periorbital wrinkling UMLS:C1844605 human_phenotype owl:Class HP:0100336 biolink:NamedThing Bilateral cleft lip A non-midline cleft of the upper lip on the left and right sides. hp0009lx5z Right and left cleft lip|Bilateral cheiloschisis|Both sided cleft lip doelkens 2010-10-13T04:13:10Z SNOMEDCT_US:304068004|UMLS:C0392005 human_phenotype owl:Class HP:0100136 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 3rd toe hp0009lx5z Bracket shaped end part of the outermost bone of the 3rd toe doelkens 2010-06-24T10:23:44Z UMLS:C4022285 human_phenotype owl:Class HP:0040213 biolink:NamedThing Hypopnea Hypopnea is referring to breathing that is abnormally shallow. hp0009lx5z Not to be confused with Hypoventilation. Hypopnea is distinct from apnea in which there is no breathing. UMLS:C0235546|SNOMEDCT_US:386614005 owl:Class HP:0011801 biolink:NamedThing Enlargement of parotid gland Increased size of the parotid gland. hp0009lx5z Hypertrophy of parotid gland|Hyperplasia of parotid gland|Increased size of parotid gland peter 2012-04-24T07:59:05Z UMLS:C0341047|SNOMEDCT_US:29748005 human_phenotype owl:Class HP:0000197 biolink:NamedThing Abnormal parotid gland morphology Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. hp0009lx5z Anomaly of the parotid gland|Abnormality of parotid gland UMLS:C4025880 human_phenotype owl:Class HP:0003694 biolink:NamedThing Late-onset proximal muscle weakness Lack of strength of the proximal musculature occurring late in the clinical course. hp0009lx5z UMLS:C4025578 human_phenotype owl:Class HP:0003701 biolink:NamedThing Proximal muscle weakness A lack of strength of the proximal muscles. hp0009lx5z Proximal limb muscle weakness|Weakness in muscles of upper arms and upper legs|Muscle weakness, proximal|Proximal neurogenic muscle weakness|Proximal limb weakness Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. HP:0009075|HP:0007195|HP:0008950|HP:0008961|HP:0009033|HP:0003475|HP:0003432|HP:0008975 UMLS:C1838869|UMLS:C0221629|SNOMEDCT_US:249939004 human_phenotype owl:Class HP:0100610 biolink:NamedThing Maternal hyperphenylalaninemia A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. hp0009lx5z High blood phenylalanine level in mother doelkens 2010-12-27T06:17:13Z UMLS:C4022014 human_phenotype owl:Class HP:0025474 biolink:NamedThing Erythematous plaque A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. hp0009lx5z Violaceous plaque 2017-05-14 12:38:07+00:00 HPO:probinson owl:Class HP:0011263 biolink:NamedThing Forward facing earlobe Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear. hp0009lx5z Lobe, forward facing|Forward facing earlobe The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent. The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe. peter 2011-12-18T06:50:34Z UMLS:C4021177 human_phenotype owl:Class HP:0100005 biolink:NamedThing Testicular mesothelioma A Malignant mesothelioma of the testis. hp0009lx5z Testicular mesothelioma originates from cells of the tunica vaginalis (the thin layer of mesothelium surrounding the testicles). Testicular mesothelioma is the rarest form of mesothelioma. doelkens 2010-05-11T04:16:23Z NCIT:C3234|UMLS:C4022391 human_phenotype owl:Class HP:0032890 biolink:NamedThing Focal impaired awareness sensory seizure with somatosensory features A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0005048 biolink:NamedThing Synostosis of carpal bones hp0009lx5z Fusion of wrist bones UMLS:C1836193 human_phenotype owl:Class HP:0040258 biolink:NamedThing Hypoplastic nasopharyngeal adenoids Underdevelopment of the nasopharyngeal adenoids. hp0009lx5z Underdeveloped nasopharyngeal adenoids UMLS:C4280691 owl:Class HP:0000230 biolink:NamedThing Gingivitis Inflammation of the gingiva. hp0009lx5z Red and swollen gums|Inflamed gums|Gingival inflammation UMLS:C0017574|SNOMEDCT_US:66383009|MSH:D005891 human_phenotype owl:Class HP:0004245 biolink:NamedThing Comma-shaped scaphoid hp0009lx5z UMLS:C4025395 human_phenotype owl:Class HP:0031614 biolink:NamedThing Inferior retinal coloboma A notch or cleft of the lower part of the retina. hp0009lx5z 2017-12-16 12:58:27+00:00 peter owl:Class HP:0000480 biolink:NamedThing Retinal coloboma A notch or cleft of the retina. hp0009lx5z Hole in the back of the eye HP:0007808 UMLS:C3540764 owl:Class HP:0001386 biolink:NamedThing Joint swelling hp0009lx5z Joint swelling SNOMEDCT_US:271771009|UMLS:C0152031 human_phenotype owl:Class HP:0006555 biolink:NamedThing Diffuse hepatic steatosis A diffuse form of hepatic steatosis. hp0009lx5z Hepatic steatosis, diffuse UMLS:C1849686 human_phenotype owl:Class HP:0032594 biolink:NamedThing Renal tubular basement membrane denudation Naked basement membranes without tubular epithelium. hp0009lx5z Denuded tubular basement membrane peter owl:Class HP:0009677 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the thumb A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. hp0009lx5z Cone-shaped terminal thumb phalanx epiphysis|Cone-shaped end part of thumb outermost long bone doelkens 2009-01-30T09:18:09Z HP:0004091 UMLS:C4021409 human_phenotype owl:Class HP:0430007 biolink:NamedThing Symblepharon A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. hp0009lx5z Eyelid adhesion to globe of eye|Eyelid stuck to eyeball UMLS:C0152454|SNOMEDCT_US:90216006 owl:Class HP:0010965 biolink:NamedThing Abnormal circulating phytanic acid concentration Any deviation from the normal concentration of phytanic acid in the blood circulation. hp0009lx5z Abnormal circulating phytanic acid level Phytanic acid is a branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15. peter 2011-01-27T08:07:48Z UMLS:C4023623 owl:Class HP:0010436 biolink:NamedThing Aplasia of the proximal phalanx of the 2nd toe hp0009lx5z Absent innermost 2nd toe bone doelkens 2009-07-16T04:29:25Z UMLS:C4023827 human_phenotype owl:Class HP:0003634 biolink:NamedThing Amyoplasia Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. hp0009lx5z Absent muscles since birth|Congenital absence of muscles HP:0008990 SNOMEDCT_US:205532005|UMLS:C0432185 human_phenotype owl:Class HP:0002493 biolink:NamedThing Upper motor neuron dysfunction A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. hp0009lx5z Corticospinal tract dysfunction|Pyramidal tract dysfunction A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response). UMLS:C1839042|UMLS:C1504405 owl:Class HP:0010688 biolink:NamedThing Low placental alkaline phosphatase An abnormally reduced level of alkaline phosphatase, placental type in the blood. hp0009lx5z Low placental ALP doelkens 2010-03-05T11:13:28Z UMLS:C4023737 human_phenotype owl:Class HP:0009914 biolink:NamedThing Cyclopia Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. hp0009lx5z Single central eye|Cyclops eye peter 2009-05-01T03:52:15Z MSH:C562573|UMLS:C0266667|SNOMEDCT_US:205798005 human_phenotype owl:Class HP:0100886 biolink:NamedThing Abnormality of globe location An abnormality in the placement of the ocular globe (eyeball). hp0009lx5z Abnormality of globe position|Abnormality of eyeball position|Abnormality of eyeball location doelkens 2011-12-13T04:25:29Z UMLS:C4021946 human_phenotype owl:Class HP:0030055 biolink:NamedThing Hyperconvex toenail When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity. hp0009lx5z UMLS:C4022661 owl:Class HP:0032152 biolink:NamedThing Keratosis pilaris An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. hp0009lx5z Carpet tack sign|Lichen pilaris|Follicular keratosis|Chicken skin|Hyperkeratosis pilaris|Follicular plugging|Follicular keratotic plug 2018-12-02 13:20:11+00:00 Keratosis pilaris is characterized by abnormal keratinisation of the lining of the follicular infundibulum (the upper portion of the hair follicle). Keratin (i.e., scale) fills the follicle instead of exfoliating. Clinically, the keratotic plugs have been referred to as the carpet tack sign since they project up similar to carpet tacks. peter HP:0040180 owl:Class HP:0025037 biolink:NamedThing Hypothalamic gliosis Focal proliferation of glial cells in the hypothalamus. hp0009lx5z 2016-09-20 10:59:06+00:00 HPO:probinson owl:Class HP:0031673 biolink:NamedThing Orthodromic atrioventricular reentrant tachycardia A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction. hp0009lx5z Orthodromic AVRT 2017-12-17 16:55:02+00:00 peter owl:Class HP:0030018 biolink:NamedThing Decreased female libido Dminished sexual desire in female. hp0009lx5z Decreased female sex drive UMLS:C4022676 owl:Class HP:0046504 biolink:NamedThing Decreased libido Decreased sexual desire. hp0009lx5z owl:Class HP:0030022 biolink:NamedThing Question mark ear Cleft between the helix and the lobe. hp0009lx5z Cosman ear|Question mark ear|Constricted ear|Question mark ears Relatively few cases have been reported. Variation from a small notch to complete separation of the helix from the lobe is noted, there may be unilateral or bilateral involvement. The lobe is relatively laterally recessed compared to the upper portion of the ear and the scapha may be absent. This is distinct from a Cleft helix where the cleft is within the helix. UMLS:C3888103 owl:Class HP:0012810 biolink:NamedThing Wide nasal base Increased distance between the attachments of the alae nasi to the face. hp0009lx5z Broad base of nose|Broad nasal base|Wide nasal base|Increased width of base of nose|Wide base of nose|Increased width of nasal base There is a marked difference in width of the nasal base depending on ethnic background. hecht 2014-05-25T05:59:12Z UMLS:C1849667 human_phenotype owl:Class HP:0100492 biolink:NamedThing Joint contractures involving the joints of the feet Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. hp0009lx5z doelkens 2010-12-14T11:03:38Z UMLS:C4022042 human_phenotype owl:Class HP:0025297 biolink:NamedThing Prolonged Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). hp0009lx5z 2016-12-18 16:26:30+00:00 HPO:probinson owl:Class HP:0040198 biolink:NamedThing Non-medullary thyroid carcinoma hp0009lx5z Nonmedullary thyroid carcinoma|Thyroid cancer, nonmedullary MSH:C536915|UMLS:C3501843 owl:Class HP:0002890 biolink:NamedThing Thyroid carcinoma The presence of a carcinoma of the thyroid gland. hp0009lx5z NCIT:C2916|UMLS:C0549473|MSH:D013964 human_phenotype owl:Class HP:0009241 biolink:NamedThing Bullet-shaped distal phalanx of the 5th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected. hp0009lx5z Bullet-shaped outermost pinkie finger bone|Bullet-shaped outermost pinky finger bone|Bullet-shaped outermost little finger bone doelkens 2009-01-05T07:25:50Z UMLS:C4024505 human_phenotype owl:Class HP:0031681 biolink:NamedThing Type III atherosclerotic lesion Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions. hp0009lx5z 2017-12-17 17:33:15+00:00 peter owl:Class HP:0040147 biolink:NamedThing L-2-hydroxyglutaric acidemia hp0009lx5z HPO:skoehler UMLS:C3888081 owl:Class HP:0030864 biolink:NamedThing Intercostal retractions A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress. hp0009lx5z Chest retractions SNOMEDCT_US:6442005|UMLS:C0425470 owl:Class HP:0002098 biolink:NamedThing Respiratory distress Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. hp0009lx5z Breathing difficulties|Labored breathing|Respiratory difficulties HP:0002880 SNOMEDCT_US:230145002|MSH:D004417|SNOMEDCT_US:271825005|UMLS:C0476273|UMLS:C0013404|SNOMEDCT_US:267036007 owl:Class HP:0005512 biolink:NamedThing Impaired neutrophil killing of staphylococci A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph. hp0009lx5z UMLS:C4025188 human_phenotype owl:Class HP:0031819 biolink:NamedThing Increased waist to hip ratio Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. hp0009lx5z Increased WHR|Increased waist-hip ratio|Increased waist-to-hip ratio 2018-05-01 02:08:12+00:00 peter owl:Class HP:0031818 biolink:NamedThing Abnormal waist to hip ratio A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement. hp0009lx5z 2018-05-01 02:06:09+00:00 peter owl:Class HP:0003950 biolink:NamedThing Flared elbow metaphyses hp0009lx5z Flared wide portion of elbow bone UMLS:C4025484 human_phenotype owl:Class HP:0025551 biolink:NamedThing Optic nerve misrouting Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). hp0009lx5z Visual pathway misrouting|Optic pathway misrouting 2017-07-09 13:10:15+00:00 HPO:probinson owl:Class HP:0007010 biolink:NamedThing Poor fine motor coordination An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. hp0009lx5z Fine motor disability|Fine motor skill dysfunction|Fine motor impairment|Impaired fine motor skills UMLS:C1867864 human_phenotype owl:Class HP:0025591 biolink:NamedThing Abnormal superior oblique muscle physiology A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve. hp0009lx5z 2018-01-13 20:12:43+00:00 A neurological examination includes assessment of the trochlear nerve (CN IV) which innervates the superior oblique muscle. The test for CN IV function is for the patient to depress and adduct the eye (ie. to look down and in). This movement is impaired in the presence of a trochlear nerve palsy. HPO:probinson owl:Class HP:0030880 biolink:NamedThing Raynaud phenomenon hp0009lx5z Raynaud's phenomenon|Raynaud disease Excessively reduced blood flow in response to cold or emotional stress, causing discolouration of the fingers, toes. SNOMEDCT_US:266261006|MSH:D011928|UMLS:C0034735 owl:Class HP:0012550 biolink:NamedThing Colonic varices The presence of varices (enlarged and convoluted blood vessels) in the colon. hp0009lx5z Colonic varices are a rare cause of lower gastrointestinal bleeding, most commonly associated with portal hypertension nd more rarely with congestive heart failure, mesenteric vein thrombosis, pancreatitis with splenic vein thrombosis and adhesions, and mesenteric vein compression. Colonic varices are usually located in the rectosigmoid region and the cecum. peter 2014-01-01T03:54:41Z UMLS:C4022853 human_phenotype owl:Class HP:0012509 biolink:NamedThing Reduced thyroxin-binding globulin An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. hp0009lx5z Thyroxin-binding globulin is known as serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), Entrez Gene ID 6906. Individuals with TBG deficiency are euthyroid. peter 2013-12-08T08:25:46Z UMLS:C4022872 human_phenotype owl:Class HP:3000069 biolink:NamedThing Abnormality of lateral rectus extra-ocular muscle An abnormality of a lateral rectus extra-ocular muscle. hp0009lx5z vasilevs 2015-08-07T03:38:44Z UMLS:C4073276 human_phenotype owl:Class HP:0003363 biolink:NamedThing Abdominal situs inversus A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen. hp0009lx5z Situs inversus visceralis|Situs inversus viscerum UMLS:C0037221|SNOMEDCT_US:43876007|Fyler:3816|MSH:D012857|SNOMEDCT_US:27317008 owl:Class HP:0030557 biolink:NamedThing Best corrected visual acuity 0.4 LogMAR hp0009lx5z UMLS:C4073030 owl:Class HP:0005505 biolink:NamedThing Refractory anemia hp0009lx5z Refractory anaemia SNOMEDCT_US:128845005|UMLS:C0002893|MSH:D000753 human_phenotype owl:Class HP:0007510 biolink:NamedThing Focal dermal aplasia/hypoplasia hp0009lx5z UMLS:C1834069 human_phenotype owl:Class HP:0008065 biolink:NamedThing Aplasia/Hypoplasia of the skin hp0009lx5z Absent/underdeveloped skin|Absent/small skin peter 2008-04-02T03:44:00Z UMLS:C4024737 human_phenotype owl:Class HP:0005389 biolink:NamedThing Depletion of components of the alternative complement pathway An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. hp0009lx5z UMLS:C1969220 human_phenotype owl:Class HP:0030646 biolink:NamedThing Peripheral hp0009lx5z SNOMEDCT_US:14414005|UMLS:C0205100 owl:Class HP:0030693 biolink:NamedThing Supratentorial neoplasm A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli. hp0009lx5z Pineal parenchymal tumor|Pineal parenchymal tumour This represents a group of related tumours ranging from the relatively benign to the highly malignant. MSH:D015173|NCIT:C3328|SNOMEDCT_US:359619007|SNOMEDCT_US:127026004|UMLS:C0038874|SNOMEDCT_US:47598005|UMLS:C0031941|MSH:D010871 owl:Class HP:0030692 biolink:NamedThing Brain neoplasm A benign or malignant neoplasm that arises from or metastasizes to the brain. hp0009lx5z Brain tumour|Brain tumor SNOMEDCT_US:254935002|SNOMEDCT_US:126952004|MSH:D001932|UMLS:C0006118|NCIT:C2907 owl:Class HP:0010116 biolink:NamedThing Enlarged epiphyses of the hallux hp0009lx5z Enlarged end part of the big toe bone doelkens 2009-05-29T01:16:38Z UMLS:C4024043 human_phenotype owl:Class HP:0003904 biolink:NamedThing Wide epiphyses of the upper limbs hp0009lx5z Broad epiphyses of the upper limbs|Wide end part of upper limb bones UMLS:C4021709 human_phenotype owl:Class HP:0030985 biolink:NamedThing Decreased serum bile concentration A reduction in the concentration of bile acid in the blood. hp0009lx5z 2017-05-13 13:02:06+00:00 peter owl:Class HP:0000287 biolink:NamedThing Increased facial adipose tissue An increased amount of subcutaneous fat tissue in the face. hp0009lx5z Facial fat hyperplasia|Hyperplasia of facial adipose tissue|Increased amount of facial adipose tissue|Increased amount of facial fat|Facial fat hypertrophy|Increased volume of facial adipose tissue|Hypertrophy of facial adipose tissue UMLS:C4025868|UMLS:C4280649|UMLS:C4280650 human_phenotype owl:Class HP:0003643 biolink:NamedThing Sulfite oxidase deficiency Abnormally reduced sulfite oxidase level. hp0009lx5z Sulfite oxidase is responsible for the oxidation of sulfite to sulfate and is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids. SNOMEDCT_US:367368009|UMLS:C0268624|MSH:C538141 human_phenotype owl:Class HP:0020123 biolink:NamedThing Tympanosclerosis A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear. hp0009lx5z Tympanic calcification Plaques related to tympanosclerosis do not form spherical lesions and are typically within the drum substance itself which is normally easily discerned when using the binocular view of a microscope rather than the monocular, two-dimensional view of a hand-held otoscope. Such plaques can alter compliance of the tympanic membrane and can lead to sclerotic fixation of the ossicles, both of which can result in a mild conductive hearing loss. Histologically, lesions vary slightly according to their stage of development showing differing amounts of increased fibroblasts, abnormal fibers, areas of hyalinization, and areas of calcification into an osseous-like matrix. Most patients require no treatment. robinp 2019-07-02 20:36:06+00:00 owl:Class HP:0007158 biolink:NamedThing Progressive extrapyramidal muscular rigidity A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). hp0009lx5z Progressive extrapyramidal rigidity UMLS:C4021580 human_phenotype owl:Class HP:0030233 biolink:NamedThing Bethlem sign Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures. hp0009lx5z Bethlem phenomenon UMLS:C4021042 owl:Class HP:0000030 biolink:NamedThing Testicular gonadoblastoma The presence of a gonadoblastoma of the testis. hp0009lx5z Gonadoblastoma, male NCIT:C3754|UMLS:C1515283 human_phenotype owl:Class HP:0010680 biolink:NamedThing Elevated alkaline phosphatase of renal origin An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. hp0009lx5z Elevated ALP of renal origin doelkens 2010-03-05T11:09:59Z UMLS:C4023745 owl:Class HP:0030895 biolink:NamedThing Abnormal gastrointestinal motility An anomaly of the muscular contractions that propel food though the gastrointestinal tract. hp0009lx5z Abnormal GI motility owl:Class HP:0007626 biolink:NamedThing Mandibular osteomyelitis Osteomyelitis of the lower jaw. hp0009lx5z Lower jaw bone infection|Osteomyelitis, especially of the mandible HP:0005869 UMLS:C1290708|SNOMEDCT_US:109695005 human_phenotype owl:Class HP:0009788 biolink:NamedThing Quadriceps aplasia Absence of the quadriceps muscle. hp0009lx5z Absent quads peter 2009-02-03T05:18:11Z UMLS:C3805765 human_phenotype owl:Class HP:0009819 biolink:NamedThing Lower limb phocomelia Phocomelia affecting only the lower limbs. hp0009lx5z doelkens 2009-02-23T05:11:07Z SNOMEDCT_US:253963009|UMLS:C0265625 human_phenotype owl:Class HP:0032201 biolink:NamedThing Rotator cuff tear The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus. hp0009lx5z 2019-01-20 11:23:57+00:00 Rotator cuff tears can be caused by injury, overuse, or other causes and may be associated with pain and swelling of the shoulder. peter owl:Class HP:0100446 biolink:NamedThing Curved proximal phalanx of the 3rd toe A deviation from the normal straight form of the proximal phalanx of the third toe. hp0009lx5z Curved innermost bone of 3rd toe UMLS:C4022081 human_phenotype owl:Class HP:0010699 biolink:NamedThing Triangular nuclear cataract A nuclear cataract with a triangular form. hp0009lx5z peter 2010-03-20T02:58:26Z UMLS:C4023733 human_phenotype owl:Class HP:0010421 biolink:NamedThing Duplication of the distal phalanx of the 2nd toe Partial or complete duplication of the distal phalanx of second toe. hp0009lx5z Partial/complete duplication of the distal phalanx of the 2nd toe|Duplication of the outermost bone of the 2nd toe doelkens 2009-07-16T12:44:41Z UMLS:C4021272 human_phenotype owl:Class HP:0031293 biolink:NamedThing Digital pitting scar Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe. hp0009lx5z 2017-08-13 21:25:54+00:00 peter owl:Class HP:0006690 biolink:NamedThing Myocardial calcification Calcium deposition in the myocardium. hp0009lx5z Calcified myocardium Calcification affecting the muscle layer of the heart. Fyler:1889|UMLS:C1096561 owl:Class HP:0030452 biolink:NamedThing Chylolymphatic mesenteric cyst A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid. hp0009lx5z UMLS:C4072944 owl:Class HP:0025145 biolink:NamedThing Rigors Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever. hp0009lx5z Rigours 2016-11-29 11:15:45+00:00 A sudden attack of severe shivering accompanied by chills (a feeling of coldness) is called a rigor and may be associated with a marked rise in body temperature. Patients often describe rigors as an attack of uncontrollable shaking. Rigors are often a sign of infection, particularly bacterial infection. HPO:probinson owl:Class HP:0025143 biolink:NamedThing Chills A sudden sensation of feeling cold. hp0009lx5z Chills 2016-11-29 11:10:01+00:00 The word chills can also refer to an episode of shivering, accompanied by paleness and feeling cold. HPO:probinson owl:Class HP:0031847 biolink:NamedThing Difficulty walking backward Reduced ability to walk (ambulate) in a backwards direction. hp0009lx5z 2018-05-05 15:41:41+00:00 We walk backward on a daily basis, such as when backing away from the kitchen sink or stepping back from a curb as a swiftly moving bus passes. This task may be particularly difficult for some individuals who can fall as a result of moving or being perturbed in the backward direction. Some individuals with Parkinson disease exhibit this feature. peter owl:Class HP:0006362 biolink:NamedThing Varus deformity of humeral neck hp0009lx5z UMLS:C1854948 human_phenotype owl:Class HP:0032109 biolink:NamedThing Moderately reduced contrast sensitivity A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss. hp0009lx5z Moderate reduction in contrast sensitivity 2018-11-17 14:18:29+00:00 peter owl:Class HP:0006028 biolink:NamedThing Metaphyseal cupping of metacarpals Metaphyseal cupping affecting the metacarpal bones. hp0009lx5z Metacarpal/metaphyseal cupping|Cupping of wide portion of long bone of hand HP:0006131 UMLS:C1855171 human_phenotype owl:Class HP:0010098 biolink:NamedThing Complete duplication of the 1st metatarsal A developmental defect consisting in the complete duplication of the first metatarsal bone. hp0009lx5z Complete duplication of the 1st long bone of foot doelkens 2009-05-29T12:20:12Z HP:0008121 UMLS:C4024050 human_phenotype owl:Class HP:0010155 biolink:NamedThing Ivory epiphysis of the 1st metatarsal The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. hp0009lx5z Increased bone density of end part of the 1st long bone of foot doelkens 2009-05-29T01:24:17Z UMLS:C4024004 human_phenotype owl:Class HP:0000103 biolink:NamedThing Polyuria An increased rate of urine production. hp0009lx5z Increased urine output An excessive volume of urination for an adult is more than 2.5 liters of urine per day. HP:0200060 UMLS:C0032617|SNOMEDCT_US:718402002|SNOMEDCT_US:56574000|SNOMEDCT_US:28442001|MSH:D011141 human_phenotype owl:Class HP:0033580 biolink:NamedThing Compound motor action potential abnormality An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). hp0009lx5z 2021-01-24 16:18:16+00:00 peter owl:Class HP:0031407 biolink:NamedThing Impaired cytokine signaling A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. hp0009lx5z Impaired cytokine signalling|Cytokine signaling defect|Cytokine signalling defect 2017-09-03 16:00:18+00:00 peter owl:Class HP:0007542 biolink:NamedThing Absent pigmentation of the ventral chest Lack of skin pigmentation (coloring) of the anterior chest. hp0009lx5z UMLS:C4024848 human_phenotype owl:Class HP:0040007 biolink:NamedThing Absent pigmentation of chest Lack of skin pigmentation (coloring) of the chest. hp0009lx5z Lack of skin coloring on chest|Lack of skin colouring on chest HPO:skoehler UMLS:C4022498 human_phenotype owl:Class HP:0009822 biolink:NamedThing Aplasia involving forearm bones hp0009lx5z Absent forearm bones doelkens 2009-02-23T05:12:10Z UMLS:C4024195 human_phenotype owl:Class HP:0020107 biolink:NamedThing Unusual helminthic infection An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth). hp0009lx5z 2019-04-08 19:28:54+00:00 robinp owl:Class HP:0031428 biolink:NamedThing Increased circulating osteocalcin level An elevated level of osteocalcin in the blood. hp0009lx5z 2017-09-16 11:32:28+00:00 peter owl:Class HP:0031427 biolink:NamedThing Abnormal circulating osteocalcin level A deviation from the normal concentration of osteocalcin in the blood circulation. hp0009lx5z 2017-09-16 11:25:47+00:00 Osteocalcin, also known as bone gamma-carboxyglutamic acid (Gla) protein (BGP), is the most abundant noncollagenous protein of bone matrix. It is released by osteoblasts during bone formation and binds with the mineralized bone matrix. Osteocalcin has an endocrine function, regulating glucose and lipid homeostasis. peter owl:Class HP:0400007 biolink:NamedThing Polymenorrhea Frequent menses; menstrual cycles lasting less than 21 days. hp0009lx5z SNOMEDCT_US:52754008|UMLS:C0032519|MSH:D008599 owl:Class HP:0005885 biolink:NamedThing Absent ossification of cervical vertebral bodies A lack of bone mineralization of one or more body of cervical vertebra. hp0009lx5z UMLS:C4025115 human_phenotype owl:Class HP:0025283 biolink:NamedThing Tender Applied to pain that is tender, i.e., elicited by touching the affected body part. hp0009lx5z 2016-12-18 15:25:03+00:00 HPO:probinson owl:Class HP:0006552 biolink:NamedThing Fibrocystic lung disease hp0009lx5z UMLS:C1397290 human_phenotype owl:Class HP:0031995 biolink:NamedThing Squawks Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles. hp0009lx5z 2018-07-15 19:48:18+00:00 Squawks are found in pulmonary fibrosis of various causes, particularly in hypersensitivity pneumonitis. Other causes are detected in pneumonia and bronchiolitis obliterans. peter owl:Class HP:0030828 biolink:NamedThing Wheezing A high-pitched whistling sound associated with labored breathing. hp0009lx5z Wheezing Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less MSH:D012135|SNOMEDCT_US:56018004|UMLS:C0043144 owl:Class HP:0100804 biolink:NamedThing Ungual fibroma Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). hp0009lx5z Parungual fibromas|Koenen tumor|Periungual fibroma|Koenen tumour|Koenen's tumor|Koenen's tumour Ungual fibromas are characteristic of tuberous sclerosis. doelkens 2011-06-09T11:59:55Z UMLS:C0442880|SNOMEDCT_US:264561009 human_phenotype owl:Class HP:0033526 biolink:NamedThing Limited ankle dorsiflexion Reduced ability to move the foot up toward the shin. hp0009lx5z 2021-01-15 12:25:01+00:00 peter owl:Class HP:0011681 biolink:NamedThing Subarterial ventricular septal defect A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. hp0009lx5z Doubly committed ventricular septal defect|Infundibular ventricular septal defect|Conal ventricular septal defect|Supracristal ventricular septal defect|Type 1 ventricular septal defect peter 2012-04-10T08:09:32Z UMLS:C3165130|SNOMEDCT_US:448876006|Fyler:1330 human_phenotype owl:Class HP:0410068 biolink:NamedThing Increased level of L-glutamic acid in blood An increase in the level of L-glutamic acid in the blood. hp0009lx5z 2018-01-29 22:56:49+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0500148 biolink:NamedThing Abnormal circulating glutamate concentration Any deviation from the normal concentration of glutamate in the blood circulation. hp0009lx5z Abnormality of glutamate metabolism 2018-10-04 14:22:57+00:00 owl:Class HP:0009694 biolink:NamedThing Small thumb epiphysis Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms. hp0009lx5z Small epiphyses of the thumb|Small end part of thumb long bone doelkens 2009-01-30T09:20:16Z UMLS:C4021402 human_phenotype owl:Class HP:0004855 biolink:NamedThing Reduced protein S activity An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. hp0009lx5z Protein S deficiency Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis. UMLS:C0242666|MSH:D018455|SNOMEDCT_US:1563006|UMLS:C4025284 human_phenotype owl:Class HP:0031767 biolink:NamedThing Consecutive esotropia Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection. hp0009lx5z 2018-01-21 14:48:32+00:00 peter owl:Class HP:0410199 biolink:NamedThing Increased CSF urate concentration Increased concentration of urate in the cerebrospinal fluid. hp0009lx5z Elevated CSF urate concentration|Increased cerebrospinal fluid urate 2018-07-20 22:56:41+00:00 owl:Class HP:0500117 biolink:NamedThing Abnormal CSF urate concentration Abnormal concentration of urate in the cerebrospinal fluid (CSF). hp0009lx5z 2018-07-20 15:35:00+00:00 Urate is largely excluded from the brain under non-inflammatory conditions but increases in particular conditions such as Guillain-Barre Syndrome and bacterial meningitis. owl:Class HP:0012771 biolink:NamedThing Increased arm span Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). hp0009lx5z Increased arm span peter 2014-04-07T03:10:35Z UMLS:C4022729 human_phenotype owl:Class HP:0012769 biolink:NamedThing Abnormal arm span A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) hp0009lx5z Abnormal arm span peter 2014-04-07T03:09:08Z UMLS:C4022731 human_phenotype owl:Class HP:0032877 biolink:NamedThing Focal aware sensory seizure with hot-cold sensations A seizure characterized by sensations of feeling hot and then cold. hp0009lx5z peter owl:Class HP:0005892 biolink:NamedThing Proximal tibial and fibular fusion hp0009lx5z Fusion of innermost shinbone and calf bone UMLS:C4025113 human_phenotype owl:Class HP:0025224 biolink:NamedThing Triggered by sodium ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium. hp0009lx5z Triggered by Na+ ingestion|Triggered by Na ingestion|Triggered by sodium intake|Sodium intake triggered attacks|Triggered by salt ingestion|Sodium ingestion triggered symptoms 2016-12-10 14:08:50+00:00 HPO:probinson owl:Class HP:0020203 biolink:NamedThing Z-band streaming Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. hp0009lx5z robinp 2019-12-23 15:58:23+00:00 owl:Class HP:0020202 biolink:NamedThing Abnormal Z disc morphology Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. hp0009lx5z Z-discs (Z-disk, Z-line, Z-band) delineate the lateral borders of sarcomeres and are the smallest functional units in striated muscle. The core of a Z-disc consists of actin filaments coming from adjacent sarcomeres which are crosslinked by alpha-actinin molecules. Z-discs, which are difficult to detect in conventional light microscopy, appear in the longitudinal view of electron microscopy as electron dense bands with varying sizes, ranging from 30 to 50 nm in fast muscle and 100 t0 140 nm in slow muscle and cardiac myocytes. robinp 2019-12-23 15:57:40+00:00 owl:Class HP:0040312 biolink:NamedThing Temporomandibular arthritis hp0009lx5z Arthritis of temporomandibular joint owl:Class HP:0000371 biolink:NamedThing Acute otitis media Acute otitis media is a short and generally painful infection of the middle ear. hp0009lx5z Acute middle ear infection SNOMEDCT_US:3110003|UMLS:C0271429 human_phenotype owl:Class HP:0002036 biolink:NamedThing Hiatus hernia The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. hp0009lx5z Hiatal hernia|Stomach hernia A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). peter 2008-02-20T11:28:00Z UMLS:C3489393|SNOMEDCT_US:84089009|MEDDRA:10020028|MSH:D006551 human_phenotype owl:Class HP:0410154 biolink:NamedThing Increased level of myristic acid in serum An increase in the level of myristic acid in the serum. hp0009lx5z Increased level of tetradecanoic acid in serum 2018-03-27 21:58:16+00:00 owl:Class HP:0012292 biolink:NamedThing Fusion of gums A congenital defect with an abnormal joining of the gums of the upper and lower jaw. hp0009lx5z Partial fusion of the gums|Synechia of the gums|Gingival synechia|Upper and lower gums fused together|Fusion of the gingiva|Fusion of gums peter 2013-04-11T05:52:35Z UMLS:C4022966 human_phenotype owl:Class HP:0012134 biolink:NamedThing Dysplastic erythropoesis hp0009lx5z peter 2012-09-16T08:01:11Z UMLS:C4023032 human_phenotype owl:Class HP:0006873 biolink:NamedThing Symmetrical progressive peripheral demyelination A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. hp0009lx5z UMLS:C4024972 human_phenotype owl:Class HP:0004804 biolink:NamedThing Congenital hemolytic anemia A form of hemolytic anemia with congenital onset. hp0009lx5z Congenital hemolytic anaemia|Neonatal hemolytic anaemia|Congenital haemolytic anemia|Congenital haemolytic anaemia|Neonatal hemolytic anemia HP:0004824|HP:0004811 SNOMEDCT_US:42601008|SNOMEDCT_US:38911009|UMLS:C0002881|UMLS:C4020827|MSH:D000745 human_phenotype owl:Class HP:0002021 biolink:NamedThing Pyloric stenosis An abnormal narrowing of the pylorus. hp0009lx5z Pyloric stenosis occurs in the first few months of life. SNOMEDCT_US:367403001|UMLS:C0034194|Fyler:4444|MEDDRA:10037621|MSH:D011707 human_phenotype owl:Class HP:0007428 biolink:NamedThing Telangiectasia of the oral mucosa Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. hp0009lx5z Angioectasia of the oral mucous membrane|Spider veins of the oral mucosa|Angioectasia of the oral mucosa|Telangiectasia of the oral mucous membrane UMLS:C4024882 human_phenotype owl:Class HP:0004220 biolink:NamedThing Short middle phalanx of the 5th finger Hypoplastic/small middle phalanx of the fifth finger. hp0009lx5z Brachymesophalangy V (finger)|Hypoplastic middle phalanx of the 5th finger|Short middle phalanx of the little finger|Hypoplastic/small middle phalanx of the little finger|Short middle bone of the pinkie finger|Brachymesophalangism V|Fifth finger mid-phalanx hypoplasia|5th finger middle phalangeal hypoplasia|Short middle bone of the pinky finger|Hypoplastic fifth finger middle phalanx|Type A3 brachydactyly|Short middle bone of the little finger|Hypoplastic/small middle phalanx of the 5th finger Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3). HP:0005706|HP:0005734|HP:0005649|HP:0005813|HP:0001243|HP:0003069|HP:0004221 UMLS:C1834060 owl:Class HP:0009370 biolink:NamedThing Type A brachydactyly hp0009lx5z doelkens 2009-01-13T10:50:19Z UMLS:C4024413 human_phenotype owl:Class HP:0011894 biolink:NamedThing Impaired thromboxane A2 agonist-induced platelet aggregation Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. hp0009lx5z peter 2012-06-03T08:51:33Z UMLS:C4023141 human_phenotype owl:Class HP:0025256 biolink:NamedThing Ameliorated by heat Applies to a sign or symptom that is improved or made more bearable by heat (including fever). hp0009lx5z Heat improves condition|Heat improves symptom|Fever improves condition 2016-12-17 14:20:45+00:00 HPO:probinson owl:Class HP:0012871 biolink:NamedThing Varicocele A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum. hp0009lx5z Vaginal varicocele "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. hecht 2014-06-09T11:07:41Z SNOMEDCT_US:46871008|MSH:D014646|SNOMEDCT_US:51070004|UMLS:C0042341 human_phenotype owl:Class HP:0031198 biolink:NamedThing Renal tubular epithelial cell casts A type of cellular urinary cast composed of renal tubular epithelial cells. hp0009lx5z 2017-06-27 10:53:27+00:00 Renal tubular epithelial cell casts can be observed in disorders including renal tubular necrosis, cytomegalovirus and other viral infections, kidney transplant rejection. peter owl:Class HP:0033260 biolink:NamedThing Livedo racemosa Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming. hp0009lx5z 2020-11-28 14:55:03+00:00 peter owl:Class HP:0033832 biolink:NamedThing Livedo A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels. hp0009lx5z Livedoid dermatitis 2021-05-09 12:35:14+00:00 peter owl:Class HP:0030104 biolink:NamedThing Abnormal muscle fiber gamma sarcoglycan Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. hp0009lx5z Abnormal muscle fibre gamma sarcoglycan UMLS:C4022641 owl:Class HP:5000026 biolink:NamedThing Anti-neurexin-3alpha antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha. hp0009lx5z Anti-neurexin-3alpha antibody ORCID:0000-0002-3387-1836 owl:Class HP:0003739 biolink:NamedThing Myoclonic spasms hp0009lx5z HP:0006963 UMLS:C3806442 human_phenotype owl:Class HP:0010450 biolink:NamedThing Esophageal stenosis An abnormal narrowing of the lumen of the esophagus. hp0009lx5z Narrowing of the esophagus|Narrowing of the oesophagus peter 2009-09-14T10:42:33Z SNOMEDCT_US:63305008|MSH:D004940|UMLS:C0014866 human_phenotype owl:Class HP:0030066 biolink:NamedThing Ependymoblastoma A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system. hp0009lx5z Ependymoblastoma is a rare tumor that occurs in infants and young children in the first two years of life. Both sexes are affected equally. Patients present with signs and symptoms of raised intracranial pressure and hydrocephalus. Focal neurological signs may be present in older children. On MRI, ependymoblastomas are large heterogeneously enhancing lesion with associated brain edema and mass effect. Ependymoblastomas are well-circumscribed lesions, with a distinct margin between tumor and normal brain, though focal microscopic extension and leptomeningeal invasion are common. Histologically, an ependymoblastoma is a primitive neuroectodermal tumor with tumor cell arranged in multilayered rosettes consisting of an outer rim of tumor cells merging with the surrounding undifferentiated neuroectodermal cells. The tumor cells are immunopositive for S100, vimentin, cytokeratin and GFAP, and show high mitotic activity. SNOMEDCT_US:21589007|MSH:D018242|UMLS:C0700367|SNOMEDCT_US:715901002 owl:Class HP:0006986 biolink:NamedThing Upper limb spasticity hp0009lx5z Uncontrollable movement in upper arms SNOMEDCT_US:394680009|UMLS:C1273957 human_phenotype owl:Class HP:0008229 biolink:NamedThing Thyroid lymphangiectasia The presence of lymphangiectasis of the thyroid gland. hp0009lx5z Thyroid lymphangiectasis A stretching and widening of the lymphatic vessels of the thyroid gland. HP:0008235 UMLS:C1856129 human_phenotype owl:Class HP:0033782 biolink:NamedThing Semilunar tooth An incisor with a half-moon shape incisal edge. hp0009lx5z Crescent-shape tooth|Semicircular tooth|Hutchinson incisor|Tooth, semilunar 2021-05-07 10:21:03+00:00 If a notch occupies most of incisal edge, it has been indicated as semilunar teeth or crescent-shaped. peter owl:Class HP:0030721 biolink:NamedThing Tetraphocomelia Phocomelia involving all four extremities. hp0009lx5z UMLS:C1849370 owl:Class HP:0004474 biolink:NamedThing Persistent open anterior fontanelle The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. hp0009lx5z Persistent, open anterior fontanel|Front fontanelle stays open|Anterior fontanelle open in adults HP:0004475|HP:0004483 UMLS:C1849537 human_phenotype owl:Class HP:0100536 biolink:NamedThing Abnormality of the fascia An abnormality of fascia. hp0009lx5z doelkens 2010-12-20T05:58:56Z UMLS:C4022028 human_phenotype owl:Class HP:0005952 biolink:NamedThing Decreased pulmonary function hp0009lx5z Impaired pulmonary function|Impaired lung function|Decreased lung function SNOMEDCT_US:80954004|UMLS:C0235063|MSH:D012131 owl:Class HP:0031425 biolink:NamedThing Increased circulating beta-C-terminal telopeptide level A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. hp0009lx5z Increased circulating beta-CTx level|Increased circulating beta-CrossLaps level 2017-09-16 11:22:41+00:00 peter owl:Class HP:0100869 biolink:NamedThing Palmar telangiectasia The presence of telangiectases on the skin of palm of hand. hp0009lx5z Telangiectases of palms and soles|Teleangiectases of palms doelkens 2011-11-30T11:19:45Z HP:0007399 UMLS:C4020948 human_phenotype owl:Class HP:0033615 biolink:NamedThing Displaced tracheal bronchus Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus. hp0009lx5z 2021-01-30 22:31:43+00:00 peter owl:Class HP:0033485 biolink:NamedThing Glomerular basement membrane disruption A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. hp0009lx5z Disruption of the glomerular basement membrane|Glomerular basement membrane rupture 2021-01-10 12:39:06+00:00 Disruption of the glomerular basement membrane (GBM) may occur in settings of inflammation (ANCA/antiGBM antibodies) or could be seen due to structural weakness of the GBM (Collagen IV disorders). This feature can be associated with extracapillary fibrin. The definition of this term intends to exclude glomeruli at the edge of the core where rupture could be iatrogenic or mechanical. peter owl:Class HP:0032033 biolink:NamedThing Vertical eyelid laxity Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. hp0009lx5z 2018-09-01 14:52:17+00:00 peter owl:Class HP:0003612 biolink:NamedThing Positive ferric chloride test If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood. hp0009lx5z Positive FeCl3 test The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. The urine phenylpyruvate concentration is elevated in phenylketonuria. UMLS:C4025589 human_phenotype owl:Class HP:0031825 biolink:NamedThing Freezing of gait Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. hp0009lx5z Freezing gait 2018-05-02 00:28:50+00:00 Freezing of gait is one of the most debilitating motor symptoms in patients with Parkinson's disease as it may lead to falls and a loss of independence. Patients may report that their feet are stuck to the floor as if held by magnets when trying to walk, resulting in a temporary blockage of the motor function involved in ambulation. peter owl:Class HP:0010950 biolink:NamedThing Abnormal fourth ventricle morphology An abnormality of the fourth ventricle. hp0009lx5z Abnormality of the fourth ventricle The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata. peter 2011-01-17T12:58:00Z UMLS:C4023630 owl:Class HP:0012456 biolink:NamedThing Medial arterial calcification Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries. hp0009lx5z Medial arterial calcification causes stiffening and decreased compliance of the affected arteries. peter 2013-11-24T10:50:45Z UMLS:C4022896 owl:Class HP:0032812 biolink:NamedThing Neonatal electro-clinical non-motor seizure hp0009lx5z peter owl:Class HP:0020143 biolink:NamedThing Tracheal duplication cyst A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium. hp0009lx5z Tracheal duplication cyst is a rare congenital malformation presenting in childhood with stridor or dysphagia from a mass effect on the trachea or esophagus. The features of the tracheal duplication cyst are similar to those of bronchogenic duplication cyst and laryngeal duplication cyst, but with histopathological features of the trachea. The trachea is known to originate from the respiratory diverticulum, a ventral outpouching of foregut lumen. The postulated embryological basis of a tracheal duplication cyst may be similar to that of the anomalous bronchi and is a result of abnormal budding of the bronchial tree during the fourth to sixth weeks of embryogenesis. robinp 2019-07-05 19:01:46+00:00 owl:Class HP:0009641 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the thumb hp0009lx5z Absent/small outermost thumb bone|Absent/underdeveloped outermost thumb bone doelkens 2009-01-29T05:19:33Z UMLS:C4024261 human_phenotype owl:Class HP:0030767 biolink:NamedThing Epignathus Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate. hp0009lx5z UMLS:C0266725|SNOMEDCT_US:31248004 owl:Class HP:0011220 biolink:NamedThing Prominent forehead Forward prominence of the entire forehead, due to protrusion of the frontal bone. hp0009lx5z Pronounced forehead|Prominent forehead|Prominence of frontal region|Protruding forehead|Bulging forehead Not to be confused with frontal bossing. peter 2011-12-07T09:49:36Z HP:0200061 UMLS:C1837260|UMLS:C1867446 human_phenotype owl:Class HP:0000718 biolink:NamedThing Aggressive behavior Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. hp0009lx5z physical aggression|Aggression|Aggressive behaviour|Aggressive behavior|Aggressiveness UMLS:C0001807|MSH:D000374|SNOMEDCT_US:248004009|SNOMEDCT_US:61372001|UMLS:C0424323|UMLS:C1457883 human_phenotype owl:Class HP:0008749 biolink:NamedThing Laryngeal hypoplasia Underdevelopment of the larynx. hp0009lx5z Hypoplastic larynx HP:0005935 UMLS:C0431527|SNOMEDCT_US:253736003 human_phenotype owl:Class HP:0002834 biolink:NamedThing Flared femoral metaphysis hp0009lx5z Flared metaphysis of thigh bone UMLS:C4025674 human_phenotype owl:Class HP:0007384 biolink:NamedThing Aberrant melanosome maturation hp0009lx5z UMLS:C1969516 human_phenotype owl:Class HP:0410248 biolink:NamedThing Increased anti-house dust mite IgE antibody level Increased level of IgE antibody against house dust mites, a common allergen. hp0009lx5z Increased level of anti-house dust IgE antibody|Increased anti-house dust IgE antibody level 2018-10-12 20:56:01+00:00 owl:Class HP:0410223 biolink:NamedThing Increased anti-dust mite IgE antibody level Increased level of IgE antibody against dust mites, such as house dust mites. hp0009lx5z Increased level of anti-dust mite IgE antibody 2018-10-03 16:52:07+00:00 owl:Class HP:0012494 biolink:NamedThing Anterior cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery. hp0009lx5z peter 2013-11-30T08:06:15Z UMLS:C1504567 human_phenotype owl:Class HP:0032548 biolink:NamedThing Increased placental thickness Abnormally elevated placental thickness. hp0009lx5z Placental thickness increased 2019-06-12 10:49:00+00:00 Placental thickness can be measured ultrasonographically at the thickest portion of the placenta or beneath the cord insertion, and in a representative portion perpendicular to the chorionic plate. The ultrasonographic measurement of placental thickness is a simple method to estimate placental size, and a thick placenta may be a useful predictor of adverse pregnancy outcomes. peter owl:Class HP:0033575 biolink:NamedThing Anti-H2A antibody positivity The presence of autoantibodies in the blood circulation that react against histone H2A. hp0009lx5z 2021-01-24 13:57:33+00:00 peter owl:Class HP:0100411 biolink:NamedThing Complete duplication of the middle phalanx of the 4th toe Complete duplication of middle phalanx of fourth toe. hp0009lx5z Complete duplication of the middle bone of the 4th toe|Complete duplication of the middle phalanx of the fourth toe UMLS:C4020986 human_phenotype owl:Class HP:0031469 biolink:NamedThing Low self esteem Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself. hp0009lx5z 2017-09-17 16:41:58+00:00 peter owl:Class HP:0003652 biolink:NamedThing Recurrent myoglobinuria Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. hp0009lx5z Myoglobinuria, recurrent|Myoglobinuria, episodic HP:0008313 UMLS:C1838877|MSH:C564018 owl:Class HP:0007299 biolink:NamedThing Dysfunction of lateral corticospinal tracts hp0009lx5z UMLS:C1832671 owl:Class HP:0032655 biolink:NamedThing Decreased adipose tissue tocopherol level A reduced concentration of tocopherol in fat tissue. hp0009lx5z Tocopherols, the major forms of vitamin E, are a group of fat soluble phenolic compounds. About 90 percent of the total body content of tocopherol is found in adipose tissue. Therefore, vitamin E in adipose tissue (AT) has been proposed as a potential indicator of long-term intake of vitamin E. peter owl:Class HP:0011127 biolink:NamedThing Perioral eczema A type of eczema that occurs in the lips and perioral area. hp0009lx5z Eczema around the mouth Perioral eczema mainly affects children. peter 2011-06-16T07:41:19Z UMLS:C1396126 human_phenotype owl:Class HP:0002555 biolink:NamedThing Absent pubic hair Absence of pubic hair. hp0009lx5z Absent pubic hair HP:0004537|HP:0004556 UMLS:C1859391 human_phenotype owl:Class HP:0010977 biolink:NamedThing Abnormal phagocytosis An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation. hp0009lx5z peter 2011-02-06T10:31:46Z UMLS:C4023617 human_phenotype owl:Class HP:0040151 biolink:NamedThing Epiblepharon of lower lid hp0009lx5z HPO:skoehler MSH:C565051|UMLS:C1851583 owl:Class HP:0010029 biolink:NamedThing Curved 1st metacarpal A deviation from the normal straight shape of the first metacarpal. hp0009lx5z Curved 1st long bone of hand doelkens 2009-05-27T04:24:30Z UMLS:C4024095 human_phenotype owl:Class HP:0005096 biolink:NamedThing Distal femoral bowing A bending or abnormal curvature of the distal portion of the femur. hp0009lx5z UMLS:C1860107 human_phenotype owl:Class HP:0025649 biolink:NamedThing Steroid-sensitive nephrotic syndrome with frequent relapses A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. hp0009lx5z Biopsy is necessary to determine underlying histology. Treatment with levamisole or immunosuppression (e.g. calcineurin inhibitors, cyclophosphamide or mycophenolat mofetil) in order to reduce steroid toxicity. peterrobinson owl:Class HP:0025647 biolink:NamedThing Steroid-sensitive nephrotic syndrome A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. hp0009lx5z SSNS peterrobinson owl:Class HP:0033494 biolink:NamedThing Glomerular basement membrane amyloid spicule Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. hp0009lx5z 2021-01-10 13:18:43+00:00 See Figure 3 of PMID:25852856. peter owl:Class HP:0031009 biolink:NamedThing Ainhum Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation. hp0009lx5z Dactylolysis spontanea 2017-05-13 21:33:40+00:00 peter owl:Class HP:0011929 biolink:NamedThing Hypersegmentation of proximal phalanx of third finger Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. hp0009lx5z This anomaly is characteristic for brachydactyly type C. peter 2012-06-10T10:49:28Z UMLS:C4023122 human_phenotype owl:Class HP:0032926 biolink:NamedThing Focal impaired awareness head nodding automatism seizure A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset. hp0009lx5z peter owl:Class HP:0032906 biolink:NamedThing Focal head nodding automatism seizure A type of focal automatism seizure characterized by involuntary head nodding at onset. hp0009lx5z peter owl:Class HP:0009727 biolink:NamedThing Achromatic retinal patches Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. hp0009lx5z Punched out areas of chorioretinal hypopigmentation peter 2009-01-31T10:49:15Z UMLS:C1860710 human_phenotype owl:Class HP:0030182 biolink:NamedThing Tetraplegia/tetraparesis Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. hp0009lx5z UMLS:C4022595 owl:Class HP:0011235 biolink:NamedThing Additional crus of antihelix Supernumerary ridge or crus of the ear arising from the antihelix. hp0009lx5z The supernumerary crus usually emanates posteriorly from the antihelix at, or just above, the point of its bifurcation but may have a different origin. In the former case, the finding is termed Stahl ear. peter 2011-12-15T07:16:54Z UMLS:C4023447 human_phenotype owl:Class HP:0010409 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 2nd toe hp0009lx5z Uneven increase in bone density in the middle bone of the 2nd toe doelkens 2009-07-16T12:43:52Z UMLS:C4023846 human_phenotype owl:Class HP:0000574 biolink:NamedThing Thick eyebrow Increased density/number and/or increased diameter of eyebrow hairs. hp0009lx5z Prominent eyebrows|Dense eyebrow|Heavy eyebrows|Thick eyebrows|Hypertrichosis of the eyebrow|Hypertrichosis of the eyebrows|Thick eyebrow|Bushy eyebrows Thickness can be regional (medial, middle/central, lateral) or total. HP:0004546 UMLS:C1853487 human_phenotype owl:Class HP:0006990 biolink:NamedThing Myelin-dependent gliosis A type of gliosis that occurs in the vicinity of injured neurons. hp0009lx5z UMLS:C4024954 human_phenotype owl:Class HP:0100380 biolink:NamedThing Aplasia of the distal phalanx of the 5th toe hp0009lx5z Absent outermost bone of the pinky toe|Absent outermost bone of the pinkie toe|Absent outermost bone of the little toe UMLS:C4022112 human_phenotype owl:Class HP:0003269 biolink:NamedThing Sudanophilic leukodystrophy hp0009lx5z SNOMEDCT_US:64855000|MSH:D020371|UMLS:C0205711 human_phenotype owl:Class HP:0002389 biolink:NamedThing Cavum septum pellucidum If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. hp0009lx5z Persistent cavum septum pellucidum|Widened cavum septum pellucidum|Large cavum septi pellucidi HP:0007336|HP:0006884|HP:0007091 UMLS:C1840380 human_phenotype owl:Class HP:0001799 biolink:NamedThing Short nail Decreased length of nail. hp0009lx5z Short nail|Short nails Use this designation when the length is reduced but the width is normal. HP:0200075 UMLS:C0423808|SNOMEDCT_US:247488004 human_phenotype owl:Class HP:0003239 biolink:NamedThing Phosphoethanolaminuria An increased concentration of phosphoethanolamine in the urine. hp0009lx5z High urine phosphoethanolamine levels UMLS:C0268412|SNOMEDCT_US:55236002|MSH:C562646 owl:Class HP:0001120 biolink:NamedThing Abnormality of corneal size Any abnormality of the size or morphology of the cornea. hp0009lx5z UMLS:C4025802 human_phenotype owl:Class HP:3000063 biolink:NamedThing Abnormality of internal jugular vein An abnormality of an internal jugular vein. hp0009lx5z vasilevs 2015-08-07T03:19:06Z UMLS:C4073270 human_phenotype owl:Class HP:0030249 biolink:NamedThing Enanthema A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx. hp0009lx5z UMLS:C0014034|SNOMEDCT_US:5862001 owl:Class HP:0031723 biolink:NamedThing Secondary esotropia Convergent squint which follows loss or impairment of vision. hp0009lx5z Sensory esotropia 2018-01-13 14:08:58+00:00 peter owl:Class HP:0012219 biolink:NamedThing Erythema nodosum An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. hp0009lx5z The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. peter 2013-03-30T06:57:07Z SNOMEDCT_US:32861005|UMLS:C0014743|MSH:D004893 human_phenotype owl:Class HP:0012637 biolink:NamedThing Renal calcium wasting High urine calcium in the presence of hypocalcemia. hp0009lx5z Renal Ca2+ wasting|Kidney Ca2+ wasting|Kidney Ca wasting|Renal Ca wasting|Kidney calcium wasting peter 2014-01-18T04:46:41Z UMLS:C2673441 human_phenotype owl:Class HP:0010617 biolink:NamedThing Cardiac fibroma A fibroma of the heart. hp0009lx5z sandra1 2009-10-28T06:13:11Z NCIT:C3041|UMLS:C1096654 owl:Class HP:0011110 biolink:NamedThing Recurrent tonsillitis Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. hp0009lx5z IRecurrent inflammation of tonsils peter 2011-06-10T07:46:38Z UMLS:C0040425|SNOMEDCT_US:90176007|MSH:D014069 owl:Class HP:0040104 biolink:NamedThing Osseous stenosis of the external auditory canal hp0009lx5z HPO:skoehler UMLS:C4022437 owl:Class HP:0003698 biolink:NamedThing Difficulty standing hp0009lx5z Standing instability|Difficulty in standing SNOMEDCT_US:249902000|UMLS:C0241237 human_phenotype owl:Class HP:0032427 biolink:NamedThing Abnormal HDL3c concentration Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. hp0009lx5z 2019-03-02 13:49:12+00:00 peter owl:Class HP:0002808 biolink:NamedThing Kyphosis Exaggerated anterior convexity of the thoracic vertebral column. hp0009lx5z Round back|Hyperkyphosis|Hunched back|Gibbus deformity HP:0002769|HP:0003314 MSH:D007738|SNOMEDCT_US:414564002|UMLS:C0022821|UMLS:C1845112 human_phenotype owl:Class HP:0012632 biolink:NamedThing Abnormal intraocular pressure An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. hp0009lx5z Abnormal eye pressure|Abnormal intraocular pressure peter 2014-01-17T11:20:17Z SNOMEDCT_US:24075007|UMLS:C0520999|MP:0005257 human_phenotype owl:Class HP:0008826 biolink:NamedThing Dislocation of the femoral head Joint dislocation of the femoral head. hp0009lx5z Dislocated head of thigh bone|Dislocated femoral heads UMLS:C1859446 human_phenotype owl:Class HP:0011972 biolink:NamedThing Hypoglycorrhachia Abnormally low glucose concentration in the cerebrospinal fluid. hp0009lx5z Decreased CSF glucose|Low glucose levels in cerebral spinal fluid peter 2012-07-18T08:45:55Z UMLS:C0598121 human_phenotype owl:Class HP:0031884 biolink:NamedThing Abnormal CSF glucose level A deviation from normal concentration of glucose content in the cerebrospinal fluid. hp0009lx5z 2018-05-13 13:54:21+00:00 peter owl:Class HP:0001457 biolink:NamedThing Abnormality of the musculature of the upper arm hp0009lx5z peter 2008-04-07T10:42:00Z UMLS:C4025775 human_phenotype owl:Class HP:0010291 biolink:NamedThing Prominent palatine ridges Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge. hp0009lx5z Large lateral palatal folds|Prominent lateral palatal folds|Prominent lateral palatal ridges|Large lateral palatal ridges|Prominent palatine folds Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly. peter 2009-07-12T11:33:40Z UMLS:C4021300 human_phenotype owl:Class HP:0033841 biolink:NamedThing Ocular pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye. hp0009lx5z Itchy eyes|Ocular itch 2021-05-30 16:32:42+00:00 peter owl:Class HP:0032713 biolink:NamedThing Focal impaired awareness motor seizure with version A focal motor seizure with version characterized by impaired awareness at some point during the seizure. hp0009lx5z Focal motor impaired awareness seizure with version Version id defined as sustained, forced, involuntary turning of the eyes or head. peter owl:Class HP:0410170 biolink:NamedThing Hippocampal atrophy Partial or complete wasting (loss) of hippocampus tissue that was once present. hp0009lx5z Atrophy of the hippocampus|Degeneration of the hippocampus 2018-05-07 18:29:30+00:00 The hippocampus is part of the temporal cortex (albeit allocortex rather than neocortex). owl:Class HP:0007112 biolink:NamedThing Temporal cortical atrophy Atrophy of the temporal cortex. hp0009lx5z UMLS:C4024936 human_phenotype owl:Class HP:0020071 biolink:NamedThing Viremia The presence of virus in the blood. hp0009lx5z 2019-01-21 22:33:34+00:00 peter owl:Class HP:0031509 biolink:NamedThing Dry nipple Abnormally dry skin in the area of the nipple of the breast. hp0009lx5z 2017-09-21 02:19:46+00:00 peter owl:Class HP:0100207 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 5th toe hp0009lx5z Irregular end part of the outermost bone of the pinkie toe|Irregular end part of the outermost bone of the little toe|Irregular end part of the outermost bone of the pinky toe doelkens 2010-06-24T05:03:31Z UMLS:C4022214 human_phenotype owl:Class HP:0032822 biolink:NamedThing Neonatal electro-clinical autonomic seizure Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea. hp0009lx5z May involve respiration (apnea). Typically seen with other seizure manifestations. EEG confirmation is mandatory. peter owl:Class HP:0010817 biolink:NamedThing Linear nevus sebaceous A type of nevus sebaceous with a linear form, raised borders and yellowish color. hp0009lx5z peter 2010-07-10T12:17:17Z SNOMEDCT_US:52298009|SNOMEDCT_US:239112008|MSH:D054000|SNOMEDCT_US:707136009|UMLS:C3854181 human_phenotype owl:Class HP:0010815 biolink:NamedThing Nevus sebaceous A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. hp0009lx5z Naevus sebaceous|Sebaceous naevus|Sebaceous nevus|Sebaceous mole|Organoid nevus peter 2010-07-10T12:07:03Z SNOMEDCT_US:52298009|SNOMEDCT_US:239112008|MSH:D054000|SNOMEDCT_US:707136009|UMLS:C3854181 human_phenotype owl:Class HP:0031631 biolink:NamedThing Subpleural honeycombing So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space. hp0009lx5z 2017-12-17 00:47:40+00:00 Pathologically, honeycombing represents destroyed and fibrotic lung tissue that contains numerous cystic airspaces with thick fibrous walls. peter owl:Class HP:0031630 biolink:NamedThing Abnormal subpleural morphology Any structural anomaly located between the pleura and the chest wall. hp0009lx5z 2017-12-17 00:44:36+00:00 peter owl:Class HP:0010587 biolink:NamedThing Triangular epiphyses hp0009lx5z Triangular end part of bone sandra1 2009-10-22T02:53:19Z UMLS:C4023784 human_phenotype owl:Class HP:0000646 biolink:NamedThing Amblyopia Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. hp0009lx5z Wandering eye|Wandering eyes|Lazy eye Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. UMLS:C0002418|SNOMEDCT_US:387742006|MSH:D000550 owl:Class HP:0100850 biolink:NamedThing Neoplasm of the penis A tumor (abnormal growth of tissue) of the penis. hp0009lx5z Penis tumour|Neoplasia of the penis|Penis tumor doelkens 2011-06-17T01:38:16Z NCIT:C3262|UMLS:C0030849|MSH:D010412|SNOMEDCT_US:126896003 human_phenotype owl:Class HP:0033245 biolink:NamedThing Abnormal alveolar type II pneumocyte morphology Any structural abnormality of alveolar type 2 (ATII) cells. hp0009lx5z Abnormal pulmonary type II cell morphology|Abnormal type II pneumocyte morphology|Abnormal alveolar epithelial type II cell morphology 2020-11-25 11:37:19+00:00 Alveolar type 1 (ATI) and type 2 (ATII) cells are specialized epithelial cells of the distal lung. ATI cells are flattened squamous cells that cover around 95% of the alveolar surface and lie adjacent to capillary endothelial cells to form the pulmonary gas exchange region. ATII cells have a compact morphology and cover the remaining 5% of the alveolar surface. The ultrastructural hallmark of ATII cells is the expression of lamellar bodies containing dipalmitoylphosphatidyl choline, the major lipid component of pulmonary surfactant that reduces surface tension in the alveoli to prevent collapse of the lungs at the end of expiration. ATII cells play an important role in innate immune responses within the lung with evidence that lung surfactant proteins have anti-microbial effects and reduce inflammation caused by the inhalation of irritants. peter owl:Class HP:0007992 biolink:NamedThing Lattice retinal degeneration hp0009lx5z UMLS:C0154856|SNOMEDCT_US:3577000 human_phenotype owl:Class HP:0100486 biolink:NamedThing Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal hp0009lx5z Fused innermost pinky toe bone with the 5th long bone of foot UMLS:C4022045 human_phenotype owl:Class HP:0002079 biolink:NamedThing Hypoplasia of the corpus callosum Underdevelopment of the corpus callosum. hp0009lx5z Hypoplastic corpus callosum|Corpus callosum hypoplasia|Underdevelopment of part of brain called corpus callosum|Hypoplasia of corpus callosum The corpus callosum appears thin in midline views of the brain in neuroradiological images. HP:0007026|HP:0002319 UMLS:C0344482|SNOMEDCT_US:204043002 owl:Class HP:0033727 biolink:NamedThing Diffuse lupus nephritis A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. hp0009lx5z Class IV lupus nephritis 2021-04-16 13:34:10+00:00 peter owl:Class HP:0031157 biolink:NamedThing Carotid cavernous fistula An abnormal connection between a carotid artery and the cavernous sinus. hp0009lx5z Caroticocavernous fistula 2017-06-18 13:31:58+00:00 The cavernous sinus is a dural venous sinus in the skull that is adjacent to the temporal bone and the sphenoid bone. The carotid cavernous fistula is a type of arteriovenous fistula that causes arterial blood to enter the cavernous sinus. Clinical findings include head, ocular, and facial pain, pulsatile proptosis, chemosis, periorbital edema, conjunctival injection, double vision, glaucoma and, visual loss. peter owl:Class HP:0100433 biolink:NamedThing Broad distal phalanx of the 5th toe hp0009lx5z Wide outermost bone of the pinky toe|Wide outermost bone of the little toe|Wide outermost bone of the pinkie toe|Broad outermost bone of the 5th toe UMLS:C4022094 human_phenotype owl:Class HP:0005882 biolink:NamedThing Dermatoglyphic variants hp0009lx5z UMLS:C4025116 human_phenotype owl:Class HP:0006429 biolink:NamedThing Broad femoral neck An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). hp0009lx5z Widened femoral necks|Broadening of femoral neck|Wide neck of thigh bone|Wide femoral neck HP:0008836|HP:0003369|HP:0008782|HP:0008781|HP:0003372 UMLS:C1849016 human_phenotype owl:Class HP:4000055 biolink:NamedThing Intestinal inflammation A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract. hp0009lx5z 2021-05-02 21:44:53+00:00 robinp owl:Class HP:0025028 biolink:NamedThing Abnormality of enteric nervous system morphology A structural anomaly of nerves of the enteric nervous system. hp0009lx5z 2016-08-27 11:10:48+00:00 The enteric nervous system represents a collection of about 500 million neurons that control virtually all gut functions (including motility), largely independent from the central nervous system. The enteric nervous system is located in the gut wall and extends throughout its length from the esophagus to the internal anal sphincter. HPO:probinson owl:Class HP:0100103 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 2nd toe hp0009lx5z Enlarged end part of the outermost bone of the 2nd toe doelkens 2010-06-24T10:04:20Z UMLS:C4022318 human_phenotype owl:Class HP:0030124 biolink:NamedThing Reduced muscle fiber lamin A/C A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue. hp0009lx5z Reduced muscle fibre lamin A/C UMLS:C4022621 owl:Class HP:0030123 biolink:NamedThing Abnormal muscle fiber lamin A/C A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. hp0009lx5z Abnormal muscle fibre lamin A/C UMLS:C4022622 owl:Class HP:0033742 biolink:NamedThing Intrarenal reflux Severe vesicoureteral reflux reaching the kidney parenchyma. hp0009lx5z 2021-04-16 14:19:01+00:00 peter owl:Class HP:0032759 biolink:NamedThing Focal sensory seizure with vestibular features A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation. hp0009lx5z Partial vestibular seizure|Focal vestibular seizure|Vestibular aura These seizures involve the parietal cortex, temporo-parieto-occipital junction or parieto-temporal cortex. peter owl:Class HP:0030628 biolink:NamedThing Foveal subretinal hyporeflective spaces on macular OCT hp0009lx5z UMLS:C4073098 owl:Class HP:0003463 biolink:NamedThing Increased extraneuronal autofluorescent lipopigment Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. hp0009lx5z Lipopigment in extraneuronal cells UMLS:C1859828 human_phenotype owl:Class HP:0032130 biolink:NamedThing Mycobacterium abscessus abscessus infection Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections. hp0009lx5z 2018-11-22 13:30:48+00:00 peter owl:Class HP:0002590 biolink:NamedThing Paralytic ileus hp0009lx5z MSH:D007418|UMLS:C0030446|SNOMEDCT_US:55525008 human_phenotype owl:Class HP:0002595 biolink:NamedThing Ileus Acute obstruction of the intestines preventing passage of the contents of the intestines. hp0009lx5z Gastrointestinal atony MEDDRA:10021328|UMLS:C1258215|MSH:D045823 human_phenotype owl:Class HP:5000042 biolink:NamedThing Anti-Sj/ITPR1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor. hp0009lx5z Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody ORCID:0000-0002-3387-1836 owl:Class HP:0000187 biolink:NamedThing Broad alveolar ridges hp0009lx5z Wide alveolar processes of jaw|Widened alveolar ridges|Broad alveolar processes of jaw|Wide gum ridges|Wide alveolar margins|Broad alveolar margins UMLS:C4280675|UMLS:C1857500 human_phenotype owl:Class HP:0008732 biolink:NamedThing Renal hypophosphatemia Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion. hp0009lx5z Three primary mechanisms of hypophosphatemia exist: increased renal excretion, decreased intestinal absorption, and movement of phosphate from the extracellular to intracellular compartments. The initial step in diagnosis involves determining whether hypophosphatemia is renal or nonrenal. UMLS:C4024631 human_phenotype owl:Class HP:0032954 biolink:NamedThing Renal tubular adenovirus inclusions Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage. hp0009lx5z peter owl:Class HP:0009314 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 4th finger Fusion of the proximal phalanx of the 4th finger with another bone. hp0009lx5z Fused innermost bone of ring finger doelkens 2009-01-08T05:11:48Z UMLS:C4024448 human_phenotype owl:Class HP:0100060 biolink:NamedThing Irregular epiphyses of the 3rd toe hp0009lx5z Irregular end part of the 3rd toe bone doelkens 2010-06-24T09:58:55Z UMLS:C4022361 human_phenotype owl:Class HP:0011507 biolink:NamedThing Macular flecks Pale often indistinct lesions of the macula. hp0009lx5z peter 2012-04-06T09:38:42Z UMLS:C4023322 human_phenotype owl:Class HP:0002226 biolink:NamedThing White eyebrow White color (lack of pigmentation) of the eyebrow. hp0009lx5z Blonde eyebrow|White eyebrow|Hypopigmented eyebrow|Depigmented eyebrow|Grey eyebrow|Pale eyebrow HP:0002228|HP:0004536 UMLS:C1836737|UMLS:C4280579|UMLS:C4280580 owl:Class HP:0032797 biolink:NamedThing Focal aware sensory seizure with olfactory features Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant. hp0009lx5z These seizures involve the mesial temporal or orbitofrontal regions. peter owl:Class HP:0010951 biolink:NamedThing Abnormal third ventricle morphology An abnormality of the third ventricle. hp0009lx5z Abnormality of the third ventricle The third ventricle is the cerebral ventricle that is located in the midline between the left and right lateral ventricles. peter 2011-01-17T01:00:31Z UMLS:C4023629 owl:Class HP:0006983 biolink:NamedThing Slowly progressive spastic quadriparesis hp0009lx5z UMLS:C4024955 human_phenotype owl:Class HP:0025130 biolink:NamedThing Decreased small intestinal mucosa lactase level Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges. hp0009lx5z Lactase deficiency 2016-11-15 12:01:54+00:00 HPO:probinson owl:Class HP:0007083 biolink:NamedThing Hyperactive patellar reflex hp0009lx5z Hyperreflexia in knees|Brisk knee jerk|Overactive knee reflex UMLS:C0240116 owl:Class HP:0009392 biolink:NamedThing Triangular epiphyses of the 5th finger A triangular appearance of the epiphyses of the 5th finger of the hand. hp0009lx5z Triangular end part of the pinkie finger|Delta-shaped epiphyses of the 5th finger|Triangular end part of the little finger|Triangular end part of the pinky finger doelkens 2009-01-13T01:19:03Z UMLS:C4021483 human_phenotype owl:Class HP:0004787 biolink:NamedThing Fulminant hepatitis Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. hp0009lx5z Note that different definitions of fulminant hepatitis are used in the medical literature. UMLS:C0302809|SNOMEDCT_US:427044009 human_phenotype owl:Class HP:0004448 biolink:NamedThing Fulminant hepatic failure Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver. hp0009lx5z peter 2008-03-18T10:09:00Z UMLS:C0162557|MSH:D017114|SNOMEDCT_US:197270009|SNOMEDCT_US:235884008 human_phenotype owl:Class HP:0005043 biolink:NamedThing Proximal humeral metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder). hp0009lx5z Irregular proximal humeral metaphyses UMLS:C1865128 human_phenotype owl:Class HP:0003913 biolink:NamedThing Humeral metaphyseal irregularity hp0009lx5z Irregular wide portion of long bone in upper arm|Irregular humeral metaphyses UMLS:C4021706 human_phenotype owl:Class HP:0032938 biolink:NamedThing Recurrent trauma-related distressing dreams Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events. hp0009lx5z peter owl:Class HP:0045026 biolink:NamedThing Abnormality of the mediastinum hp0009lx5z HPO:skoehler HP:0100722 UMLS:C4022395 owl:Class HP:0045027 biolink:NamedThing Abnormality of the thoracic cavity hp0009lx5z HPO:skoehler UMLS:C4022394 owl:Class HP:0012619 biolink:NamedThing Multiple bladder diverticula Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. hp0009lx5z Multiple pouches in bladder wall peter 2014-01-17T12:21:05Z UMLS:C4022817 human_phenotype owl:Class HP:0000015 biolink:NamedThing Bladder diverticulum Diverticulum (sac or pouch) in the wall of the urinary bladder. hp0009lx5z Bladder diverticula SNOMEDCT_US:197866008|UMLS:C0156273|MSH:C562406 human_phenotype owl:Class HP:0012845 biolink:NamedThing Single trichilemmoma Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle. hp0009lx5z peter 2014-06-06T08:06:37Z UMLS:C4022710 human_phenotype owl:Class HP:0041211 biolink:NamedThing Fractured proximal phalanx of digit 2 A partial or complete breakage of the proximal phalanx of digit 2. hp0009lx5z bone proximal phalanx of digit 2 owl:Class HP:0005359 biolink:NamedThing Aplasia of the thymus Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. hp0009lx5z Absent thymic shadow|Athymia|Lack of thymic shadow|Absent thymus MSH:C536288|UMLS:C0685894|SNOMEDCT_US:702623002|SNOMEDCT_US:91918005 human_phenotype owl:Class HP:0002689 biolink:NamedThing Absent paranasal sinuses Aplasia of the paranasal sinuses. hp0009lx5z Missing sinuses|Absence of paranasal sinuses|Missing paranasal sinuses|Aplasia of paranasal sinuses UMLS:C3804986|UMLS:C4072844|UMLS:C1857131 human_phenotype owl:Class HP:0010691 biolink:NamedThing Mirror image foot polydactyly Mirror image duplication of digits affecting the feet. hp0009lx5z Mirror image dupliction of toes doelkens 2010-03-05T05:05:05Z UMLS:C4021238 human_phenotype owl:Class HP:0002390 biolink:NamedThing Spinal arteriovenous malformation hp0009lx5z SNOMEDCT_US:261482004|UMLS:C0348023 human_phenotype owl:Class HP:0012103 biolink:NamedThing Abnormality of the mitochondrion An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. hp0009lx5z Mitochondrial abnormalities peter 2012-09-08T11:05:06Z UMLS:C4020732|UMLS:C4023042 human_phenotype owl:Class HP:0200030 biolink:NamedThing Punctate vasculitis skin lesions hp0009lx5z sebastiankohler 2010-06-17T02:55:38Z UMLS:C3277693 human_phenotype owl:Class HP:0000555 biolink:NamedThing Leukocoria An abnormal white reflection from the pupil rather than the usual black reflection. hp0009lx5z Leukokoria|White pupillary reflex The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma). SNOMEDCT_US:1361009|UMLS:C0152458 human_phenotype owl:Class HP:0002865 biolink:NamedThing Medullary thyroid carcinoma The presence of a medullary carcinoma of the thyroid gland. hp0009lx5z Medullary thyroid cancer NCIT:C3879|SNOMEDCT_US:255032005|UMLS:C0238462|MSH:C536914|SNOMEDCT_US:128916007 human_phenotype owl:Class HP:0040078 biolink:NamedThing Axonal degeneration hp0009lx5z HPO:skoehler UMLS:C1837496 owl:Class HP:0033638 biolink:NamedThing Intralobular septal thickening Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern. hp0009lx5z Intralobular lines 2021-02-03 13:28:12+00:00 Intralobular lines may be seen in various conditions, including interstitial fibrosis and alveolar proteinosis. peter owl:Class HP:0032155 biolink:NamedThing Abdominal cramps A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity. hp0009lx5z 2018-12-02 14:21:11+00:00 peter owl:Class HP:0001025 biolink:NamedThing Urticaria Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. hp0009lx5z Hives SNOMEDCT_US:126485001|SNOMEDCT_US:64305001|SNOMEDCT_US:247472004|MEDDRA:10046735|UMLS:C0042109|MSH:D014581 owl:Class HP:0031003 biolink:NamedThing Polyneuritis Simulataneous inflammation of multiple nerves. hp0009lx5z Multiple neuritis 2017-05-13 20:14:55+00:00 peter owl:Class HP:0001412 biolink:NamedThing Enteroviral hepatitis Inflammation of the liver due to infection with enterovirus. hp0009lx5z UMLS:C1843995 human_phenotype owl:Class HP:0008186 biolink:NamedThing Adrenocortical cytomegaly The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. hp0009lx5z This feature is common in Beckwith Wiedemann syndrome. UMLS:C1851720 human_phenotype owl:Class HP:0031033 biolink:NamedThing Impaired urinary acidification The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. hp0009lx5z Renal acidification defect 2017-05-27 11:07:24+00:00 peter owl:Class HP:0030586 biolink:NamedThing Abnormal Ishihara plate test hp0009lx5z UMLS:C4073059 owl:Class HP:0033418 biolink:NamedThing Elevated circulating 2-hydroxybutyric acid concentration Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range. hp0009lx5z 2021-01-09 17:22:15+00:00 peter owl:Class HP:0007935 biolink:NamedThing Juvenile posterior subcapsular lenticular opacities hp0009lx5z UMLS:C1863408 human_phenotype owl:Class HP:0007344 biolink:NamedThing Atrophy/Degeneration involving the spinal cord hp0009lx5z Atrophic and degenerative changes in the spinal cord UMLS:C1843858 human_phenotype owl:Class HP:0003166 biolink:NamedThing Increased urinary taurine Increased concentration of taurine in the urine. hp0009lx5z Increased urinary taurine UMLS:C3806447 owl:Class HP:0032659 biolink:NamedThing Non-convulsive status epilepticus with coma A type of status epilepticus without prominent motor symptoms and in the presence of coma. hp0009lx5z Subtle status epilepticus This includes the entity subtle status epilepticus proposed by some authors as the late, burned-out stage of generalized convulsive status epilepticus characterized by (subtle rather than predominant) focal or multifocal myoclonic movements, coma, and pseudoperiodic epileptiform discharges against a slow low-voltage background on EEG. peter owl:Class HP:0005311 biolink:NamedThing Agenesis of pulmonary vessels A developmental defect characterized by the lack of formation of the pulmonary blood vessels. hp0009lx5z Absent lung vessels UMLS:C1970630 owl:Class HP:0033788 biolink:NamedThing Cementum overgrowth Excess of cementum on the tooth root surface. hp0009lx5z Cementum hypertrophy|Drumstick-shaped root|Hypercementosis|Cementum overdeveloped|Cementation hyperplasia 2021-05-07 11:08:51+00:00 The excessive buildup of normal cementum (calcified tissue) on the roots of one or more teeth is an idiopathic, non-neoplastic condition. Cementum overgrowth may be either hyperplasia or hypertrophy of the cement; these terms can only be used if histological evidence of hypertrophy or hyperplasia have been established. peter owl:Class HP:0009936 biolink:NamedThing Narrow nasal septum Abnormally narrow nasal septum. hp0009lx5z Narrow nasal septum|Thin nasal septum|Narrow septum of nose|Decreased width of nasal septum|Thin septum of nose peter 2009-05-10T10:46:40Z UMLS:C4024155 human_phenotype owl:Class HP:0030565 biolink:NamedThing Best corrected visual acuity 1.2 LogMAR hp0009lx5z UMLS:C4073038 owl:Class HP:0012036 biolink:NamedThing Sternocleidomastoid amyotrophy Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head. hp0009lx5z peter 2012-07-27T01:51:24Z UMLS:C4023067 human_phenotype owl:Class HP:0030274 biolink:NamedThing Accessory scrotum Additional scrotum, or part of a scrotum in an abnormal location. hp0009lx5z Extra scrotum An accessory scrotum is typically located on the perineum, frequently associated with perineal lipoma, and occasionally with Hypospadias or Bifid penis, which should be coded separately. UMLS:C4022543 owl:Class HP:0000746 biolink:NamedThing Delusions A false belief that is held despite evidence to the contrary. hp0009lx5z Delusions SNOMEDCT_US:2073000|UMLS:C0011253|MSH:D003702 owl:Class HP:0003099 biolink:NamedThing Fibular overgrowth Relatively increased growth of the fibula compared to that of the tibia. hp0009lx5z Overgrowth of calf bone UMLS:C1864298 human_phenotype owl:Class HP:0005580 biolink:NamedThing Duplication of renal pelvis A duplication of the renal pelvis. hp0009lx5z UMLS:C1839269 human_phenotype owl:Class HP:0010944 biolink:NamedThing Abnormal renal pelvis morphology An abnormality of the renal pelvis. hp0009lx5z Abnormality of the renal pelvis peter 2011-01-16T03:33:55Z UMLS:C4023633 human_phenotype owl:Class HP:0033187 biolink:NamedThing Hyperimidodipeptiduria Elevated levels of proline-containing dipeptides in urine. hp0009lx5z Imidodipeptiduria 2020-10-04 11:55:48+00:00 Prolidase splits dipeptides containing C-terminal proline or hydroxyproline. In prolidase deficiency, normal recycling of proline cannot occur, and this leads to iminopeptiduria, the characteristic biochemical abnormality. Glycylproline is the major urinary imidodipeptide. Leucylproline can also be identified in persons with prolidase deficiency. peter owl:Class HP:0030955 biolink:NamedThing Alcoholism An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol. hp0009lx5z 2017-01-13 22:59:58+00:00 robinp owl:Class HP:0009596 biolink:NamedThing Aplasia of the proximal phalanx of the 2nd finger Absence of the proximal phalanx of the 2nd finger. hp0009lx5z Absent innermost bone of index finger doelkens 2009-01-29T10:19:36Z UMLS:C4024275 human_phenotype owl:Class HP:0012525 biolink:NamedThing Abnormal alpha granule distribution An anomalous location and arrangement of platelet alpha granules. hp0009lx5z peter 2013-12-15T08:56:17Z UMLS:C4022865 human_phenotype owl:Class HP:0003866 biolink:NamedThing Coarse humeral trabeculae hp0009lx5z UMLS:C4025544 human_phenotype owl:Class HP:0002593 biolink:NamedThing Intestinal lymphangiectasia Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. hp0009lx5z UMLS:C0024215|MSH:D008201|SNOMEDCT_US:197260007 human_phenotype owl:Class HP:0032941 biolink:NamedThing Intense psychological distress to cues Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events. hp0009lx5z peter owl:Class HP:0011408 biolink:NamedThing Moderate intrauterine growth retardation Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age. hp0009lx5z peter 2012-03-15T09:52:50Z UMLS:C4023370 human_phenotype owl:Class HP:0010306 biolink:NamedThing Short thorax Reduced inferior to superior extent of the thorax. hp0009lx5z Shorter than typical length between neck and abdomen peter 2009-07-12T02:13:42Z UMLS:C0426789|SNOMEDCT_US:249670005 human_phenotype owl:Class HP:0006520 biolink:NamedThing Progressive pulmonary function impairment hp0009lx5z UMLS:C1849570 owl:Class HP:0008424 biolink:NamedThing Hypoplastic 5th lumbar vertebrae hp0009lx5z Underdeveloped 5th lumbar vertebrae UMLS:C1859366 human_phenotype owl:Class HP:0001732 biolink:NamedThing Abnormality of the pancreas An abnormality of the pancreas. hp0009lx5z Abnormality of the pancreas|Pancreatic disease SNOMEDCT_US:3855007|UMLS:C0030286|UMLS:C4025751|MSH:D010182 human_phenotype owl:Class HP:0032590 biolink:NamedThing Renal neutrophilic tubulitis Infiltration of the renal tubular epithelium by neutrophils. hp0009lx5z peter owl:Class HP:0033056 biolink:NamedThing Impaired ability to organize Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine. hp0009lx5z Impaired ability to organise peter owl:Class HP:0003782 biolink:NamedThing Eunuchoid habitus A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). hp0009lx5z UMLS:C4025569 human_phenotype owl:Class HP:0006379 biolink:NamedThing Proximal tibial hypoplasia hp0009lx5z Proximal tibial hypopolasia Removed logical definition that used anonymous class. Requested new term from UBERON: 'proximal tibia' UMLS:C1856029 human_phenotype owl:Class HP:0030570 biolink:NamedThing Pinhole visual acuity 0.2 LogMAR hp0009lx5z UMLS:C4073043 owl:Class HP:0033472 biolink:NamedThing 10-minute APGAR score of 4 hp0009lx5z 2021-01-09 22:45:44+00:00 peter owl:Class HP:0006326 biolink:NamedThing Buried teeth encased in mucopolysaccharide hp0009lx5z Impacted teeth due to mucopolysaccharidoses|Failure of dental eruption due to mucopolysaccharidoses|Unerupted dentition due to mucopolysaccharidoses|Unerupted teeth due to mucopolysaccharidoses|Failure of tooth eruption due to mucopolysaccharidoses UMLS:C4025064 human_phenotype owl:Class HP:0000331 biolink:NamedThing Short chin Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. hp0009lx5z Small chin|Decreased height of chin|Vertical deficiency of chin|Short chin|Short lower third of face|Vertical hypoplasia of chin The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). UMLS:C1839323|UMLS:C3697248|SNOMEDCT_US:699439001 human_phenotype owl:Class HP:0100229 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 5th toe hp0009lx5z Irregular end part of the innermost bone of the little toe|Irregular end part of the innermost bone of the pinkie toe|Irregular end part of the innermost bone of the pinky toe doelkens 2010-06-24T05:04:53Z UMLS:C4022192 human_phenotype owl:Class HP:0012662 biolink:NamedThing Parietal hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan. hp0009lx5z Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the parietal cortex. peter 2014-02-15T11:45:41Z UMLS:C4022794 human_phenotype owl:Class HP:0011685 biolink:NamedThing Infra-aortic superior vena cava The superior vena cava passes below the aortic arch. hp0009lx5z The superior vena cava normally crosses superior and anterior to the aorta. peter 2012-04-10T08:36:00Z UMLS:C4023232 human_phenotype owl:Class HP:3000045 biolink:NamedThing Abnormality of genioglossus muscle An abnormality of a genioglossus muscle. hp0009lx5z vasilevs 2015-08-07T01:04:53Z UMLS:C4073253 human_phenotype owl:Class HP:0005217 biolink:NamedThing Duplication of internal organs hp0009lx5z UMLS:C4025234 human_phenotype owl:Class HP:0002190 biolink:NamedThing Choroid plexus cyst A cyst occurring within the choroid plexus within a cerebral ventricle. hp0009lx5z Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18. UMLS:C0338597|SNOMEDCT_US:230790004 human_phenotype owl:Class HP:0033828 biolink:NamedThing Middle mediastinal mass A type of inferior mediastinal mass that is located withinthe pericardium. hp0009lx5z 2021-05-09 12:29:44+00:00 peter owl:Class HP:0012642 biolink:NamedThing Cerebellar agenesis Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles. hp0009lx5z Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature. A secondary pontine hypoplasia is typically seen. The definition of cerebellar agenesis is based on the morphologic pattern and does not suggest the pathogenesis. Cerebellar agenesis may represent a malformation (e.g., mutations in PTF1A) or a disruption (e.g., hemorrhage that occurs during gestation or in the perinatal period, vascular insufficiency in Chiari II malformation and cerebellar herniation, and as a sequela of prematurity). peter 2014-01-22T08:14:57Z UMLS:C4022808 owl:Class HP:0007360 biolink:NamedThing Aplasia/Hypoplasia of the cerebellum hp0009lx5z Absent/small cerebellum|Atrophy/Degeneration affecting the cerebellum|Atrophy/Hypoplasia of the cerebellum|Cerebellar hypoplasia/atrophy|Absent/underdeveloped cerebellum peter 2008-03-31T05:30:00Z HP:0007368|HP:0006857 UMLS:C3279222 human_phenotype owl:Class HP:0008107 biolink:NamedThing Plantar crease between first and second toes The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe. hp0009lx5z UMLS:C1867132 human_phenotype owl:Class HP:0025188 biolink:NamedThing Retinal vasculitis Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. hp0009lx5z 2016-12-04 22:37:03+00:00 This term refers to the appearance of the retinal vessels on fundoscopy or other investigations. Retinal vasculitis may be associated with other manifestations such as visual impairment. HPO:probinson owl:Class HP:0025195 biolink:NamedThing Central diaphragmatic hernia A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present. hp0009lx5z Central hernia 2016-12-05 01:57:20+00:00 HPO:probinson owl:Class HP:0032998 biolink:NamedThing Increased cystatin C level A elevated concentration of cystatin C in the blood circulation. hp0009lx5z peter owl:Class HP:0010193 biolink:NamedThing Duplication of distal phalanx of toe A partial or complete duplication of one or more distal phalanx of toe. hp0009lx5z Partial/complete duplication of the distal phalanges of the toes|Duplication of outermost bone of toe doelkens 2009-05-29T01:52:41Z UMLS:C4021322 human_phenotype owl:Class HP:0012784 biolink:NamedThing Perinephritis Inflammation of the connective and adipose tissues surrounding the kidney. hp0009lx5z peter 2014-04-20T03:32:07Z MSH:D010501|SNOMEDCT_US:111404004|UMLS:C0031065 human_phenotype owl:Class HP:0002972 biolink:NamedThing Reduced delayed hypersensitivity Decreased ability to react to a delayed hypersensitivity skin test. hp0009lx5z Deficiency of delayed skin hypersensitivity|Decreased reactivity to skin test antigens|Impaired delayed hypersensitivity HP:0005434 UMLS:C1843386 human_phenotype owl:Class HP:0003121 biolink:NamedThing Limb joint contracture A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. hp0009lx5z Limb contractures HP:0005631|HP:0005839 UMLS:C1969879 human_phenotype owl:Class HP:0001769 biolink:NamedThing Broad foot A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. hp0009lx5z Broad foot|Broad feet|Wide foot UMLS:C1866241 human_phenotype owl:Class HP:0030281 biolink:NamedThing Cervical C3/C4 vertebral fusion Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. hp0009lx5z UMLS:C4022538 owl:Class HP:0012055 biolink:NamedThing Ciliary body melanoma Malignant tumor of melanocytes of the ciliary body. hp0009lx5z peter 2012-08-01T02:01:02Z UMLS:C0346379|SNOMEDCT_US:255015006|NCIT:C3224 human_phenotype owl:Class HP:0012499 biolink:NamedThing Descending aortic dissection A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. hp0009lx5z Type B aortic dissection According to the Stanford classification, type B aortic dissection begins beyond brachiocephalic vessels (begins distal to the left subclavian artery). peter 2013-11-30T08:44:18Z UMLS:C4022878 human_phenotype owl:Class HP:0031311 biolink:NamedThing Middle cerebral artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery. hp0009lx5z 2017-08-26 21:36:18+00:00 peter owl:Class HP:0005213 biolink:NamedThing Pancreatic calcification The presence of abnormal calcium deposition lesions in the pancreas. hp0009lx5z Pancreatic calcifications UMLS:C1842406 human_phenotype owl:Class HP:0005059 biolink:NamedThing Arthralgia/arthritis hp0009lx5z Joint pain/Joint inflammation UMLS:C4025256 human_phenotype owl:Class HP:0410010 biolink:NamedThing Abnormality of somatic nerve plexus Any abnormality of the somatic nerve plexus. hp0009lx5z UMLS:C4073189 owl:Class HP:0410009 biolink:NamedThing Abnormality of the somatic nervous system Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements. hp0009lx5z The SoNS consists of afferent and efferent nerves. Afferent nerves are responsible for relaying sensation to the central nervous system; efferent nerves are responsible for stimulating muscle contraction, including all the non-sensory neurons connected with skeletal muscles and skin. UMLS:C4073188 owl:Class HP:0011202 biolink:NamedThing EEG with diffuse acceleration EEG frequency is abnormally increased. hp0009lx5z hecht 2011-11-19T11:23:55Z UMLS:C4023472 human_phenotype owl:Class HP:0100118 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 2nd toe hp0009lx5z doelkens 2010-06-24T10:05:37Z UMLS:C4022303 human_phenotype owl:Class HP:0005151 biolink:NamedThing Preductal coarctation of the aorta Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. hp0009lx5z Proximal aortic coarctation Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. UMLS:C0265878|SNOMEDCT_US:13867009 human_phenotype owl:Class HP:0009533 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 2nd finger hp0009lx5z Speckled calcifications in end part of the innermost long bone of index finger doelkens 2009-01-16T01:12:34Z UMLS:C4024303 human_phenotype owl:Class HP:0030746 biolink:NamedThing Intraventricular hemorrhage Bleeding into the ventricles of the brain. hp0009lx5z Intraventricular haemorrhage UMLS:C0240059|SNOMEDCT_US:23276006 owl:Class HP:0008443 biolink:NamedThing Spinal deformities hp0009lx5z SNOMEDCT_US:298380006|UMLS:C0575157 owl:Class HP:0006442 biolink:NamedThing Hypoplasia of proximal fibula Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee. hp0009lx5z Small innermost upper end of calf bone|Underdeveloped innermost upper end of calf bone UMLS:C1859478 human_phenotype owl:Class HP:0007770 biolink:NamedThing Hypoplasia of the retina hp0009lx5z Underdeveloped retina|Retinal hypoplasia UMLS:C1854685 human_phenotype owl:Class HP:0100193 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 4th toe hp0009lx5z Cone-shaped end part of the innermost bone of the 4th toe doelkens 2010-06-24T04:54:59Z UMLS:C4022228 human_phenotype owl:Class HP:0100068 biolink:NamedThing Cone-shaped epiphyses of the 4th toe hp0009lx5z Cone-shaped end part of the 4th toe bone doelkens 2010-06-24T09:59:30Z UMLS:C4022353 human_phenotype owl:Class HP:0003922 biolink:NamedThing Spurred humeral metaphysis hp0009lx5z Spurred metaphysis of long bone of upper arm UMLS:C4025505 human_phenotype owl:Class HP:0033854 biolink:NamedThing Abnormal interlobular vein morphology Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). hp0009lx5z 2021-06-02 18:58:25+00:00 peter owl:Class HP:0009529 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 2nd finger hp0009lx5z Irregular end part of innermost long bone of index finger doelkens 2009-01-16T01:12:34Z UMLS:C4024307 human_phenotype owl:Class HP:0006420 biolink:NamedThing Asymmetric radial dysplasia The presence of asymmetric developmental dysplasia of the radius. hp0009lx5z UMLS:C1969396 human_phenotype owl:Class HP:0025375 biolink:NamedThing Orthotopic os odontoideum Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus. hp0009lx5z 2017-04-08 13:10:36+00:00 HPO:probinson owl:Class HP:0030377 biolink:NamedThing Increased proportion of immature B cells An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). hp0009lx5z Increased proportion of CD19+/CD21low B cells UMLS:C4072916 owl:Class HP:3000034 biolink:NamedThing Abnormality nasal septum cartilage morphology An abnormality of a cartilage of nasal septum. hp0009lx5z Abnormality of cartilage of nasal septum|Malformation of cartilage of nasal septum|Deformity of cartilage of nasal septum|Anomaly of cartilage of nasal septum|Abnormality of cartilage of septum of nose vasilevs 2015-08-07T00:27:26Z UMLS:C4073242 owl:Class HP:0010937 biolink:NamedThing Abnormality of the nasal skeleton An abnormality of the nasal skeleton. hp0009lx5z Distortion of the bones of the nose|Abnormality of the nasal skeleton|Anomaly of the nasal skeleton|Malformation of the bones of the nose|Malformation of the nasal skeleton|Distortion of the nasal skeleton|Deformity of the bones of the nose|Deformity of the nasal skeleton peter 2011-01-16T02:19:38Z UMLS:C4023639|UMLS:C4280361 human_phenotype owl:Class HP:0001953 biolink:NamedThing Diabetic ketoacidosis A type of diabetic metabolic abnormality with an accumulation of ketone bodies. hp0009lx5z Diabetic ketosis HP:0008253 SNOMEDCT_US:420422005|UMLS:C0011880|MSH:D016883 human_phenotype owl:Class HP:0006147 biolink:NamedThing Progressive fusion 2nd-5th pip joints hp0009lx5z UMLS:C1861310 human_phenotype owl:Class HP:0100960 biolink:NamedThing Asymmetric ventricles hp0009lx5z doelkens 2012-01-18T05:47:26Z UMLS:C4021909 owl:Class HP:0040149 biolink:NamedThing Woolly scalp hair The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. hp0009lx5z Afro-textured scalp hair|Kinky scalp hair texture|Nappy scalp hair texture|Wooly scalp hair HPO:skoehler UMLS:C4280293|UMLS:C4280291|UMLS:C4280292|UMLS:C4015203 owl:Class HP:0002224 biolink:NamedThing Woolly hair The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. hp0009lx5z Kinked hair|Wooly hair|Nappy hair texture|Afro-textured hair|Kinky hair texture See figures in PMID:20464096. MEDDRA:10048017|SNOMEDCT_US:52564001|UMLS:C0343073|UMLS:C4072835|UMLS:C4073292|UMLS:C4072836 human_phenotype owl:Class HP:0001039 biolink:NamedThing Atheroeruptive xanthoma hp0009lx5z UMLS:C4025807 human_phenotype owl:Class HP:0025128 biolink:NamedThing Reduced intraabdominal adipose tissue An abnormally reduced amount of adipose tissue in the abdominal cavity. hp0009lx5z 2016-11-14 02:33:27+00:00 HPO:probinson owl:Class HP:0030468 biolink:NamedThing Abnormal multifocal electroretinogram hp0009lx5z UMLS:C4072958 owl:Class HP:0008783 biolink:NamedThing Wide proximal femoral metaphysis Increased width of the proximal part of the shaft (metaphysis) of the femur. hp0009lx5z Wide metaphysis of innermost thighbone HP:0008790 UMLS:C4024623 human_phenotype owl:Class HP:0031000 biolink:NamedThing Vestibular saccular degeneration Deterioration or loss of the tissues of the saccule of the vestibule. hp0009lx5z 2017-05-13 20:01:44+00:00 peter owl:Class HP:0030999 biolink:NamedThing Abnormal vestibular saccule morphology Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement). hp0009lx5z 2017-05-13 18:38:27+00:00 peter owl:Class HP:0100259 biolink:NamedThing Postaxial polydactyly A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. hp0009lx5z Postaxial hexadactyly|Polydactyly, postaxial doelkens 2010-07-20T11:00:32Z HP:0005808 UMLS:C0220697|MSH:C562429 human_phenotype owl:Class HP:0008433 biolink:NamedThing Reversed usual vertebral column curves hp0009lx5z UMLS:C4024676 owl:Class HP:0032993 biolink:NamedThing Abnormal pulmonary fissure count A deviation from the normal number of pulmonary fissures. hp0009lx5z peter owl:Class HP:0030208 biolink:NamedThing Acetylcholine receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor. hp0009lx5z UMLS:C4022578 owl:Class HP:0002690 biolink:NamedThing Large sella turcica An abnormal enlargement of the sella turcica. hp0009lx5z Enlarged sella turcica|Hyperplasia of sella turcica|Large pituitary fossa|Big sella turcica|Prominent sella turcica|Large hypophysial fossa|Hyperplasia of hypophysial fossa|Hyperplasia of pituitary fossa HP:0005444 UMLS:C4072846|UMLS:C1843677|UMLS:C4072845 human_phenotype owl:Class HP:0025457 biolink:NamedThing Decreased CSF protein CSF total protein level is below the lower limit of normal. hp0009lx5z Decreased cerebrospinal fluid total protein|Hypoproteinorrhachia|Low CSF total protein 2017-05-05 10:34:12+00:00 HPO:probinson owl:Class HP:0011900 biolink:NamedThing Hypofibrinogenemia Decreased concentration of fibrinogen in the blood. hp0009lx5z Low fibrinogen level|Low fibrinogen activity peter 2012-06-03T03:39:47Z SNOMEDCT_US:234457009|UMLS:C0553681 human_phenotype owl:Class HP:0011898 biolink:NamedThing Abnormality of circulating fibrinogen An abnormality of the level of activity of circulating fibrinogen. hp0009lx5z Fibrinogen is an essential hemostatic factor that is converted to fibrin (a final product of the hemostatic pathway) by activated thrombin. peter 2012-06-03T03:35:43Z UMLS:C4023139 human_phenotype owl:Class HP:0012502 biolink:NamedThing Abnormality of the internal capsule An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus. hp0009lx5z peter 2013-11-30T09:29:18Z UMLS:C4022875 human_phenotype owl:Class HP:0008656 biolink:NamedThing Incomplete male pseudohermaphroditism hp0009lx5z UMLS:C4024645 human_phenotype owl:Class HP:0030206 biolink:NamedThing EMG: incremental response of compound muscle action potential to repetitive nerve stimulation A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation. hp0009lx5z This feature may be observed with Lambert-Eaton Myasthenic Ssyndrome. UMLS:C4022579 owl:Class HP:0010632 biolink:NamedThing Total anosmia Inability to detect any qualitative olfactory sensation. hp0009lx5z peter 2009-12-06T07:51:50Z UMLS:C4023768 owl:Class HP:0010787 biolink:NamedThing Genital neoplasm A tumor (abnormal growth of tissue) of the genital system. hp0009lx5z Genital tumor|Genital neoplasia|Genital tumour sdoelken 2010-05-04T09:47:50Z NCIT:C3262|UMLS:C0679347|UMLS:C4020767 human_phenotype owl:Class HP:0500115 biolink:NamedThing Increased stool urobilinogen concentration An increased amount of urobilinogen present in the stool. hp0009lx5z 2018-07-20 15:00:15+00:00 Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease. owl:Class HP:0011278 biolink:NamedThing Intrapulmonary sequestration A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree. hp0009lx5z peter 2011-12-31T07:43:28Z UMLS:C4023436 human_phenotype owl:Class HP:0100632 biolink:NamedThing Pulmonary sequestration The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration). hp0009lx5z Cystic lung lesion doelkens 2010-12-29T05:05:08Z SNOMEDCT_US:18620009|UMLS:C4020703|UMLS:C0006288|MSH:D001998 human_phenotype owl:Class HP:0003570 biolink:NamedThing Molybdenum cofactor deficiency Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. hp0009lx5z SNOMEDCT_US:29692004|MSH:C535811|UMLS:C0268119 human_phenotype owl:Class HP:0100440 biolink:NamedThing Bullet-shaped distal phalanx of the 3rd toe An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped outermost bone of the 3rd toe UMLS:C4022087 human_phenotype owl:Class HP:0003892 biolink:NamedThing Absent humeral epiphyseal ossification Lack of formation of bone in the epiphysis of the humerus. hp0009lx5z Absent maturation of end part of long bone in upper arm|Absent ossification of the humeral epiphyses Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation. UMLS:C4021713 human_phenotype owl:Class HP:0031294 biolink:NamedThing Hypoplastic right atrium Underdeveloped, small right heart atrium. hp0009lx5z 2017-08-13 21:36:55+00:00 peter owl:Class HP:0025580 biolink:NamedThing Abnormal right atrium morphology Any structural abnormality of the right atrium. hp0009lx5z 2017-12-15 23:56:01+00:00 HPO:probinson Fyler:1770 owl:Class HP:0012606 biolink:NamedThing Renal sodium wasting An abnormally increased sodium concentration in the urine in the presence of hyponatremia. hp0009lx5z Kidney sodium wasting|Renal Na+ wasting|Renal Na wasting peter 2014-01-16T06:23:16Z UMLS:C2748576 human_phenotype owl:Class HP:0005281 biolink:NamedThing Hypoplastic nasal bridge hp0009lx5z Small nasal bridge|Decreased size of nasal bridge|Small bridge of nose|Hypoplastic bridge of nose|Hypotrophic nasal bridge|Hypotrophic bridge of nose|Decreased size of bridge of nose UMLS:C1865597|UMLS:C4280494 human_phenotype owl:Class HP:0011018 biolink:NamedThing Abnormality of the cell cycle An abnormality of the cell cycle. hp0009lx5z Abnormality of the cell cycle peter 2011-02-22T07:09:31Z UMLS:C4023594 human_phenotype owl:Class HP:0032506 biolink:NamedThing Alien limb phenomenon Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb. hp0009lx5z 2019-05-23 23:05:15+00:00 Alien limb serves as a diagnostic feature of corticobasal syndrome. peter owl:Class HP:0040283 biolink:NamedThing Occasional Present in 5% to 29% of the cases. hp0009lx5z Occasional (29-5%) ORCID:0000-0002-5316-1399 ORPHA:453313 owl:Class HP:0012081 biolink:NamedThing Enlarged cerebellum An abnormally increased size of the cerebellum compared to other brain structures. hp0009lx5z peter 2012-08-18T05:29:26Z UMLS:C3278024 human_phenotype owl:Class HP:0031004 biolink:NamedThing Hemiareflexia Areflexia that is limited to one side of the body. hp0009lx5z 2017-05-13 20:18:36+00:00 peter owl:Class HP:0032471 biolink:NamedThing Focal polymicrogyria Polymicrogyria affecting one or multiple small areas of the cerebral cortex. hp0009lx5z 2019-04-09 10:52:07+00:00 peter owl:Class HP:0004961 biolink:NamedThing Pulmonary artery sling An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum. hp0009lx5z UMLS:C1856123 human_phenotype owl:Class HP:0002326 biolink:NamedThing Transient ischemic attack hp0009lx5z TIA|Transient ischemic attacks|Mini stroke|Transient ischaemic attacks|Transient ischaemic attack UMLS:C0917805|MSH:D002546 human_phenotype owl:Class HP:0001297 biolink:NamedThing Stroke Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. hp0009lx5z Cerebrovascular accidents|Stroke|Cerebral vascular events|Cerebrovascular accident HP:0002452 MSH:D020521|UMLS:C0038454|SNOMEDCT_US:230690007 owl:Class HP:0009154 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 5th finger A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. hp0009lx5z Delta-shaped epiphysis of the proximal phalanx of the 5th finger|Triangular end part of the innermost bone of pinky finger|Triangular end part of the innermost bone of little finger|Triangular end part of the innermost bone of pinkie finger peter 2008-12-22T05:50:39Z HP:0009156 UMLS:C4021518 human_phenotype owl:Class HP:0012025 biolink:NamedThing Abnormal circulating ornithine concentration Deviation from the normal concentration of ornithine in the blood circulation. hp0009lx5z Ornithine is an amino acid produced in the urea cycle by the splitting off of urea from arginine. Ornithine is a naturally occurring, non-proteinogenic amino acid found in meat, fish, dairy and eggs. peter 2012-07-26T10:48:59Z UMLS:C4023070 human_phenotype owl:Class HP:0011318 biolink:NamedThing Bicoronal synostosis Synostosis affecting the right and the left coronal suture. hp0009lx5z Bilateral coronal suture craniosynostosis|Bilateral coronal suture synostosis|Bilateral coronal craniosynostosis peter 2012-02-25T01:11:41Z UMLS:C4021164 human_phenotype owl:Class HP:0003990 biolink:NamedThing Pointed ulna hp0009lx5z UMLS:C4025461 human_phenotype owl:Class HP:5000014 biolink:NamedThing Anti-GlyR antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR). hp0009lx5z Anti-glycine receptor antibody ORCID:0000-0002-3387-1836 owl:Class HP:0033048 biolink:NamedThing Substantia nigra hypointensity on susceptibility-weighted imaging Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI). hp0009lx5z Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI) Susceptibility-weighted imaging (SWI) is a relatively new magnetic resonance (MR) technique that exploits the magnetic susceptibility differences of various tissues, such as blood, iron and calcification, as a new source of contrast enhancement. Low SWI signal intensity may suggest deposition of paramagnetic material. peter owl:Class HP:0012734 biolink:NamedThing Ketotic hypoglycemia Low blood glucose is accompanied by elevated levels of ketone bodies in the body. hp0009lx5z Ketotic low blood sugar peter 2014-03-23T03:00:50Z SNOMEDCT_US:20825002|UMLS:C0271713 human_phenotype owl:Class HP:0100959 biolink:NamedThing Dense metaphyseal bands Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex. hp0009lx5z Dense metaphyseal lines|Transverse metaphyseal bands doelkens 2012-01-18T05:25:57Z UMLS:C4020919 human_phenotype owl:Class HP:0031877 biolink:NamedThing Elevated hepcidin level An abnormally increased concentration of hepcidin in the blood circulation. hp0009lx5z 2018-05-06 14:13:19+00:00 peter owl:Class HP:0011597 biolink:NamedThing Right aortic arch with left descending aorta and left ductus arteriosus hp0009lx5z peter 2012-04-08T02:23:47Z UMLS:C4023276 human_phenotype owl:Class HP:0012074 biolink:NamedThing Tonic pupil An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation. hp0009lx5z Adie's tonic pupil|Adie pupil hecht 2012-08-11T09:58:20Z MSH:D015845|SNOMEDCT_US:24225004|UMLS:C0040416 human_phenotype owl:Class HP:0010612 biolink:NamedThing Plantar pits The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. hp0009lx5z sandra1 2009-10-28T01:25:57Z UMLS:C1852301 human_phenotype owl:Class HP:0030101 biolink:NamedThing Absent muscle fiber alpha sarcoglycan Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy. hp0009lx5z Absent muscle fibre alpha sarcoglycan UMLS:C4022644 owl:Class HP:0008935 biolink:NamedThing Generalized neonatal hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. hp0009lx5z Hypotonia, neonatal, generalized|Hypotonia, neonatal, generalised|Generalized low muscle tone in neonate|Generalised neonatal hypotonia|Generalised low muscle tone in neonate UMLS:C1845123 human_phenotype owl:Class HP:0001319 biolink:NamedThing Neonatal hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. hp0009lx5z Hypotonia, neonatal|Low muscle tone, in neonatal onset|Hypotonia, in neonatal onset|Congenital hypotonia HP:0008976|HP:0006830 UMLS:C2267233|SNOMEDCT_US:205294008|MSH:D009123 human_phenotype owl:Class HP:0000840 biolink:NamedThing Adrenogenital syndrome Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. hp0009lx5z HP:0001921 MSH:D047808|UMLS:C0302280|SNOMEDCT_US:237751000|SNOMEDCT_US:267395000|SNOMEDCT_US:271077003 human_phenotype owl:Class HP:0011529 biolink:NamedThing Multiple bilateral congenital hypertrophy of retinal pigment epithelium Sharply demarcated hyperpigmentation which is congenital. hp0009lx5z Multiple bilateral CHRPE Bilateral multiple CHRPE is strongly associated with familial adenomatous polyposis coli. peter 2012-04-06T09:25:33Z UMLS:C4021144 human_phenotype owl:Class HP:0008498 biolink:NamedThing No permanent dentition hp0009lx5z No secondary dentition|No adult dentition|Missing adult teeth|Absence of adult teeth|Absence of secondary dentition UMLS:C4024666 human_phenotype owl:Class HP:0008491 biolink:NamedThing Premature anterior fontanel closure Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. hp0009lx5z UMLS:C4024668 human_phenotype owl:Class HP:0000535 biolink:NamedThing Sparse and thin eyebrow Decreased density/number and/or decreased diameter of eyebrow hairs. hp0009lx5z Thin, sparse eyebrows|Sparse and thin eyebrow Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate. HP:0004520|HP:0004551|HP:0002222|HP:0002554 UMLS:C1832446 human_phenotype owl:Class HP:0045075 biolink:NamedThing Sparse eyebrow Decreased density/number of eyebrow hairs. hp0009lx5z Sparse eyebrow|Hypotrichosis of eyebrow|Sparse eyebrows owl:Class HP:0011903 biolink:NamedThing HbH hemoglobin Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia. hp0009lx5z Haemoglobin H|HbH haemoglobin|Hemoglobin H peter 2012-06-03T04:59:15Z UMLS:C3161174|SNOMEDCT_US:48553001 human_phenotype owl:Class HP:0020156 biolink:NamedThing Abnormal zona pellucida morphology Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida. hp0009lx5z During mammalian fertilization, sperm need to reach the cumulus-oocyte complex, get through the hyaluronic matrix of the cumulus and penetrate the zona pellucida (ZP) in order to fuse with the egg. robinp 2019-07-06 18:49:23+00:00 owl:Class HP:0020155 biolink:NamedThing Abnormal oocyte morphology An abnormal structure of the female germ cell (egg cell). hp0009lx5z robinp 2019-07-06 18:45:54+00:00 owl:Class HP:0000046 biolink:NamedThing Scrotal hypoplasia hp0009lx5z Smaller than typical growth of scrotum|Hypoplastic scrotum UMLS:C0431659|SNOMEDCT_US:204912007 human_phenotype owl:Class HP:0031955 biolink:NamedThing Antalgic gait To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. hp0009lx5z Limp 2018-07-07 13:50:24+00:00 peter owl:Class HP:0005715 biolink:NamedThing Flattened knee epiphyses hp0009lx5z Flattened end part of knee bone UMLS:C4025150 human_phenotype owl:Class HP:0008794 biolink:NamedThing Dysplastic iliac wing A general term that describes a congenital defect in the iliac wing resulting from abnormal development. hp0009lx5z Dysplastic iliac wings UMLS:C1837487 owl:Class HP:0008465 biolink:NamedThing Absent vertebra A developmental defect characterized by agenesis of one or more vertebral bodies. hp0009lx5z Absent vertebrae UMLS:C0158776|SNOMEDCT_US:15843004 human_phenotype owl:Class HP:0030235 biolink:NamedThing Extremely elevated creatine kinase An increased creatine kinase level more than 50X above the upper normal level. hp0009lx5z Extremely high CPK level|Extremely elevated CPK|Extremely elevated creatine phosphokinase|Extremely elevated serum CK level|Extremely elevated phospho-CK serum level UMLS:C4022564 owl:Class HP:0001331 biolink:NamedThing Absent septum pellucidum Absence of the septum pellucidum. hp0009lx5z Absence of septum pellucidum|Agenesis of the septum pellucidum|Absence of the septum pellucidum|Missing septum pellucidum TODO: Bundled term. Revise annotations and split this term. HP:0006969 MSH:C535562|SNOMEDCT_US:253143001|UMLS:C0431371 human_phenotype owl:Class HP:0500096 biolink:NamedThing Venom-induced anaphylaxis A form of anaphylaxis that is triggered by exposure to venom. hp0009lx5z 2018-04-27 20:09:07+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0041194 biolink:NamedThing Fractured epiphysis of second metatarsal bone A partial or complete breakage of the epiphysis of second metatarsal bone. hp0009lx5z bone epiphysis of second metatarsal bone owl:Class HP:4000052 biolink:NamedThing Avulsion fracture A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma. hp0009lx5z 2021-05-02 20:56:24+00:00 robinp owl:Class HP:0032254 biolink:NamedThing Increased circulating copper concentration An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration. hp0009lx5z Hypercupremia|Elevated serum copper 2019-01-27 17:13:31+00:00 peter owl:Class HP:0033646 biolink:NamedThing Absent hippocampal commissure Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum. hp0009lx5z Agenesis of the hippocampal commissure 2021-02-24 12:45:21+00:00 peter owl:Class HP:0011347 biolink:NamedThing Abnormality of ocular abduction An abnormality involving the movement of the eye outwards. hp0009lx5z peter 2012-03-01T10:18:05Z UMLS:C4023405 human_phenotype owl:Class HP:0031151 biolink:NamedThing Vitreomacular traction Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad. hp0009lx5z VMT 2017-06-18 13:11:03+00:00 peter owl:Class HP:0031777 biolink:NamedThing Cyclophoria A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation. hp0009lx5z 2018-01-27 11:40:02+00:00 peter owl:Class HP:0006765 biolink:NamedThing Chondrosarcoma A slowly growing malignant neoplasm derived from cartilage cells. hp0009lx5z MSH:D002813|NCIT:C2946|SNOMEDCT_US:14990007|SNOMEDCT_US:443520009|UMLS:C0008479 human_phenotype owl:Class HP:0007715 biolink:NamedThing Weak extraocular muscles hp0009lx5z UMLS:C1859436 human_phenotype owl:Class HP:0030094 biolink:NamedThing Reduced muscle fiber laminin beta 1 A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. hp0009lx5z Reduced muscle fibre laminin beta 1 UMLS:C4022649 owl:Class HP:0030093 biolink:NamedThing Abnormal muscle fiber laminin beta 1 A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. hp0009lx5z Abnormal muscle fibre laminin beta 1 UMLS:C4022650 owl:Class HP:0500065 biolink:NamedThing Retinopathy of prematurity prethreshold High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both. hp0009lx5z ROP prethreshold 2018-02-19 20:26:57+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0410234 biolink:NamedThing Increased anti-parasite IgE antibody level Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii. hp0009lx5z 2018-10-03 22:42:54+00:00 owl:Class HP:0011955 biolink:NamedThing Hepatic granulomatosis The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. hp0009lx5z peter 2012-06-21T09:11:32Z UMLS:C4023110 human_phenotype owl:Class HP:0007449 biolink:NamedThing Confetti-like hypopigmented macules hp0009lx5z UMLS:C1851705 human_phenotype owl:Class HP:0033174 biolink:NamedThing Bloody bronchoalveolar lavage fluid Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding. hp0009lx5z 2020-09-24 10:47:02+00:00 peter owl:Class HP:0032464 biolink:NamedThing Ureteral hypoplasia Underdevelopment of the ureter. hp0009lx5z Hypoplasia of the ureter|Ureter hypoplasia 2019-04-04 09:26:25+00:00 peter owl:Class HP:0003951 biolink:NamedThing Distal humeral metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow). hp0009lx5z Irregular wide portion of elbow bone|Irregular metaphyses of elbow UMLS:C4021703 human_phenotype owl:Class HP:0011837 biolink:NamedThing Partial IgA deficiency Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means. hp0009lx5z peter 2012-05-06T09:42:01Z UMLS:C4023167 human_phenotype owl:Class HP:0003001 biolink:NamedThing Glomus jugular tumor hp0009lx5z Glomus jugulare tumour|Glomus jugulare tumours|Glomus jugulare tumors|Glomus jugular tumour|Glomus jugulare tumor SNOMEDCT_US:32037004|UMLS:C0017671|SNOMEDCT_US:127030001|MSH:D005925 human_phenotype owl:Class HP:0000699 biolink:NamedThing Diastema Increased space between two adjacent teeth in the same dental arch. hp0009lx5z Dental diastasis|Diastasis of the teeth|Gap between teeth|Diastema of the teeth|Dental diastema|Gaps between teeth Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth. SNOMEDCT_US:35591002|MSH:D003970|UMLS:C0011998 owl:Class HP:0033211 biolink:NamedThing Decreased total iron binding capacity A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. hp0009lx5z 2020-10-12 12:01:40+00:00 peter owl:Class HP:0033212 biolink:NamedThing Abnormal total iron binding capacity Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. hp0009lx5z 2020-10-12 12:02:56+00:00 peter owl:Class HP:0011440 biolink:NamedThing Alcohol-induced rhabdomyolysis Rhabdomyolysis induced by intake of alcohol. hp0009lx5z peter 2012-03-18T12:21:35Z UMLS:C4023355 human_phenotype owl:Class HP:0031566 biolink:NamedThing Abnormal pulmonary valve cusp morphology Any structural anomaly of the pulmonary valve leaflets. hp0009lx5z 2017-09-29 23:10:58+00:00 peter Fyler:1652 owl:Class HP:0012511 biolink:NamedThing Temporal optic disc pallor A pale yellow discoloration of the temporal (lateral) portion of the optic disc. hp0009lx5z Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. peter 2013-12-08T08:55:48Z SNOMEDCT_US:247220006|UMLS:C0344299 human_phenotype owl:Class HP:0007755 biolink:NamedThing Juvenile epithelial corneal dystrophy hp0009lx5z SNOMEDCT_US:1674008|MSH:D053559|UMLS:C0339277 human_phenotype owl:Class HP:0003677 biolink:NamedThing Slowly progressive Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. hp0009lx5z Signs and symptoms worsen slowly with time|Slow disease progression|Slow progression|Slowly progressive disorder HP:0003681|HP:0003675 UMLS:C1854494 owl:Class HP:0030246 biolink:NamedThing Maternal first trimester fever The occurence of fever in a mother during the first trimester of pregnancy. hp0009lx5z UMLS:C4022561 owl:Class HP:0033391 biolink:NamedThing Bronchial artery hypertrophy Increase in the volume of bronchial artery wall due to the enlargement of its component cells. hp0009lx5z 2021-01-06 12:29:15+00:00 The bronchial circulation and other collateral vessels (eg, the intercostal, internal mammary, and inferior phrenic arteries) respond to chronic pulmonary ischemia and decreased pulmonary blood flow through hypertrophy or enlargement in an effort to maintain blood flow to the affected lung and participate in gas exchange through systemic-pulmonary arterial anastomoses that develop beyond the pulmonary artery obstruction. peter owl:Class HP:0030127 biolink:NamedThing Endometriosis The growth of endometrial tissue outside the uterus. hp0009lx5z The main manifestations of endometriosis are chronic upper abdominal pain and infertility. Endometriosis occurs primarily on the pelvic peritoneum, ovaries, and rectovaginal septum, and in rare cases on the diaphragm, pleura, and pericardium. Endometriosis affects 6 to 10% of women of reproductive age, 50 to 60% of women and teenage girls with pelvic pain, and up to 50% of women with infertility. Peritoneal disease, which is dependent on estrogen for growth, derives from retrograde menstruation of steroid hormone sensitive endometrial cells and tissues, which implant on peritoneal surfaces and elicit an inflammatory response. This response is accompanied by angiogenesis, adhesions, fibrosis, scarring, neuronal infiltration, and anatomical distortion resulting in pain and infertility. HP:0030013 UMLS:C0014175|MSH:D004715|SNOMEDCT_US:129103003|SNOMEDCT_US:396224008 owl:Class HP:0009789 biolink:NamedThing Perianal abscess The presence of an abscess located around the anus. hp0009lx5z peter 2009-02-03T05:19:42Z UMLS:C0031019|SNOMEDCT_US:82127005 human_phenotype owl:Class HP:0005798 biolink:NamedThing Posterior radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction. hp0009lx5z MSH:C566728|UMLS:C1867398 human_phenotype owl:Class HP:0010072 biolink:NamedThing Patchy sclerosis of the 1st metatarsal hp0009lx5z Uneven increase in bone density of the 1st long bone of foot doelkens 2009-05-29T12:13:57Z UMLS:C4024072 human_phenotype owl:Class HP:0100265 biolink:NamedThing Synostosis of metacarpals/metatarsals hp0009lx5z Fusion of long bones of hand/long bones of foot doelkens 2010-07-20T03:02:10Z UMLS:C4022177 human_phenotype owl:Class HP:0025118 biolink:NamedThing Lip discoloration Lightening or darkening of the lips from their usual coloring. hp0009lx5z 2016-11-01 11:25:02+00:00 HPO:probinson owl:Class HP:0009206 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 5th finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the middle bone of the pinkie finger|Enlarged end part of the middle bone of the pinky finger|Enlarged end part of the middle bone of the little finger doelkens 2009-01-05T05:22:18Z UMLS:C4024534 human_phenotype owl:Class HP:0005639 biolink:NamedThing Hyperextensible hand joints The ability of the joints of the hand to move beyond their normal range of motion. hp0009lx5z UMLS:C1856877 human_phenotype owl:Class HP:0031558 biolink:NamedThing Reduced fibroblast CD59 level Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry. hp0009lx5z 2017-09-24 23:23:25+00:00 peter owl:Class HP:0031552 biolink:NamedThing Reduced fibroblast surface marker level Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry. hp0009lx5z 2017-09-24 23:21:50+00:00 peter owl:Class HP:0000444 biolink:NamedThing Convex nasal ridge Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. hp0009lx5z Convex dorsum of nose|Polly beak nasal deformity|Convex nasal dorsum|Hooked nose|Beaklike protrusion|Beaked nose UMLS:C0240538 human_phenotype owl:Class HP:0030365 biolink:NamedThing Vaginal birth after Caesarian Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally. hp0009lx5z MSH:D016064|UMLS:C0080301 owl:Class HP:0007840 biolink:NamedThing Long upper eyelashes Increased length of the upper eyelashes. hp0009lx5z Long upper eyelashes|Increased length of upper eyelashes|Ciliary trichomegaly of upper eyelashes UMLS:C4024785 human_phenotype owl:Class HP:0025252 biolink:NamedThing Geographic tongue An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map. hp0009lx5z Annulus migrans|Wandering rash of the tongue|Lingual erythema migrans|Glossitis areata exfoliativa|Benign migratory glossitis 2016-12-17 14:09:31+00:00 HPO:probinson owl:Class HP:0030404 biolink:NamedThing Glucagonoma An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. hp0009lx5z The excessive glucagon secreted by a glucagonoma may lead to dermatitis (migratory necrolytic erythema), glucose intolerance, weight loss, anemia, diarrhea, and thromboembolism. MSH:D005935|UMLS:C0017689|SNOMEDCT_US:302823005|SNOMEDCT_US:16424000|SNOMEDCT_US:128855009 owl:Class HP:0030405 biolink:NamedThing Pancreatic endocrine tumor A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. hp0009lx5z Pancreatic endocrine tumour SNOMEDCT_US:126864006|UMLS:C0242363|SNOMEDCT_US:237596009|MSH:D007516|SNOMEDCT_US:399528006|SNOMEDCT_US:128878003|SNOMEDCT_US:76345009 owl:Class HP:0000808 biolink:NamedThing Penoscrotal hypospadias A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. hp0009lx5z UMLS:C0452147|SNOMEDCT_US:204889008 human_phenotype owl:Class HP:0025322 biolink:NamedThing Venous occlusion Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein. hp0009lx5z 2017-02-03 12:05:01+00:00 HPO:probinson owl:Class HP:0410181 biolink:NamedThing Increased glucose-6-phosphate dehydrogenase level in dried blood spot An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. hp0009lx5z Increased glucose-6-phosphate dehydrogenase level in DBS|Increased G6PD level in dried blood spot 2018-05-21 17:58:20+00:00 owl:Class HP:0025602 biolink:NamedThing Inferior rectus muscle restriction Mechanical limitation of the range of movement of the inferior rectus muscle. hp0009lx5z 2018-01-13 22:24:32+00:00 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. HPO:probinson owl:Class HP:0009295 biolink:NamedThing Short middle phalanx of the 4th finger Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. hp0009lx5z Short middle bone of 4th finger|Brachymesophalangy IV (finger)|Hypoplastic/small middle phalanx of ring finger|Short middle phalanx of ring finger|Hypoplastic/small middle phalanx of the 4th finger doelkens 2009-01-08T04:11:35Z HP:0004206|HP:0004205 UMLS:C4021497 owl:Class HP:0010966 biolink:NamedThing Abnormal circulating fatty-acid anion concentration Any deviation from the normal concentration of a fatty acid anion in the blood circulation. hp0009lx5z Abnormality of fatty acid anion A fatty acid anion is the conjugate base of a fatty acid. peter 2011-01-27T09:17:48Z UMLS:C4021209 human_phenotype owl:Class HP:0033976 biolink:NamedThing Volar fingernail The presence of an extra nail on the palmar (volar, ventral) surface of the finger. hp0009lx5z Palmar fingernail|Ventral fingernail 2021-06-25 14:01:35+00:00 peter owl:Class HP:0031380 biolink:NamedThing Abnormal B cell proliferation Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population. hp0009lx5z 2017-09-02 15:56:42+00:00 peter owl:Class HP:0008361 biolink:NamedThing Corticospinal tract pallor hp0009lx5z UMLS:C4024690 human_phenotype owl:Class HP:0003133 biolink:NamedThing Abnormality of the spinocerebellar tracts An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. hp0009lx5z UMLS:C4025647 human_phenotype owl:Class HP:0100598 biolink:NamedThing Pulmonary edema Fluid accumulation in the lungs. hp0009lx5z Lung oedema|Pulmonary oedema|Wet lung|Lung edema|Excess fluid in lungs doelkens 2010-12-27T05:10:09Z UMLS:C0034063|MSH:D011654|SNOMEDCT_US:19242006 human_phenotype owl:Class HP:0009442 biolink:NamedThing Curved phalanges of the 3rd finger Curved appearance of the phalanges of the 3rd finger. hp0009lx5z Curved bones of middle finger doelkens 2009-01-14T04:09:01Z UMLS:C4024359 human_phenotype owl:Class HP:0410314 biolink:NamedThing Decreased urinary 1-methylhistidine Decreased concentration of 1-methylhistidine in the urine. hp0009lx5z owl:Class HP:0410313 biolink:NamedThing Abnormal urinary 1-methylhistidine concentration Abnormal concentration of 1-methylhistidine in the urine. hp0009lx5z owl:Class HP:0002410 biolink:NamedThing Aqueductal stenosis Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. hp0009lx5z Narrowing of aqueduct of Sylvius|Aqueduct stenosis|Aqueduct of Sylvius stenosis MSH:D006849|UMLS:C2936786 owl:Class HP:0033904 biolink:NamedThing Renal arteriole intima/media hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. hp0009lx5z 2021-06-23 22:43:38+00:00 peter owl:Class HP:0030017 biolink:NamedThing Vaginismus Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress. hp0009lx5z Pelvic floor myalgia|Myalgia of pelvic floor Vaginismus usually develops as a conditioned response to painful penetration, or secondary to psychological/emotional factors. MSH:D052065|SNOMEDCT_US:79012001|UMLS:C2004487 owl:Class HP:0000415 biolink:NamedThing Abnormality of the choanae Abnormality of the choanae (the posterior nasal apertures). hp0009lx5z UMLS:C4025855 owl:Class HP:0012032 biolink:NamedThing Lipoma Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. hp0009lx5z Noncancerous fatty lump|Fatty lump peter 2012-07-27T01:33:13Z SNOMEDCT_US:46720004|UMLS:C0023798|MEDDRA:10024612|MPATH:417|MSH:D008067|SNOMEDCT_US:93163002 human_phenotype owl:Class HP:0030036 biolink:NamedThing Isothenuria Inability of the kidneys to produce either concentrated or dilute urine. hp0009lx5z Isothenuria is seen in the final stages of renal failure. It reflects rapid flushing of fluid through the tubules in renal failure as the number of functioning nephrons decreases; the normal concentrating (particularly) and diluting mechanisms of the kidney do not have time to function. The consequence is that the specific gravity of the urine becomes approximately the same as that of the glomerular filtrate. UMLS:C4022665 owl:Class HP:0011953 biolink:NamedThing Pulmonary lymphoma Lung parenchymal involvement with lymphoma. hp0009lx5z peter 2012-06-21T08:45:48Z UMLS:C0519063 human_phenotype owl:Class HP:0032595 biolink:NamedThing Renal tubular epithelial cell detachment Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. hp0009lx5z peter owl:Class HP:0032216 biolink:NamedThing Lymphocytic infiltration of the colorectal mucosa Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy. hp0009lx5z 2019-01-21 00:37:22+00:00 peter owl:Class HP:0025090 biolink:NamedThing Abnormal large intestinal mucosa morphology A structural anomaly of the mucous lining of the large intestine. hp0009lx5z 2016-10-24 00:55:54+00:00 HPO:probinson owl:Class HP:0031990 biolink:NamedThing Chvostek sign A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve. hp0009lx5z 2018-07-09 14:41:30+00:00 The Chvostek sign is considered to be a clinical indicator of hypocalcemia. peter owl:Class HP:0030439 biolink:NamedThing Anal canal adenocarcinoma An adenoma carcinoma that originates in the anal canal. hp0009lx5z Differentiating true anal canal adenocarcinoma from low rectal adenocarcinoma can be challenging. Most anal canal adenocarcinomas originate from anal glands, but cases developing in chronic tracts from fistula in ano are described. Multiple factors, including infection with HPV and HIV, history of receptive anal intercourse, smoking, and immunosuppression have been identified as risk factors. Clinical features include anal pain, induration of the anal canal, or abscess formation and a palpable lump. NCIT:C2852|UMLS:C1332259 owl:Class HP:0012097 biolink:NamedThing Intracranial dermoid cyst A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands. hp0009lx5z See Figure 9 in PMID:16714456. These cysts increase in size by means of glandular secretion and epithelial desquamation. Growth can lead to rupture of the cyst contents, causing a chemical meningitis that may lead to vasospasm, infarction, and even death. peter 2012-08-20T09:22:25Z UMLS:C4023044 human_phenotype owl:Class HP:0100726 biolink:NamedThing Kaposi's sarcoma A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV). hp0009lx5z doelkens 2011-06-06T04:33:09Z UMLS:C0036220|SNOMEDCT_US:49937004|SNOMEDCT_US:109385007|MSH:D012514 human_phenotype owl:Class HP:0005413 biolink:NamedThing Increased alpha-globulin An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant. hp0009lx5z SNOMEDCT_US:124022007|UMLS:C1167806 human_phenotype owl:Class HP:0032856 biolink:NamedThing Focal aware bilateral motor seizure A type of focal bilateral motor seizure during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0100879 biolink:NamedThing Enlarged ovaries hp0009lx5z Enlarged ovaries doelkens 2011-12-01T02:33:12Z UMLS:C0392039|SNOMEDCT_US:66998000 human_phenotype owl:Class HP:0020076 biolink:NamedThing Wrist ganglion A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule. hp0009lx5z Ganglion cyst of the wrist 2019-02-25 13:18:34+00:00 Thirteen to twenty percent of ganglia are found on the volar aspect of the wrist, arising via a pedicle from the radio scaphoid/scapholunate interval, scaphotrapezial joint, or the metacarpotrapezial joint, in that order of frequency. robinp owl:Class HP:0030531 biolink:NamedThing Altitudinal visual field defect hp0009lx5z UMLS:C4073005 owl:Class HP:0010504 biolink:NamedThing Increased length of the tibia An abnormal increase in the length of the tibia. hp0009lx5z Increased length of shinbone|Increased length of shankbone peter 2009-09-19T09:46:37Z UMLS:C4021864 human_phenotype owl:Class HP:0031006 biolink:NamedThing Acroparesthesia A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. hp0009lx5z 2017-05-13 20:23:24+00:00 peter owl:Class HP:0032014 biolink:NamedThing Dysmetric vertical saccades Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction. hp0009lx5z 2018-07-22 16:29:12+00:00 peter owl:Class HP:0000641 biolink:NamedThing Dysmetric saccades The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. hp0009lx5z Dysmetric eye movements|Dysmetric eye saccades|Uncoordinated eye movement UMLS:C1836392 human_phenotype owl:Class HP:0001738 biolink:NamedThing Exocrine pancreatic insufficiency Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. hp0009lx5z Inability to properly digest food due to lack of pancreatic digestive enzymes|Pancreatic insufficiency HP:0002581|HP:0004508|HP:0004509 UMLS:C0267963|SNOMEDCT_US:37992001|SNOMEDCT_US:47367009|UMLS:C0030293|MSH:D010188 human_phenotype owl:Class HP:0012092 biolink:NamedThing Abnormality of exocrine pancreas physiology A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. hp0009lx5z Abnormal exocrine pancreatic function peter 2012-08-20T09:17:46Z UMLS:C4021103 human_phenotype owl:Class HP:0030115 biolink:NamedThing Reduced muscle fiber dysferlin Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy. hp0009lx5z Reduced muscle fibre dysferlin UMLS:C4022630 owl:Class HP:0030113 biolink:NamedThing Abnormal muscle fiber dysferlin A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing. hp0009lx5z Abnormal muscle fibre dysferlin UMLS:C4022632 owl:Class HP:0001097 biolink:NamedThing Keratoconjunctivitis sicca Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. hp0009lx5z Xerophthalmia|Keratitis sicca|Dry eyes|Dry eye syndrome UMLS:C0013238|UMLS:C2930821|UMLS:C0043349|SNOMEDCT_US:302896008|MSH:D014985|UMLS:C0022575|MSH:D015352|MSH:C531719|SNOMEDCT_US:363677007|MSH:D007638|SNOMEDCT_US:46152009 human_phenotype owl:Class HP:0001096 biolink:NamedThing Keratoconjunctivitis Inflammation of the cornea and conjunctiva. hp0009lx5z MSH:D007637|UMLS:C0022573|SNOMEDCT_US:88151007 human_phenotype owl:Class HP:0003180 biolink:NamedThing Flat acetabular roof Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. hp0009lx5z Horizontal acetabulae|Horizontal acetabular roof|Horizontal acetabular roofs|Flat acetabular roofs|Flattened acetabular roof HP:0008834|HP:0003171|HP:0008832 UMLS:C1837485 human_phenotype owl:Class HP:0009556 biolink:NamedThing Absent tibia Absence of the tibia. hp0009lx5z Aplasia of the tibia|Absent shankbone|Absent shinbone peter 2009-01-27T06:09:44Z UMLS:C3276744 human_phenotype owl:Class HP:0031871 biolink:NamedThing Abnormal Langerhans cell morphology Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis. hp0009lx5z 2018-05-06 13:33:50+00:00 peter owl:Class HP:0010799 biolink:NamedThing Pinealoma A neoplasm of the pineal gland. hp0009lx5z peter 2010-06-25T09:27:58Z MSH:D010871|NCIT:C3328|SNOMEDCT_US:359619007|SNOMEDCT_US:127026004|SNOMEDCT_US:47598005|UMLS:C0031941 human_phenotype owl:Class HP:0012687 biolink:NamedThing Agenesis of pineal gland Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present. hp0009lx5z peter 2014-03-22T01:13:13Z UMLS:C3553078 human_phenotype owl:Class HP:0001538 biolink:NamedThing Protuberant abdomen A thrusting or bulging out of the abdomen. hp0009lx5z Abdominal protuberance|Extended belly|Belly sticks out UMLS:C1854928 human_phenotype owl:Class HP:0002737 biolink:NamedThing Thick skull base hp0009lx5z Increased thickness of bone of skull base|Thick skull base|Increased thickness of skull base UMLS:C1839507 human_phenotype owl:Class HP:0012426 biolink:NamedThing Optic disc drusen Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. hp0009lx5z Optic nerve head drusen Optic disc drusen can lead to an elevated disc and thus mimic disc swelling (pseudopapilledema). peter 2013-11-12T10:36:06Z UMLS:C0029128|MSH:D015594|SNOMEDCT_US:33629003 owl:Class HP:0032836 biolink:NamedThing Neonatal bilateral symmetric myoclonic seizure Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically. hp0009lx5z peter owl:Class HP:0025626 biolink:NamedThing Increased circulating oleate level An abnormally high concentration of oleic acid (oleate) in the blood circulation. hp0009lx5z 2019-04-09 00:25:28+00:00 HPO:probinson owl:Class HP:0002857 biolink:NamedThing Genu valgum The legs angle inward, such that the knees are close together and the ankles far apart. hp0009lx5z Genua valga|Knee joint valgus deformity|Knock knees|Genu valga|Genu valgus HP:0004999 UMLS:C0576093|MEDDRA:10023480|SNOMEDCT_US:299330008|MSH:D056304 human_phenotype owl:Class HP:0009554 biolink:NamedThing Preauricular hair displacement An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. hp0009lx5z Hair growing down to cheek|Projection of scalp hair onto lateral cheek|Hair displacement, preauricular, towards lateral cheekbone peter 2009-01-21T05:21:54Z UMLS:C4024296 human_phenotype owl:Class HP:0003565 biolink:NamedThing Elevated erythrocyte sedimentation rate An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. hp0009lx5z Raised erythrocyte sedimentation rate|Elevated sedimentation rate|High erythrocyte sedimentation rate|Elevated ESR|High ESR|Increased erythrocyte sedimentation rate UMLS:C0151632|SNOMEDCT_US:165468009 owl:Class HP:0001177 biolink:NamedThing Preaxial hand polydactyly Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. hp0009lx5z Extra thumb|Polydactyly affecting the thumb|Supernumerary thumb|thumb polydactyly|Preaxial polydactyly of hands HP:0005634|HP:0009604|HP:0006182|HP:0005629 SNOMEDCT_US:445216006|UMLS:C1395852|SNOMEDCT_US:205135003|MSH:C536332 human_phenotype owl:Class HP:0100215 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 5th toe hp0009lx5z Cone-shaped end part of the middle bone of the little toe|Cone-shaped end part of the middle bone of the pinkie toe|Cone-shaped end part of the middle bone of the pinky toe doelkens 2010-06-24T05:04:00Z UMLS:C4022206 human_phenotype owl:Class HP:0010678 biolink:NamedThing Enuresis diurna Enuresis occurring during waking hours of the day. hp0009lx5z sandra1 2010-03-01T09:11:51Z UMLS:C4023746 human_phenotype owl:Class HP:0031242 biolink:NamedThing Decreased circulating chylomicron concentration Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. hp0009lx5z Hypochylomicronemia|Decreased circulating chylomicron levels 2017-08-08 11:26:34+00:00 peter owl:Class HP:0040246 biolink:NamedThing Reduced antithrombin antigen Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation. hp0009lx5z This term has been requested and created by members of the BRIDGE consortium UMLS:C4280702 owl:Class HP:0030148 biolink:NamedThing Heart murmur An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. hp0009lx5z Heart murmurs|Heart murmur|Cardiac murmur|Cardiac murmurs Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc). SNOMEDCT_US:414786004|SNOMEDCT_US:88610006|MSH:D006337|UMLS:C0018808|SNOMEDCT_US:421493004 owl:Class HP:0030033 biolink:NamedThing Small finger Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. hp0009lx5z Small finger This is a bundled term, comprising Short finger and Slender digit, but it is so widely used that it is included. This term is only used if the finger has the normal number of phalangeal segments. An appropriate alternative term for the first digit is Small thumb, when it is the only digit affected. When a thumb and one or more fingers are affected, it may be more economical to specify Small fingers, F1-5 instead of separately specifying Small thumb and Small fingers F2-5. UMLS:C0575827|SNOMEDCT_US:299058009 owl:Class HP:0040120 biolink:NamedThing Abnormality of the reflex of the tensor tympani muscle hp0009lx5z HPO:skoehler UMLS:C4022427 owl:Class HP:0040141 biolink:NamedThing Tardive dyskinesia hp0009lx5z the involuntary movements are tardive, meaning they have a slow or belated onset HPO:skoehler UMLS:C0686347|MSH:D000071057 owl:Class HP:0010713 biolink:NamedThing 1-5 toe syndactyly Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot). hp0009lx5z Webbed 1st-5th toes|Syndactyly of all toes sdoelken 2010-03-26T05:22:26Z HP:0005812 UMLS:C4021235 human_phenotype owl:Class HP:0008314 biolink:NamedThing Decreased activity of mitochondrial complex II A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria. hp0009lx5z Respiratory complex II deficiency UMLS:C4024705|UMLS:C4020801 human_phenotype owl:Class HP:0012041 biolink:NamedThing Decreased fertility in males hp0009lx5z Decreased fertility in males peter 2012-07-30T06:50:19Z UMLS:C0151640 human_phenotype owl:Class HP:0032933 biolink:NamedThing Airway hyperresponsiveness An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist. hp0009lx5z peter owl:Class HP:0033848 biolink:NamedThing Receptive aphasia A type of aphasia that is characterized by impaired language comprehension. hp0009lx5z Fluent aphasia|Wernicke aphasia 2021-06-01 16:53:29+00:00 peter owl:Class HP:0002381 biolink:NamedThing Aphasia An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. hp0009lx5z Loss of words|Losing words|Difficulty finding words Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections. SNOMEDCT_US:87486003|UMLS:C0003537|MSH:D001037 owl:Class HP:0025263 biolink:NamedThing Stiff knee A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity. hp0009lx5z Stiff knee|Knee stiffness 2016-12-18 01:16:12+00:00 HPO:probinson owl:Class HP:0010109 biolink:NamedThing Short hallux Underdevelopment (hypoplasia) of the big toe. hp0009lx5z Short big toe|Hypoplastic hallux|Hypoplastic big toes|Short halluces|Small hallux doelkens 2009-05-29T12:46:14Z HP:0008105|HP:0001861|HP:0005610|HP:0001843 UMLS:C1865992 human_phenotype owl:Class HP:0031653 biolink:NamedThing Abnormal heart valve physiology Any functional abnormality of a cardiac valve. hp0009lx5z 2017-12-17 15:21:49+00:00 peter owl:Class HP:0009059 biolink:NamedThing Congenital generalized lipodystrophy hp0009lx5z Congenital generalised lipodystrophy SNOMEDCT_US:86907008|UMLS:C0221032|MSH:D052497|SNOMEDCT_US:284449005 human_phenotype owl:Class HP:0010689 biolink:NamedThing Mirror image polydactyly A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes. hp0009lx5z Mirror image duplication of digits Transplantation of the ZPA (zone of polarised activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. doelkens 2010-03-05T05:03:16Z SNOMEDCT_US:715440003|UMLS:C1851100|MSH:C535689 human_phenotype owl:Class HP:0002231 biolink:NamedThing Sparse body hair Sparseness of the body hair. hp0009lx5z Little body hair|Limited body hair|Sparse to absent body hair|Sparse body hair UMLS:C1862863 human_phenotype owl:Class HP:0011480 biolink:NamedThing Unilateral microphthalmos A developmental anomaly characterized by abnormal smallness of one eye. hp0009lx5z Abnormally small eyeball on one side|Unilateral nanophthalmos peter 2012-04-01T12:35:57Z UMLS:C4280323|UMLS:C3640024 human_phenotype owl:Class HP:0000568 biolink:NamedThing Microphthalmia A developmental anomaly characterized by abnormal smallness of one or both eyes. hp0009lx5z Abnormally small globe of eye|Decreased size of globe of eye|Microphthalmos|Decreased size of eyeball|Abnormally small eyeball|Nanophthalmos HP:0007996 MSH:D008850|SNOMEDCT_US:61142002|Fyler:4877|UMLS:C4280808|UMLS:C0026010|UMLS:C4280625|SNOMEDCT_US:204108000 human_phenotype owl:Class HP:0006930 biolink:NamedThing Frontoparietal cortical dysplasia The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe. hp0009lx5z UMLS:C4024959 human_phenotype owl:Class HP:0010914 biolink:NamedThing Abnormal circulating valine concentration Any deviation from the normal circulation of valine in the blood circulation. hp0009lx5z Abnormality of valine metabolism peter 2010-12-08T08:51:14Z UMLS:C4023656 human_phenotype owl:Class HP:0033110 biolink:NamedThing Elevated circulating alpha-aminobutyric acid concentration An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2. hp0009lx5z Elevated circulating homoalanine concentration 2020-08-29 12:06:38+00:00 peter owl:Class HP:0009693 biolink:NamedThing Pseudoepiphysis of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb. hp0009lx5z Pseudoepiphyses of the thumb doelkens 2009-01-30T09:20:16Z UMLS:C3552484 human_phenotype owl:Class HP:0000154 biolink:NamedThing Wide mouth Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). hp0009lx5z Broad mouth|Macrostomia|Large oral aperture|Large mouth|Wide mouth The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. HP:0002052|HP:0000181 UMLS:C0024433|MSH:D008265|SNOMEDCT_US:40159009 human_phenotype owl:Class HP:0011337 biolink:NamedThing Abnormality of mouth size hp0009lx5z Abnormality of mouth size|Anomaly of mouth size peter 2012-02-26T11:00:17Z UMLS:C4023408 human_phenotype owl:Class HP:0006812 biolink:NamedThing White mater abnormalities in the posterior periventricular region hp0009lx5z ORCID:0000-0002-5316-1399 UMLS:C1836525 human_phenotype owl:Class HP:0000201 biolink:NamedThing Pierre-Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. hp0009lx5z Robin sequence|Pierre Robin sequence|Pierre-robin deformity|Pierre-robin anomaly|Pierre-robin malformation UMLS:C0031900|MSH:D010855|SNOMEDCT_US:4602007 human_phenotype owl:Class HP:0004622 biolink:NamedThing Progressive intervertebral space narrowing A progressive form of decreased height of the intervertebral disk. hp0009lx5z UMLS:C1837670 human_phenotype owl:Class HP:0002945 biolink:NamedThing Intervertebral space narrowing Decreased height of the intervertebral disk. hp0009lx5z Narrow intervertebral disc spaces|Narrow intervertebral spaces A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination. UMLS:C0263870|SNOMEDCT_US:11301007 human_phenotype owl:Class HP:0009623 biolink:NamedThing Proximal placement of thumb Proximal mislocalization of the thumb. hp0009lx5z Low implantation of the thumb|Proximally placed thumbs|Low-set thumb|Attachment of thumb close to wrist Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. doelkens 2009-01-29T04:40:23Z HP:0001170|HP:0005668 UMLS:C1865572 owl:Class HP:0033340 biolink:NamedThing Increased circulating guanosine concentration Increased concentration of guanosine in the blood circulation. hp0009lx5z 2020-11-29 19:06:04+00:00 peter owl:Class HP:0005099 biolink:NamedThing Severe hydrops fetalis hp0009lx5z Severe hydrops UMLS:C1866048 human_phenotype owl:Class HP:0005222 biolink:NamedThing Bowel diverticulosis The presence of multiple diverticula of the intestine. hp0009lx5z Bowel diverticula UMLS:C1394691|UMLS:C1395674 human_phenotype owl:Class HP:0003167 biolink:NamedThing Carnosinuria An increased concentration of carnosine in the urine. hp0009lx5z High urine carnosine levels Carnosine is the N-(beta-alanyl) derivative of L-histidine. SNOMEDCT_US:410051001|UMLS:C3495558 owl:Class HP:0030359 biolink:NamedThing Squamous cell lung carcinoma A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells. hp0009lx5z Four subtypes of squamous cell lung carcinoma exist: (i) papillary; (ii) clear cell; (iii) small cell (distinct from small cell lung cancer); and (iv) basaloid. SNOMEDCT_US:254634000|UMLS:C0149782 owl:Class HP:0100176 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 4th toe hp0009lx5z doelkens 2010-06-24T04:53:36Z UMLS:C4022245 human_phenotype owl:Class HP:0005603 biolink:NamedThing Numerous congenital melanocytic nevi hp0009lx5z UMLS:C3806415 human_phenotype owl:Class HP:0032636 biolink:NamedThing Tubulointerstitial viral infiltration Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. hp0009lx5z Renal tubulointerstitial viral inclusions peter owl:Class HP:0010957 biolink:NamedThing Congenital posterior urethral valve A developmental defect resulting in an obstructing membrane in the posterior male urethra. hp0009lx5z Posterior urethral valves|Posterior urethral valve Congenital posterior urethral valve is a cause of bladder outlet obstruction in male newborns. It results from a failure of resorption of the caudal end of the Wolffian duct into the primitive cloaca at the site of the future verumontanum in the posterior urethra (Following normal resorption of the posterior urethral valve there remain the posterior urethral folds, also called plicae colliculi). peter 2011-01-18T10:51:22Z SNOMEDCT_US:253900005|UMLS:C0238506 human_phenotype owl:Class HP:0010498 biolink:NamedThing Bipartite patella A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood. hp0009lx5z peter 2009-09-17T11:39:39Z SNOMEDCT_US:79214007|UMLS:C0265666 human_phenotype owl:Class HP:0030873 biolink:NamedThing Anti-centromere antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components. hp0009lx5z ACA positivity|Anticentromere antibody positivity|Anti-centromere antibody positivity Anti-centromere antibodies are typically associated with pulmonary arterial hypertension and the limited cutaneous form of systemic sclerosis. UMLS:C4280732 owl:Class HP:0002464 biolink:NamedThing Spastic dysarthria A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. hp0009lx5z Rigid dysarthria SNOMEDCT_US:229684006|MSH:D004401|UMLS:C0454596 human_phenotype owl:Class HP:0001260 biolink:NamedThing Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. hp0009lx5z Dysarthric speech|Difficulty articulating speech HP:0002327 UMLS:C0013362|SNOMEDCT_US:8011004|MSH:D004401 human_phenotype owl:Class HP:0030172 biolink:NamedThing Peripheral amyelination Congenital absence of the myelin sheath on a nerve. hp0009lx5z UMLS:C4022600 owl:Class HP:0010658 biolink:NamedThing Patchy changes of bone mineral density Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density). hp0009lx5z doelkens 2010-02-25T10:42:39Z UMLS:C4023754 human_phenotype owl:Class HP:0005498 biolink:NamedThing Midline skin dimples over anterior/posterior fontanelles hp0009lx5z UMLS:C1855690 human_phenotype owl:Class HP:0041227 biolink:NamedThing Fractured distal tarsal bone 2 A partial or complete breakage of the distal tarsal bone 2. hp0009lx5z bone distal tarsal bone 2 owl:Class HP:0000710 biolink:NamedThing Hyperorality A tendency or compulsion to examine objects by mouth. hp0009lx5z Hyperoralia UMLS:C1838320 human_phenotype owl:Class HP:0008236 biolink:NamedThing Isosexual precocious puberty hp0009lx5z SNOMEDCT_US:4294006|UMLS:C0271528 human_phenotype owl:Class HP:0004681 biolink:NamedThing Deep longitudinal plantar crease Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. hp0009lx5z Longitudinal groove on soles|Foot crease UMLS:C4280508|UMLS:C1859223 human_phenotype owl:Class HP:0010281 biolink:NamedThing Cleft lower lip A gap in the lower lip. hp0009lx5z Cleft lower lip|Cleft of the lower lip|Lower labial cleft peter 2009-07-12T09:50:34Z UMLS:C1856026 human_phenotype owl:Class HP:0025234 biolink:NamedThing Parasomnia An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep. hp0009lx5z 2016-12-14 11:50:48+00:00 HPO:probinson owl:Class HP:0030504 biolink:NamedThing Grouped congenital hypertrophy of retinal pigment epithelium hp0009lx5z Bear track congenital hypertrophy of retinal pigment epithelium UMLS:C4072989 owl:Class HP:0007655 biolink:NamedThing Eversion of lateral third of lower eyelids hp0009lx5z UMLS:C1835801 human_phenotype owl:Class HP:0040261 biolink:NamedThing Increased size of nasopharyngeal adenoids An abnormal increase in the size of nasopharyngeal adenoids. hp0009lx5z Adenoid hypertrophy|Adenoids large SNOMEDCT_US:276442006|UMLS:C0149825|SNOMEDCT_US:111591002|UMLS:C0455938 owl:Class HP:0030111 biolink:NamedThing Reduced muscle fiber delta sarcoglycan Abnormally reduced amount of delta sarcoglycan in muscle. hp0009lx5z Reduced muscle fibre delta sarcoglycan UMLS:C4022634 owl:Class HP:0030323 biolink:NamedThing Unilateral vertebral artery hypoplasia Underdevelopment of the vertebral artery on one side. hp0009lx5z UMLS:C3279090 owl:Class HP:0030109 biolink:NamedThing Absent muscle fiber gamma sarcoglycan Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy. hp0009lx5z Absent muscle fibre gamma sarcoglycan UMLS:C4022636 owl:Class HP:0002699 biolink:NamedThing Abnormal foramen magnum morphology Any abnormality of the foramen magnum. hp0009lx5z Abnormality of the foramen magnum The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. UMLS:C4025687 owl:Class HP:0000160 biolink:NamedThing Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). hp0009lx5z Small oral aperture|Microstomia|Narrow mouth|Small mouth The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. HP:0009096|HP:0009095|HP:0002261 SNOMEDCT_US:14582003|UMLS:C0026034|MSH:D008865 human_phenotype owl:Class HP:0004463 biolink:NamedThing Absent brainstem auditory responses Lack of measurable response to stimulation of auditory evoked potentials. hp0009lx5z No auditory brainstem response UMLS:C1836742 human_phenotype owl:Class HP:0006958 biolink:NamedThing Abnormal auditory evoked potentials An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. hp0009lx5z Abnormal brainstem auditory-evoked potentials Auditory brainstem response audiometry typically uses a click stimulus that generates a response from the basilar region of the cochlea. HP:0006923|HP:0003151|HP:0004462 SNOMEDCT_US:102971006|UMLS:C0522216 human_phenotype owl:Class HP:0031304 biolink:NamedThing Iliac arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery. hp0009lx5z 2017-08-26 21:05:02+00:00 peter owl:Class HP:0030489 biolink:NamedThing Abnormal paracentral response of multifocal electroretinogram hp0009lx5z UMLS:C4072979 owl:Class HP:0005597 biolink:NamedThing Congenital alopecia totalis Loss of all scalp hair with congenital onset. hp0009lx5z UMLS:C4025175 human_phenotype owl:Class HP:0007418 biolink:NamedThing Alopecia totalis Loss of all scalp hair. hp0009lx5z Total alopecia SNOMEDCT_US:19754005|UMLS:C0263504 human_phenotype owl:Class HP:0100752 biolink:NamedThing Abnormal liver lobulation Formation of abnormal lobules (small masses of tissue) in the liver. hp0009lx5z Hepatic anomalous lobulation|Anomalous liver lobulation doelkens 2011-06-06T06:47:05Z UMLS:C0345286|SNOMEDCT_US:253811003 human_phenotype owl:Class HP:0032060 biolink:NamedThing Epithelioid hemangioma A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area. hp0009lx5z Angiolymphoid hyperplasia with eosinophilia 2018-09-16 11:50:05+00:00 Epithelioid hemangioma is most common in middle-aged adults. peter owl:Class HP:0032026 biolink:NamedThing Anetoderma Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis. hp0009lx5z 2018-09-01 14:38:17+00:00 Anetoderma is a skin disorder characterized by focal loss of dermal elastic tissue. Clinically, it can present as various types of flaccid skin, such as protruding (raised), indented (depressed), or flat. peter owl:Class HP:0001583 biolink:NamedThing Rotary nystagmus A form of nystagmus in which the eyeball makes rotary motions around the axis. hp0009lx5z Rotatory Nystagmus SNOMEDCT_US:95783006|UMLS:C0240595|MSH:D009759|SNOMEDCT_US:44526006 human_phenotype owl:Class HP:0033882 biolink:NamedThing Arcuate vein intima/medial amyloidosis Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. hp0009lx5z Amyloidosis within arcuate vein intima/media 2021-06-23 19:48:45+00:00 peter owl:Class HP:0005155 biolink:NamedThing Ventricular escape rhythm A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms). hp0009lx5z Idioventricular escape rhythm SNOMEDCT_US:81898007|UMLS:C0232216 human_phenotype owl:Class HP:0031162 biolink:NamedThing Impaired oropharyngeal swallow response Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. hp0009lx5z 2017-06-18 17:51:36+00:00 In the involuntary pharyngeal phase, the soft palate rises to close the nasopharynx and prevent nasal regurgitations. The hyoid bone rises, bringing the larynx up, while the epiglottis closes the entrance to the larynx. The base of the tongue contacts the pharyngeal wall, at the same time as the hyoid moves forward, coinciding with the relaxation of the cricopharyngeus muscle and the opening of the upper esophageal sphincter. peter owl:Class HP:0030364 biolink:NamedThing Secondary Caesarian section Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth. hp0009lx5z UMLS:C4072904 owl:Class HP:0100620 biolink:NamedThing Germinoma A type of undifferentiated germ cell tumor that may be benign or malignant. hp0009lx5z doelkens 2010-12-28T11:45:44Z MSH:D018237|SNOMEDCT_US:28307001|UMLS:C0206660 human_phenotype owl:Class HP:0001241 biolink:NamedThing Capitate-hamate fusion hp0009lx5z Fusion of capitate and hamate|Capitate-hamate fusions|Fused capitate and hamate|Fusion of hamate and capitate UMLS:C1857002 human_phenotype owl:Class HP:0025567 biolink:NamedThing Central serous chorioretinopathy An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. hp0009lx5z 2017-12-14 13:33:21+00:00 The condition can be precipitated by psychosocial stress and hypercortisolism. Ophthalmoscopic signs of CSC range from mono- or paucifocal RPE lesions with prominent elevation of the neurosensory retina by clear fluid - typical of cases of recent onset - to shallow detachments overlying large patches of irregularly depigmented RPE. The spectrum of lesions includes RPE detachments. Granular or fibrinous material may accumulate in the subretinal cavity. Serous detachment often resolves spontaneously. HPO:probinson owl:Class HP:0000564 biolink:NamedThing Lacrimal duct atresia A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. hp0009lx5z Nasolacrimal duct atresia|Unopened tear duct|Imperforate nasolacrimal ducts HP:0007729 SNOMEDCT_US:278530008|UMLS:C0344511 human_phenotype owl:Class HP:0100539 biolink:NamedThing Periorbital edema Edema affecting the region situated around the orbit of the eye. hp0009lx5z Periorbital oedema|Periorbital cellulitis doelkens 2010-12-20T06:09:04Z SNOMEDCT_US:267041004|UMLS:C0424810|SNOMEDCT_US:49563000|SNOMEDCT_US:109245003|UMLS:C0151205|UMLS:C0149754 human_phenotype owl:Class HP:0100875 biolink:NamedThing Hemimacroglossia Increased length and width of one half of the tounge. hp0009lx5z Hemiglossal hyperplasia|Hyperplasia of half of the tongue|Large half of tongue|Hemiglossal hypertrophy|Hypertrophy of half of the tongue|Increased size of half of the tongue doelkens 2011-12-01T02:15:01Z UMLS:C4021947|UMLS:C4280287 human_phenotype owl:Class HP:0033647 biolink:NamedThing Silhouette sign The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette. hp0009lx5z 2021-02-24 12:47:22+00:00 The silhouette sign is not always indicative of disease (eg, unexplained absence of right border of heart is seen in association with pectus excavatum and sometimes in healthy individuals). See Figure 67 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0011760 biolink:NamedThing Pituitary growth hormone cell adenoma A type of pituitary adenoma that produces growth hormone. hp0009lx5z Pituitary somatotropinoma peter 2012-04-22T03:38:10Z UMLS:C4018860 human_phenotype owl:Class HP:0031426 biolink:NamedThing Decreased circulating beta-C-terminal telopeptide level A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. hp0009lx5z Decreased circulating beta-CrossLaps level|Decreased circulating beta-CTx level 2017-09-16 11:22:56+00:00 peter owl:Class HP:0100214 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 5th toe hp0009lx5z Bracket shaped end part of the middle bone of the little toe|Bracket shaped end part of the middle bone of the pinkie toe|Bracket shaped end part of the middle bone of the pinky toe doelkens 2010-06-24T05:04:00Z UMLS:C4022207 human_phenotype owl:Class HP:0410254 biolink:NamedThing Cyclic neutropenia in myeloid maturation arrest in bone marrow Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. hp0009lx5z 2018-10-19 18:52:02+00:00 owl:Class HP:0040289 biolink:NamedThing Cyclic neutropenia Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia). hp0009lx5z CyN owl:Class HP:0012601 biolink:NamedThing Hypochloriduria An decreased concentration of chloride in the urine. hp0009lx5z Decreased urinary chloride|Low urine chloride levels peter 2014-01-16T06:17:06Z UMLS:C4021078 human_phenotype owl:Class HP:0008572 biolink:NamedThing External ear malformation A malformation of the auricle of the ear. hp0009lx5z External ear malformation HP:0008594 UMLS:C1846460 human_phenotype owl:Class HP:0005092 biolink:NamedThing Streaky metaphyseal sclerosis The presence of streaks (bands) of abnormally increased density of metaphyseal bone. hp0009lx5z Streak increase in bone density in wide portion of wide bone UMLS:C4025253 human_phenotype owl:Class HP:0006347 biolink:NamedThing Microdontia of primary teeth Decreased size of the primary teeth. hp0009lx5z Decreased width of deciduous teeth|Microdontia of deciduous teeth|Decreased size of primary tooth|Small deciduous teeth|Decreased width of baby teeth|Decreased width of milk teeth|Decreased width of primary tooth UMLS:C1855694|UMLS:C1856203 human_phenotype owl:Class HP:0032113 biolink:NamedThing Semidominant mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected. hp0009lx5z 2018-11-17 14:33:51+00:00 Familial hypercholesterolemia is an example of a disease with this inheritance pattern. peter owl:Class HP:0040252 biolink:NamedThing Abnormal size of the clitoris hp0009lx5z UMLS:C4280696 owl:Class HP:0032862 biolink:NamedThing Status epilepticus with ictal paresis A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures. hp0009lx5z Focal inhibitory status epilepticus Ictal paresis or inhibitory motor seizures are a relatively rare type of seizure characterized by an inability to initiate or continue movements despite retained awareness, which could last for many hours or even days. These manifest with paresis/paralysis of 1 side of the body (hemiplegia with or without facial involvement) or 1 extremity (upper or lower monoplegia) and are often preceded by other objective or subjective ictal symptoms, which may also occur concomitantly with the paresis or independently. peter owl:Class HP:0000520 biolink:NamedThing Proptosis An eye that is protruding anterior to the plane of the face to a greater extent than is typical. hp0009lx5z Exophthalmos|Prominent globes|Ocular proptosis|Anterior bulging of the globe of eye|Protrusio bulbi|Anterior bulging of the globe|Bulging eye|Eyeballs bulging out|Prominent eyes|Protruding eyes Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. HP:0007870|HP:0000536|HP:0000645|HP:0007711|HP:0000644 UMLS:C0015300|SNOMEDCT_US:18265008|UMLS:C1848490|UMLS:C1837760|UMLS:C1862425|MSH:D005094 human_phenotype owl:Class HP:0005341 biolink:NamedThing Autonomic bladder dysfunction Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. hp0009lx5z UMLS:C4025212 human_phenotype owl:Class HP:0010227 biolink:NamedThing Pseudoepiphysis of the 5th metacarpal The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. hp0009lx5z doelkens 2009-07-02T04:13:20Z UMLS:C4023957 human_phenotype owl:Class HP:0010226 biolink:NamedThing Abnormality of the epiphysis of the 5th metacarpal Any abnormality of the epiphysis of the fifth metacarpal bone. hp0009lx5z Abnormality of the end part of the long bone of pinky finger|Abnormality of the end part of the long bone of pinkie finger|Abnormality of the end part of the long bone of little finger doelkens 2009-07-02T04:13:00Z UMLS:C4023958 human_phenotype owl:Class HP:0005776 biolink:NamedThing Carpal bone malsegmentation hp0009lx5z UMLS:C4025137 human_phenotype owl:Class HP:0100458 biolink:NamedThing Osteolytic defects of the distal phalanx of the 3rd toe hp0009lx5z Osteolytic defects of the outermost bone of the 3rd toe UMLS:C4022069 human_phenotype owl:Class HP:0033493 biolink:NamedThing Mesangial matrix expansion Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. hp0009lx5z Increased glomerular mesangial matrix 2021-01-10 13:15:21+00:00 peter owl:Class HP:0002136 biolink:NamedThing Broad-based gait An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. hp0009lx5z Wide based walk|Wide-based gait|Broad based gait|Wide based gait UMLS:C0856863 human_phenotype owl:Class HP:0009532 biolink:NamedThing Small epiphysis of the proximal phalanx of the 2nd finger hp0009lx5z Small end part of proximal long bond of index finger doelkens 2009-01-16T01:12:34Z UMLS:C4024304 human_phenotype owl:Class HP:0002700 biolink:NamedThing Large foramen magnum An abnormal increase in the size of the foramen magnum. hp0009lx5z Increased circumference of foramen magnum|Big foramen magnum|Hyperplasia of foramen magnum|enlarged foramen magnum|Increased diameter of foramen magnum|Wide foramen magnum|Dilation of foramen magnum UMLS:C4073291|UMLS:C4280555|UMLS:C1844508|UMLS:C4280554 owl:Class HP:0009904 biolink:NamedThing Prominent ear helix Abnormally prominent ear helix. hp0009lx5z Large helix peter 2009-05-01T02:49:39Z UMLS:C4020776|UMLS:C4024165 human_phenotype owl:Class HP:0100677 biolink:NamedThing Vulval varicose vein Varicosity of veins in the vulval region. hp0009lx5z doelkens 2010-12-30T01:36:39Z SNOMEDCT_US:48868008|UMLS:C0155796 human_phenotype owl:Class HP:0001786 biolink:NamedThing Narrow foot A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. hp0009lx5z Slender feet|Narrow foot UMLS:C0576227|SNOMEDCT_US:299464006 human_phenotype owl:Class HP:0006459 biolink:NamedThing Dorsal subluxation of ulna Partial dislocation of the ulna in the dorsal direction. hp0009lx5z UMLS:C1851988 human_phenotype owl:Class HP:0031562 biolink:NamedThing Balanced double aortic arch A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch. hp0009lx5z 2017-09-29 11:31:18+00:00 peter Fyler:2780 owl:Class HP:0033766 biolink:NamedThing Polymelia Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis). hp0009lx5z 2021-04-30 11:21:23+00:00 peter owl:Class HP:0200037 biolink:NamedThing Skin vesicle A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. hp0009lx5z sebastiankohler 2010-06-18T01:58:15Z UMLS:C3814530 human_phenotype owl:Class HP:0031981 biolink:NamedThing Elevated urine glycolate An increased concentration of glycolate in the urine. hp0009lx5z 2018-07-08 13:03:26+00:00 Primary hyperoxaluria type 1 is an inborn error of glyoxalate metabolism characterized by excessive production and urinary excretion of oxalate and glycolate. peter owl:Class HP:0012073 biolink:NamedThing Abnormal urinary acylglycine profile An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. hp0009lx5z N-acylglycines result from glycine conjugation with exogenous compounds to enhance their excretion in urine. Glycine conjugation is also an effective detoxification system for preventing accumulation of acyl-CoA esters in several inherited metabolic disorders. hecht 2012-08-11T09:46:03Z UMLS:C4023057 human_phenotype owl:Class HP:0007601 biolink:NamedThing Midline facial capillary hemangioma hp0009lx5z UMLS:C1840310 human_phenotype owl:Class HP:0009503 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 2nd finger An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket shaped end part of the outermost bone of the index finger doelkens 2009-01-16T01:11:04Z UMLS:C4024327 human_phenotype owl:Class HP:0008074 biolink:NamedThing Metatarsal periosteal thickening hp0009lx5z UMLS:C1834349 human_phenotype owl:Class HP:0410023 biolink:NamedThing Abnormal distribution of cell junction proteins in buccal mucosal cells An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. hp0009lx5z Buccal mucosal cells are harvested from the oral mucosa in the region of the cheek, and can be used as a surrogate tissue to measure cell junction proteins because it is difficult to obtain cells from a tissue of interest such as the myocardium. Cell junction proteins, such as plakoglobin and the major cardiac gap junction protein Cx43 may have an abnormal distribution in diseases such as arrhythmogenic cardiomyopathy. ORCID:0000-0001-5208-3432 owl:Class HP:0031476 biolink:NamedThing Abnormal buccal mucosa cell morphology Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells). hp0009lx5z 2017-09-17 22:04:47+00:00 Buccal mucosa cells are easy to obtain and are a useful model of some other diseases. For instance, muccal mucosa cells from arrhythmogenic cardiomyopathy patients exhibit changes in the distribution of cell junction proteins similar to those seen in the heart. peter owl:Class HP:0032448 biolink:NamedThing Achlorhydria A condition in which production of hydrochloric acid in the stomach is absent. hp0009lx5z 2019-03-03 17:54:51+00:00 Gastric acid is the fluid secreted by the stomach. It is composed of hydrochloric acid, potassium chloride, and sodium chloride. Hydrochloric acid plays an integral part in the digestion of food and protects our body against pathogens ingested with food or water. The parietal cells lining the stomach are mainly involved in its production. peter owl:Class HP:0001645 biolink:NamedThing Sudden cardiac death The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). hp0009lx5z Premature sudden cardiac death|Sudden cardiac death HP:0005161 UMLS:C0085298|MSH:D016757|SNOMEDCT_US:95281009 human_phenotype owl:Class HP:0007117 biolink:NamedThing Corticospinal tract atrophy hp0009lx5z UMLS:C1838868 human_phenotype owl:Class HP:0012099 biolink:NamedThing Abnormality of circulating catecholamine level An abnormal catecholamine concentration in the blood. hp0009lx5z Catecholamine levels abnormal hecht 2012-08-22T08:20:01Z UMLS:C4021102 human_phenotype owl:Class HP:0003484 biolink:NamedThing Upper limb muscle weakness Weakness of the muscles of the arms. hp0009lx5z Decreased arm strength|Weak arm UMLS:C1698196|SNOMEDCT_US:713512009 human_phenotype owl:Class HP:0007126 biolink:NamedThing Proximal amyotrophy Amyotrophy (muscular atrophy) affecting the proximal musculature. hp0009lx5z Proximal muscle wasting|Symmetric proximal muscular atrophy|Proximal muscle atrophy|Wasting of muscles near the body|Symmetrical, proximal limb muscle atrophy|Muscle atrophy, proximal Proximal amyotrophy usually has a roughly symmetric distribution. HP:0008980|HP:0008943|HP:0006792|HP:0009041|HP:0006966 UMLS:C1850794 human_phenotype owl:Class HP:0012105 biolink:NamedThing Occipital cortical atrophy Atrophy of the occipital cortex. hp0009lx5z peter 2012-09-08T02:50:53Z UMLS:C4023040 human_phenotype owl:Class HP:0011737 biolink:NamedThing Corticotropin-releasing hormone deficient adrenal insufficiency Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production. hp0009lx5z Tertiary adrenal insufficiency|CRH deficient adrenal insufficiency peter 2012-04-21T09:09:56Z UMLS:C4021127 human_phenotype owl:Class HP:0032519 biolink:NamedThing Increased Burr cell count Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals. hp0009lx5z 2019-05-26 11:08:57+00:00 peter owl:Class HP:0032585 biolink:NamedThing Renal interstitial eosinophil infiltration Increased numbers of eosinophils in the interstitial tissues of the kidney. hp0009lx5z peter owl:Class HP:0007490 biolink:NamedThing Linear arrays of macular hyperkeratoses in flexural areas hp0009lx5z UMLS:C1866031 human_phenotype owl:Class HP:0100654 biolink:NamedThing Retrobulbar optic neuritis Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. hp0009lx5z Retrobulbar neuritis doelkens 2010-12-30T09:57:09Z UMLS:C0085582|SNOMEDCT_US:230507009|MSH:D009902 human_phenotype owl:Class HP:0045044 biolink:NamedThing Decreased serum complement C4b A reduced level of the complement component C4b in circulation. hp0009lx5z C4b deficiency|Complement component 4B deficiency HPO:skoehler UMLS:C3280641 owl:Class HP:0045042 biolink:NamedThing Decreased serum complement C4 A reduced level of the complement component C4 in the circulation. hp0009lx5z Decreased serum complement C4 level HPO:skoehler UMLS:C4073169 owl:Class HP:0008751 biolink:NamedThing Laryngeal cleft Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus. hp0009lx5z Laryngotracheoesophageal cleft i|Laryngotracheal cleft Embryologically, the trachea and esophagus share a common lumen until they are separated by the development of the tracheoesophageal septum. Failure of this fusion and incomplete development of the tracheoesophageal septum may lead to congenital abnormalities such as isolatedlaryngeal cleft, tracheoesophageal fistula, and esophageal atresia, depending on the severity of the abnormality. Patients with laryngeal cleft may present with feeding difficulty, chronic cough, stridor, pneumonia or respiratory distress, depending on the size of the cleft. MSH:C537875|UMLS:C1840311|SNOMEDCT_US:232461002 human_phenotype owl:Class HP:0007068 biolink:NamedThing Inferior vermis hypoplasia Underdevelopment of the inferior portion of the vermis of cerebellum. hp0009lx5z Hypoplasia of inferior vermis HP:0005724 UMLS:C1855350 human_phenotype owl:Class HP:0009263 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 4th finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. hp0009lx5z Cone-shaped end part of the innermost bone of the ring finger doelkens 2009-01-07T12:12:59Z UMLS:C4024486 human_phenotype owl:Class HP:0031824 biolink:NamedThing Hepatic mastocytosis Liver mast cell infiltration. hp0009lx5z 2018-05-01 02:32:38+00:00 peter owl:Class HP:0012215 biolink:NamedThing Testicular microlithiasis The deposition of calcium phosphate microliths within the seminiferous tubules. hp0009lx5z peter 2013-03-14T08:07:36Z UMLS:C1864873|SNOMEDCT_US:117261000119108|MSH:C566478 human_phenotype owl:Class HP:0011301 biolink:NamedThing Absent foot The total absence of the foot, with no bony elements distal to the tibia or fibula. hp0009lx5z Apodia|Absent foot|Aplasia of the foot hecht 2012-02-11T11:20:59Z UMLS:C0265624|SNOMEDCT_US:371197005 human_phenotype owl:Class HP:0006502 biolink:NamedThing Aplasia/Hypoplasia involving the carpal bones Absence or underdevelopment of the carpal bones. hp0009lx5z Absent/small wrist bones|Absent/underdeveloped wrist bones peter 2008-03-28T06:35:00Z UMLS:C4025033 human_phenotype owl:Class HP:0005605 biolink:NamedThing Large cafe-au-lait macules with irregular margins Large hypermelanotic macules with jagged borders. hp0009lx5z This type of lesionk is observed in McCune Albright syndrome. The cafe-au-lait macules are larger than those seen in neurofibromatosis, and have more irregular borders. The borders of these macules have been compared to the coast of Maine, whereas the cafe-au-lait spots in neurofibromatosis type 1 have been compared to the coast of California. UMLS:C4025174 human_phenotype owl:Class HP:0200134 biolink:NamedThing Epileptic encephalopathy A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. hp0009lx5z Convulsive encephalopathy Seizures alone without any underlying neurologic or medical illness can be the sole cause of encephalopathy. Patients with seizures as a cause or consequence of encephalopathy present with a wide variety of neurologic symptoms from mild reduction or alteration of consciousness to coma. Findings on neurologic exam are often nonfocal, nonspecific, and not predictive of the presence of seizures. Patients may or may not have subtle motor findings accompanying the presentation of encephalopathy. Signs range from very focal findings, such as nystagmus, eye flutter, blinking, and eye deviation to more widespread signs, such as myoclonus, tremulousness, and autonomic instability. sebastiankohler 2013-06-11T04:02:30Z UMLS:C0543888 human_phenotype owl:Class HP:0100196 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 4th toe hp0009lx5z Irregular end part of the innermost bone of the 4th toe doelkens 2010-06-24T04:54:59Z UMLS:C4022225 human_phenotype owl:Class HP:0009899 biolink:NamedThing Prominent crus of helix The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. hp0009lx5z Helix, crus, prominent|Hypertrophic helix crus|Hyperplastic helix crus|Abnormal prominence of the crus of the ear peter 2009-04-30T10:38:06Z UMLS:C4021377 human_phenotype owl:Class HP:0030763 biolink:NamedThing Amniotic Sheet A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion. hp0009lx5z Amniotic shelf UMLS:C4280779 owl:Class HP:0008774 biolink:NamedThing Aplasia/Hypoplasia of the inner ear Aplasia or developmental hypoplasia of the inner ear. hp0009lx5z Absent/underdeveloped inner ear|Absent/small inner ear peter 2008-04-04T05:48:00Z UMLS:C4024625 human_phenotype owl:Class HP:0031085 biolink:NamedThing Decreased prealbumin level A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status. hp0009lx5z 2017-05-29 00:10:33+00:00 peter owl:Class HP:0031252 biolink:NamedThing Dilated left subclavian artery Abnormally increased caliber of the left subclavian artery. hp0009lx5z 2017-08-12 15:38:14+00:00 peter owl:Class HP:0011559 biolink:NamedThing Double inlet to single ventricle with two atrioventricular valves hp0009lx5z peter 2012-04-07T12:02:15Z UMLS:C4023299 human_phenotype owl:Class HP:0005513 biolink:NamedThing Increased megakaryocyte count Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. hp0009lx5z UMLS:C4025187 human_phenotype owl:Class HP:0500072 biolink:NamedThing Absolute eccentric fixation Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. hp0009lx5z 2018-02-26 18:22:07+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0025549 biolink:NamedThing Eccentric visual fixation A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. hp0009lx5z Eccentric fixation 2017-07-09 12:48:35+00:00 A anomaly in which a part of the retina other than the fovea is used for visual fixation. The fovea usually retains its straight ahead orientation. Eccentric fixation may be present under conditions of viewing with one or both eyes. However, it is more easily diagnosed monocularly (especially if the better eye is covered). HPO:probinson owl:Class HP:0410055 biolink:NamedThing Decreased level of erythritol in urine A decrease in the level of erythritol in the urine. hp0009lx5z 2018-01-27 02:15:00+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0007458 biolink:NamedThing Focal hyperextensible skin hp0009lx5z UMLS:C4024870 human_phenotype owl:Class HP:0000974 biolink:NamedThing Hyperextensible skin A condition in which the skin can be stretched beyond normal, and then returns to its initial position. hp0009lx5z Stretchable skin|Hyperelastic skin|Skin hyperelasticity|Skin hyperextensibility Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. HP:0007389|HP:0007493|HP:0007578 UMLS:C0241074 human_phenotype owl:Class HP:0003248 biolink:NamedThing Gonadal tissue inappropriate for external genitalia or chromosomal sex hp0009lx5z UMLS:C1860268 human_phenotype owl:Class HP:0100439 biolink:NamedThing Bullet-shaped proximal phalanx of the 5th toe An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped innermost bone of pinky toe|Bullet-shaped innermost bone of little toe|Bullet-shaped innermost bone of pinkie toe UMLS:C4022088 human_phenotype owl:Class HP:0010385 biolink:NamedThing Bullet-shaped 5th toe phalanx An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped phalanges of the 5th toe|Bullet-shaped bones of the pinkie toe|Bullet-shaped bones of the little toe|Bullet-shaped bones of the pinky toe doelkens 2009-07-16T11:52:18Z UMLS:C4021277 human_phenotype owl:Class HP:0008670 biolink:NamedThing Partial vaginal septum hp0009lx5z UMLS:C0750088 human_phenotype owl:Class HP:0012853 biolink:NamedThing Scrotal hypospadias Hypospadias with location of the urethral meatus in the scrotum. hp0009lx5z hecht 2014-06-08T10:56:11Z SNOMEDCT_US:702462000|UMLS:C2197691 human_phenotype owl:Class HP:0033200 biolink:NamedThing Triceps hyporeflexia Reduced intensity of the triceps tendon reflex. hp0009lx5z Hyporeflexia of triceps 2020-10-11 14:23:20+00:00 peter owl:Class HP:0006881 biolink:NamedThing Diffuse peripheral demyelination A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. hp0009lx5z UMLS:C4024971 human_phenotype owl:Class HP:0033495 biolink:NamedThing Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. hp0009lx5z 2021-01-10 13:21:47+00:00 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). peter owl:Class HP:0000096 biolink:NamedThing Glomerular sclerosis Accumulation of scar tissue within the glomerulus. hp0009lx5z Glomerulosclerosis|Renal glomerular fibrosis HP:0030761 SNOMEDCT_US:197661001|UMLS:C0178664|SNOMEDCT_US:82646005 owl:Class HP:0012013 biolink:NamedThing EEG with temporal focal spike waves EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. hp0009lx5z hecht 2012-07-20T12:01:01Z UMLS:C4023078 human_phenotype owl:Class HP:0005186 biolink:NamedThing Synovial hypertrophy hp0009lx5z SNOMEDCT_US:240206002|MSH:D013585|UMLS:C0410574 human_phenotype owl:Class HP:0011975 biolink:NamedThing Aminoglycoside-induced hearing loss Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics. hp0009lx5z The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth. peter 2012-07-18T08:55:03Z UMLS:C4023100 human_phenotype owl:Class HP:4000010 biolink:NamedThing Impaired renal tubular reabsorption of bicarbonate Decreased renal tubular reabsorption of bicarbonate. hp0009lx5z 2021-04-29 17:27:57+00:00 robinp owl:Class HP:0006143 biolink:NamedThing Abnormal finger flexion creases hp0009lx5z UMLS:C1859481 human_phenotype owl:Class HP:0001475 biolink:NamedThing Male-limited autosomal dominant hp0009lx5z UMLS:C4025764 human_phenotype owl:Class HP:0001470 biolink:NamedThing Sex-limited autosomal dominant hp0009lx5z UMLS:C4025767 human_phenotype owl:Class HP:0006756 biolink:NamedThing Diffuse leiomyomatosis hp0009lx5z UMLS:C4024984 human_phenotype owl:Class HP:0008315 biolink:NamedThing Decreased plasma free carnitine A decreased concentration of free (unbound) carnitine in the blood. hp0009lx5z UMLS:C4015009 human_phenotype owl:Class HP:0004872 biolink:NamedThing Incisional hernia An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. hp0009lx5z Recurrent abdominal hernia UMLS:C0267716|UMLS:C4021645|MSH:D000069290|SNOMEDCT_US:241556001|SNOMEDCT_US:236037000 human_phenotype owl:Class HP:0032987 biolink:NamedThing Elevated bronchoalveolar lavage fluid eosinophil proportion Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced. hp0009lx5z peter owl:Class HP:0031766 biolink:NamedThing Convergence excess esotropia An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio. hp0009lx5z 2018-01-21 14:48:11+00:00 peter owl:Class HP:0020172 biolink:NamedThing Adverse drug response An unpleasant or harmful reaction resulting from treatment with a drug. hp0009lx5z Drug-induced response|Adverse drug reaction|Toxic drug response|Drug-induced reaction robinp 2019-07-06 21:45:45+00:00 owl:Class HP:0025116 biolink:NamedThing Fetal distress An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. hp0009lx5z Foetal distress 2016-11-01 10:13:06+00:00 Fetal distress in itself is a non-specific term as the various parameters characterizing the type and degree of distress are themselves ill defined. Nonethless the term is in broad clinical use and thus is included as an HPO term. It is preferable to annotate with more precise terms if possible. HPO:probinson owl:Class HP:0030682 biolink:NamedThing Left ventricular noncompaction Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. hp0009lx5z UMLS:C1960469 owl:Class HP:0020058 biolink:NamedThing Abnormal red blood cell count Any deviation from the normal number of red blood cells per volume in the circulation. hp0009lx5z Abnormal RBC count 2018-09-28 23:44:47+00:00 robinp owl:Class HP:0012057 biolink:NamedThing Superficial spreading melanoma A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown. hp0009lx5z peter 2012-08-01T02:07:52Z SNOMEDCT_US:254730000|SNOMEDCT_US:55320002|UMLS:C0334438 human_phenotype owl:Class HP:0005416 biolink:NamedThing Decreased serum complement factor B A reduced level of the complement component factor B in circulation. hp0009lx5z Decreased serum factor b UMLS:C4021636 human_phenotype owl:Class HP:4000005 biolink:NamedThing Pericardial late gadolinium enhancement Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium. hp0009lx5z 2021-04-24 14:54:03+00:00 Late gadolinium enhancement in the pericardium may be observed with pericardial inflammation. robinp owl:Class HP:0003566 biolink:NamedThing Increased serum prostaglandin E2 An increased concentration of prostaglandin E2 in the blood. hp0009lx5z Elevated prostaglandin E2 HP:0008298 UMLS:C3150358 human_phenotype owl:Class HP:0011023 biolink:NamedThing Abnormal circulating prostaglandin circulation Any deviation from the normal concentration of a prostaglandin in the blood circulation. hp0009lx5z peter 2011-02-28T09:19:20Z UMLS:C4023589 human_phenotype owl:Class HP:0008090 biolink:NamedThing Ankylosis of feet small joints hp0009lx5z UMLS:C4024732 human_phenotype owl:Class HP:0011831 biolink:NamedThing Deviated nasal tip Nasal tip positioned to one side of the midline. hp0009lx5z Nasal tip, deviated|Deviated tip of nose|Deviated nasal tip|Asymmetry of tip of nose|Crooked tip of nose|Asymmetry of nasal tip|Distortion of the nasal tip|Crooked nasal tip There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip. peter 2012-05-01T07:37:48Z UMLS:C4021114|UMLS:C4280271 human_phenotype owl:Class HP:0025220 biolink:NamedThing Triggered by menstruation Applies to a sign or symptom that is provoked or brought about by menstruation in a female. hp0009lx5z Triggered by period|Triggered by monthly period|Menstruation triggered symptoms 2016-12-10 14:05:58+00:00 HPO:probinson owl:Class HP:0011074 biolink:NamedThing Localized hypoplasia of dental enamel A localized form of developmental hypoplasia of the dental enamel. hp0009lx5z Localised hypoplasia of tooth enamel|Localized hypoplasia of tooth enamel|Localised hypoplasia of dental enamel|Localized dysplasia of tooth enamel|Localised dysplasia of tooth enamel peter 2011-03-10T05:13:09Z UMLS:C4280339|UMLS:C4023550 owl:Class HP:0006297 biolink:NamedThing Enamel hypoplasia Developmental hypoplasia of the dental enamel. hp0009lx5z Enamel dysplasia|Dental enamel hypoplasia|Thin dental enamel|Hypoplasia of tooth enamel|Enamel hypoplasia|Defective enamel matrix|Thin tooth enamel|Hypoplasia of dental enamel|Enamel hypotrophy|Enamel, underdeveloped|Dysplasia of tooth enamel|Underdeveloped teeth enamel Enamel hypoplasia can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Enamel hypoplasia may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypoplasia regroups different clinical aspects: localized hypoplasia, generalized hypoplasia, enamel pits, enamel striae, and grooves defects. The term should be used to describe a quantitative defect of enamel. Enamel hypotrophy cannot be used as hypotrophy indicates loss of cells, whereas enamel is an acellular structure and thus not a tissue. HP:0003770|HP:0001565|HP:0000671 SNOMEDCT_US:699421005|MSH:D003744|UMLS:C0011351|SNOMEDCT_US:699382004|UMLS:C4280457|SNOMEDCT_US:26597004|UMLS:C1851854|UMLS:C4280456 owl:Class HP:0002355 biolink:NamedThing Difficulty walking Reduced ability to walk (ambulate). hp0009lx5z Walking disability|Difficulty walking|Difficulty in walking HP:0009030|HP:0007101 UMLS:C0311394|MSH:D051346|SNOMEDCT_US:228158008 human_phenotype owl:Class HP:0007295 biolink:NamedThing Chaotic rapid conjugate ocular movements hp0009lx5z UMLS:C4024909 human_phenotype owl:Class HP:0040164 biolink:NamedThing Lipomas of eyelids Fatty tumors on the eyelids. hp0009lx5z Fatty tumours on the eyelids|Fatty tumors on the eyelids Eyelid lipomas UMLS:C4073133 owl:Class HP:0001180 biolink:NamedThing Hand oligodactyly A developmental defect resulting in the presence of fewer than the normal number of fingers. hp0009lx5z Hand has less than 5 fingers SNOMEDCT_US:71358006|UMLS:C0728895 human_phenotype owl:Class HP:0007390 biolink:NamedThing Hyperkeratosis with erythema hp0009lx5z UMLS:C4024891 human_phenotype owl:Class HP:0003221 biolink:NamedThing Chromosomal breakage induced by crosslinking agents Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. hp0009lx5z Chromosomal breakage induced by diepoxybutane|Chromosomal breakage induced by mitomycin C Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia. UMLS:C4021737 human_phenotype owl:Class HP:0032341 biolink:NamedThing Reduced forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal inspiration. hp0009lx5z Reduced FVC|Decreased forced vital capacity 2019-02-21 12:48:52+00:00 The threshold for an abnormally low FVC is defined as less than the LLN for adults or less than 80 percent of predicted for those five to 18 years of age, indicating a restrictive pattern. The LLLN (lower limit of normal) is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III). peter owl:Class HP:0009721 biolink:NamedThing Shagreen patch A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather. hp0009lx5z peter 2009-01-31T09:36:32Z UMLS:C0432363|SNOMEDCT_US:254244007 human_phenotype owl:Class HP:0033770 biolink:NamedThing Gastric adenocarcinoma An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia. hp0009lx5z 2021-04-30 14:02:59+00:00 Ninety percent of all tumors of the stomach are malignant, and gastric adenocarcinoma comprises 95% of the total number of malignancies. peter owl:Class HP:0002987 biolink:NamedThing Elbow flexion contracture A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. hp0009lx5z Contracture of elbow joint|Contractures of the elbows|Elbow flexion deformity|Fixed flexion at the elbow joint|Contractures of elbows|Elbow contracture|Elbow contractures|Elbow flexion contractures HP:0003937|HP:0005654|HP:0004984 UMLS:C0409338|SNOMEDCT_US:202271004 human_phenotype owl:Class HP:0012711 biolink:NamedThing Delayed ossification of vertebral epiphysis A delay in the process of formation and maturation of the epiphysis of one or more vertebrae. hp0009lx5z Delayed maturation of the end part of the vertebral bone peter 2014-03-23T12:27:51Z UMLS:C4280312|UMLS:C4022759 human_phenotype owl:Class HP:0006964 biolink:NamedThing Cerebral cortical neurodegeneration hp0009lx5z UMLS:C1859863 human_phenotype owl:Class HP:0010761 biolink:NamedThing Broad columella Increased width of the columella. hp0009lx5z Hyperplasia of columella|Columella, wide|Columella, broad|Increased width of columella|Fullness of columella peter 2010-04-24T11:52:54Z UMLS:C4280365|UMLS:C1851059 human_phenotype owl:Class HP:0032399 biolink:NamedThing Dysgyria with normal cortical thickness An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex. hp0009lx5z 2019-02-24 17:05:51+00:00 peter owl:Class HP:0008986 biolink:NamedThing Agenesis of the diaphragm Congenital lack, i.e., aplasia of the diaphragm. hp0009lx5z Absent diaphragm|Agenesis of diaphragm An extremely large diaphragmatic defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum rather than a distinct entity. SNOMEDCT_US:702613006|UMLS:C0221360|SNOMEDCT_US:72424001 human_phenotype owl:Class HP:0001580 biolink:NamedThing Pigmented micronodular adrenocortical disease hp0009lx5z UMLS:C1968851 human_phenotype owl:Class HP:0000849 biolink:NamedThing Adrenocortical abnormality hp0009lx5z UMLS:C4025820 human_phenotype owl:Class HP:0031420 biolink:NamedThing Small yellow foveal lesion with surrounding gray zone A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity. hp0009lx5z Laser pointer-induced maculopathy|Light induced retinopathy|Solar retinopathy|Photic retinopathy|Small yellow foveal lesion with surrounding grey zone|Laser pointer-induced retinopathy|Solar retinitis 2017-09-12 02:33:25+00:00 peter owl:Class HP:0006568 biolink:NamedThing Increased hepatic glycogen content An increase in the amount of glycogen stored in hepatocytes compared to normal. hp0009lx5z Increased liver glycogen content Glycogen acts as secondary long-term energy storage in the liver and other organs. Its intracellular concentration can be increased in some disease states such as obesity. UMLS:C1856285 human_phenotype owl:Class HP:0500030 biolink:NamedThing Abnormal hepatic glycogen storage Change in normal glycogen storage content. hp0009lx5z 2017-06-01 16:35:52+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0007915 biolink:NamedThing Polymorphous posterior corneal dystrophy This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. hp0009lx5z MSH:C562745|UMLS:C0339284|SNOMEDCT_US:29504002 human_phenotype owl:Class HP:0100221 biolink:NamedThing Small epiphysis of the middle phalanx of the 5th toe hp0009lx5z Small end part of the middle bone of the little toe|Small end part of the middle bone of the pinky toe|Small end part of the middle bone of the pinkie toe doelkens 2010-06-24T05:04:00Z UMLS:C4022200 human_phenotype owl:Class HP:0025437 biolink:NamedThing Macrocephalic sperm head Increased size of the head of sperm. hp0009lx5z 2017-04-23 17:25:02+00:00 HPO:probinson owl:Class HP:0200065 biolink:NamedThing Chorioretinal degeneration hp0009lx5z sebastiankohler 2013-05-31T01:29:16Z HP:0007945|HP:0007912 UMLS:C0521683|SNOMEDCT_US:247177004 human_phenotype owl:Class HP:0001310 biolink:NamedThing Dysmetria A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. hp0009lx5z Abnormal finger-nose-finger test|Abnormal finger chase test|Lack of coordination of movement Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner. MSH:D002524|UMLS:C0234162|SNOMEDCT_US:32566006 human_phenotype owl:Class HP:0011245 biolink:NamedThing Abnormality of superior crus of antihelix An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. hp0009lx5z Abnormality of posterior crus of antihelix The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. peter 2011-12-18T11:52:06Z UMLS:C4021190 human_phenotype owl:Class HP:0005275 biolink:NamedThing Cartilaginous ossification of nose hp0009lx5z Cartilaginous nasal ossification UMLS:C1855616 human_phenotype owl:Class HP:0009464 biolink:NamedThing Ulnar deviation of the 2nd finger Displacement of the 2nd (index) finger towards the ulnar side. hp0009lx5z Ulnar angulation of the index finger|Ulnar deviation of index fingers|Medially deviated index finger|Second finger ulnar deviation doelkens 2009-01-15T09:37:48Z HP:0005811|HP:0004102 UMLS:C1844891 human_phenotype owl:Class HP:0004566 biolink:NamedThing Pear-shaped vertebrae Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. hp0009lx5z Pear-shaped vertebral bodies UMLS:C1866731 human_phenotype owl:Class HP:0011117 biolink:NamedThing Abnormality of interleukin secretion An abnormality in the production or cellular release of interleukins (a class of cytokines). hp0009lx5z Abnormality of IL secretion peter 2011-06-12T09:16:10Z UMLS:C4023530 human_phenotype owl:Class HP:0100465 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 4th toe Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Uneven increase in bone density in the innermost bone of the 4th toe UMLS:C4022062 human_phenotype owl:Class HP:0033257 biolink:NamedThing Delayed ability to walk with support A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage. hp0009lx5z Delayed ability to cruise 2020-11-27 19:39:48+00:00 peter owl:Class HP:0000295 biolink:NamedThing Doll-like facies A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. hp0009lx5z Doll-like facial appearance This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely. UMLS:C1856361 human_phenotype owl:Class HP:0025016 biolink:NamedThing Abnormal capillary morphology A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. hp0009lx5z 2016-08-12 11:42:27+00:00 HPO:probinson owl:Class HP:0005422 biolink:NamedThing Absence of CD8-positive T cells Lack of detectible CD8-positive T cells hp0009lx5z Absence of CD8+ T cells UMLS:C4025197 human_phenotype owl:Class HP:0012690 biolink:NamedThing T2 hypointense thalamus A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus. hp0009lx5z peter 2014-03-22T04:32:50Z UMLS:C4022776 human_phenotype owl:Class HP:0033001 biolink:NamedThing Laryngeal papilloma A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx. hp0009lx5z Laryngeal papillomatosis|Laryngeal papillomas peter owl:Class HP:0000198 biolink:NamedThing Absence of Stensen duct hp0009lx5z Failure of development of parotid duct|Missing stensen duct|Absent stensen duct|Agenesis of stensen duct|Absence of parotid duct|Missing parotid duct|Agenesis of parotid duct|Failure of development of stensen duct UMLS:C1858569|UMLS:C4280674 human_phenotype owl:Class HP:0006582 biolink:NamedThing Reye syndrome-like episodes Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure. hp0009lx5z This feature has been observed in individuals withe mitochondrial DNA depletion syndrome-6 (MTDPS6), also known as Navajo neurohepatopathy [MIM:256810]. UMLS:C1850413 human_phenotype owl:Class HP:0030669 biolink:NamedThing Abnormal ocular adnexa morphology A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. hp0009lx5z UMLS:C4073120 owl:Class HP:0100299 biolink:NamedThing Muscle fiber inclusion bodies hp0009lx5z Muscle fibre inclusion bodies This should have logical def changed to reference a generic muscle fiber but this is not yet in CL. doelkens 2010-08-10T02:21:34Z UMLS:C4022159 human_phenotype owl:Class HP:0030756 biolink:NamedThing Erythrodontia Reddish, brown opalescent discoloration of teeth in normal light. hp0009lx5z Red teeth This feature is characteristic of Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder caused by mutation in the gene that codifies uroporphyrinogen-III synthase, leading to porphyrin accumulation in many tissues. UMLS:C4280783 owl:Class HP:0033507 biolink:NamedThing Decreased esterified to free carnitine ratio A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. hp0009lx5z 2021-01-10 15:13:37+00:00 peter owl:Class HP:0033502 biolink:NamedThing Abnormal esterified to free carnitine ratio Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. hp0009lx5z 2021-01-10 15:09:58+00:00 Carnitine is a nutrient that is made from the amino acids methionine and lysine. Its primary role is to allow the transport of long-chain fatty acids into the mitochondrial matrix for beta-oxidation and energy production. Carnitine is stored in the skeletal muscle, heart, liver, brain, and kidney and within plasma. Carnitine is also found in the body in several different forms. peter owl:Class HP:0003496 biolink:NamedThing Increased circulating IgM level An abnormally increased level of immunoglobulin M in blood. hp0009lx5z Increased levels of IgM|Increased IgM levels HP:0002962 UMLS:C1839972 human_phenotype owl:Class HP:0030354 biolink:NamedThing Abnormal serum interferon level Abnormal levels of interferon in the blood. hp0009lx5z UMLS:C4072898 owl:Class HP:0000935 biolink:NamedThing Thickened cortex of long bones Abnormal thickening of the cortex of long bones. hp0009lx5z Thickened cortices of long bones|Broad cortex of long bones|Cortical thickening of the long bones UMLS:C1840418 human_phenotype owl:Class HP:0025519 biolink:NamedThing Multiple biliary hamartomas Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver. hp0009lx5z Von Meyenburg complexes|Multiple bile duct hamartomas|Biliary hamartoma 2017-05-17 12:34:24+00:00 Multiple biliary hamartomas are part of the wider spectrum of ductal plate malformation where there is congenital malformation of the biliary duct. Multiple biliary hamartomas can be diagnosed using magnetic resonance imaging which shows multiple hyper-intense cystic nodules not communicating with the biliary tree. The diagnosis can be confirmed on liver histology. Multiple biliary hamartomas are usually an incidental finding without symptoms. There have been rare associations with development of cholangiocarcinoma. HPO:probinson owl:Class HP:0032499 biolink:NamedThing Giant neutrophil granules The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation. hp0009lx5z 2019-05-23 22:49:33+00:00 In Chediak Higashi syndrome, stimulus-induced giant granule mobilization is severely reduced, which may contribute to the propensity for severe bacterial infections. peter owl:Class HP:0011962 biolink:NamedThing Obstructive azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. hp0009lx5z peter 2012-07-16T12:25:35Z UMLS:C4023106 human_phenotype owl:Class HP:0002545 biolink:NamedThing Patchy demyelination of subcortical white matter Patchy loss of myelin from nerve fibers in the central nervous system. hp0009lx5z UMLS:C1857638 human_phenotype owl:Class HP:0000041 biolink:NamedThing Chordee Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees. hp0009lx5z The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately. SNOMEDCT_US:4287008|UMLS:C0221182 human_phenotype owl:Class HP:0012048 biolink:NamedThing Oromandibular dystonia A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. hp0009lx5z Cranial dystonia peter 2012-08-01T12:29:50Z HP:0001494 UMLS:C2242577 human_phenotype owl:Class HP:0012533 biolink:NamedThing Allodynia Pain due to a stimulus that does not normally provoke pain. hp0009lx5z peter 2013-12-15T09:47:40Z UMLS:C0458247|SNOMEDCT_US:247404004|MSH:D006930 human_phenotype owl:Class HP:0010284 biolink:NamedThing Intra-oral hyperpigmentation Increased pigmentation, either focal or generalized, of the mucosa of the mouth. hp0009lx5z Pigmented gums|Oral mucosa melanin pigmentation|Dark color of gums|Gingival melanin pigmentation|Dark colour of gums|Oral racial pigmentation|Gingival hyperpigmentation|Hyperpigmentation of oral mucosa Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation. peter 2009-07-12T10:33:11Z UMLS:C0399483|UMLS:C4280389|UMLS:C0877541|UMLS:C4280387|UMLS:C4280388|SNOMEDCT_US:235038002 human_phenotype owl:Class HP:0100784 biolink:NamedThing Peripheral arteriovenous fistula hp0009lx5z doelkens 2011-06-07T06:03:29Z UMLS:C4021971 human_phenotype owl:Class HP:0011688 biolink:NamedThing Supraventricular tachycardia with an accessory connection mediated pathway Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. hp0009lx5z Atrioventricular re-entry tachycardia|Supraventricular tachycardia with an accessory connexion mediated pathway peter 2012-04-10T10:33:56Z UMLS:C4021132 human_phenotype owl:Class HP:0008452 biolink:NamedThing Wafer-thin platyspondyly hp0009lx5z UMLS:C1865124 human_phenotype owl:Class HP:0004565 biolink:NamedThing Severe platyspondyly hp0009lx5z platyspondyly, extreme HP:0004564 UMLS:C1850293 human_phenotype owl:Class HP:0500074 biolink:NamedThing Dissociated vertical deviation An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering. hp0009lx5z 2018-02-26 18:53:08+00:00 Dissociated vertical deviation (DVD) occurs when the level of illumination received by either eye is reduced sufficiently and as a result eye deviates progressively upwards, but reverts to its original position when the level of illumination returns to normally acceptable levels. It may sometimes be so asymmetrical as to be virtually unilateral and is associated with heterotropia usually of early onset. ORCID:0000-0001-7941-2961 owl:Class HP:0001419 biolink:NamedThing X-linked recessive inheritance A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. hp0009lx5z X-linked recessive UMLS:C1845977 human_phenotype owl:Class HP:0007188 biolink:NamedThing Congenital facial diplegia Facial diplegia (that is, bilateral facial palsy) with congenital onset. hp0009lx5z Congenital bilateral facial weakness|Congenital bilateral facial palsy MSH:C531747|UMLS:C0853240 human_phenotype owl:Class HP:0001349 biolink:NamedThing Facial diplegia Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). hp0009lx5z Bilateral facial weakness|Facial paresis, bilateral HP:0007085|HP:0005334 UMLS:C1836003 human_phenotype owl:Class HP:0012588 biolink:NamedThing Steroid-resistant nephrotic syndrome A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. hp0009lx5z SRNS Genetic studies and biopsy are necessary. Treatment depends on result. Genetic forms are treated symptomatically with ACE-inhibitor or angiotensin receptor blockers. Non-genetic forms are usually treated with calcineurin inhibitors. Prognosis is worse than in SSNS. 50 % progress into end-stage renal disease. peter 2014-01-16T03:47:57Z SNOMEDCT_US:236381000|UMLS:C0403397 owl:Class HP:0100279 biolink:NamedThing Ulcerative colitis A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon. hp0009lx5z Colitis ulcerosa doelkens 2010-08-10T09:25:44Z SNOMEDCT_US:64766004|MSH:D003093|UMLS:C0009324 human_phenotype owl:Class HP:0010210 biolink:NamedThing Triangular shaped proximal phalanges of the toes hp0009lx5z Triangular shaped innermost toe bones doelkens 2009-05-29T01:54:18Z UMLS:C4023969 human_phenotype owl:Class HP:0012183 biolink:NamedThing Hyperplastic colonic polyposis Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. hp0009lx5z peter 2013-02-24T09:08:55Z UMLS:C4023010 human_phenotype owl:Class HP:0000395 biolink:NamedThing Prominent antihelix The presence of an abnormally prominent antihelix. hp0009lx5z UMLS:C1845272 human_phenotype owl:Class HP:0004950 biolink:NamedThing Peripheral arterial stenosis Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. hp0009lx5z Peripheral vascular disease|Occlusive vascular disease|Arterial disease of legs|Occlusive arterial disease|Peripheral artery occlusive disease|Peripheral artery disease The ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), is a measure of occlusion of peripheral arteries in the leg. Peripheral arterial stenosis may be observed with atherosclerosis and with increased intima media thickness as seen in diseases such as pseudoxanthoma elasticum. The most common cause of peripheral arterial stenosis in patients over 40 years of age is atherosclerosis. Cerebral and coronary arteries are by definition not included in peripheral artery disease. HP:0005299|HP:0005309|HP:0005296|HP:0005794|HP:0004928|HP:0004973|HP:0005315 MSH:D058729|SNOMEDCT_US:399957001|UMLS:C1704436|SNOMEDCT_US:400047006|MSH:D016491|UMLS:C0085096 human_phenotype owl:Class HP:0032239 biolink:NamedThing Increased circulating band cell count An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2. hp0009lx5z Increased circulating band form neutrophils|Left shift 2019-01-26 17:28:36+00:00 peter owl:Class HP:0033252 biolink:NamedThing Palmar hyperlinearity Exaggerated skin markings (dermatoglyphics) on the palms of the hand. hp0009lx5z 2020-11-27 19:22:53+00:00 peter owl:Class HP:0032287 biolink:NamedThing Ultra-low vision with no light perception Ultra-low vision with complete lack of light and form perception. hp0009lx5z 2019-02-10 13:55:07+00:00 peter owl:Class HP:0009930 biolink:NamedThing Asymmetry of the nares Asymmetry or size difference between the left and right nostril. hp0009lx5z Unequal nostril shape|Uneven nostril shape|Uneven nostril size|Unequal nostril size|Asymmetry of nostrils|Crooked nostrils peter 2009-05-05T07:06:20Z UMLS:C4024157 human_phenotype owl:Class HP:0005303 biolink:NamedThing Aortic arch calcification Calcification, that is, pathological deposition of calcium salts in the arch of aorta. hp0009lx5z UMLS:C1969291 human_phenotype owl:Class HP:0031028 biolink:NamedThing Lactescent serum Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level. hp0009lx5z Plasma lactescence|Milk-like serum 2017-05-27 10:37:46+00:00 The normal range for serum triglycerides can be taken to be 40 to 150 mg per dL (0.45 to 1.69 mmol per L). Lactescent serum can be seen with triglyceride levels of several thousand mg per dL. peter owl:Class HP:0002155 biolink:NamedThing Hypertriglyceridemia An abnormal increase in the level of triglycerides in the blood. hp0009lx5z Increased serum triglycerides|Increased circulating Tg levels|Increased plasma triglycerides|Increased plasma Tg levels|Increased triglycerides HP:0008174|HP:0003082|HP:0008332 UMLS:C1522137 human_phenotype owl:Class HP:0032285 biolink:NamedThing Ultra-low vision with retained light projection Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus. hp0009lx5z 2019-02-10 13:53:42+00:00 peter owl:Class HP:0032160 biolink:NamedThing Cryptococcal meningitis A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis. hp0009lx5z 2018-12-09 12:26:39+00:00 Cryptococcus yeasts are ubiquitous in the environment and are acquired by inhalation. In the immunocompromised host, reactivation of latent disease is believed to be responsible for the subsequent development of cryptococcal disease. For instance, in persons with depletion of CD4+ T cells, the ability of the immune response to adequately contain cryptococcal infection is impaired. peter owl:Class HP:0008263 biolink:NamedThing Thyroid defect in oxidation and organification of iodide hp0009lx5z UMLS:C1848800 human_phenotype owl:Class HP:0032361 biolink:NamedThing Decreased post-bronchodilator forced expiratory flow 25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication. hp0009lx5z Decreased post bronchodilator forced expiratory flow 25-75%|Decreased postbronchodilator forced expiratory flow 25-75%|Decreased post-bronchodilator FEF25-75% 2019-02-23 17:19:17+00:00 peter owl:Class HP:0040167 biolink:NamedThing Facial papilloma hp0009lx5z Facial wart|Facial verruca A very specific feature of Costello Syndrome UMLS:C0343643|SNOMEDCT_US:240533004 owl:Class HP:0005989 biolink:NamedThing Redundant neck skin Excess skin around the neck, often lying in horizontal folds. hp0009lx5z Excess neck skin|Redundant skin folds of neck|Excess skin over the neck|Redundant neck skin|Redundant skin over the neck|Redundant nuchal skin|Excessive nuchal skin With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used. HP:0005993|HP:0005996 UMLS:C1840319 human_phenotype owl:Class HP:0033481 biolink:NamedThing Limited lateral neck flexion Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder. hp0009lx5z 2021-01-09 23:05:12+00:00 peter owl:Class HP:0100483 biolink:NamedThing Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal hp0009lx5z Fused innermost bone of 2nd toe with the 2nd long bone of foot UMLS:C4022048 human_phenotype owl:Class HP:0002848 biolink:NamedThing Decreased specific anti-polysaccharide antibody level The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. hp0009lx5z Low specific anti-polysaccharide antibody titer|Depressed antibody response to polysaccharide antigens|Specific anti-polysaccharide antibody deficiency Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus. UMLS:C4021747 human_phenotype owl:Class HP:0001705 biolink:NamedThing Right ventricular outlet tract obstruction An obstruction to the forward flow of blood in the outflow tract of the right ventricle. hp0009lx5z Right ventricular outlet obstruction MSH:D014694|UMLS:C0035619 human_phenotype owl:Class HP:0012460 biolink:NamedThing Dysmorphic inferior cerebellar vermis A structural anomaly of the inferior portion of the vermis of cerebellum. hp0009lx5z peter 2013-11-24T11:59:06Z UMLS:C4022893 owl:Class HP:0005871 biolink:NamedThing Metaphyseal chondrodysplasia An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. hp0009lx5z The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred. HP:0006377 UMLS:C0265290|SNOMEDCT_US:28681006 human_phenotype owl:Class HP:0031081 biolink:NamedThing Impaired cortisol response to glucagon stimulation test Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test. hp0009lx5z 2017-05-28 23:49:10+00:00 peter owl:Class HP:0031080 biolink:NamedThing Abnormal response to glucagon stimulation test An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH). hp0009lx5z 2017-05-28 23:47:24+00:00 peter owl:Class HP:0003339 biolink:NamedThing Pyrimidine-responsive megaloblastic anemia A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid. hp0009lx5z Anemia corrected by uridylic acid and cytidylic acid|Pyrimidine-responsive megaloblastic anaemia|Anaemia corrected by uridylic acid and cytidylic acid UMLS:C4021731 human_phenotype owl:Class HP:0000267 biolink:NamedThing Cranial asymmetry Asymmetry of the bones of the skull. hp0009lx5z Malformation of cranial vault shape|Abnormality of head shape|Asymmetry of cranium|Cranial vault asymmetry|Uneven head shape|Asymmetry of head|Abnormality of cranium shape|Malformation of head shape|Malformation of cranium shape|Abnormality of cranial vault shape UMLS:C1860245|UMLS:C4280662|UMLS:C4280657|UMLS:C4280658|UMLS:C4280258|UMLS:C4280661|UMLS:C4280660|UMLS:C4280659 human_phenotype owl:Class HP:0002370 biolink:NamedThing Poor coordination hp0009lx5z Poor coordination UMLS:C0563243 human_phenotype owl:Class HP:0007330 biolink:NamedThing Frontal encephalocele hp0009lx5z SNOMEDCT_US:253103006|MSH:D004677|UMLS:C0431289 human_phenotype owl:Class HP:0011544 biolink:NamedThing L-looping of the right ventricle hp0009lx5z peter 2012-04-07T11:20:04Z UMLS:C4023307 human_phenotype owl:Class HP:0045087 biolink:NamedThing Hip joint hypermobility hp0009lx5z owl:Class HP:0008619 biolink:NamedThing Bilateral sensorineural hearing impairment A bilateral form of sensorineural hearing impairment. hp0009lx5z Bilateral sensorineural deafness|Hearing loss, sensorineural, bilateral|Bilateral nerve deafness|Bilateral sensorineural hearing loss HP:0008539|HP:0008585|HP:0008530|HP:0008579 UMLS:C0452138|SNOMEDCT_US:194424005 human_phenotype owl:Class HP:0500006 biolink:NamedThing Urethritis Inflammation of the urethra. hp0009lx5z Urethritis is characterized by discharge, dysuria and/or urethral discomfort but may be asymptomatic. Common etiologies include gonococcal urethritis as well as infection by chlamydia trachomatis, mycoplasma genitalium, ureaplasma urealyticum, trichomonas vaginalis, anaerobes, herpes simplex virus, and adenovirus. owl:Class HP:0040179 biolink:NamedThing Decreased level of platelet-activating factor hp0009lx5z Decreased level of PAF HPO:skoehler UMLS:C4073144 owl:Class HP:0032558 biolink:NamedThing Absent sperm flagella Sperm cells lacking flagella. hp0009lx5z 2019-06-15 00:17:58+00:00 See Figure 1B from PMID:30867909. peter owl:Class HP:0003985 biolink:NamedThing Exostoses of the ulna hp0009lx5z UMLS:C4025464 human_phenotype owl:Class HP:0030551 biolink:NamedThing Visual acuity light perception with projection hp0009lx5z UMLS:C4073025 owl:Class HP:0011454 biolink:NamedThing Abnormality of the malleus An abnormality of the malleus, an ossicle in the middle ear. hp0009lx5z peter 2012-03-19T09:40:02Z UMLS:C4023349 human_phenotype owl:Class HP:0000066 biolink:NamedThing Labial hypoplasia hp0009lx5z Hypoplastic labia|Underdeveloped labia UMLS:C1850325 owl:Class HP:0005623 biolink:NamedThing Absent ossification of calvaria Absent ossification of the calvaria (vault of the skull). hp0009lx5z Absent ossification of skull vault|Absent bone maturation of skullcap UMLS:C4021629 human_phenotype owl:Class HP:0001695 biolink:NamedThing Cardiac arrest An abrupt loss of heart function. hp0009lx5z Heart stops beating SNOMEDCT_US:410429000|UMLS:C0018790|MSH:D006323|SNOMEDCT_US:397829000 human_phenotype owl:Class HP:0011323 biolink:NamedThing Cleft of chin Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. hp0009lx5z Midline defect of chin|Cleft of chin peter 2012-02-25T05:17:03Z UMLS:C1849227 human_phenotype owl:Class HP:0009820 biolink:NamedThing Lower limb peromelia Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. hp0009lx5z doelkens 2009-02-23T05:11:07Z UMLS:C4024196 human_phenotype owl:Class HP:0100009 biolink:NamedThing Intracranial meningioma hp0009lx5z doelkens 2010-05-14T09:29:27Z UMLS:C0349604|MSH:D008579|SNOMEDCT_US:302820008 human_phenotype owl:Class HP:0004014 biolink:NamedThing Broad radial epiphyseal plate Abnormal increase in width of the epiphyseal growth plate of the radius. hp0009lx5z Wide radial epiphyseal plates UMLS:C4021693 human_phenotype owl:Class HP:0012449 biolink:NamedThing Sacroiliac joint synovitis Inflammation of the synovial membrane of the sacroiliac joint. hp0009lx5z peter 2013-11-23T03:54:32Z UMLS:C4022900 human_phenotype owl:Class HP:0000403 biolink:NamedThing Recurrent otitis media Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. hp0009lx5z Frequent otitis media|Multiple episodes of otitis media|Otitis media, recurrent|Susceptibility to otitis media|Recurrent episodes of otitis media|Recurrent middle ear infection HP:0008622|HP:0008623|HP:0008624 UMLS:C0747085 human_phenotype owl:Class HP:0011585 biolink:NamedThing Thoracic ectopia cordis Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum. hp0009lx5z peter 2012-04-08T01:13:18Z UMLS:C4023284 human_phenotype owl:Class HP:0100808 biolink:NamedThing Gastric diverticulum An outpouching of the gastric wall. hp0009lx5z Stomach diverticulum Gastric diverticulum may be asymptomatic or may present with a vague sensation of fullness or discomfort in the upper abdomen, or with acute upper gastrointestinal bleed or perforation. doelkens 2011-06-09T01:43:31Z UMLS:C0038355|SNOMEDCT_US:75198005|MSH:D013273 human_phenotype owl:Class HP:0002550 biolink:NamedThing Absent facial hair Absence of facial hair. hp0009lx5z Absent facial hair UMLS:C1848192 human_phenotype owl:Class HP:0033608 biolink:NamedThing Pulmonary nodule Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging. hp0009lx5z Spot on the lung 2021-01-30 22:05:25+00:00 peter owl:Class HP:0031402 biolink:NamedThing Reduced antigen-specific T cell proliferation Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. hp0009lx5z Impaired cellular adaptive immune response|Impaired activated T cell proliferation|Antigen-specific T cell proliferation defect|Impaired Ag-specific T cell proliferation 2017-09-03 15:31:43+00:00 peter owl:Class HP:0007105 biolink:NamedThing Infantile encephalopathy Encephalopathy with onset in the infantile period. hp0009lx5z HP:0007353|HP:0007309|HP:0006948 UMLS:C1856408 human_phenotype owl:Class HP:0040311 biolink:NamedThing Symmetric polyarthritis Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion. hp0009lx5z In the event that pain is the only symptom, it is difficult to differentiate polyarthritis from the causes of polyarticular joint pain, such as fibromyalgia or osteoarthritis. ORCID:0000-0002-5316-1399 owl:Class HP:0010117 biolink:NamedThing Fragmentation of the epiphyses of the hallux hp0009lx5z Fragmentation of the end part of the big toe bone doelkens 2009-05-29T01:16:38Z UMLS:C4024042 human_phenotype owl:Class HP:0006984 biolink:NamedThing Distal sensory loss of all modalities hp0009lx5z UMLS:C1836527 human_phenotype owl:Class HP:0003409 biolink:NamedThing Distal sensory impairment of all modalities hp0009lx5z Distal sensory loss to all modalities UMLS:C1836527 human_phenotype owl:Class HP:0005571 biolink:NamedThing Increased renal tubular phosphate reabsorption hp0009lx5z Increased percent tubular reabsorption of phosphorus UMLS:C1968910 human_phenotype owl:Class HP:0003066 biolink:NamedThing Limited knee extension Reduced ability to extend (straighten) the knee joint. hp0009lx5z Limited knee extension UMLS:C1844690 owl:Class HP:0004466 biolink:NamedThing Prolonged brainstem auditory evoked potentials hp0009lx5z UMLS:C4025322 human_phenotype owl:Class HP:0010201 biolink:NamedThing Triangular shaped middle phalanges of the toes hp0009lx5z Triangular shaped middle bones of toes doelkens 2009-05-29T01:53:35Z UMLS:C4023972 human_phenotype owl:Class HP:0012250 biolink:NamedThing ST segment depression An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line. hp0009lx5z peter 2013-04-07T08:59:59Z SNOMEDCT_US:26141007|UMLS:C0520887|SNOMEDCT_US:429622005 human_phenotype owl:Class HP:0012249 biolink:NamedThing Abnormal ST segment An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. hp0009lx5z peter 2013-04-07T08:56:46Z UMLS:C4022993 human_phenotype owl:Class HP:0033761 biolink:NamedThing Xanthogranulomatous pyelonephritis Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells. hp0009lx5z 2021-04-30 11:02:02+00:00 Xanthogranulomatous pyelonephritis is an uncommon chronic destructive granulomatous process of renal parenchyma in association with long-term urinary tract obstruction and infection. peter owl:Class HP:0020006 biolink:NamedThing Ciliary body coloboma A coloboma of the ciliary body. hp0009lx5z UMLS:C4072884 owl:Class HP:0100305 biolink:NamedThing Ring fibers Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation. hp0009lx5z Ring fibres doelkens 2010-08-10T02:41:11Z UMLS:C0333770|SNOMEDCT_US:47913008 owl:Class HP:0011524 biolink:NamedThing Iris melanoma Malignant tumor of melanocytes affecting the iris. hp0009lx5z peter 2012-04-06T09:06:41Z UMLS:C0346373|SNOMEDCT_US:255012009|NCIT:C3224 human_phenotype owl:Class HP:0032437 biolink:NamedThing Reduced C-reactive protein level An abnormal decrease of the C-reactive protein level in serum. hp0009lx5z 2019-03-02 15:11:22+00:00 peter owl:Class HP:0031831 biolink:NamedThing Decreased serum zinc A reduced concentration of zinc in the blood. hp0009lx5z 2018-05-04 02:05:49+00:00 peter owl:Class HP:0001741 biolink:NamedThing Phimosis The male foreskin cannot be fully retracted from the head of the penis. hp0009lx5z UMLS:C0345326|SNOMEDCT_US:253854008 owl:Class HP:5000046 biolink:NamedThing Anti-Lrp4 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4). hp0009lx5z Anti-low-density lipoprotein receptor-related protein 4 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0011864 biolink:NamedThing Elevated plasma pyrophosphate An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. hp0009lx5z peter 2012-05-28T06:05:24Z UMLS:C4023157 human_phenotype owl:Class HP:0040235 biolink:NamedThing Leukocyte inclusion bodies The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes. hp0009lx5z Dohle-like leukocyte inclusion bodies|Inclusion bodies in leukocytes This term has been requested and created by members of the BRIDGE consortium UMLS:C4280711 owl:Class HP:0008264 biolink:NamedThing Neutrophil inclusion bodies The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. hp0009lx5z HP:0001932 UMLS:C4021547 human_phenotype owl:Class HP:0004791 biolink:NamedThing Esophageal ulceration Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. hp0009lx5z Oesophagus ulcer|Esophagus ulcer|Oesophagus ulceration UMLS:C0151970|SNOMEDCT_US:30811009 human_phenotype owl:Class HP:0008715 biolink:NamedThing Testicular dysgenesis hp0009lx5z SNOMEDCT_US:253847002|UMLS:C0302885 human_phenotype owl:Class HP:0200044 biolink:NamedThing Porokeratosis A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella. hp0009lx5z sebastiankohler 2010-06-18T11:57:47Z MSH:D017499|UMLS:C0949506|SNOMEDCT_US:80432009 human_phenotype owl:Class HP:0007066 biolink:NamedThing Proximal limb muscle stiffness hp0009lx5z Removed logical definition that used an anonymous class. Requested new term in UBERON: proximal musculature of limb UMLS:C1861460 human_phenotype owl:Class HP:0004719 biolink:NamedThing Hyperechogenic kidneys An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. hp0009lx5z Echogenic kidneys|Increased echogenicity of the renal parenchyma Normal renal parenchyma is similar (isoechoic) or slightly darker (hypoechoic) compared with liver and includes the cortex and medulla. The thickness of the renal cortex is measured from the outer border of the medullary pyramids (yellow line) or from the arcuate arteries to the renal capsule. The medullary pyramids (white arrow) contain fluid in parallel tubules, which is anechoic (black) and appear as regularly spaced dark pools at the inner margin of the parenchyma (arrow). Because fat is echogenic, the central renal sinus appears bright. UMLS:C3275899 owl:Class HP:0100865 biolink:NamedThing Broad ischia Increased width of the ischium, which forms the lower and back part of the hip bone. hp0009lx5z doelkens 2011-11-30T11:09:10Z HP:0008814 UMLS:C1836868 human_phenotype owl:Class HP:0100120 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe. hp0009lx5z Speckled calcifications in of the end part of the middle bone of the 2nd toe doelkens 2010-06-24T10:05:37Z UMLS:C4022301 human_phenotype owl:Class HP:0003982 biolink:NamedThing Aplasia of the ulna Missing ulna bone associated with congenital failure of development. hp0009lx5z Absent ossification/absent ulna|Absent ulnae|Absent ulna UMLS:C2678397 human_phenotype owl:Class HP:0031811 biolink:NamedThing Bilirubinuria Presence of conjugated bilirubin in the urine. hp0009lx5z 2018-04-28 14:54:05+00:00 Bilirubinuria may lead to a dark yellow to orange color of the urine. Conjugated bilirubin is excreted in the urine and thus conjugated hyperbilirubinemia may lead to bilirubinuria. peter owl:Class HP:0032800 biolink:NamedThing Focal aware sensory seizure with vestibular features A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation. hp0009lx5z These seizures involve the parietal cortex, temporo-parieto-occipital junction or parieto-temporal cortex. peter owl:Class HP:0100149 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 3rd toe hp0009lx5z Enlarged end part of the middle bone of the 3rd toe doelkens 2010-06-24T10:24:13Z UMLS:C4022272 human_phenotype owl:Class HP:0009318 biolink:NamedThing Aplasia/Hypoplasia of the 3rd finger A small/hypoplastic or absent/aplastic 3rd (middle) finger. hp0009lx5z Absent/underdeveloped middle finger|Absent/small middle finger doelkens 2009-01-12T11:04:08Z UMLS:C4024446 human_phenotype owl:Class HP:0012226 biolink:NamedThing Ovarian teratoma The presence of a teratoma in the ovary. hp0009lx5z peter 2013-03-30T07:34:29Z NCIT:C3403|UMLS:C0280131|SNOMEDCT_US:716077006 human_phenotype owl:Class HP:0030859 biolink:NamedThing Anti-topoisomerase I antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I. hp0009lx5z Topoisomerase (DNA) I antibody positivity|Top1 antibody positivity Anti-topoisomerase I antibodies are classically associated with interstitial lung disease (ILD) and the diffuse cutaneous form of systemic sclerosis. UMLS:C4280741 owl:Class HP:0012534 biolink:NamedThing Dysesthesia Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. hp0009lx5z Hyperpathia|Hyperalgesia|Dysaesthesia|Dysesthesias peter 2013-12-15T09:59:55Z HP:0031005 MSH:D010292|UMLS:C0392699|SNOMEDCT_US:279079003 owl:Class HP:0006106 biolink:NamedThing Absent trapezoid bone hp0009lx5z UMLS:C1847191 human_phenotype owl:Class HP:0100191 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 4th toe hp0009lx5z Absent end part of the innermost bone of the 4th toe doelkens 2010-06-24T04:54:59Z UMLS:C4022230 human_phenotype owl:Class HP:0033114 biolink:NamedThing Quadruple gallop rhythm A type of gallop rhytm in which both the third and the fourth sounds are present. hp0009lx5z 2020-08-30 12:35:42+00:00 peter owl:Class HP:0005357 biolink:NamedThing Defective B cell differentiation Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. hp0009lx5z UMLS:C1859624 human_phenotype owl:Class HP:0030084 biolink:NamedThing Clinodactyly An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). hp0009lx5z Permanent curving of the finger|Curvature of digit SNOMEDCT_US:17268007|UMLS:C4280304|UMLS:C0265610 owl:Class HP:0012050 biolink:NamedThing Anasarca An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. hp0009lx5z Extreme generalized edema|Extreme generalised oedema peter 2012-08-01T12:53:48Z SNOMEDCT_US:442433009|SNOMEDCT_US:16740003|MSH:D004487|UMLS:C0151603 human_phenotype owl:Class HP:0032106 biolink:NamedThing Conjunctival icterus Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease. hp0009lx5z Scleral icterus|Yellow sclera|Yellow conjunctiva|Yellowing of the whites of the eyes 2018-11-17 13:40:31+00:00 peter owl:Class HP:0003541 biolink:NamedThing Urinary glycosaminoglycan excretion Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. hp0009lx5z UMLS:C4025598 human_phenotype owl:Class HP:0007030 biolink:NamedThing Nonprogressive encephalopathy hp0009lx5z UMLS:C4024950 human_phenotype owl:Class HP:0011215 biolink:NamedThing Hemihypsarrhythmia Hypsarrhythmia occurring in one hemisphere. hp0009lx5z peter 2011-11-29T07:42:18Z UMLS:C4023460 human_phenotype owl:Class HP:0011819 biolink:NamedThing Submucous cleft soft palate A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. hp0009lx5z Partial thickness cleft soft palate|Submucous cleft velum Often, submucous cleft palate is associated with bifid uvula, but this should be coded separately. The muscles of the soft palate may not function properly, leading to speech problems, middle ear disease, and swallowing difficulties. peter 2012-04-29T09:49:02Z UMLS:C4023175 human_phenotype owl:Class HP:0500237 biolink:NamedThing Decreased CSF histidine concentration Abnormally decreased levels of histidine in cerebrospinal fluid. hp0009lx5z Low histidine levels in cerebrospinal fluid 2019-02-25 21:08:33+00:00 owl:Class HP:0010956 biolink:NamedThing Fetal megacystis Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. hp0009lx5z Foetal megacystis Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction. peter 2011-01-18T10:43:58Z MSH:C536139|UMLS:C2931117 human_phenotype owl:Class HP:0010955 biolink:NamedThing Dilatation of the bladder The presence of a dilated urinary bladder. hp0009lx5z peter 2011-01-18T10:42:26Z UMLS:C0549253 human_phenotype owl:Class HP:0500021 biolink:NamedThing Reduced brain gamma-aminobutyric acid level by MRS An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z 2017-05-18 19:29:53+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0100469 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 5th toe Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Uneven increase in bone density in the outermost little toe bone|Uneven increase in bone density in the outermost pinkie toe bone|Uneven increase in bone density in the outermost pinky toe bone UMLS:C4022058 human_phenotype owl:Class HP:0040209 biolink:NamedThing Decreased CSF biopterin level Decreased concentration of biopterin in the cerebrospinal fluid (CSF). hp0009lx5z Low CSF BH4 (tetrahydrobiopterin) PhenoTips:CHum UMLS:C4073157 owl:Class HP:0010388 biolink:NamedThing Patchy sclerosis of 5th toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. hp0009lx5z Uneven increase in bone density in pinky toe bone|Patchy sclerosis of the phalanges of the 5th toe|Uneven increase in bone density in pinkie toe bone|Uneven increase in bone density in little toe bone doelkens 2009-07-16T11:52:18Z UMLS:C4021275 human_phenotype owl:Class HP:0032084 biolink:NamedThing Aortic elastic fiber thinning A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers. hp0009lx5z Aortic elastic fibre thinning 2018-10-14 14:57:36+00:00 A healthy aorta has dense elastic fibers comprising each lamella. This term describes the elastic network as being thinned at each lamella with narrower and more frayed apart elastic fibers. This entity may be associated with an increase in extracellular matrix material in the lamellar unit. The use of an elastic stain is essential to identify this lesion. peter owl:Class HP:0032120 biolink:NamedThing Abnormal peripheral nervous system physiology Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. hp0009lx5z 2018-11-17 16:57:55+00:00 peter owl:Class HP:0410008 biolink:NamedThing Abnormality of the peripheral nervous system Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. hp0009lx5z Abnormality of the peripheral nervous system UMLS:C4073187 owl:Class HP:0009648 biolink:NamedThing Triangular shaped distal phalanx of the thumb Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped outermost bone of the thumb doelkens 2009-01-29T05:19:33Z UMLS:C4024257 human_phenotype owl:Class HP:0010889 biolink:NamedThing Morbus Kienboeck Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum. hp0009lx5z Lunatomalacia|Kienböck's disease|Kienboeck's disease Results most often from a stress-fracture and consecutive devascularisation of the Os lunatum. sdoelken 2010-09-25T11:04:19Z SNOMEDCT_US:84062004|MSH:D010020|UMLS:C0022682|SNOMEDCT_US:360466009|SNOMEDCT_US:367356000 human_phenotype owl:Class HP:0011714 biolink:NamedThing Libman-Sacks lesions Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve. hp0009lx5z Libman-Sacks lesions are y typical manifestation of systemic lupus erythematosus. peter 2012-04-11T10:11:39Z UMLS:C4023221 human_phenotype owl:Class HP:0011482 biolink:NamedThing Abnormal lacrimal gland morphology Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. hp0009lx5z Abnormality of the lacrimal gland peter 2012-04-01T09:35:54Z UMLS:C4023336 human_phenotype owl:Class HP:0032670 biolink:NamedThing Tonic status epilepticus Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal. hp0009lx5z This has most commonly been reported in children with neurocognitive impairment and severe epilepsy, such as Ohtahara syndrome or West syndrome and Lennox-Gastaut syndrome. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. peter owl:Class HP:0032658 biolink:NamedThing Status epilepticus with prominent motor symptoms Status epilepticus with prominent motor signs during the prolonged seizure. hp0009lx5z peter owl:Class HP:0001733 biolink:NamedThing Pancreatitis The presence of inflammation in the pancreas. hp0009lx5z Pancreatic inflammation UMLS:C0030305|MSH:D010195|SNOMEDCT_US:75694006 human_phenotype owl:Class HP:0008664 biolink:NamedThing Urethral sphincter sclerosis hp0009lx5z UMLS:C4024643 human_phenotype owl:Class HP:0005665 biolink:NamedThing Massively thickened long bone cortices Extreme thickening of the cortex of long bones. hp0009lx5z UMLS:C4025160 human_phenotype owl:Class HP:0500265 biolink:NamedThing Increased proportion of CD8-positive, alpha-beta TEMRA T cells An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. hp0009lx5z Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated 2020-05-15 19:32:37+00:00 owl:Class HP:0032614 biolink:NamedThing Renal glomerular amyloid deposition Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. hp0009lx5z peter owl:Class HP:0041046 biolink:NamedThing Increased neutrophil ribosomes An increased number of ribosomes detected in neutrophils. hp0009lx5z owl:Class HP:0007628 biolink:NamedThing Mandibular condyle hypoplasia hp0009lx5z Small condylar neck of mandible|Decreased size of condylar process of mandible|Hypoplasia of condylar neck of mandible|Small mandibular condyle|Hypotrophic condylar process of mandible|Decreased size of mandibular condyle|Hypotrophic mandibular condyle|Hypoplasia of mandibular condyle|Hypoplasia of subcondylar region of mandible|Hypoplasia of condylar head of mandible|Small condylar head of mandible|Hypoplasia of condylar process of mandible UMLS:C4280424|UMLS:C4280427|UMLS:C4280425|SNOMEDCT_US:235120003|UMLS:C4280426|UMLS:C4280428|UMLS:C0399572|UMLS:C4280423 human_phenotype owl:Class HP:0030606 biolink:NamedThing Abnormal OCT-measured macular thickness hp0009lx5z UMLS:C4073076 owl:Class HP:0004751 biolink:NamedThing Paroxysmal ventricular tachycardia Episodes of ventricular tachycardia that have a sudden onset and ending. hp0009lx5z Episodes of ventricular tachycardia HP:0005141 SNOMEDCT_US:66657009|UMLS:C0030591 human_phenotype owl:Class HP:0002616 biolink:NamedThing Aortic root aneurysm An abnormal localized widening (dilatation) of the aortic root. hp0009lx5z Increased aortic root diameter|Bulge in wall of root of large artery that carries blood away from heart|Aortic root dilatation HP:0004750|HP:0005125|HP:0002631 UMLS:C0238669|SNOMEDCT_US:251036003 human_phenotype owl:Class HP:0030833 biolink:NamedThing Neck pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. hp0009lx5z Neck pain MSH:D019547|UMLS:C0007859|SNOMEDCT_US:81680005 owl:Class HP:0008964 biolink:NamedThing Nonprogressive muscular atrophy Muscular atrophy that does not display a progression in severity with time. hp0009lx5z UMLS:C4024611 human_phenotype owl:Class HP:0008078 biolink:NamedThing Thin metatarsal cortices hp0009lx5z UMLS:C1850162 human_phenotype owl:Class HP:0003869 biolink:NamedThing Humeral cortical thinning hp0009lx5z UMLS:C4025541 human_phenotype owl:Class HP:0025527 biolink:NamedThing Serpiginous cutaneous lesion A skin lesion with a snake- or serpent-like distribution. hp0009lx5z Serpiginous eruption 2017-05-18 00:05:10+00:00 HPO:probinson owl:Class HP:0010605 biolink:NamedThing Chalazion A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes. hp0009lx5z Meibomian gland lipogranuloma sandra1 2009-10-27T10:58:24Z SNOMEDCT_US:1482004|MSH:D017043|UMLS:C0007933 human_phenotype owl:Class HP:0033577 biolink:NamedThing In situ pulmonary artery thrombosis Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease. hp0009lx5z 2021-01-24 14:06:23+00:00 peter owl:Class HP:0006564 biolink:NamedThing Fluctuating hepatomegaly Intermittently increased size of the liver. hp0009lx5z UMLS:C1835881 human_phenotype owl:Class HP:0002240 biolink:NamedThing Hepatomegaly Abnormally increased size of the liver. hp0009lx5z Enlarged liver HP:0001393|HP:0001398 SNOMEDCT_US:80515008|MSH:D006529|UMLS:C0019209 human_phenotype owl:Class HP:0004952 biolink:NamedThing Pulmonary arteriovenous fistulas A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed. hp0009lx5z SNOMEDCT_US:111289009|MSH:C562404|UMLS:C0155675 human_phenotype owl:Class HP:0031230 biolink:NamedThing Decreased incisura length The length of the incisura from the upper to lower border is less than that observed in the average population. hp0009lx5z 2017-07-02 13:00:15+00:00 peter owl:Class HP:0002946 biolink:NamedThing Supernumerary vertebrae hp0009lx5z SNOMEDCT_US:87294007|UMLS:C0265681 human_phenotype owl:Class HP:0006394 biolink:NamedThing Limited pronation/supination of forearm A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). hp0009lx5z Limited pronation/supination of forearm UMLS:C1861331 human_phenotype owl:Class HP:0100496 biolink:NamedThing Abnormality of the vitamin B3 metabolism hp0009lx5z Abnormality of the vitamin B3 metabolism Vitamin B3 is also known as nicotinic acid, vitamin PP or Niacin and is one of the forty to eighty essential human nutrients. doelkens 2010-12-17T04:13:00Z UMLS:C4022040 human_phenotype owl:Class HP:0010930 biolink:NamedThing Abnormal blood monovalent inorganic cation concentration An abnormality of monovalent inorganic cation homeostasis. hp0009lx5z Abnormality of monovalent inorganic cation homeostasis peter 2011-01-06T10:38:38Z UMLS:C4023645 human_phenotype owl:Class HP:0012331 biolink:NamedThing Abnormal autonomic nervous system morphology A structural abnormality of the autonomic nervous system. hp0009lx5z peter 2013-09-13T07:52:31Z UMLS:C4022953 human_phenotype owl:Class HP:0005211 biolink:NamedThing Midgut malrotation hp0009lx5z UMLS:C1849706 human_phenotype owl:Class HP:0012894 biolink:NamedThing Paraspinal muscle hypertrophy Muscle hypertrophy affecting the paraspinal muscles. hp0009lx5z peter 2014-06-23T10:59:48Z UMLS:C4022689 human_phenotype owl:Class HP:0003081 biolink:NamedThing Increased urinary potassium An increased concentration of potassium(1+) in the urine. hp0009lx5z Increased urinary K|Increased urinary potassium|Hyperkaliuresis UMLS:C1846351 human_phenotype owl:Class HP:0025510 biolink:NamedThing Nevus spilus A tan, regularly bordered patch with darker macules within the lesion. hp0009lx5z Speckled lentiginous Nevus 2017-05-15 00:49:05+00:00 HPO:probinson owl:Class HP:0011147 biolink:NamedThing Typical absence seizure A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. hp0009lx5z Typical absence|Typical absence seizures In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. peter 2011-10-18T01:52:22Z SNOMEDCT_US:432241000124101|UMLS:C0014553|MSH:D004832|SNOMEDCT_US:79631006|SNOMEDCT_US:50866000|SNOMEDCT_US:230413002 owl:Class HP:0000846 biolink:NamedThing Adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. hp0009lx5z Hypoadrenalism Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. HP:0008218|HP:0000865 MSH:D000309|SNOMEDCT_US:111563005|SNOMEDCT_US:237785004|SNOMEDCT_US:386584007|UMLS:C0001623 human_phenotype owl:Class HP:0033961 biolink:NamedThing Cortical radial artery intima/media multilamellation Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. hp0009lx5z Multilamellation (onion skinning) within interlobular arterial intima/media|Cortical radial artery intima/media onion skinning 2021-06-24 12:38:03+00:00 peter owl:Class HP:0100604 biolink:NamedThing Neoplasm of the lip A tumor (abnormal growth of tissue) of the lip. hp0009lx5z Lip tumor|Tumor of the lip|Lip tumour|Tumour of the lip|Neoplasia of the lip doelkens 2010-12-27T05:46:46Z UMLS:C0023761|MSH:D008048|UMLS:C4020706|SNOMEDCT_US:126770008|NCIT:C3262 human_phenotype owl:Class HP:0010406 biolink:NamedThing Bullet-shaped middle phalanx of the 2nd toe An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped middle bone of 2nd toe doelkens 2009-07-16T12:43:52Z UMLS:C4023849 human_phenotype owl:Class HP:0010349 biolink:NamedThing Bullet-shaped 2nd toe phalanx An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped bones of the 2nd toe|Bullet-shaped phalanges of the 2nd toe doelkens 2009-07-16T11:45:34Z UMLS:C4021289 human_phenotype owl:Class HP:0003870 biolink:NamedThing Crumpled humerus hp0009lx5z Crumpled long bone in upper arm HP:0003873 UMLS:C4025540 human_phenotype owl:Class HP:0001104 biolink:NamedThing Macular hypoplasia Underdevelopment of the macula lutea. hp0009lx5z UMLS:C1849412 human_phenotype owl:Class HP:0008059 biolink:NamedThing Aplasia/Hypoplasia of the macula hp0009lx5z Absent/underdeveloped macula peter 2008-04-02T03:29:00Z UMLS:C4024742 human_phenotype owl:Class HP:0003864 biolink:NamedThing Bifid humerus Clefting affecting the humerus. hp0009lx5z Notched long bone in upper arm UMLS:C4025545 human_phenotype owl:Class HP:0040296 biolink:NamedThing Abnormal location of the eyebrow hp0009lx5z Abnormal location of eyebrows|Abnormally placed eyebrows owl:Class HP:0001055 biolink:NamedThing Erysipelas Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. hp0009lx5z St. Anthony's Fire UMLS:C0014733|SNOMEDCT_US:44653001|MSH:D004881|UMLS:C0014714|MSH:D004886|SNOMEDCT_US:51510002|MEDDRA:10015145 human_phenotype owl:Class HP:0009900 biolink:NamedThing Unilateral deafness A unilateral absence of sensory perception of sound. hp0009lx5z Deafness, unilateral|Deafness in one ear Deafness affecting only one ear. peter 2009-04-30T10:42:23Z UMLS:C2607947|MSH:D046088|SNOMEDCT_US:162342008 human_phenotype owl:Class HP:0410317 biolink:NamedThing Increased urinary 3-methylhistidine Increased concentration of 3-methylhistidine in the urine. hp0009lx5z 3-Methylhistidinuria owl:Class HP:0410316 biolink:NamedThing Abnormal urinary 3-methylhistidine level Abnormal amount of 3-methylhistidine in the urine. hp0009lx5z 3-Methylhistidine is an analog of histidine found mainly in skeletal muscle. The rate of myofibrillar protein breakdown may be estimated from the urinary excretion of 3-methylhistidine. This amino acid is formed by the methylation of peptide-bound histidine in actin and myosin, is excreted in the urine when these proteins are broken down, and is not reused for protein synthesis. owl:Class HP:0030793 biolink:NamedThing Jaw swelling Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible). hp0009lx5z UMLS:C4280766 owl:Class HP:0005259 biolink:NamedThing Abnormal facility in opposing the shoulders hp0009lx5z UMLS:C1861517 owl:Class HP:0009321 biolink:NamedThing Absent epiphysis of the middle phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger. hp0009lx5z Absent end part of the middle bone of the middle finger doelkens 2009-01-12T11:15:44Z UMLS:C4024444 human_phenotype owl:Class HP:0007704 biolink:NamedThing Paroxysmal involuntary eye movements Sudden-onset episode of abnormal, involuntary eye movements. hp0009lx5z Abnormal eye movements, paroxysmal UMLS:C1847515 human_phenotype owl:Class HP:0031177 biolink:NamedThing Finger flexor weakness Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. hp0009lx5z 2017-06-18 20:25:24+00:00 peter owl:Class HP:0030237 biolink:NamedThing Hand muscle weakness Reduced strength of the musculature of the hand. hp0009lx5z Hand muscle weakness SNOMEDCT_US:298283006|UMLS:C0239831 owl:Class HP:0032576 biolink:NamedThing Intracellular accumulation of Dol-PP-GlcNAc2Man5 Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol. hp0009lx5z Intracellular accumulation of Dol-PP-GlcNAc2Man5 can result from a defect in ALG3, which encodes a mannosyltransferase that transfers mannose from dolichyl phosphate mannose. The accumulation can be measured in fibroblasts. During protein N-glycosylation, glycans from lipid-linked oligosaccharides (LLOs) are transferred onto asparagine residues located in N-glycosylation sequons. The synthesis of LLO comprises three steps: It begins with the biosynthesis of the intermediate Dol-PP-GlcNAc2Man5, which occurs on the cytoplasmic side of the endoplasmic reticulum (ER). The second step is the flipping of this intermediate to the luminal side of the ER. The third step comprises the glycan extension in the ER lumen, yielding Dol-PP-GlcNAc2Man9. peter owl:Class HP:0030072 biolink:NamedThing Paranasal sinus neoplasm A tumor that originates in the paranasal sinus. hp0009lx5z Tumor of the paranasal sinuses|Tumour of the paranasal sinuses|Neoplasm of the paranasal sinuses SNOMEDCT_US:126675008|NCIT:C3262|MSH:D010255|UMLS:C0030470 owl:Class HP:0005565 biolink:NamedThing Reduced renal corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. hp0009lx5z Loss of definition of corticomedullary differentiation HP:0005573 UMLS:C3807131 human_phenotype owl:Class HP:0010454 biolink:NamedThing Acetabular spurs The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. hp0009lx5z peter 2009-09-14T11:15:40Z UMLS:C3808270 human_phenotype owl:Class HP:0410220 biolink:NamedThing Increased anti-dairy protein IgE antibody level Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products. hp0009lx5z Increased anti-dairy IgE antibody level 2018-10-03 16:47:11+00:00 owl:Class HP:0030733 biolink:NamedThing Vesicoallantoic abdominal wall defect An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst. hp0009lx5z UMLS:C4280796 owl:Class HP:0010798 biolink:NamedThing Lip freckle Increased focal pigmentation of the vermilion of the lips. hp0009lx5z Ephelis of lip|Lip freckle|Lip lentigo|Labial lentigo Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin. peter 2010-06-26T01:59:19Z SNOMEDCT_US:239136007|UMLS:C0406814 human_phenotype owl:Class HP:0100905 biolink:NamedThing Sclerosis of the middle phalanx of the 3rd finger hp0009lx5z Increased bone density in the middle bone of the middle finger UMLS:C4021937 human_phenotype owl:Class HP:0011081 biolink:NamedThing Incisor macrodontia Increased size of the incisor tooth. hp0009lx5z Hyperplasia of incisor|Large incisor|Increased width of incisor|Hypertrophy of incisor|Increased size of incisor peter 2011-03-11T10:39:44Z UMLS:C4280337|UMLS:C4023544 human_phenotype owl:Class HP:0030805 biolink:NamedThing Absent lunula Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail. hp0009lx5z Lunula absent|Lunulae absent|Absent lunulae UMLS:C4280758 owl:Class HP:0033442 biolink:NamedThing Elevated circulating glutarylcarnitine concentration Increased concentration of glutarylcarnitine in the blood circulation. hp0009lx5z Elevated circulating O-glutarylcarnitine concentration|Elevated plasma glutarylcarnitine, C5-DC 2021-01-09 18:45:58+00:00 peter owl:Class HP:0030521 biolink:NamedThing Bitemporal hemianopia hp0009lx5z SNOMEDCT_US:61917005|UMLS:C0221184|MSH:D006423 owl:Class HP:0011822 biolink:NamedThing Broad chin Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. hp0009lx5z Wide chin|Increased width of chin|Increased width of menton region|Broad chin peter 2012-04-30T08:23:35Z UMLS:C4023172 human_phenotype owl:Class HP:0008991 biolink:NamedThing Exercise-induced leg cramps Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion. hp0009lx5z UMLS:C4024607 human_phenotype owl:Class HP:0003710 biolink:NamedThing Exercise-induced muscle cramps Sudden and involuntary contractions of one or more muscles brought on by physical exertion. hp0009lx5z Exercise-induced muscle cramping|Muscle cramps with exertion|Muscle cramps following exercise|Exercise-induced muscle cramps|Muscle cramps on exertion|Muscle cramps on exercise HP:0009000|HP:0008983 UMLS:C1855578 human_phenotype owl:Class HP:0041231 biolink:NamedThing Fractured metatarsal bone of digit 1 A partial or complete breakage of the metatarsal bone of digit 1. hp0009lx5z bone metatarsal bone of digit 1 owl:Class HP:0020221 biolink:NamedThing Clonic seizure A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. hp0009lx5z This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding clonic seizures when the onset is not known. robinp 2020-02-24 15:50:52+00:00 owl:Class HP:0012188 biolink:NamedThing Hyperemesis gravidarum Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight. hp0009lx5z peter 2013-02-24T09:58:18Z UMLS:C0020450|MSH:D006939|SNOMEDCT_US:14094001 human_phenotype owl:Class HP:0011221 biolink:NamedThing Vertical forehead creases Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest. hp0009lx5z Vertical forehead wrinkles|Vertical forehead creases|Frontal creases of face|Vertical forehead rhytids peter 2011-12-07T09:55:15Z UMLS:C4023456 human_phenotype owl:Class HP:0009824 biolink:NamedThing Upper limb undergrowth Arm shortening because of underdevelopment of one or more bones of the upper extremity. hp0009lx5z Short arms|Hypoplasia involving bones of the upper limbs|Upper limb undergrowth|Shortening of the arms doelkens 2009-02-23T05:13:20Z HP:0003056|HP:0006364 UMLS:C1837406 human_phenotype owl:Class HP:0008542 biolink:NamedThing Low-frequency hearing loss A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz). hp0009lx5z Low-frequency hearing loss SNOMEDCT_US:42538001|UMLS:C0271514 human_phenotype owl:Class HP:0006009 biolink:NamedThing Broad phalanx Increased side-to-side width of one or more phalanges of the fingers or toes. hp0009lx5z Broad phalanges|Wide phalanges|Widened phalanges|Wide digital bones HP:0006249|HP:0006030 UMLS:C1855185 human_phenotype owl:Class HP:0025169 biolink:NamedThing Left ventricular systolic dysfunction Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. hp0009lx5z 2016-12-04 14:07:53+00:00 HPO:probinson owl:Class HP:0032394 biolink:NamedThing Mesial parasagittal subcortical heterotopia Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia. hp0009lx5z 2019-02-24 16:07:29+00:00 This pattern is assocatied with Chudlely-McCullough syndrome. peter owl:Class HP:0033105 biolink:NamedThing Interhypothalamic Adhesion An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle. hp0009lx5z Hypothalamic adhesion 2020-08-29 11:25:49+00:00 The appearance of the interhypothalamic adhesions visible in the sagittal plane as an additional small ovoid structure between the fornices and lamina terminalis, centered near the level of the midbrain cranial margin. Anatomically, this location corresponds to the anterior and tuberalis regions of the periventricular hypothalamus. peter owl:Class HP:0006282 biolink:NamedThing Generalized hypoplasia of dental enamel A generalized form of developmental hypoplasia of the dental enamel. hp0009lx5z Generalized dysplasia of tooth enamel|Generalised dysplasia of tooth enamel|Generalised hypoplasia of dental enamel|Generalised hypoplasia of tooth enamel|Generalized hypoplasia of tooth enamel UMLS:C4280462|UMLS:C4025070 owl:Class HP:0008285 biolink:NamedThing Transient hypophosphatemia hp0009lx5z UMLS:C4024709 human_phenotype owl:Class HP:0010047 biolink:NamedThing Short 5th metacarpal Short fifth metacarpal bone. hp0009lx5z Hypoplastic 5th metacarpal|Short fifth metacarpal|Short fifth metacarpals|Shortened 5th long bone of hand|Fifth metacarpal hypoplasia doelkens 2009-05-27T04:37:44Z HP:0006222|HP:0005737|HP:0006004 UMLS:C1861388 human_phenotype owl:Class HP:0032724 biolink:NamedThing Focal impaired awareness tonic seizure A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0012026 biolink:NamedThing Hyperornithinemia Increased concentration of ornithine in the blood. hp0009lx5z High blood ornithine levels peter 2012-07-26T10:49:54Z MSH:D015799|SNOMEDCT_US:276426004|SNOMEDCT_US:33985005|UMLS:C0599035 human_phenotype owl:Class HP:0004044 biolink:NamedThing Pointed ulnar metaphysis hp0009lx5z UMLS:C4025420 human_phenotype owl:Class HP:0200068 biolink:NamedThing Nonprogressive visual loss hp0009lx5z Decreased visual acuity, nonprogressive sebastiankohler 2013-05-31T01:36:51Z UMLS:C3553696|UMLS:C4021893 human_phenotype owl:Class HP:0010142 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the hallux hp0009lx5z Fragmentation of the end part of the outermost bone of the big toe doelkens 2009-05-29T01:22:47Z UMLS:C4024017 human_phenotype owl:Class HP:0012876 biolink:NamedThing Premature ejaculation The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration. hp0009lx5z Premature ejaculation hecht 2014-06-09T11:24:37Z UMLS:C0033038|SNOMEDCT_US:44001008|MSH:D061686 human_phenotype owl:Class HP:0033369 biolink:NamedThing Cavitating leukodystrophy A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity. hp0009lx5z 2020-12-16 12:10:16+00:00 peter owl:Class HP:0009031 biolink:NamedThing Amyotrophy of ankle musculature Atrophy of the muscles of the ankle. hp0009lx5z UMLS:C4024604 human_phenotype owl:Class HP:0011741 biolink:NamedThing Secondary hyperaldosteronism A form of hyperaldosteronism caused by abnormally increased renin levels. hp0009lx5z Hyperreninemic hyperaldosteronism peter 2012-04-21T09:32:28Z UMLS:C0271728|SNOMEDCT_US:67805000 human_phenotype owl:Class HP:0000859 biolink:NamedThing Hyperaldosteronism Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. hp0009lx5z Increased aldosterone production|Mineralocorticoid excess|Increased aldosterone|Elevated plasma aldosterone HP:0004318|HP:0005975 UMLS:C0020428|MSH:D006929|SNOMEDCT_US:88213004 human_phenotype owl:Class HP:0005961 biolink:NamedThing Hypoargininemia A decreased concentration of arginine in the blood. hp0009lx5z Low blood arginine levels|Arginine deficiency UMLS:C4025095|UMLS:C1859735 human_phenotype owl:Class HP:0008095 biolink:NamedThing Osteolysis of talus Osteolysis affecting the talus. hp0009lx5z Osteolysis of tali UMLS:C4021556 human_phenotype owl:Class HP:0010592 biolink:NamedThing Abnormality of the distal tibial epiphysis hp0009lx5z Abnormality of the end part of outermost shinbone|Abnormality of the end part of outermost shankbone sandra1 2009-10-22T03:03:04Z UMLS:C4023781 human_phenotype owl:Class HP:0005645 biolink:NamedThing Intervertebral disk calcification The presence of abnormal calcium deposition of the intervertebral disk. hp0009lx5z Multiple intervertebral disc calcifications|Intervertebral disc calcification|Multiple intervertebral disk calcifications SNOMEDCT_US:240211000|UMLS:C0410607 human_phenotype owl:Class HP:0031591 biolink:NamedThing Enlarged Eustachian valve An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava. hp0009lx5z Giant Eustachian valve|Enlarged inferior vena cava valve 2017-10-15 12:51:38+00:00 During fetal life, the eustachian valve directs oxygen-rich blood from the inferior vena cava (IVC) toward the foramen ovale and away from the tricuspid valve. After the closure of the foramen ovale, it does not have a specific function. In echocardiographic examinations, the eustachian valve may appear as a thin flap originating from the orifice of the IVC, or it may be totally absent. Sometimes it may appear as a rigid, elongated structure in the inferior portion of the right atrium or as a membranous, undulating, echogenic mass within the right atrial cavity. peter owl:Class HP:0100829 biolink:NamedThing Galactorrhea Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. hp0009lx5z Galactorrhoea|Spontaneous milk flow from breast doelkens 2011-06-09T05:39:15Z UMLS:C3665358|MSH:D005687 human_phenotype owl:Class HP:0031952 biolink:NamedThing Neurogenic claudication Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine. hp0009lx5z 2018-07-07 13:44:53+00:00 peter owl:Class HP:0010215 biolink:NamedThing Contractures of the metatarsophalangeal joint of the hallux The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively. hp0009lx5z doelkens 2009-06-02T01:45:34Z UMLS:C4023966 human_phenotype owl:Class HP:0025202 biolink:NamedThing Elevated circulating apolipoprotein A-IV concentration An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II. hp0009lx5z Elevated apolipoprotein A-IV level 2016-12-10 12:56:05+00:00 HPO:probinson owl:Class HP:0031175 biolink:NamedThing Absent cervical vertebra A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine. hp0009lx5z 2017-06-18 20:20:43+00:00 peter owl:Class HP:0030528 biolink:NamedThing Paracentral scotoma hp0009lx5z MSH:D012607|UMLS:C0271197|SNOMEDCT_US:64418005 owl:Class HP:0002501 biolink:NamedThing Spasticity of pharyngeal muscles hp0009lx5z UMLS:C1853398 human_phenotype owl:Class HP:0030213 biolink:NamedThing Emotional blunting Lack of emotional reactivity and empathy for situations or persons, sometime also for family members. hp0009lx5z SNOMEDCT_US:6140007|UMLS:C0233469 owl:Class HP:0045074 biolink:NamedThing Thin eyebrow Decreased diameter of eyebrow hairs. hp0009lx5z Thin eyebrows|Thin eyebrow HPO:skoehler owl:Class HP:0006107 biolink:NamedThing Fingerpad telangiectases Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. hp0009lx5z Finger pad telangiectases|Small dilated blood vessels in fingerpads HP:0006246 UMLS:C1861248 human_phenotype owl:Class HP:0007964 biolink:NamedThing Degenerative vitreoretinopathy hp0009lx5z UMLS:C1843486 human_phenotype owl:Class HP:0002876 biolink:NamedThing Episodic tachypnea Episodes of very rapid breathing. hp0009lx5z Hyperpnea, episodic HP:0002881 UMLS:C3806218 human_phenotype owl:Class HP:0002789 biolink:NamedThing Tachypnea Very rapid breathing. hp0009lx5z Increased respiratory rate or depth of breathing|Polypnea In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute. HP:0004346|HP:0002874 UMLS:C0231835|MSH:D059246|SNOMEDCT_US:271823003 owl:Class HP:0031803 biolink:NamedThing Fundus hemorrhage Bleeding within the fundus of the eye. hp0009lx5z Fundus haemorrhage 2018-03-07 15:30:14+00:00 peter owl:Class HP:0033900 biolink:NamedThing Renal arteriole intima/media amyloidosis Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. hp0009lx5z Amyloidosis within renal arteriolar intima/media 2021-06-23 22:28:09+00:00 peter owl:Class HP:0033618 biolink:NamedThing Displaced lobar tracheal bronchus Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus. hp0009lx5z Pig bronchus|Bronchus suis 2021-01-30 22:35:48+00:00 peter owl:Class HP:0012828 biolink:NamedThing Severe Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. hp0009lx5z Severe PATO:0000396, severe. peter 2014-06-06T07:03:17Z SNOMEDCT_US:24484000|UMLS:C0205082 human_phenotype owl:Class HP:0410067 biolink:NamedThing Increased level of L-fucose in urine An increase in the level of L-fucose in the urine. hp0009lx5z 2018-01-29 22:55:21+00:00 Fucose is a hexose deoxy sugar with the chemical formula C6H12O5. ORCID:0000-0001-5208-3432 owl:Class HP:0032772 biolink:NamedThing Focal impaired awareness autonomic seizure with piloerection A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0003851 biolink:NamedThing Lytic defects in metaphyses of the upper limbs hp0009lx5z UMLS:C4025554 human_phenotype owl:Class HP:0031250 biolink:NamedThing Lip fissure A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation. hp0009lx5z 2017-08-12 15:27:51+00:00 peter owl:Class HP:0011648 biolink:NamedThing Patent ductus arteriosus after birth at term Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. hp0009lx5z peter 2012-04-09T09:58:35Z UMLS:C4023249 human_phenotype owl:Class HP:0001994 biolink:NamedThing Renal Fanconi syndrome An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. hp0009lx5z 'de toni-fanconi-debre' syndrome|Renal tubular fanconi syndrome UMLS:C0341703|SNOMEDCT_US:44673006|MSH:D005198|SNOMEDCT_US:236468006 human_phenotype owl:Class HP:0031297 biolink:NamedThing Unroofed coronary sinus Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion. hp0009lx5z 2017-08-13 21:44:35+00:00 peter owl:Class HP:0001631 biolink:NamedThing Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. hp0009lx5z Hole in heart wall separating two upper heart chambers|Atria septal defect|Defect in the atrial septum|An opening in the wall separating the top two chambers of the heart|ASD|Atrial septum defect|Atrioseptal defect HP:0001630 ICD-10:Q21.1|SNOMEDCT_US:253366007|UMLS:C0018817|SNOMEDCT_US:70142008|SNOMEDCT_US:405752007|MSH:D006344|Fyler:2050 owl:Class HP:0040293 biolink:NamedThing Right hemiplegia hp0009lx5z Hemiplegia (right) owl:Class HP:0100173 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 4th toe hp0009lx5z Fragmentation of the end part of the outermost bone of the 4th toe doelkens 2010-06-24T04:53:36Z UMLS:C4022248 human_phenotype owl:Class HP:0032714 biolink:NamedThing Focal impaired awareness bilateral motor seizure A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0008327 biolink:NamedThing Microscopic nephrocalcinosis The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. hp0009lx5z The qualifier microscopic is used to indicate that the nephrocalcinosis cannot be observed on visual or radiologic examination without further magnification (as can macroscopic nephrocalcinosis). SNOMEDCT_US:236444003|UMLS:C0403474 human_phenotype owl:Class HP:0030959 biolink:NamedThing Muscular ventricular septal aneurysm Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). hp0009lx5z Aneurysm of the muscular ventricular septum 2017-03-17 20:22:16+00:00 Aneurysm of the muscular interventricular septum is a rare entity compared to aneurysms of the membranous part. The majority of cases are due to a previous history of myocardial infarction or VSD closure. Muscular interventricular septal aneurysm can arise from the basal, mid or apical part. robinp owl:Class HP:0030587 biolink:NamedThing Abnormal Hardy-Rand-Rittler plate test hp0009lx5z UMLS:C4073060 owl:Class HP:0006992 biolink:NamedThing Anterior basal encephalocele hp0009lx5z UMLS:C1850961 human_phenotype owl:Class HP:0009684 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the thumb The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb. hp0009lx5z Speckled calcifications in the end part of the outermost thumb bone doelkens 2009-01-30T09:18:09Z UMLS:C4024235 human_phenotype owl:Class HP:0001466 biolink:NamedThing Contiguous gene syndrome hp0009lx5z UMLS:C1855496 human_phenotype owl:Class HP:0003334 biolink:NamedThing Elevated circulating catecholamine level An abnormal increase in catecholamine concentration in the blood. hp0009lx5z Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma. UMLS:C4025629 human_phenotype owl:Class HP:0006384 biolink:NamedThing Club-shaped distal femur An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. hp0009lx5z Club-shaped distal femora|Club-shaped outermost end of thighbone previous def: 'has part' some (clavate and ('inheres in' some 'Distal end of femur (adult human)') and ('has modifier' some abnormal)) HP:0006447 UMLS:C1857505 owl:Class HP:0025247 biolink:NamedThing Dermoid cyst A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. hp0009lx5z 2016-12-17 13:49:23+00:00 HPO:probinson owl:Class HP:0033032 biolink:NamedThing Triggered by an abusive adult Applies to a sign or symptom that is induced by an abusive adult (usually a parent). hp0009lx5z Munchausen syndrome by proxy Munchausen syndrome by proxy is not a pediatric condition, but the outward manifestation of an adult psychiatric disorder. peter owl:Class HP:0003924 biolink:NamedThing Stippled calcification of humeral metaphysis hp0009lx5z Speckled calcification in metaphysis of long bone of upper arm UMLS:C4025503 human_phenotype owl:Class HP:0001539 biolink:NamedThing Omphalocele A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. hp0009lx5z Omphalocoele UMLS:C0795690|MSH:D006554|MEDDRA:10030309|SNOMEDCT_US:18735004|Fyler:4404 human_phenotype owl:Class HP:0033355 biolink:NamedThing Increased urine deoxypyridinoline level An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover. hp0009lx5z Elevated urinary DPD 2020-12-01 12:09:27+00:00 peter owl:Class HP:0005400 biolink:NamedThing Reduction of neutrophil motility An abnormal reduction of the cell motility of neutrophils. hp0009lx5z UMLS:C4025201 human_phenotype owl:Class HP:0005621 biolink:NamedThing Trapezoidal shaped vertebral bodies hp0009lx5z UMLS:C4025171 human_phenotype owl:Class HP:0001671 biolink:NamedThing Abnormal cardiac septum morphology An anomaly of the intra-atrial or intraventricular septum. hp0009lx5z Heart septal defect|Septal defects|Abnormality of the cardiac septa HP:0001690|HP:0004760 MSH:D006343|SNOMEDCT_US:59494005|SNOMEDCT_US:396351009|SNOMEDCT_US:253273004|UMLS:C0018816 owl:Class HP:0005069 biolink:NamedThing Rhizo-meso-acromelic limb shortening hp0009lx5z UMLS:C2673654 human_phenotype owl:Class HP:0011436 biolink:NamedThing Abnormal maternal serum screening An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. hp0009lx5z peter 2012-03-17T07:52:25Z UMLS:C4023359 human_phenotype owl:Class HP:0007819 biolink:NamedThing Presenile cataracts Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. hp0009lx5z Presenile cataract Presenile cataract is rare. Some cases have a hereditary cause; others result from trauma or chromosomal, endocrine, metabolic, or systemic disorders. Many cases are idiopathic. The term 'presenile' is used differently in the literature. The HPO defines it to mean a cataract that is diagnosed after the age of 20 years but before old age. HP:0007848 UMLS:C0154971|SNOMEDCT_US:441622000 human_phenotype owl:Class HP:0040331 biolink:NamedThing Focal hypointensity of cerebral white matter on MRI hp0009lx5z ORCID:0000-0002-5316-1399 owl:Class HP:0033768 biolink:NamedThing Penile thrush Overgrowth of candida albicans in the penis. hp0009lx5z Penile candidiasis 2021-04-30 11:53:20+00:00 peter owl:Class HP:0030636 biolink:NamedThing Occult macular dystrophy Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities. hp0009lx5z owl:Class HP:0003185 biolink:NamedThing Short greater sciatic notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. hp0009lx5z Short sacroiliac notch|Small sacroiliac notch|Shortened sacroiliac notches HP:0008815 UMLS:C1866689 human_phenotype owl:Class HP:0030579 biolink:NamedThing Pinhole visual acuity 1.1 LogMAR hp0009lx5z UMLS:C4073052 owl:Class HP:0100147 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 3rd toe hp0009lx5z Bracket shaped end part of the middle bone of 3rd toe doelkens 2010-06-24T10:24:13Z UMLS:C4022274 human_phenotype owl:Class HP:0003819 biolink:NamedThing Death in childhood Death in during childhood, defined here as between the ages of 2 and 10 years. hp0009lx5z Death in childhood previous def was: 'has part' some (premature and ('inheres in' some death) and ('has modifier' some abnormal)) HP:0004149|HP:0001432 UMLS:C1843392 owl:Class HP:0008499 biolink:NamedThing High hypermetropia A severe form of hypermetropia with over +5.00 diopters. hp0009lx5z Severe farsightedness|Severe long-sightedness|High-grade hypermetropia|High hyperopia UMLS:C4024665 human_phenotype owl:Class HP:0025010 biolink:NamedThing Foveal atrophy Partial or complete loss of foveal tissue that was once present. hp0009lx5z 2016-08-07 13:52:09+00:00 Loss of foveal tissue (atrophy) may be inferred by a medical history of loss of vision and the observation of a foveal lesion such as reduced foveal thickness on optical coherence tomography (OCT). HPO:probinson owl:Class HP:0012148 biolink:NamedThing Multiple lineage myelodysplasia Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic. hp0009lx5z peter 2012-09-16T08:33:33Z UMLS:C4023021 human_phenotype owl:Class HP:0009816 biolink:NamedThing Lower limb undergrowth Leg shortening because of underdevelopment of one or more bones of the lower extremity. hp0009lx5z Lower limb undergrowth|Hypoplasia involving bones of the lower limbs|Underdeveloped lower limb bones|Hypoplasia of the lower limbs doelkens 2009-02-23T05:09:32Z HP:0005884|HP:0006399|HP:0003087 UMLS:C0345371|SNOMEDCT_US:253959002 human_phenotype owl:Class HP:0040173 biolink:NamedThing Abnormality of the tongue muscle hp0009lx5z Abnormality of the tongue muscle|Abnormality of lingual muscle HPO:skoehler UMLS:C4073139 owl:Class HP:0030644 biolink:NamedThing Blind-spot enlargment hp0009lx5z Blind spot enlargment UMLS:C4073109 owl:Class HP:0032229 biolink:NamedThing Perinuclear antineutrophil antibody positivity The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. hp0009lx5z p-ANCA positivity 2019-01-26 14:41:19+00:00 peter owl:Class HP:0001664 biolink:NamedThing Torsade de pointes A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. hp0009lx5z Torsades de pointes MSH:D016171|UMLS:C0040479|SNOMEDCT_US:31722008 human_phenotype owl:Class HP:0030986 biolink:NamedThing Biliary epithelial hyperplasia Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen. hp0009lx5z 2017-05-13 13:29:36+00:00 peter owl:Class HP:0012238 biolink:NamedThing Increased circulating chylomicron concentration Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. hp0009lx5z Increased chylomicrons|Hyperchylomicronemia|Increased circulating chylomicron levels peter 2013-03-31T04:17:11Z UMLS:C1535978 human_phenotype owl:Class HP:0030462 biolink:NamedThing Abnormal amplitude of flash visual evoked potentials hp0009lx5z UMLS:C4072952 owl:Class HP:0007928 biolink:NamedThing Abnormal flash visual evoked potentials Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. hp0009lx5z UMLS:C4024772 human_phenotype owl:Class HP:0032786 biolink:NamedThing Migrating focal seizure A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations. hp0009lx5z Migrating partial seizure Migrating focal seizures are one of the pathognomonic features of Epilepsy of infancy with Migrating Focal Seizures (also known as Migrating Partial Seizures of Infancy, MPSI), which is an epileptic encephalopathy characterized by normal early development, refractory focal seizures arising independently from both hemispheres, and severe psychomotor retardation. EEG correlate shows migrating ictal foci, shifting areas of ictal onset between hemispheres. peter owl:Class HP:0033595 biolink:NamedThing Elevated circulating globotriaosylceramide concentration Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease. hp0009lx5z Elevated circulating ceramidetrihexoside concentration 2021-01-30 13:16:58+00:00 peter owl:Class HP:0012546 biolink:NamedThing Skewed maternal X inactivation A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells. hp0009lx5z X chromosome inactivation (XCI) is the process by which one of the two copies of the X chromosome present in females is inactivated in order to achieves dosage equivalency for X-linked genes between XY males and XX females. An individual cell's decision to inactivate either the paternal or maternal X is made early in development, at approximately the time of implantation, such that normally there is a roughly equal distribution of either X being active. A deviation from equality is known as skewing, with common criteria for "skewed" inactivation being arbitrarily defined as the observation of inactivation of the same allele in 75% or 80% of cells (and very skewed inactivation resulting in 90% or 95% of cells with the same allele inactive). For some X-linked diseases there is strong selection in the heterozygous carrier in favor of cells bearing the mutation on the silenced inactive X, and thus, assessment of XCI skewing in female family members can be suggestive of carrier status. peter 2013-12-21T09:22:57Z UMLS:C4022856 human_phenotype owl:Class HP:0030268 biolink:NamedThing Hyperplastic callus formation Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. hp0009lx5z UMLS:C4022548 owl:Class HP:0009611 biolink:NamedThing Bifid distal phalanx of the thumb Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. hp0009lx5z Notched outermost bone of thumb|Bifid thumb distal phalanx|Bifid distal phalanx of thumb|Incipient distal thumb phalanx duplication|Notched terminal thumb phalanx|Notched outermost bone of the thumb|Bifid terminal phalanges of thumbs Note that with bifid distal phalanx, the terminal phalanx of the thumb is clefted but is still one bone. With duplication of the terminal phalanx of the thumb, the distal phalanx is split into two bones that are located side by side. With triphalangeal thumb, the thumb has three phalanxes located one after the other. doelkens 2009-01-29T03:48:49Z HP:0006090|HP:0004086|HP:0005848|HP:0005703|HP:0005827 UMLS:C1860162 human_phenotype owl:Class HP:0100156 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 3rd toe hp0009lx5z Triangular end part of the middle bone of the 3rd toe doelkens 2010-06-24T10:24:13Z UMLS:C4022265 human_phenotype owl:Class HP:0031410 biolink:NamedThing Abnormal distribution of CD56 bright/dim natural killer cells An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells. hp0009lx5z Abnormal distribution of CD56 bright/dim NK cells 2017-09-04 12:15:25+00:00 The cytotoxic activity of CD56 dim NK cells is significantly higher than that of CD56 bright cells (the CD56bright CD16 population being the less cytotoxic) and they contain much more perforin, granzymes and cytolytic granules. peter owl:Class HP:0500033 biolink:NamedThing Abnormal natural killer subset distribution Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells. hp0009lx5z 2018-01-08 19:18:59+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0030595 biolink:NamedThing Abnormal static automated perimetry test hp0009lx5z UMLS:C4073067 owl:Class HP:0030592 biolink:NamedThing Abnormal static perimetry test hp0009lx5z UMLS:C4073064 owl:Class HP:0032030 biolink:NamedThing Lateral canthal tendon laxity Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. hp0009lx5z 2018-09-01 14:49:57+00:00 peter owl:Class HP:0004617 biolink:NamedThing Butterfly vertebral arch Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. hp0009lx5z UMLS:C1861627 human_phenotype owl:Class HP:0030995 biolink:NamedThing Peritoneal effusion An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). hp0009lx5z 2017-05-13 14:07:02+00:00 peter owl:Class HP:0032052 biolink:NamedThing Focal cortical dysplasia type IIa A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins. hp0009lx5z 2018-09-16 11:11:20+00:00 There are no balloon cells present (to be confirmed by immunohistochemistry). Discrimination of individual cortical layers is almost impossible (with the exception of Layer 1). Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter. peter owl:Class HP:0032051 biolink:NamedThing Focal cortical dysplasia type II A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. hp0009lx5z 2018-09-16 11:09:13+00:00 peter owl:Class HP:0011255 biolink:NamedThing Absent crus of helix Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha. hp0009lx5z Helix, crus, absent peter 2011-12-18T05:50:59Z UMLS:C4021185 human_phenotype owl:Class HP:0008226 biolink:NamedThing Androgen insufficiency Insufficient amount of androgenic activity. hp0009lx5z Hypoandrogenism UMLS:C0342527|SNOMEDCT_US:38825009 owl:Class HP:0010415 biolink:NamedThing Bullet-shaped distal phalanx of the 2nd toe An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped outermost bone of the 2nd toe doelkens 2009-07-16T12:44:41Z UMLS:C4023841 human_phenotype owl:Class HP:0009482 biolink:NamedThing Proximal/middle symphalangism of 3rd finger Fusion of the proximal and middle phalanges of the 3rd finger. hp0009lx5z Fused of innermost and middle bones of middle finger doelkens 2009-01-15T10:29:08Z HP:0009481 UMLS:C4024340 human_phenotype owl:Class HP:0001137 biolink:NamedThing Alternating esotropia Esotropia in which either eye may be used for fixation. hp0009lx5z Alternating cross eyes Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time). UMLS:C0152205|SNOMEDCT_US:39837002 human_phenotype owl:Class HP:0032851 biolink:NamedThing Focal aware sensory seizure with visual features A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. hp0009lx5z More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. peter owl:Class HP:0040128 biolink:NamedThing Abnormal sweat electrolytes hp0009lx5z HPO:skoehler UMLS:C4022422 owl:Class HP:0009982 biolink:NamedThing Partial duplication of the middle phalanx of the 4th finger Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Partial duplication of the middle bone of the ring finger doelkens 2009-05-26T02:20:37Z UMLS:C4024130 human_phenotype owl:Class HP:0007627 biolink:NamedThing Mandibular condyle aplasia hp0009lx5z Failure of development of the condylar process of mandible|Underdevelopment of condylar head of mandible|Underdevelopment of condylar neck of mandible|Failure of development of condylar neck of mandible|Agenesis of condylar neck of mandible|Agenesis of condylar process of mandible|Absence of the condylar head of mandible|Underdevelopment of condylar process of mandible|Failure of development of condylar head of mandible|Agenesis of condylar head of mandible|Absence of the condylar neck of mandible|Absence of the condylar process of mandible UMLS:C4280431|UMLS:C4280435|UMLS:C4280434|UMLS:C4280432|SNOMEDCT_US:235119009|UMLS:C4280436|UMLS:C4280430|UMLS:C4280429|UMLS:C4280437|UMLS:C0399570|UMLS:C4280433 human_phenotype owl:Class HP:0010443 biolink:NamedThing Bifid femur A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. hp0009lx5z Split thighbone|Notched thighbone doelkens 2009-07-29T04:29:30Z UMLS:C4023824 owl:Class HP:0006733 biolink:NamedThing Acute megakaryocytic leukemia A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts. hp0009lx5z AMegL|Acute megakaryocytic leukaemia UMLS:C0023467|SNOMEDCT_US:413443009|SNOMEDCT_US:91861009|MSH:D015470|SNOMEDCT_US:17788007 human_phenotype owl:Class HP:0100500 biolink:NamedThing Fibular deviation of toes hp0009lx5z Lateral deviation of toes doelkens 2010-12-17T04:26:14Z UMLS:C4020970 human_phenotype owl:Class HP:0000340 biolink:NamedThing Sloping forehead Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. hp0009lx5z Sloping forehead|Receding forehead|Inclined forehead|Posteriorly sloping forehead Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical. HP:0008500|HP:0000351|HP:0004480|HP:0008493 UMLS:C1857679 human_phenotype owl:Class HP:0040299 biolink:NamedThing Decreased circulating free fatty acid level hp0009lx5z Low fatty acids level ORCID:0000-0002-5316-1399 owl:Class HP:0040300 biolink:NamedThing Abnormal circulating free fatty acid concentration Any deviation from the normal concentration of a free fatty acid in the blood circulation. hp0009lx5z Abnormal circulating free fatty acid level ORCID:0000-0002-5316-1399 owl:Class HP:0005231 biolink:NamedThing Chronic gastritis A chronic form of gastritis. hp0009lx5z SNOMEDCT_US:8493009|UMLS:C0085695 human_phenotype owl:Class HP:0031530 biolink:NamedThing Multifocal subretinal deposits Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci. hp0009lx5z 2017-09-24 00:49:30+00:00 peter owl:Class HP:0006150 biolink:NamedThing Swan neck-like deformities of the fingers A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. hp0009lx5z UMLS:C1849152 human_phenotype owl:Class HP:0410285 biolink:NamedThing Positive meconium methadone test Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium. hp0009lx5z 2018-12-04 02:02:19+00:00 owl:Class HP:0032433 biolink:NamedThing Decreased HDL3c concentration A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. hp0009lx5z 2019-03-02 13:51:30+00:00 peter owl:Class HP:0032839 biolink:NamedThing Bilateral symmetric neonatal sequential seizure Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs. hp0009lx5z No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. peter owl:Class HP:0011453 biolink:NamedThing Abnormality of the incus An abnormality of the incus, an ossicle in the middle ear. hp0009lx5z peter 2012-03-19T09:38:20Z UMLS:C4023350 human_phenotype owl:Class HP:0200046 biolink:NamedThing Cat cry The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. hp0009lx5z cat-like cry|Cat cry|cri de chat-associated cry This unusual cry is characteristic of the cri du chat syndrome which results from a deletion on the p arm of chromosome 5. It is thought to be due to laryngeal hypoplasia, floppy epiglottis, small larynx, and asymmetric vocal cords, but is probably also related to dysfunction of the central nervous system. This sign occurs in infants and disappears with age. sebastiankohler 2011-02-02T01:56:20Z UMLS:C0234861|SNOMEDCT_US:42712003 human_phenotype owl:Class HP:0100160 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 3rd toe hp0009lx5z Enlarged end part of the innermost bone of the 3rd toe doelkens 2010-06-24T10:24:45Z UMLS:C4022261 human_phenotype owl:Class HP:0410305 biolink:NamedThing Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:04:21+00:00 owl:Class HP:0001803 biolink:NamedThing Nail pits Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. hp0009lx5z Nail pits|Pitted nails|Nail pitting MEDDRA:10028702|SNOMEDCT_US:89704006|UMLS:C0150993 human_phenotype owl:Class HP:4000011 biolink:NamedThing History of congenital HPV infection A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn. hp0009lx5z 2021-05-02 12:58:58+00:00 robinp owl:Class HP:0031727 biolink:NamedThing Excyclotropia A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other. hp0009lx5z 2018-01-14 15:39:16+00:00 peter owl:Class HP:0410357 biolink:NamedThing Increased high-mannose N-glycan level An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins. hp0009lx5z Increased high-mannose N-glycans on glycoprotein concentration owl:Class HP:5000029 biolink:NamedThing Anti-PKCgamma antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma. hp0009lx5z Anti-Protein kinase C gamma antibody ORCID:0000-0002-3387-1836 owl:Class HP:0005574 biolink:NamedThing Non-acidotic proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. hp0009lx5z UMLS:C4025176 human_phenotype owl:Class HP:0005451 biolink:NamedThing Decreased cranial base ossification hp0009lx5z UMLS:C1835442 human_phenotype owl:Class HP:0004331 biolink:NamedThing Decreased skull ossification A reduction in the magnitude or amount of ossification of the skull. hp0009lx5z Poorly ossified skull bones|Poorly mineralized skull|Deficient skull ossification|Decreased calcification of skull|Decreased bone formation of skull|Decreased mineralization of skull|Poorly ossified skull|Hypoossification of skull|Ossification defect of skull peter 2008-02-28T11:54:00Z HP:0003780 SNOMEDCT_US:253980008|UMLS:C0432073|UMLS:C4280533 human_phenotype owl:Class HP:0033077 biolink:NamedThing Increased circulating free T4 level An elevated concentration of free thyroxine (fT4) in the blood circulation. hp0009lx5z peter owl:Class HP:0001686 biolink:NamedThing Loss of voice hp0009lx5z Aphonia MSH:D001044|SNOMEDCT_US:44564008|SNOMEDCT_US:441913003|UMLS:C0003564 human_phenotype owl:Class HP:0033228 biolink:NamedThing Triceps areflexia Inability to elicit triceps tendon reflex. hp0009lx5z Areflexia of triceps 2020-10-30 11:15:30+00:00 peter owl:Class HP:0033815 biolink:NamedThing Bronchocentric Centered in bronchi or bronchioles. hp0009lx5z 2021-05-09 12:11:30+00:00 peter owl:Class HP:0032888 biolink:NamedThing Focal impaired awareness cognitive seizure with forced thinking A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0006784 biolink:NamedThing Paranasal sinus hypoplasia Underdevelopment of the paranasal sinuses. hp0009lx5z Hypotrophic paranasal sinus|Decreased size of paranasal sinus|Decreased growth of paranasal sinus|Decreased pneumatization of paranasal sinus|Underdevelopment of paranasal sinus|Decreased volume of paranasal sinus|Atelectasis of paranasal sinus|Small paranasal sinus UMLS:C2749161|UMLS:C4280442|UMLS:C4280256|UMLS:C4280441 owl:Class HP:0031298 biolink:NamedThing Coronary sinus enlargement Abnormal increase in size of the coronary sinus. hp0009lx5z Coronary sinus dilatation|Enlarged coronary sinus 2017-08-13 21:47:43+00:00 The coronary sinus is rarely seen on echocardiography in healthy persons. The differential diagnosis of dilated coronary sinus includes right ventricular dysfunction, right atrial hypertension, and anomalous venous drainage into the coronary sinus. peter owl:Class HP:0032393 biolink:NamedThing Diffuse ribbon-like subcortical heterotopia Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex. hp0009lx5z 2019-02-24 16:06:38+00:00 peter owl:Class HP:0003450 biolink:NamedThing Axonal regeneration The presence of axonal regeneration following a previous axonal lesion. hp0009lx5z Regenerative activity on nerve biopsy This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information. UMLS:C1854454 human_phenotype owl:Class HP:0008122 biolink:NamedThing Calcaneonavicular fusion Synostosis of the calcaneus with the navicular bone. hp0009lx5z UMLS:C4024730 human_phenotype owl:Class HP:0012777 biolink:NamedThing Retinal neoplasm A tumor (abnormal growth of tissue) of the retina. hp0009lx5z peter 2014-04-07T05:38:24Z SNOMEDCT_US:127002001|UMLS:C0524801|MSH:D019572|NCIT:C3262 human_phenotype owl:Class HP:0030569 biolink:NamedThing Pinhole visual acuity 0.1 LogMAR hp0009lx5z UMLS:C4073042 owl:Class HP:0008423 biolink:NamedThing Spinal dysplasia The presence of developmental dysplasia of the vertebral column. hp0009lx5z UMLS:C4021853 human_phenotype owl:Class HP:0032224 biolink:NamedThing ABO blood group The ABO system consists of A and B antigens and antibodies against these antigens. hp0009lx5z 2019-01-24 11:40:47+00:00 The ABO histo-blood group consists of two antigens (A and B antigens) and four blood types (types A, B, AB, and O). The A and B antigens are the product of the ABO gene and are autosomal codominant. The group O phenotype is an autosomal-recessive phenotype due to the homozygous inheritance of two null ABO alleles. Group O individuals express the H antigen, the biosynthetic precursor to A and B antigens. ABO, therefore, is the blood type, whereas A, B, and H refer to the antigens. peter owl:Class HP:0003093 biolink:NamedThing Limited hip extension Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. hp0009lx5z Limited hip extension|Restricted hip extension Reduced ability to straighten out the femur. HP:0008810 UMLS:C3553368 human_phenotype owl:Class HP:0005852 biolink:NamedThing Limited elbow extension and supination hp0009lx5z UMLS:C4025124 human_phenotype owl:Class HP:0001377 biolink:NamedThing Limited elbow extension Limited ability to straighten the arm at the elbow joint. hp0009lx5z Limitation of elbow extension|Decreased elbow extension|Limited extension at elbows|Restricted elbow extension|Elbow limited extension|Limited elbow extension|Limited forearm extension HP:0005073 UMLS:C1867103 owl:Class HP:0005240 biolink:NamedThing Esophageal obstruction hp0009lx5z SNOMEDCT_US:405247003|UMLS:C0239296 human_phenotype owl:Class HP:0006527 biolink:NamedThing Lymphocytic interstitial pneumonia Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa. hp0009lx5z Lymphoid interstitial pneumonia|Lymphoid interstitial pneumonitis|Lymphocytic interstitial pneumonitis Lymphocytic interstitial pneumonitis is assumed to be a pathological immunologic response to different triggers and are particularly associated with autoimmune and infectious diseases as well as immunodeficiency. Associated clinical manifestations often include fever, cough, and shortness of breath. SNOMEDCT_US:44274007|MSH:C562489|UMLS:C0264511 owl:Class HP:0012011 biolink:NamedThing EEG with occipital focal spike waves EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. hp0009lx5z hecht 2012-07-20T11:59:43Z UMLS:C4023080 human_phenotype owl:Class HP:0005694 biolink:NamedThing Partial fusion of proximal row of carpal bones hp0009lx5z Partial fusion of innermost row of wrist bones UMLS:C3152021 human_phenotype owl:Class HP:0032733 biolink:NamedThing Focal aware motor seizure with dysarthria/anarthria A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure. hp0009lx5z Focal motor aware seizure with dysarthria/anarthria peter owl:Class HP:0009724 biolink:NamedThing Subungual fibromas The presence of fibromata beneath finger or toenails. hp0009lx5z Subungual fibroma peter 2009-01-31T09:49:51Z UMLS:C0266003|SNOMEDCT_US:39295002 human_phenotype owl:Class HP:0500149 biolink:NamedThing Hyperglutamatemia An increased amount of glutamate in the blood. hp0009lx5z High blood glutamate levels|Increased blood glutamate concentration 2018-10-04 14:29:35+00:00 Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. owl:Class HP:0008468 biolink:NamedThing Abnormal sacral segmentation An abnormality related to a defect of vertebral separation of sacral vertebrae during development. hp0009lx5z UMLS:C1968942 human_phenotype owl:Class HP:0008490 biolink:NamedThing Sacral segmentation defect hp0009lx5z UMLS:C1850329 human_phenotype owl:Class HP:0032441 biolink:NamedThing Blood group AB ABO phenotype AB, corresponding to the genotype AB. hp0009lx5z 2019-03-03 16:37:30+00:00 peter owl:Class HP:0031346 biolink:NamedThing Rectal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum. hp0009lx5z 2017-08-27 13:59:03+00:00 peter owl:Class HP:0030933 biolink:NamedThing 1-minute APGAR score of 6 hp0009lx5z 2016-11-07 18:16:41+00:00 robinp owl:Class HP:0005010 biolink:NamedThing Osteomyelitis leading to amputation due to slow healing fractures hp0009lx5z UMLS:C1864975 human_phenotype owl:Class HP:0003861 biolink:NamedThing Broad diaphyses of the upper limbs hp0009lx5z Wide shaft of long bone of the upper limbs|Wide diaphyses of the upper limbs|Broad shaft of long bone of the upper limbs UMLS:C4021718 human_phenotype owl:Class HP:0003571 biolink:NamedThing Propionic acidemia Increased concentration of proprionic acid in the blood circulation. hp0009lx5z SNOMEDCT_US:69080001|UMLS:C0268579|MSH:D056693|SNOMEDCT_US:124718009 owl:Class HP:0031799 biolink:NamedThing Decreased circulating apolipoprotein AI concentration Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease. hp0009lx5z Decreased apo-AI level|Decreased apoA-I level|Decreased apolipoprotein AI level 2018-02-25 15:04:10+00:00 peter owl:Class HP:0011054 biolink:NamedThing Agenesis of molar Agenesis of molar tooth. hp0009lx5z Missing molar|Absent molars|Failure of development of molar|Absence of molar peter 2011-03-10T11:41:46Z UMLS:C4280348|UMLS:C4021203 human_phenotype owl:Class HP:0011077 biolink:NamedThing Abnormality of molar An abnormality of molar tooth. hp0009lx5z Abnormality of molar peter 2011-03-11T09:57:49Z UMLS:C4023547 owl:Class HP:0011212 biolink:NamedThing EEG with photoparoxysmal response grade II Occurence of epileptiform discharges in occipital and central regions during photic stimulation. hp0009lx5z peter 2011-11-19T12:59:32Z UMLS:C4023463 human_phenotype owl:Class HP:0009668 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the thumb Epiphysis of the proximal phalanx of the thumb having multiple bony fragments. hp0009lx5z Fragmentation of end part of thumb innermost long bone doelkens 2009-01-30T09:17:13Z UMLS:C4024249 human_phenotype owl:Class HP:0032557 biolink:NamedThing History of bone marrow transplant A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor. hp0009lx5z Status post hematopoietic stem cell transplantation|Status post haematopoietic stem cell transplantation 2019-06-14 11:13:53+00:00 peter owl:Class HP:0005335 biolink:NamedThing Sleepy facial expression hp0009lx5z Somnolent facial expression|Sleepy facial expression UMLS:C4025214 human_phenotype owl:Class HP:0025536 biolink:NamedThing V-sign Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest. hp0009lx5z 2017-05-18 01:20:44+00:00 This feature may be observed with dermatomyositis and polymyositis. HPO:probinson owl:Class HP:0410235 biolink:NamedThing Increased anti-insect IgE antibody level Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches. hp0009lx5z 2018-10-03 22:38:30+00:00 owl:Class HP:0002836 biolink:NamedThing Bladder exstrophy Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. hp0009lx5z Ectopia vesicae Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately. MSH:D001746|UMLS:C0005689|SNOMEDCT_US:61758007 human_phenotype owl:Class HP:0008648 biolink:NamedThing Anteriorly displaced urethral meatus hp0009lx5z UMLS:C4024648 human_phenotype owl:Class HP:0020194 biolink:NamedThing IgA heavy chain paraproteinemia An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp0009lx5z Alpha heavy chain disease robinp 2019-09-05 14:01:38+00:00 owl:Class HP:0003963 biolink:NamedThing Lytic defects of the forearm bones hp0009lx5z UMLS:C4025476 human_phenotype owl:Class HP:0025161 biolink:NamedThing Frequent temper tantrums Temper tantrums that occur more frequently than usual. hp0009lx5z 2016-12-04 13:05:18+00:00 HPO:probinson owl:Class HP:0001985 biolink:NamedThing Hypoketotic hypoglycemia A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. hp0009lx5z Hypoglycemia, hypoketotic Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. HP:0005969 UMLS:C1856438 human_phenotype owl:Class HP:0003534 biolink:NamedThing Reduced xanthine dehydrogenase level An abnormal reduction in xanthine dehydrogenase level. hp0009lx5z Xanthine dehydrogenase deficiency This enzyme is on the purine degradation pathway and catalzyes the reaction xanthine + NAD+ + H2O = urate + NADH + H+. UMLS:C0268118|SNOMEDCT_US:124147007|UMLS:C4025600|MSH:C562584|SNOMEDCT_US:72682008 human_phenotype owl:Class HP:0033225 biolink:NamedThing Glomerular parietal epithelial cell hypertrophy An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present hp0009lx5z Hypertrophy of the glomerular parietal epithelial cell 2020-10-30 10:42:41+00:00 peter owl:Class HP:3000025 biolink:NamedThing Abnormality of ciliary ganglion An abnormality of a ciliary ganglion. hp0009lx5z vasilevs 2015-08-07T00:16:07Z UMLS:C4073234 human_phenotype owl:Class HP:0410054 biolink:NamedThing Decreased level of GABA in serum A decrease in the level of GABA in the serum. hp0009lx5z Decreased level of gamma-aminobutyric acid in serum 2018-01-27 01:56:12+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0031043 biolink:NamedThing Type A4 brachydactyly A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits. hp0009lx5z 2017-05-27 13:45:19+00:00 peter owl:Class HP:0002601 biolink:NamedThing Paresis of extensor muscles of the big toe hp0009lx5z UMLS:C4025696 human_phenotype owl:Class HP:0008788 biolink:NamedThing Delayed pubic bone ossification Delayed maturation and calcification of the pubic bone. hp0009lx5z Delayed maturation fo pubic bone|Absent pubic ossification in infancy|Delayed mineralization of pubic bone HP:0008795|HP:0008827 UMLS:C1866710|UMLS:C1861528|UMLS:C4280411 human_phenotype owl:Class HP:0011800 biolink:NamedThing Midface retrusion Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. hp0009lx5z Decreased size of midface|Flat midface|Small midface|Midface retrusion|Decreased projection of midface|Retrusive midface|Hypoplasia of midface|Midface hypoplasia|Midface deficiency|Hypotrophic midface|Midface, flat|Underdevelopment of midface peter 2012-04-24T07:46:05Z HP:0040199 UMLS:C4280320|UMLS:C4280321|UMLS:C2673410|UMLS:C1853242 human_phenotype owl:Class HP:0006649 biolink:NamedThing Costochondral pain Chest wall pain in the area of the costochondral junctions. hp0009lx5z Costochondral junction pain Costochondral pain is in the differential diagnosis of chest pain, being a relatively benign cause compared to myocardial ischemia. Costochondral pain can be caused by costochondritis. UMLS:C4021587 human_phenotype owl:Class HP:0031191 biolink:NamedThing Deep dermal perivascular inflammatory infiltrate Numerous lymphocytes surrounding blood vessels in the deep part of the dermis. hp0009lx5z Deep perivascular inflammatory infiltrate 2017-06-24 14:07:03+00:00 peter owl:Class HP:0009530 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 2nd finger hp0009lx5z Increased bone density of end part of the innermost bone of the index finger doelkens 2009-01-16T01:12:34Z UMLS:C4024306 human_phenotype owl:Class HP:0040334 biolink:NamedThing Purulent rhinitis Chronic rhinitis accompanied by pus formation. hp0009lx5z An infection of the nasal mucosa associated with pus formation. (Often secondary to a systemic infection, such as measles) ORCID:0000-0002-5316-1399 owl:Class HP:0025419 biolink:NamedThing Pulmonary pneumatocele A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung. hp0009lx5z Pulmonary pneumatocoele 2017-04-23 11:52:30+00:00 See Figure 52 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. HPO:probinson owl:Class HP:0100180 biolink:NamedThing Absent epiphysis of the middle phalanx of the 4th toe hp0009lx5z Absent end part of the middle bone of the 4th toe doelkens 2010-06-24T04:54:13Z UMLS:C4022241 human_phenotype owl:Class HP:0000743 biolink:NamedThing Frontal release signs Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. hp0009lx5z Frontal release reflexes HP:0006911 UMLS:C1833297 human_phenotype owl:Class HP:0007504 biolink:NamedThing Diffuse slow skin atrophy hp0009lx5z UMLS:C4024860 human_phenotype owl:Class HP:0007488 biolink:NamedThing Diffuse skin atrophy hp0009lx5z UMLS:C4024863 human_phenotype owl:Class HP:0410298 biolink:NamedThing Partial absence of specific antibody response to hepatitis B vaccine A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:02:55+00:00 owl:Class HP:0025334 biolink:NamedThing Triggered by emotion Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion). hp0009lx5z Emotion triggered symptoms 2017-02-12 11:38:35+00:00 HPO:probinson owl:Class HP:0003931 biolink:NamedThing Periosteal new bone of humeral diaphysis hp0009lx5z UMLS:C4025498 human_phenotype owl:Class HP:0031781 biolink:NamedThing Microtropia with identity A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC. hp0009lx5z 2018-01-28 11:42:09+00:00 peter owl:Class HP:0031724 biolink:NamedThing Microtropia A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs. hp0009lx5z 2018-01-13 14:16:59+00:00 peter owl:Class HP:0002209 biolink:NamedThing Sparse scalp hair Decreased number of hairs per unit area of skin of the scalp. hp0009lx5z Thin scalp hair|Sparse, thin scalp hair|sparse-absent scalp hair|Scalp hair, thinning|Decreased number of scalp follicles|Hypotrichosis on scalp|Scalp hypotrichosis|Sparse scalp hair|Reduction in the number of scalp follicles|Reduced/lack of hair on scalp Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. HP:0002233|HP:0004782|HP:0004534|HP:0002556|HP:0004542|HP:0004772|HP:0004775|HP:0004541|HP:0004774|HP:0004526 UMLS:C1873509|UMLS:C1857042 owl:Class HP:0031481 biolink:NamedThing Abnormal mitral valve physiology Any functional anomaly of the mitral valve. hp0009lx5z 2017-09-17 22:37:40+00:00 peter owl:Class HP:0100015 biolink:NamedThing Stahl ear The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix. hp0009lx5z Additional crus|Third crus The helix is often poorly formed. Four types have been recognized in the surgical literature [Yamada and Fukuda, 1980]. doelkens 2010-05-25T10:30:14Z UMLS:C1862689|SNOMEDCT_US:253252004 human_phenotype owl:Class HP:0030591 biolink:NamedThing Abnormal kinetic perimetry test hp0009lx5z UMLS:C4073063 owl:Class HP:0030588 biolink:NamedThing Abnormal visual field test Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field. hp0009lx5z UMLS:C0854021 owl:Class HP:0100011 biolink:NamedThing Scleral schwannoma hp0009lx5z doelkens 2010-05-14T09:41:55Z UMLS:C4022390|NCIT:C3269 human_phenotype owl:Class HP:0007086 biolink:NamedThing Social and occupational deterioration hp0009lx5z UMLS:C1866986 owl:Class HP:0033380 biolink:NamedThing Nasal chondritis Inflammation of the cartilage of the nose. hp0009lx5z Nose chondritis 2020-12-23 14:31:16+00:00 peter owl:Class HP:0031255 biolink:NamedThing Hypothalamic arteriovenous malformation An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus. hp0009lx5z 2017-08-12 15:49:25+00:00 peter owl:Class HP:0040291 biolink:NamedThing Skeletal muscle steatosis hp0009lx5z Steatosis of skeletal muscle|Steatosis of skeletal muscles owl:Class HP:0030384 biolink:NamedThing Decreased proportion of marginal zone B cells A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. hp0009lx5z UMLS:C4072922 owl:Class HP:0030383 biolink:NamedThing Abnormal proportion of marginal zone B cells A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. hp0009lx5z UMLS:C4072921 owl:Class HP:0100640 biolink:NamedThing Laryngeal cyst Presence of a cyst (sac-like structure) located in the larynx. hp0009lx5z doelkens 2010-12-29T05:48:37Z UMLS:C0339880|SNOMEDCT_US:195867000 human_phenotype owl:Class HP:0410335 biolink:NamedThing Insect allergy Hypersensitivity in form of an adverse immune reaction against insects. hp0009lx5z Insect allergy|IgE-mediated insect allergy|Immunoglobulin E-mediated insect allergy|Allergy to insects owl:Class HP:0001982 biolink:NamedThing Sea-blue histiocytosis An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa. hp0009lx5z 'Sea blue' histiocytes|Sea-blue histiocyte MSH:D012618|UMLS:C0036489|SNOMEDCT_US:37821003 human_phenotype owl:Class HP:0003974 biolink:NamedThing Absent radius Missing radius bone associated with congenital failure of development. hp0009lx5z Radial aplasia|Missing outer large bone of forearm|Absent ossification/absence of radius|absence of radius and ulna|Aplasia of the radius HP:0002819|HP:0005012 UMLS:C1849314|UMLS:C1405984|UMLS:C1838608 human_phenotype owl:Class HP:0032200 biolink:NamedThing Perivascular fibrosis The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern. hp0009lx5z 2019-01-20 11:05:59+00:00 peter owl:Class HP:0100181 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 4th toe hp0009lx5z Bracket shaped end part of the middle bone of the 4th toe doelkens 2010-06-24T04:54:13Z UMLS:C4022240 human_phenotype owl:Class HP:0001716 biolink:NamedThing Wolff-Parkinson-White syndrome A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. hp0009lx5z SNOMEDCT_US:74390002|UMLS:C0043202|MSH:D014927 human_phenotype owl:Class HP:0009525 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 2nd finger An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. hp0009lx5z Bracket epiphyses of proximal index finger phalanx|Bracket shaped end part of innermost long bone of index finger doelkens 2009-01-16T01:12:34Z HP:0004120 UMLS:C4021457 human_phenotype owl:Class HP:0011520 biolink:NamedThing Deuteranomaly A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. hp0009lx5z Green-weak|Deuteranomoly Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. peter 2012-04-06T07:14:19Z SNOMEDCT_US:77479002|MSH:D003117|UMLS:C0155016|SNOMEDCT_US:246674000 human_phenotype owl:Class HP:0200001 biolink:NamedThing Dysharmonic accelerated bone age A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones. hp0009lx5z sebastiankohler 2010-05-31T01:20:58Z UMLS:C4021907 human_phenotype owl:Class HP:0200000 biolink:NamedThing Dysharmonic bone age Different levels of maturation of different bones. hp0009lx5z Dysharmonic skeletal maturation Bone age is usually determined by using a radiograph of the left hand to compare with images in the Greulich-Pyle atlas and approximating the closest skeletal age. If the skeletal ages of individuals bones are different, i.e., different bones have (clearly) different levels of maturation, then it is referred to as dysharmonic skeletal maturation. sebastiankohler 2010-05-31T01:16:51Z UMLS:C4020918 human_phenotype owl:Class HP:0031971 biolink:NamedThing Subaortic ventricular septal bulge A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy. hp0009lx5z 2018-07-07 23:58:07+00:00 Subaortic ventricular septal bulge has been considered mainly as an incidental finding associated with older age and hypertension, although some authors have suggested that it may be part of the spectrum of hypertrophic cardiomyopathy, may determine some degree of left ventricular (LV) obstruction, which in turn may potentially cause symptoms such as syncope and dyspnea on effort. peter owl:Class HP:0011103 biolink:NamedThing Abnormal left ventricular outflow tract morphology An abnormality of the outflow tract of the left ventricle. hp0009lx5z Abnormality of the left ventricular outflow tract peter 2011-06-05T04:15:50Z SNOMEDCT_US:253545000|UMLS:C0344916 human_phenotype owl:Class HP:0012548 biolink:NamedThing Fatty replacement of skeletal muscle Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers hp0009lx5z Skeletal muscle fatty infiltration Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography. peter 2014-01-01T03:03:05Z UMLS:C4021082 human_phenotype owl:Class HP:0012736 biolink:NamedThing Profound global developmental delay A profound delay in the achievement of motor or mental milestones in the domains of development of a child. hp0009lx5z Global developmental delay, profound|Psychomotor retardation, profound peter 2014-03-23T03:21:25Z UMLS:C3553450|UMLS:C1855773 human_phenotype owl:Class HP:0007200 biolink:NamedThing Episodic hypersomnia hp0009lx5z UMLS:C4024925 human_phenotype owl:Class HP:0000494 biolink:NamedThing Downslanted palpebral fissures The palpebral fissure inclination is more than two standard deviations below the mean. hp0009lx5z Down slanting palpebral fissures|Palpebral fissures down-slanted|Downward slanting of the opening between the eyelids|Downward slanting palpebral fissures|Down-slanting palpebral fissures|Antimongoloid slant of palpebral fissures|Down-slanting palpebral fissure|Antimongoloid eye slant|Downslanting palpebral fissure|Down-slanted palpebral fissures|Antimongoloid slanted palpebral fissures|Downward-slanting palpebral fissures|Downslanting palpebral fissures|Downward slanted palpebral fissures HP:0007714|HP:0007908 UMLS:C0423110|SNOMEDCT_US:246800008 human_phenotype owl:Class HP:0200006 biolink:NamedThing Slanting of the palpebral fissure hp0009lx5z Slanting of the opening between the eyelids sebastiankohler 2010-06-09T07:57:10Z UMLS:C2748932 human_phenotype owl:Class HP:0430006 biolink:NamedThing Ectopic cilia of eyelid An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid. hp0009lx5z UMLS:C0521574|SNOMEDCT_US:95504004 owl:Class HP:0032517 biolink:NamedThing Majocchi's granuloma Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles. hp0009lx5z 2019-05-26 10:32:18+00:00 Majocchi's granuloma (MG) is classified into two forms, depending on the affected individual's health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities. The main cause of MG is Trichophyton rubrum, followed by T. mentagrophytes, T. violaceum, and T. tonsurans. However, several fungi, such as T. interdigitale, Microsporum canis, Nannizzia gypsea (former M. gypseum), Epidermophyton floccosum, and Aspergillus species, can also cause MG. peter owl:Class HP:0033148 biolink:NamedThing Increased circulating isovaleric acid concentration Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration. hp0009lx5z Isovalericacidemia|Increased circulating isovalerate 2020-09-19 11:42:45+00:00 peter owl:Class HP:0005687 biolink:NamedThing Deformed humeral heads hp0009lx5z Deformed head of long bone in upper arm UMLS:C4025154 human_phenotype owl:Class HP:0002710 biolink:NamedThing Commissural lip pit A depression located at an oral commissure. hp0009lx5z Commissural pit|Lip pits at corners of the mouth|Pits at the corners of the lips|Commissural labial pits Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture. UMLS:C0399605 human_phenotype owl:Class HP:0410303 biolink:NamedThing Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:04:07+00:00 owl:Class HP:0001058 biolink:NamedThing Poor wound healing A reduced ability to heal cutaneous wounds. hp0009lx5z Poor wound healing UMLS:C1851789 human_phenotype owl:Class HP:0008223 biolink:NamedThing Compensated hypothyroidism Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4). hp0009lx5z Mild hypothyroidism|Subclinical hypothyroidism UMLS:C0342162|SNOMEDCT_US:237523006 human_phenotype owl:Class HP:0031088 biolink:NamedThing Vaginal dryness Persistent vaginal dryness. hp0009lx5z 2017-05-29 00:50:43+00:00 peter owl:Class HP:0031141 biolink:NamedThing Increased hepatic echogenicity Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. hp0009lx5z Hyperechogenic liver 2017-06-11 19:19:59+00:00 peter owl:Class HP:0030007 biolink:NamedThing EMG: positive sharp waves These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. hp0009lx5z SNOMEDCT_US:251527008|UMLS:C0429349 owl:Class HP:0011989 biolink:NamedThing Ectopic ossification in ligament tissue Formation of abnormal bony tissue within ligament tissue. hp0009lx5z peter 2012-07-19T10:48:31Z UMLS:C4023094 human_phenotype owl:Class HP:0009545 biolink:NamedThing Symphalangism of the 2nd finger hp0009lx5z Symphalangism of index finger phalanges|Fused index finger bones doelkens 2009-01-21T10:19:34Z HP:0004116 UMLS:C4021446 human_phenotype owl:Class HP:0030243 biolink:NamedThing Hepatic vein thrombosis An obstruction in the veins of the liver caused by a blood clot (thrombosis). hp0009lx5z Hepatic venous thrombosis|Blood clot in liver vein UMLS:C0019154|SNOMEDCT_US:38739001|MSH:D006502 owl:Class HP:0009266 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger. hp0009lx5z Irregular end part of the innermost bone of the ring finger doelkens 2009-01-07T12:12:59Z UMLS:C4024483 human_phenotype owl:Class HP:0030241 biolink:NamedThing Hypoplasia of deltoid muscle Underdevelopment of the deltoid muscle. hp0009lx5z Deltoid muscle hypoplasia HP:0009039|HP:0009044 UMLS:C1868170 owl:Class HP:0008952 biolink:NamedThing Shoulder muscle hypoplasia Underdevelopment of muscles of the shoulder. hp0009lx5z Underdeveloped shoulder muscle UMLS:C1969001 human_phenotype owl:Class HP:0030998 biolink:NamedThing Cerebrospinal fluid rhinorrhoea Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose. hp0009lx5z CSF rhinorrhoea 2017-05-13 18:30:18+00:00 CSF rhinorrhea or liquorrhoea commonly occurs following head trauma (fronto-basal skull fractures), as a result of intracranial surgery, or destruction lesions. A spinal fluid leak from the intracranial space to the nasal respiratory tract is potentially very serious because of the risk of an ascending infection which could produce fulminant meningitis. peter owl:Class HP:0033902 biolink:NamedThing Arcuate artery endotheliosis Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. hp0009lx5z Endotheliosis within arcuate arteries 2021-06-23 22:35:58+00:00 peter owl:Class HP:0033901 biolink:NamedThing Abnormal arcuate artery endothelium morphology Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. hp0009lx5z 2021-06-23 22:31:30+00:00 peter owl:Class HP:0001445 biolink:NamedThing Abnormality of the hip-girdle musculature hp0009lx5z peter 2008-04-07T10:31:00Z UMLS:C4025780 human_phenotype owl:Class HP:0020164 biolink:NamedThing Ophthalmic artery occlusion A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs. hp0009lx5z robinp 2019-07-06 21:05:14+00:00 owl:Class HP:0030760 biolink:NamedThing Renal fibrosis Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. hp0009lx5z Kidney fibrosis UMLS:C0151650|SNOMEDCT_US:197660000 owl:Class HP:0100310 biolink:NamedThing Epidural hemorrhage Hemorrhage occurring between the dura mater and the skull. hp0009lx5z Extradural hematoma|Epidural haematoma|Extradural haematoma|Epidural haemorrhage|Epidural hematoma Intracranial bleeding occuring between the dura mater (the tough outer membrane of the central nervous system) and the skull. The dura mater also covers the spine, so epidural bleeds may also occur in the spinal column. doelkens 2010-08-10T03:05:35Z MSH:D006407|UMLS:C0238154|SNOMEDCT_US:428268007|SNOMEDCT_US:82999001 human_phenotype owl:Class HP:0033842 biolink:NamedThing Early satiety The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food. hp0009lx5z Not able to finish a normal-sized meal|Feeling full quickly when eating 2021-05-30 20:36:13+00:00 peter owl:Class HP:0011887 biolink:NamedThing Choroid hemorrhage Hemorrhage from the vessels of the choroid. hp0009lx5z Choroidal haemorrhage|Choroid haemorrhage|Choroidal hemorrhage peter 2012-06-02T10:50:39Z SNOMEDCT_US:122003|UMLS:C0008522|MSH:D002832 human_phenotype owl:Class HP:0011885 biolink:NamedThing Hemorrhage of the eye Bleeding from vessels of the various tissues of the eye. hp0009lx5z Haemorrhage of the eye|Bleeding from the eye peter 2012-06-02T10:44:39Z SNOMEDCT_US:93478000|SNOMEDCT_US:417244000|UMLS:C0015402|MSH:D005130 human_phenotype owl:Class HP:0040325 biolink:NamedThing Bull's eye rash A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings. hp0009lx5z ORCID:0000-0002-5316-1399 owl:Class HP:0030753 biolink:NamedThing Intrauterine fetal demise of one twin after midgestation Loss of one twin occurring after midgestation (17 weeks gestation). hp0009lx5z Intrauterine foetal demise of one twin after midgestation|Single-twin demise Loss of one twin in the first trimester does not appear to impair the development of the surviving twin. However, fetal death occurring after midgestation (17 weeks' gestation) may increase the risk of IUGR, preterm labor, preeclampsia and perinatal mortality. UMLS:C4280785 owl:Class HP:0003526 biolink:NamedThing Orotic acid crystalluria Formation of crystals owing to an increased concentration of orotic acid in the urine. hp0009lx5z UMLS:C3278626 human_phenotype owl:Class HP:0008845 biolink:NamedThing Mesomelic short stature A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). hp0009lx5z Mesomelic dwarfism|Short stature, disproportionate mesomelic|Short stature, mesomelic|Dwarfism, short limb mesomelic HP:0008910|HP:0008896|HP:0008903 UMLS:C1855274 human_phenotype owl:Class HP:0025417 biolink:NamedThing Patulous urethra Urethra more open or expanded than normal. hp0009lx5z 2017-04-23 11:39:39+00:00 HPO:probinson owl:Class HP:0030622 biolink:NamedThing Abnormal foveal pit on macular OCT hp0009lx5z UMLS:C4073092 owl:Class HP:0031021 biolink:NamedThing Squamous Papilloma A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus]. hp0009lx5z 2017-05-21 13:13:55+00:00 peter NCIT:C3712 owl:Class HP:0005490 biolink:NamedThing Postnatal macrocephaly The postnatal development of an abnormally large skull (macrocephaly). hp0009lx5z Macrocephaly, postnatal UMLS:C1854417 human_phenotype owl:Class HP:0025347 biolink:NamedThing Decreased circulating beta-2-microglobulin level Reduced concentration of beta-2-microglobulin in the blood. hp0009lx5z Reduced circulating beta-2-microglobulin level 2017-02-12 13:54:52+00:00 HPO:probinson owl:Class HP:0002613 biolink:NamedThing Biliary cirrhosis Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. hp0009lx5z Primary biliary cirrhosis MSH:D008105|UMLS:C0023892|UMLS:C0008312|SNOMEDCT_US:1761006|SNOMEDCT_US:31712002 human_phenotype owl:Class HP:0410359 biolink:NamedThing Abnormal core 1 O-glycan level An abnormal in the concentration of core 1 O-glycans on glycoproteins. hp0009lx5z Abnormal concentration of T-antigen owl:Class HP:0031275 biolink:NamedThing Distributive shock A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage hp0009lx5z 2017-08-12 20:59:01+00:00 Distribute shock is caused by inadequate cardiac preload due to vasodilatation and vascular leakage. Etiologies include postoperative SIRS, sepsis, anaphylactic reaction. peter owl:Class HP:0004900 biolink:NamedThing Severe lactic acidosis A severe form of lactic acidemia. hp0009lx5z UMLS:C1839436 human_phenotype owl:Class HP:0025284 biolink:NamedThing Sleep-interrupting Applied to pain that wakes the affecting individual from sleep. hp0009lx5z 2016-12-18 15:26:21+00:00 HPO:probinson owl:Class HP:0500258 biolink:NamedThing Abnormal carbon dioxide level in cord blood Abnormal amount of carbon dioxide in umbilical cord blood hp0009lx5z Abnormal CO2 level in cord blood|Abnormal umbilical cord blood levels of carbon dioxide 2019-04-23 17:10:09+00:00 owl:Class HP:0025069 biolink:NamedThing Concomitant strabismus Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing. hp0009lx5z Comitant strabismus 2016-09-26 10:29:59+00:00 HPO:probinson owl:Class HP:0006059 biolink:NamedThing Cone-shaped metacarpal epiphyses A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. hp0009lx5z Metacarpal cone-shaped epiphyses|Cone-shaped end part of long bone UMLS:C1855239 human_phenotype owl:Class HP:0032164 biolink:NamedThing Increased blood folate concentration An elevated circulating concentration of folic acid, which is also known as vitamin B9. hp0009lx5z 2018-12-09 14:04:29+00:00 peter owl:Class HP:0007065 biolink:NamedThing Disorganization of the anterior cerebellar vermis hp0009lx5z Disorganisation of the anterior cerebellar vermis UMLS:C1845369 owl:Class HP:0041185 biolink:NamedThing Fractured middle phalanx of manual digit 5 A partial or complete breakage of the middle phalanx of manual digit 5. hp0009lx5z bone middle phalanx of manual digit 5 owl:Class HP:0011928 biolink:NamedThing Short proximal phalanx of toe Developmental hypoplasia (shortening) of proximal phalanx of toe. hp0009lx5z Short innermost toe bone peter 2012-06-10T10:06:30Z UMLS:C4023123 human_phenotype owl:Class HP:0010507 biolink:NamedThing Foot asymmetry A difference in size or shape between the left and right foot. hp0009lx5z peter 2009-09-19T09:49:04Z UMLS:C4023799 human_phenotype owl:Class HP:0025572 biolink:NamedThing Punctal stenosis Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. hp0009lx5z Stenosis of the lacrimal punctum|Lacrimal punctum stenosis 2017-12-14 14:21:45+00:00 Epiphora is a common complaint encountered by ophthalmologists, with a broad differential diagnosis. One of the least discussed etiologies of epiphora is stenosis of the external lacrimal punctum. When it occurs, the most common presenting symptom is tearing, but patients may have vague complaints of ocular discomfort. HPO:probinson owl:Class HP:0100024 biolink:NamedThing Conspicuously happy disposition An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger. hp0009lx5z Happy aspect|Conspicious happy aspect doelkens 2010-05-28T05:32:35Z UMLS:C4021029 human_phenotype owl:Class HP:0007270 biolink:NamedThing Atypical absence seizure An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. hp0009lx5z Atypical absence seizures|Atypical petit mal seizures|Atypical absence in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. SNOMEDCT_US:23374007|UMLS:C0595948 human_phenotype owl:Class HP:0100743 biolink:NamedThing Neoplasm of the rectum hp0009lx5z Rectal tumour|Rectal tumor doelkens 2011-06-06T06:20:18Z UMLS:C0034885|NCIT:C3262|SNOMEDCT_US:126847008|MSH:D012004 owl:Class HP:0033069 biolink:NamedThing Renal interstitial IgG4+ plasma cell infiltration An increased number of IgG4+ plasma cells in the interstitial space of the kidney. hp0009lx5z IgG4-related tubulointerstitial nephritis is characterized by an increased number of IgG4+ plasma cells per high-power field on renal biopsy in addition to either elevated serum IgG4 or evidence of extra renal IgG4-related disease. peter owl:Class HP:0005863 biolink:NamedThing Type E brachydactyly In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. hp0009lx5z HP:0006115 UMLS:C1862102|MSH:C566194 human_phenotype owl:Class HP:0031195 biolink:NamedThing Apical hypertrabeculation of the left ventricle An increased number and density of the trabeculae in the apex (tip) of the left ventricle. hp0009lx5z 2017-06-24 14:15:22+00:00 peter owl:Class HP:0004734 biolink:NamedThing Renal cortical microcysts Cysts of microscopic size confined to the cortex of the kidney. hp0009lx5z Cortical microcysts|Multiple small renal cortical cysts|Multiple renal cortical microcysts HP:0000814 UMLS:C1865877 human_phenotype owl:Class HP:0004972 biolink:NamedThing Elevated mean arterial pressure An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. hp0009lx5z UMLS:C1840376 human_phenotype owl:Class HP:0004051 biolink:NamedThing Advanced ossification of the hand bones Ossification of hand bones at an earlier age than normal. hp0009lx5z Advanced maturation of the hand bones|Accelerated maturation of hand bones UMLS:C4020834 human_phenotype owl:Class HP:0032061 biolink:NamedThing Hypereosinophilia A severely increased count of eosinophils in the blood defined as a blood eosinophil count of 1.5 × 10e9/L or greater (one and a half billion cells per liter). hp0009lx5z 2018-09-16 11:54:44+00:00 peter owl:Class HP:0033707 biolink:NamedThing Perioral hyperkeratosis Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth. hp0009lx5z 2021-03-31 11:24:31+00:00 peter owl:Class HP:0009310 biolink:NamedThing Broad proximal phalanx of the 4th finger Increased width of the proximal phalanx of the 4th finger. hp0009lx5z Broad innermost ring finger bone doelkens 2009-01-08T05:11:48Z HP:0004201 UMLS:C4020660 human_phenotype owl:Class HP:0032458 biolink:NamedThing Narrowing of medullary canal A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located. hp0009lx5z Medullary cavity obliteration|Narrowing of the marrow cavity|Narrowing of bone marrow canal|Narrowing of bone medullary canal 2019-03-09 17:27:09+00:00 peter owl:Class HP:0004637 biolink:NamedThing Decreased cervical spine mobility hp0009lx5z Limited neck movement UMLS:C1859692 owl:Class HP:0005300 biolink:NamedThing Nodular inflammatory vasculitis hp0009lx5z UMLS:C4025219 human_phenotype owl:Class HP:0410374 biolink:NamedThing Abnormal proportion of naive CD8 T cells Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells. hp0009lx5z owl:Class HP:0025293 biolink:NamedThing Distributed along Blaschko lines Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body. hp0009lx5z 2016-12-18 16:16:24+00:00 HPO:probinson owl:Class HP:0041249 biolink:NamedThing Fractured nose A partial or complete breakage of the nose. hp0009lx5z bone nose owl:Class HP:0040219 biolink:NamedThing Absent natural killer cells Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis. hp0009lx5z Absent NK cells UMLS:C4073163 owl:Class HP:0006408 biolink:NamedThing Distal tapering femur hp0009lx5z Tapering of outermost end of thighbone UMLS:C4025049 owl:Class HP:0008176 biolink:NamedThing Neonatal unconjugated hyperbilirubinemia hp0009lx5z SNOMEDCT_US:281611002|UMLS:C0559506 human_phenotype owl:Class HP:0002392 biolink:NamedThing EEG with polyspike wave complexes The presence of complexes of repetitive spikes and waves in EEG. hp0009lx5z EEG: spike and multispike waves, 3-4 hz UMLS:C4021757 human_phenotype owl:Class HP:0007383 biolink:NamedThing Congenital localized absence of skin hp0009lx5z Congenital localised absence of skin|Congenital localised skin absence|Congenital localized skin absence HP:0007557 UMLS:C2673597 human_phenotype owl:Class HP:0033548 biolink:NamedThing Mesangial amyloid deposition Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. hp0009lx5z 2021-01-21 13:43:39+00:00 peter owl:Class HP:0200032 biolink:NamedThing Kayser-Fleischer ring Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. hp0009lx5z Fleischer-Struempell ring|Fleischer's ring|Fleischer-Kayser ring sebastiankohler 2010-06-24T12:30:24Z UMLS:C0152457|SNOMEDCT_US:77103006 human_phenotype owl:Class HP:0025321 biolink:NamedThing Copper accumulation in liver An anomalous build up of copper (Cu) in the liver. hp0009lx5z Liver copper accumulation 2017-02-03 11:46:21+00:00 HPO:probinson owl:Class HP:0012625 biolink:NamedThing Stage 3 chronic kidney disease A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). hp0009lx5z peter 2014-01-17T01:22:43Z UMLS:C2316787|SNOMEDCT_US:433144002 human_phenotype owl:Class HP:0041216 biolink:NamedThing Fractured distal epiphysis of distal phalanx of manual digit 1 A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1. hp0009lx5z bone distal epiphysis of distal phalanx of manual digit 1 owl:Class HP:0000026 biolink:NamedThing Male hypogonadism Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. hp0009lx5z Decreased function of male gonad HP:0008649 SNOMEDCT_US:48723006|UMLS:C0151721|MSH:D005058 human_phenotype owl:Class HP:0011678 biolink:NamedThing Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA). hp0009lx5z Major aortopulmonary collateral arteries (MACPAs) are arteries that develop to supply blood to the lungs when native pulmonary circulation is underdeveloped. That is, the blood supply to the lungs derives from the aorta rather than from the pulmonary artery. peter 2012-04-10T07:43:01Z UMLS:C4023234 human_phenotype owl:Class HP:0005850 biolink:NamedThing Congenital talipes calcaneovalgus hp0009lx5z MSH:D005413|SNOMEDCT_US:31668003|UMLS:C0152237|SNOMEDCT_US:205083002 human_phenotype owl:Class HP:0012015 biolink:NamedThing EEG with frontal focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. hp0009lx5z hecht 2012-07-20T12:02:12Z UMLS:C4023076 human_phenotype owl:Class HP:0031102 biolink:NamedThing Increased antimullerian hormone level An elevation above the normal range of the antimullerian hormone in the circulation. hp0009lx5z Increased plasma AMH 2017-05-30 02:37:15+00:00 peter owl:Class HP:0010913 biolink:NamedThing Hyperisoleucinemia An increased concentration of isoleucine in the blood. hp0009lx5z High blood isoleucine concentration Normal isoleucine blood levels are around 60-80 micromole per liter. peter 2010-12-08T08:49:42Z UMLS:C4023657 human_phenotype owl:Class HP:0007924 biolink:NamedThing Slow decrease in visual acuity hp0009lx5z Subacute deterioration of visual acuity|Decreased visual acuity, slowly progressive|Slow decrease in sharpness of vision HP:0007652 UMLS:C1853141|UMLS:C3278981 human_phenotype owl:Class HP:0000529 biolink:NamedThing Progressive visual loss A reduction of previously attained ability to see. hp0009lx5z Progressive visual acuity loss|Vision loss, progressive|Visual loss, progressive|Slowly progressive visual loss|Progressive vision loss|Loss of visual acuity|Decreased visual acuity, progressive|Progressive visual impairment|Progressive loss of vision HP:0007735|HP:0007753|HP:0007967|HP:0000560 UMLS:C3277697|UMLS:C1839364 human_phenotype owl:Class HP:0045086 biolink:NamedThing Knee joint hypermobility The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). hp0009lx5z Knee joint over-flexibility owl:Class HP:0005292 biolink:NamedThing Intimal thickening in the coronary arteries hp0009lx5z UMLS:C1968633 human_phenotype owl:Class HP:0012877 biolink:NamedThing Retrograde ejaculation The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm. hp0009lx5z hecht 2014-06-09T11:25:24Z SNOMEDCT_US:50112006|UMLS:C0403673 human_phenotype owl:Class HP:0030530 biolink:NamedThing Arcuate scotoma hp0009lx5z Arc-shaped blind spot SNOMEDCT_US:15462009|UMLS:C0271198|UMLS:C4280302|MSH:D012607 owl:Class HP:0009427 biolink:NamedThing Triangular shaped distal phalanx of the 3rd finger Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped outermost bone of the middle finger doelkens 2009-01-14T03:16:46Z UMLS:C4024370 human_phenotype owl:Class HP:0001694 biolink:NamedThing Right-to-left shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. hp0009lx5z UMLS:C0428871|SNOMEDCT_US:79692001 human_phenotype owl:Class HP:0001693 biolink:NamedThing Cardiac shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. hp0009lx5z UMLS:C0232180|SNOMEDCT_US:442119001 human_phenotype owl:Class HP:0000482 biolink:NamedThing Microcornea A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. hp0009lx5z Cornea of eye less than 10mm in diameter|Decreased corneal diameter Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood. HP:0100688 UMLS:C1167713|UMLS:C0266544|SNOMEDCT_US:26098002 human_phenotype owl:Class HP:0001492 biolink:NamedThing Axenfeld anomaly Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. hp0009lx5z MSH:C535679|SNOMEDCT_US:204152008|UMLS:C0266548 human_phenotype owl:Class HP:0500086 biolink:NamedThing Optic nerve gray crescent Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. hp0009lx5z Temporal gray pigmentary crescent|Optic nerve grey crescent|Temporal grey pigmentary crescent 2018-03-20 19:55:34+00:00 This type of disc rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. owl:Class HP:0012377 biolink:NamedThing Hemianopia Partial or complete loss of vision in one half of the visual field of one or both eyes. hp0009lx5z Hemianopsia peter 2013-10-13T07:55:21Z SNOMEDCT_US:77674003|MSH:D006423|UMLS:C0018979 human_phenotype owl:Class HP:0005626 biolink:NamedThing Posterior fusion of lumbosacral vertebrae Bony fusion of the posterior part of the L5 vertebral body with the sacrum. hp0009lx5z UMLS:C4025169 human_phenotype owl:Class HP:0030062 biolink:NamedThing Craniopharyngioma A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system. hp0009lx5z Patients may present with bitemporal inferior quadrantanopia leading to bitemporal hemianopia, since the tumor may compress the optic chiasm. SNOMEDCT_US:40009002|UMLS:C0010276|MSH:D003397|SNOMEDCT_US:189179009 owl:Class HP:0410383 biolink:NamedThing Abnormal proportion of effector memory CD8-positive, alpha-beta T cells An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z owl:Class HP:0002885 biolink:NamedThing Medulloblastoma A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. hp0009lx5z Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa and belonging to the family of cranial primitive neuroectodermal tumors. SNOMEDCT_US:443333004|NCIT:C3222|UMLS:C0025149|MSH:D008527|SNOMEDCT_US:83217000 human_phenotype owl:Class HP:0410299 biolink:NamedThing Decreased specific antibody response to polysaccharide vaccine A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:03:17+00:00 owl:Class HP:0033803 biolink:NamedThing Blistering with sub-lamina densa plane of cleavage A type of blistering in which the cleavage plane of blisters is located below the lamina densa. hp0009lx5z 2021-05-08 15:00:31+00:00 peter owl:Class HP:0031507 biolink:NamedThing Decreased circulating T4 level A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). hp0009lx5z Decreased circulating thyroxine level|Reduced T4 plasma level 2017-09-21 01:55:27+00:00 peter owl:Class HP:0020043 biolink:NamedThing Vertical incomitant strabismus A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. hp0009lx5z 2017-12-20 17:14:25+00:00 robinp owl:Class HP:0025228 biolink:NamedThing Triggered by sudden movement Applies to a sign or symptom that is provoked or brought about by a sudden movement. hp0009lx5z Sudden movement triggered symptoms|Kinesigenic|Triggered by sudden movement 2016-12-10 14:29:50+00:00 HPO:probinson owl:Class HP:0030460 biolink:NamedThing Abnormal timing of pattern reversal visual evoked potentials hp0009lx5z UMLS:C4072950 owl:Class HP:0002787 biolink:NamedThing Tracheal calcification Calcification (abnormal deposits of calcium) in the tracheal tissues. hp0009lx5z Tracheal ectopic calcification|Calcification of the trachea|Tracheal calcifications UMLS:C0264324|SNOMEDCT_US:81089005 human_phenotype owl:Class HP:0002812 biolink:NamedThing Coxa vara Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. hp0009lx5z The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired. UMLS:C0239138|SNOMEDCT_US:74820003|MSH:D060905 human_phenotype owl:Class HP:0005867 biolink:NamedThing Fused fourth and fifth metacarpals hp0009lx5z Fused 4th-5th long bones of hand|Fused 4th-5th metacarpals UMLS:C1859768 human_phenotype owl:Class HP:0012076 biolink:NamedThing Borderline personality disorder A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions. hp0009lx5z BPD hecht 2012-08-11T02:26:02Z ICD-10:F60.3|SNOMEDCT_US:20010003|UMLS:C0006012|MSH:D001883 human_phenotype owl:Class HP:0100706 biolink:NamedThing Abnormal oligodendroglia morphology One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers. hp0009lx5z Abnormality of the oligodendroglia doelkens 2011-04-03T02:34:15Z UMLS:C4021992 owl:Class HP:0001812 biolink:NamedThing Hyperconvex fingernails When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. hp0009lx5z Tubular fingernails HP:0008380 UMLS:C1844825 human_phenotype owl:Class HP:0033155 biolink:NamedThing Elevated circulating L-alloisoleucine concentration Abnormally increased concentration of L-alloisoleucine in the blood circulation. hp0009lx5z 2020-09-20 11:33:58+00:00 Elevated alloisoleucine in serum or urine is characteristic of Maple syrup urine disease. peter owl:Class HP:0009736 biolink:NamedThing Tibial pseudarthrosis Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life. hp0009lx5z Tibial pseudoarthrosis peter 2009-01-31T11:22:24Z UMLS:C4024216 owl:Class HP:0011067 biolink:NamedThing Mesiodens A supernumerary tooth in the midline between the maxillary central incisors. hp0009lx5z Midline supernumary tooth|Extra tooth in the midline|Mesiodentes|Median supernumary tooth|Extra tooth A mesiodens is not a supernumerary incisor (i.e., it does not have the morphology of an incisor). Rather, it is a conoid, extra tooth located between the maxillary central incisors. Mesiodens is the most common supernumerary tooth. Typically, they are small. They are usually conical in shape but may have heterogeneous forms. Mesiodens may remain unerupted and cause failure of a permanent incisor to erupt. Mesiodens may develop in an inverted position. peter 2011-03-10T02:38:59Z UMLS:C0040457|UMLS:C4280340|MSH:D014096|UMLS:C0266030|SNOMEDCT_US:367534004|SNOMEDCT_US:17802000|SNOMEDCT_US:266414008|SNOMEDCT_US:8666004 owl:Class HP:0012066 biolink:NamedThing Increased urinary disaccharide excretion Increased concentration of disaccharide in the urine. hp0009lx5z Excess amount of disaccharides such as mannosyl-N-acetylglucosamine excreted in the urine. hecht 2012-08-04T02:54:28Z UMLS:C4023062 human_phenotype owl:Class HP:0011336 biolink:NamedThing Bitemporal forceps marks Bilateral temporal scarlike defects, which are said to resemble forceps marks. hp0009lx5z Congenital, bilateral, scarlike facial lesions|Temporal skin defect|Congenital ectodermal dysplasia of the face|Bitemporal aplasia cutis congenita|Focal facial dermal dysplasia Congenital, bilateral, scarlike facial lesions have been reported under several titles, such as hereditary symmetric systemic aplastic nevi, congenital ectodermal dysplasia of the face, familial focal facial dermal dysplasia, bitemporal aplasia cutis congenita, and focal facial dermal dysplasia (FFDD). The findings are congenital, bilateral scarlike facial lesions in the preauricular or cheek areas. The lesions may present as slightly depressed hypopigmented scarlike oval plaques measuring about 1 cm and may have a surrounding rim of fine lanugo-like hair. Skin biopsy can reveal an atrophic epidermis with a thinned dermis devoid of adnexal structures. Elastic fibers are absent in the affected areas, as can be shown by Verhoeff-van Giesen staining. peter 2012-02-25T05:25:36Z UMLS:C4023409|UMLS:C4020754 human_phenotype owl:Class HP:0100757 biolink:NamedThing Pancreatoblastoma A rare pediatric carcinoma of the pancreas. hp0009lx5z doelkens 2011-06-07T10:05:52Z UMLS:C0334489|MSH:C537162|SNOMEDCT_US:53618008 human_phenotype owl:Class HP:0009761 biolink:NamedThing Anterior clefting of vertebral bodies Anterior schisis (cleft or cleavage) of vertebral bodies. hp0009lx5z peter 2009-01-31T10:40:39Z UMLS:C1849579 human_phenotype owl:Class HP:0009433 biolink:NamedThing Osteolytic defects of the middle phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger. hp0009lx5z doelkens 2009-01-14T03:41:31Z UMLS:C4024365 human_phenotype owl:Class HP:0001060 biolink:NamedThing Axillary pterygium Presence of a cutaneous membrane (flap) in the armpit. hp0009lx5z Axillary pterygia UMLS:C1844738 human_phenotype owl:Class HP:0100820 biolink:NamedThing Glomerulopathy Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. hp0009lx5z Diseased glomeruli doelkens 2011-06-09T04:59:55Z SNOMEDCT_US:197679002|UMLS:C0268731 human_phenotype owl:Class HP:0007710 biolink:NamedThing Peripheral vitreous opacities hp0009lx5z UMLS:C4024811 human_phenotype owl:Class HP:0100363 biolink:NamedThing Aplasia of the phalanges of the 4th toe hp0009lx5z Absent bones of the 4th toe UMLS:C4022124 human_phenotype owl:Class HP:0009583 biolink:NamedThing Curved proximal phalanx of the 2nd finger Curved appearance of the proximal phalanx of the 2nd finger. hp0009lx5z Curved innermost bone of index finger doelkens 2009-01-28T05:26:39Z UMLS:C4024279 human_phenotype owl:Class HP:0007774 biolink:NamedThing Hypoplasia of the ciliary body Underdevelopment of the ciliary body. hp0009lx5z UMLS:C1836890 human_phenotype owl:Class HP:0030822 biolink:NamedThing Hooded upper eyelid Upper eyelid partly covered by skin when eyes are open. hp0009lx5z UMLS:C4280749 owl:Class HP:0032784 biolink:NamedThing Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0009064 biolink:NamedThing Generalized lipodystrophy Generalized degenerative changes of the fat tissue. hp0009lx5z Generalised lipodystrophy|Lipodystrophy, generalised|Lipodystrophy, generalized HP:0008966 SNOMEDCT_US:86907008|UMLS:C0221032|MSH:D052497|SNOMEDCT_US:284449005 human_phenotype owl:Class HP:0031649 biolink:NamedThing Aortic rupture Tearing of the aortic wall generally associated with profuse internal bleeding. hp0009lx5z 2017-12-17 15:01:47+00:00 peter owl:Class HP:0011271 biolink:NamedThing Prominent tragus Increase posterolateral protrusion of the tragus. hp0009lx5z Large tragus|Hypertrophic tragus|Enlarged tragus|Tragus, prominent|Hyperplastic tragus 2011-12-18T07:59:22Z UMLS:C4021171 human_phenotype owl:Class HP:0033402 biolink:NamedThing Digital ischemia Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. hp0009lx5z 2021-01-09 15:17:21+00:00 peter owl:Class HP:0006657 biolink:NamedThing Hypoplasia of first ribs hp0009lx5z Hypoplastic first ribs|Hypoplastic first rib|Underdeveloped first rib|Small first rib HP:0006614|HP:0006653 UMLS:C1834386 human_phenotype owl:Class HP:0032715 biolink:NamedThing Focal bilateral motor seizure A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset. hp0009lx5z Not to be confused with a focal to bilateral tonic-clonic seizure (to which it may progress). Certain frontal lobe seizure sub-types have bilateral motor features at onset, often with asymmetric posturing. Typically, there is extension of the upper limb (at the elbow) contralateral to the hemisphere of seizure onset (often with a clenched fist and flexion at the wrist) and flexion of the ipsilateral upper limb at the elbow. This type of seizure is also described as a 'fencer's posture' or a 'figure of 4'. peter owl:Class HP:0007569 biolink:NamedThing Generalized seborrheic dermatitis Seborrheic dermatitis that is not localized to any one particular region. hp0009lx5z Generalised seborrheic eczema|Generalized seborrheic eczema|Generalised seborrheic dermatitis UMLS:C4024844 human_phenotype owl:Class HP:0001051 biolink:NamedThing Seborrheic dermatitis Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. hp0009lx5z Dysseborrheic dermatitis|Seborrheic eczema|Seborrhea Dandruff. HP:0007562 SNOMEDCT_US:86708008|MSH:D012628|SNOMEDCT_US:50563003|UMLS:C3806554|UMLS:C0036508 human_phenotype owl:Class HP:0032087 biolink:NamedThing Aortic laminar medial collapse Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers. hp0009lx5z 2018-10-14 15:03:08+00:00 Laminar medial collapse replaces the old term laminar medial necrosis and is to be used only when an elastic stain has demonstrated elastic fiber compaction. Laminar medial collapse appears as a darker band on an elastic stain as a result of a significant loss of intermixed smooth muscle cells. peter owl:Class HP:0000958 biolink:NamedThing Dry skin Skin characterized by the lack of natural or normal moisture. hp0009lx5z Xerosis|Dry skin SNOMEDCT_US:16386004|MEDDRA:10048222|UMLS:C0259817|UMLS:C0151908 human_phenotype owl:Class HP:0010826 biolink:NamedThing Abnormality of the twelfth cranial nerve Abnormality of the twelfth cranial nerve. hp0009lx5z Abnormality of cranial nerve xii|Abnormality of the hypoglossal nerve|Abnormality of cranial nerve 12 peter 2010-07-10T03:58:00Z UMLS:C4021224 human_phenotype owl:Class HP:3000075 biolink:NamedThing Abnormal lingual nerve morphology Any structural anomaly of a lingual nerve. hp0009lx5z Abnormality of lingual nerve The lingual nerve (LN) is one of the two terminal branches of the posterior division of the mandibular nerve. It supplies the general sensation to the mucosa of the anterior two-thirds of the tongue, the sublingual mucosa, the mandibular lingual gingiva and the floor of the mouth.The chorda tympani nerve, a branch of the facial nerve joins this nerve carrying taste fibers from the anterior two third of the tongue and parasympathetic fibers to the submandibular ganglion. vasilevs 2015-08-07T03:39:10Z UMLS:C4073282 human_phenotype owl:Class HP:0006273 biolink:NamedThing Pancreatic lymphangiectasis The presence of lymphangiectasis in the pancreas. hp0009lx5z UMLS:C1856162 human_phenotype owl:Class HP:0040309 biolink:NamedThing Increased size of the mandible hp0009lx5z Large jaw owl:Class HP:0010779 biolink:NamedThing Large pelvis bone The presence of an abnormally large pelvis. hp0009lx5z Large pelvis bone|Large pelvis sdoelken 2010-04-29T11:03:39Z UMLS:C4072882|UMLS:C4019074 human_phenotype owl:Class HP:0040242 biolink:NamedThing Muscle hemorrhage Bleeding occuring within a muscle hp0009lx5z Muscle haemorrhage SNOMEDCT_US:95422003|UMLS:C0151702 owl:Class HP:0040033 biolink:NamedThing Aplasia/Hypoplasia of the fifth metatarsal bone hp0009lx5z Absent/small 5th long bone of foot|Absent/underdeveloped 5th long bone of foot HPO:skoehler UMLS:C4022480 owl:Class HP:0004369 biolink:NamedThing Decreased circulating purine concentration Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. hp0009lx5z Decreased purine levels|Decreased purine level peter 2008-03-18T06:32:00Z UMLS:C4025331 owl:Class HP:0004352 biolink:NamedThing Abnormal circulating purine concentration Any deviation from the normal concentration of a purine in the blood circulation. hp0009lx5z Abnormal circulating purine level Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine. peter 2008-03-17T01:04:00Z UMLS:C4025346 owl:Class HP:0012410 biolink:NamedThing Pure red cell aplasia A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction. hp0009lx5z Red cell aplasia Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes. peter 2013-11-10T11:36:59Z SNOMEDCT_US:50715003|UMLS:C0034902|MSH:D012010 human_phenotype owl:Class HP:0031448 biolink:NamedThing Herpetiform vesicles Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles. hp0009lx5z 2017-09-17 14:44:17+00:00 peter owl:Class HP:0100870 biolink:NamedThing Plantar telangiectasia Telangiectases (small dilated blood vessels) located on the skin of sole of foot. hp0009lx5z Teleangiectases of soles|Telangiectases of soles|Plantar teleangiectasia doelkens 2011-11-30T11:19:59Z UMLS:C4020947 human_phenotype owl:Class HP:0006092 biolink:NamedThing Malaligned carpal bone Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). hp0009lx5z Incorrect alignment of wrist bone UMLS:C1856742 human_phenotype owl:Class HP:0011311 biolink:NamedThing Sydney crease Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm. hp0009lx5z The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm. hecht 2012-02-12T12:58:13Z UMLS:C4023420 human_phenotype owl:Class HP:0007574 biolink:NamedThing Generalized bronze hyperpigmentation hp0009lx5z Generalised bronze hyperpigmentation|Bronze skin UMLS:C4024842|UMLS:C2939074 human_phenotype owl:Class HP:0007440 biolink:NamedThing Generalized hyperpigmentation hp0009lx5z Generalised hyperpigmentation HP:0007540 UMLS:C4024878 human_phenotype owl:Class HP:0025430 biolink:NamedThing High-pitched cry A type of crying in an abnormally high-pitched voice. hp0009lx5z 2017-04-23 12:59:43+00:00 This type of cry may be observed with cerebral irritability due to factors such as meningitis, hydrocephalus, or kernicterus. High-pitched cry may also be observed with other conditions including Cornelia-de-Lange syndrome. HPO:probinson owl:Class HP:0012800 biolink:NamedThing Accessory cranial suture A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. hp0009lx5z Extra fontanelle|Accessory fontanelle|Extra cranial suture|Supernumary cranial suture|Supernumary fontanelle The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers. Accessory sutures can be explained on the basis of incomplete union of the two separate ossification centers. Accessory sutures usually will show a zigzag pattern with interdigitations and sclerotic borders similar to major calvarial sutures. hecht 2014-05-25T10:54:52Z UMLS:C4021067|UMLS:C4022927 human_phenotype owl:Class HP:0020209 biolink:NamedThing Hot water-induced seizure A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger. hp0009lx5z robinp 2020-02-24 13:40:34+00:00 owl:Class HP:0005256 biolink:NamedThing Unilateral absence of pectoralis major muscle Aplasia (congenital absence) of the pectoralis minor on only one side of the chest. hp0009lx5z Unilateral aplasia of pectoralis major muscle UMLS:C4021639 human_phenotype owl:Class HP:5000036 biolink:NamedThing Anti-TRIM9/TRIM67 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67. hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0020125 biolink:NamedThing Spontaneous conjunctival filtering bleb Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma. hp0009lx5z Conjunctival avascular cysts (filtering blebs)|Spontaneous filtering bleb robinp 2019-07-02 22:49:55+00:00 owl:Class HP:0030267 biolink:NamedThing Calcification of the interosseus membrane of the forearm Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna. hp0009lx5z UMLS:C4022549 owl:Class HP:0010508 biolink:NamedThing Metatarsus valgus A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. hp0009lx5z peter 2009-09-19T09:59:48Z MSH:D000070591|UMLS:C4082144 human_phenotype owl:Class HP:0032752 biolink:NamedThing Focal impaired awareness emotional seizure with fear/anxiety/panic Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0008050 biolink:NamedThing Abnormality of the palpebral fissures An anomaly of the space between the medial and lateral canthi of the two open eyelids. hp0009lx5z Abnormality of the opening between the eyelids|Deformity of the palpebral fissures|Malformation of the palpebral fissures|Abnormality of the palpebral fissures peter 2008-04-02T01:22:00Z UMLS:C4024750 human_phenotype owl:Class HP:0031592 biolink:NamedThing Situs inversus with levocardia Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia. hp0009lx5z 2017-10-15 13:19:50+00:00 peter owl:Class HP:0000668 biolink:NamedThing Hypodontia The absence of five or less teeth from the normal series by a failure to develop. hp0009lx5z Failure of development of between one and six teeth|Missing between one and six teeth Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. UMLS:C0020608|MSH:D000848|SNOMEDCT_US:64969001 owl:Class HP:0032847 biolink:NamedThing Focal impaired awareness hemifacial clonic seizure Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0011427 biolink:NamedThing Enlarged fetal cisterna magna The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637). hp0009lx5z Enlarged foetal cisterna magna peter 2012-03-17T07:03:07Z UMLS:C4023365 human_phenotype owl:Class HP:0009673 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the thumb The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. hp0009lx5z Speckled calcifications in end part of thumb innermost long bone doelkens 2009-01-30T09:17:13Z UMLS:C4024244 human_phenotype owl:Class HP:0006729 biolink:NamedThing Retroperitoneal chemodectomas hp0009lx5z UMLS:C4024987|NCIT:C3308 human_phenotype owl:Class HP:0033573 biolink:NamedThing Anti-H4 antibody positivity The presence of autoantibodies in the blood circulation that react against histone H4. hp0009lx5z 2021-01-24 13:56:03+00:00 peter owl:Class HP:5000048 biolink:NamedThing Anti-Kv1.4 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4. hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0025306 biolink:NamedThing Acute emergence over minutes Acute appearance of disease manifestations in a period of minutes. hp0009lx5z 2016-12-21 01:00:35+00:00 HPO:probinson owl:Class HP:0008326 biolink:NamedThing Reduced circulating vitamin B6 level An abnormally decreased concentration of vitamin B6 in the blood circulation. hp0009lx5z Vitamin B6 deficiency|Reduced vitamin b6 levels MSH:D026681|UMLS:C0936215|SNOMEDCT_US:386080007 human_phenotype owl:Class HP:0006785 biolink:NamedThing Limb-girdle muscular dystrophy Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). hp0009lx5z limb girdle muscular dystrophy HP:0009066 MSH:D049288|UMLS:C0686353|SNOMEDCT_US:93153005 human_phenotype owl:Class HP:0032347 biolink:NamedThing Cutaneous macular amyloidosis A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern. hp0009lx5z Macular amyloidosis 2019-02-23 16:26:56+00:00 Two types of keratotic amyloidosis have been identified: macular and lichen amyloidosis, and the latter is more common. In keratotic amyloidosis, keratin depositions originating from basal keratinocyte are mainly CK5 positive. peter owl:Class HP:0100141 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 3rd toe hp0009lx5z Increased bone density of end part of the outermost bone of the 3rd toe doelkens 2010-06-24T10:23:44Z UMLS:C4022280 human_phenotype owl:Class HP:0030258 biolink:NamedThing Hyperpigmented genitalia Localized or generalized increased genital pigmentation. hp0009lx5z Penile melanosis|Increased genital pigmentation This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hyperpigmentation can affect other parts of the body or be restricted to the genitalia. Genital hyperpigmentation can be generalized or localized. Localized areas of hyperpigmentation of the glans of the penis are especially common. This should be differentiated from Freckled genitalia in which one or more small, focal areas of hyperpigmentation are present. Localized hyperpigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hyperpigmentation may be more difficult to determine and is therefore a subjective manifestation. If the finding is localized, the description should be appended with a description of the affected part(s). UMLS:C4020713|UMLS:C4022554 owl:Class HP:0031445 biolink:NamedThing Oral mucosa nodule A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth. hp0009lx5z 2017-09-17 14:16:57+00:00 peter owl:Class HP:0030639 biolink:NamedThing Congenital stationary night blindness with abnormal fundus hp0009lx5z UMLS:C4073106 owl:Class HP:0100940 biolink:NamedThing Sclerosis of the distal phalanx of the 3rd toe An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z Increased bone density in the outermost bone of the 3rd toe UMLS:C4021918 human_phenotype owl:Class HP:0011511 biolink:NamedThing Macular schisis Splitting of the retina in the macular region. hp0009lx5z This abnormality can be seen in X-linked retinoschisis. peter 2012-04-06T09:55:43Z UMLS:C4023321 human_phenotype owl:Class HP:0012451 biolink:NamedThing Acute constipation Constipation of sudden onset and lasting for less than three months. hp0009lx5z peter 2013-11-23T04:06:37Z UMLS:C0401148|SNOMEDCT_US:197119006 human_phenotype owl:Class HP:0002019 biolink:NamedThing Constipation Infrequent or difficult evacuation of feces. hp0009lx5z Constipation|Dyschezia|Costiveness HP:0002241|HP:0003786 SNOMEDCT_US:14760008|SNOMEDCT_US:225595004|UMLS:C0009806|MSH:D003248|UMLS:C0237326 human_phenotype owl:Class HP:0410355 biolink:NamedThing Decreased sialylated N-glycan level An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins. hp0009lx5z Decreased concentration of sialylated N-glycans on glycoproteins owl:Class HP:0025236 biolink:NamedThing Somnambulism Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated. hp0009lx5z Sleep walking 2016-12-14 12:01:00+00:00 During an episode of sleepwalking, the sonambulating child typically appears clumsy and might perform unusual actions such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or after leaving the house. HPO:probinson owl:Class HP:0005129 biolink:NamedThing Congenital hypertrophy of left ventricle hp0009lx5z UMLS:C1855901 owl:Class HP:0100818 biolink:NamedThing Long thorax Increased inferior to superior extent of the thorax. hp0009lx5z Long rib cage doelkens 2011-06-09T04:51:15Z UMLS:C0575484|SNOMEDCT_US:298710001 human_phenotype owl:Class HP:0033662 biolink:NamedThing Air bronchogram An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma). hp0009lx5z 2021-02-27 14:36:01+00:00 See Figure 2 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0004383 biolink:NamedThing Hypoplastic left heart Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. hp0009lx5z Heart left ventricle hypoplasia|Left ventricular hypoplasia|Underdeveloped left heart Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes. peter 2008-03-18T08:56:00Z SNOMEDCT_US:62067003|MSH:D018636|UMLS:C0152101 human_phenotype owl:Class HP:0001621 biolink:NamedThing Weak voice Reduced intensity (volume) of speech. hp0009lx5z Soft voice|Weak voice|Hypophonia Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization. MSH:D014832|SNOMEDCT_US:8614008|SNOMEDCT_US:34527004|UMLS:C0521007|UMLS:C0241700 human_phenotype owl:Class HP:0500264 biolink:NamedThing Increased helper T cell proportion Increased proportion of helper T cells relative to the total number of T cells. hp0009lx5z Elevated helper T cell proportion|Increased proportion T-helper cells 2020-05-15 19:19:04+00:00 owl:Class HP:0030308 biolink:NamedThing Flared distal tibial metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia. hp0009lx5z Flared outermost metaphysis of shankbone|Flared outermost metaphysis of shinbone UMLS:C4022519 owl:Class HP:0032674 biolink:NamedThing Cutaneous wound A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. hp0009lx5z Skin wound peter owl:Class HP:0011816 biolink:NamedThing Parietal encephalocele An encephalocele located between bregma and lambda. hp0009lx5z peter 2012-04-29T09:07:38Z UMLS:C0431294|SNOMEDCT_US:253109005 human_phenotype owl:Class HP:0012765 biolink:NamedThing Widened cerebellar subarachnoid space An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum. hp0009lx5z hecht 2014-04-06T11:06:46Z UMLS:C4022734 human_phenotype owl:Class HP:0012704 biolink:NamedThing Widened subarachnoid space An increase in size of the anatomic space between the arachnoid membrane and pia mater. hp0009lx5z Enlarged subarachnoid space|Widened subarachnoid spaces peter 2014-03-22T07:59:21Z UMLS:C1846151 human_phenotype owl:Class HP:0100613 biolink:NamedThing Death in early adulthood Death between the age of 16 and 40 years. hp0009lx5z Death in early adulthood doelkens 2010-12-28T11:12:21Z UMLS:C4022012 owl:Class HP:0008733 biolink:NamedThing Dysplastic testes hp0009lx5z UMLS:C1837380 human_phenotype owl:Class HP:0010690 biolink:NamedThing Mirror image hand polydactyly Mirror image duplication of digits affecting the hands only. hp0009lx5z Mirror image dupliction of fingers doelkens 2010-03-05T05:05:05Z UMLS:C4021239 human_phenotype owl:Class HP:0011644 biolink:NamedThing Coronary sinus diverticulum A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus. hp0009lx5z Diverticulum of the coronary sinus peter 2012-04-09T09:12:28Z UMLS:C3163894|SNOMEDCT_US:447661004 human_phenotype owl:Class HP:0030195 biolink:NamedThing Fatigable weakness of swallowing muscles A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. hp0009lx5z UMLS:C4022588 owl:Class HP:0012626 biolink:NamedThing Stage 4 chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). hp0009lx5z Stage 4 chronic kidney disease peter 2014-01-17T01:23:43Z SNOMEDCT_US:431857002|UMLS:C2317473 human_phenotype owl:Class HP:0033060 biolink:NamedThing Decreased serum complement C5 A reduced level of the complement component C5 in the blood circulation. hp0009lx5z Human C5 complement is a plasma glycoprotein (MW:196 kDa) composed of two disulfide-bound polypeptidechains (C5alpha and C5beta). The C5 coding gene is located on chromosome 9q34.1 and spans a genomic region of 79 kb. Its open reading frame,composed of 41 exons, codes for C5alpha (exons 1-16) and C5beta (exons 17-41) and gives rise to a 6 kb mRNA translated into a pre-C5 protein which is processed into the mature, two-chain C5 form by the removal of the RPRR region. peter owl:Class HP:0012742 biolink:NamedThing Thin fingernail Fingernail that appears thin when viewed on end. hp0009lx5z Thin fingernail No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. peter 2014-03-23T04:47:40Z HP:0040037 UMLS:C4022750 human_phenotype owl:Class HP:0033795 biolink:NamedThing Growth without growth hormone hp0009lx5z 2021-05-09 11:28:27+00:00 Growth hormone (GH) is essential for normal growth. However, cases of normal growth without GH may occur. The mechanism of growth without GH remains still unclear. However, regarding normal growth without GH arising after brain surgery, hypothalamic damage caused by the brain surgery is thought to induce obesity, and the resulting hyperinsulinemia and/or hyperprolactinemia are assumed to be important mechanisms of normal growth without GH in postsurgery patients. It is assumed that elevated insulin and/or prolactin concentration normalize IGF-1 levels even in GHD patients, restricts the increase in serum levels of IGFBP-3, and changes the distribution of circulating IGF-1. Thus, normal growth without GH continues because of the effects of IFG-I, which are independent of GH. peter owl:Class HP:0001029 biolink:NamedThing Poikiloderma Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. hp0009lx5z Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes. UMLS:C0392777|SNOMEDCT_US:70114006|MEDDRA:10057041|SNOMEDCT_US:402685001 human_phenotype owl:Class HP:0033978 biolink:NamedThing Reduced beta-hexosaminidase activity Diminished activity of the enzyme beta-hexosaminidase in the blood circulation. hp0009lx5z 2021-06-25 14:10:29+00:00 peter owl:Class HP:0012789 biolink:NamedThing Hypoplasia of the calcaneus Underdevelopment of the heel bone. hp0009lx5z Small heel bone|Underdeveloped heel bone|Hypoplastic calcaneus peter 2014-04-22T09:58:48Z UMLS:C3550873 human_phenotype owl:Class HP:0003296 biolink:NamedThing Hyperthreoninuria An increased concentration of threonine in the urine. hp0009lx5z High urine threonine levels Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours. UMLS:C2673931 human_phenotype owl:Class HP:0033096 biolink:NamedThing Increased aspartate family amino acid level in urine An elevated level of an aspartate family amino acid in the urine. hp0009lx5z peter owl:Class HP:0005535 biolink:NamedThing Exercise-induced hemolysis A form of hemolytic anemia that can be triggered by exertion. hp0009lx5z UMLS:C4025182 human_phenotype owl:Class HP:0010301 biolink:NamedThing Spinal dysraphism A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. hp0009lx5z Incomplete closure of the vertebral arch Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism includ spina bifida occulta. peter 2009-07-12T12:58:04Z SNOMEDCT_US:253098009|UMLS:C0027794|MSH:D009436 human_phenotype owl:Class HP:0005033 biolink:NamedThing Distal ulnar hypoplasia Underdevelopment of the distal portion of the ulna. hp0009lx5z Hypoplastic distal ulna|Distal shortening of ulna HP:0006474 UMLS:C1833145 human_phenotype owl:Class HP:0030401 biolink:NamedThing Abnormal platelet dense granule ATP/ADP ratio Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets. hp0009lx5z UMLS:C4072934 owl:Class HP:0011262 biolink:NamedThing Crimped helix Linear, circumferential indentation in the convexity of the outer surface of the helix. hp0009lx5z Helix, crimped|Indented helix The crimp is usually found in the middle third of the descending helix. The helix has the appearance of having been pinched or flattened along its posterior margin. The crimp may distort the free margin of the helix. peter 2011-12-18T06:19:33Z UMLS:C4021178 human_phenotype owl:Class HP:0009495 biolink:NamedThing Pseudoepiphyses of the 2nd finger A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z Accessory index finger phalanges doelkens 2009-01-16T01:07:16Z HP:0006142|HP:0004107 UMLS:C4021465 human_phenotype owl:Class HP:0032363 biolink:NamedThing Decreased circulating corticosterone level An abnormally reduced concentration of corticosterone in the blood. hp0009lx5z 2019-02-23 17:31:39+00:00 peter owl:Class HP:0025268 biolink:NamedThing Stuttering Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds. hp0009lx5z Stuttering|Stammering 2016-12-18 13:27:31+00:00 HPO:probinson owl:Class HP:0045043 biolink:NamedThing Decreased serum complement C4a A reduced level of the complement component C4a in circulation. hp0009lx5z C4a deficiency|Complement component 4A deficiency HPO:skoehler UMLS:C4073170 owl:Class HP:0010596 biolink:NamedThing Abnormality of the proximal radial epiphysis Any abnormality of the proximal epiphysis of the radius. hp0009lx5z sandra1 2009-10-22T03:06:29Z UMLS:C4023777 human_phenotype owl:Class HP:0011994 biolink:NamedThing Abnormal atrial septum morphology An abnormality of the interatrial septum. hp0009lx5z Abnormal interatrial septum morphology|Abnormality of the atrial septum peter 2012-07-19T11:34:27Z SNOMEDCT_US:253363004|Fyler:2002|UMLS:C0344722 human_phenotype owl:Class HP:0006880 biolink:NamedThing Cerebellar hemangioblastoma A hemangioblastoma of the cerebellum. hp0009lx5z Hemangioblastoma, sporadic cerebellar HP:0006761 NCIT:C3801|UMLS:C1332900 human_phenotype owl:Class HP:0012126 biolink:NamedThing Stomach cancer A cancer arising in any part of the stomach. hp0009lx5z Gastric cancer hecht 2012-09-16T06:45:29Z UMLS:C0699791|SNOMEDCT_US:372143007 human_phenotype owl:Class HP:0030231 biolink:NamedThing Glycogen accumulation in muscle fiber lysosomes An increased amount of glycogen in muscle tissue found specifically in lysosomes. hp0009lx5z Glycogen accumulation in muscle fibre lysosomes UMLS:C4022567 owl:Class HP:0030330 biolink:NamedThing Multinucleated giant chondrocytes in epiphyseal cartilage The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage. hp0009lx5z UMLS:C4022506 owl:Class HP:0005609 biolink:NamedThing Gallbladder dysfunction hp0009lx5z Gallbladder dysfunction UMLS:C0232769|SNOMEDCT_US:51047007 human_phenotype owl:Class HP:0012438 biolink:NamedThing Abnormal gallbladder physiology A functional anomaly of the gallbladder. hp0009lx5z peter 2013-11-23T01:17:00Z UMLS:C4022903 human_phenotype owl:Class HP:0032893 biolink:NamedThing Gastroenteritis-related afebrile seizure Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause. hp0009lx5z Most typically these seizures have been studied in children between the ages of six months and three years. They often occur in clusters. peter owl:Class HP:0000778 biolink:NamedThing Hypoplasia of the thymus Underdevelopment of the thymus. hp0009lx5z Thymus hypoplasia|Small thymus|Thymic hypoplasia UMLS:C4228227|UMLS:C0685891|SNOMEDCT_US:93297002 owl:Class HP:0006944 biolink:NamedThing Abolished vibration sense A complete loss of the ability to perceive vibration. hp0009lx5z Apallesthesia UMLS:C1837520 owl:Class HP:0001013 biolink:NamedThing Eruptive xanthomas Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. hp0009lx5z Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia. UMLS:C0221252|SNOMEDCT_US:238952003 human_phenotype owl:Class HP:0031946 biolink:NamedThing Elevated urinary N,N-dimethylglycine level An increased concentration of N,N-dimethylglycine in the urine. hp0009lx5z 2018-07-06 11:59:21+00:00 peter owl:Class HP:0002914 biolink:NamedThing Hyperchloriduria An increased concentration of chloride in the urine. hp0009lx5z Increased urinary chloride UMLS:C1846352 human_phenotype owl:Class HP:0000916 biolink:NamedThing Broad clavicles Increased width (cross-sectional diameter) of the clavicles. hp0009lx5z Broad collarbone HP:0006651 UMLS:C0426801|SNOMEDCT_US:249680009 human_phenotype owl:Class HP:0041119 biolink:NamedThing Fractured metacarpus skeleton A partial or complete breakage of the metacarpus skeleton. hp0009lx5z bone metacarpus skeleton owl:Class HP:0025022 biolink:NamedThing Decreased erythrocyte sedimentation rate A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. hp0009lx5z Low ESR|Decreased ESR 2016-08-22 10:39:06+00:00 HPO:probinson owl:Class HP:0025021 biolink:NamedThing Abnormal erythrocyte sedimentation rate A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. hp0009lx5z Abnormal ESR|Abnormal Westergren sedimentation rate 2016-08-22 10:26:22+00:00 HPO:probinson owl:Class HP:0030051 biolink:NamedThing Tip-toe gait An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. hp0009lx5z Walking on tiptoes Heel-to-toe gait is normally achieved in children around three years of age, after which tip-toe gait must be differentiated from habitual toe gait, congenital short tendo calcaneus, cerebral palsy, syringomyelia, spinal tumor, hematoma in a lower limb muscle, or neuromuscular diseases like muscular dystrophy, Charcot-Marie-Tooth disease and hereditary sensorimotor neuropathies. If the toe gait persists for 2-3 years, this gait pattern is not considered to be habitual. Therefore, the judgment of habitual toe gait should not be determined without evaluation for other diseases. HP:0002394 UMLS:C1843570 owl:Class HP:0032919 biolink:NamedThing Focal aware head nodding automatism seizure A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0008472 biolink:NamedThing Prominent protruding coccyx hp0009lx5z Prominent protruding tailbone|Large tailbone UMLS:C1850044|UMLS:C4280412 human_phenotype owl:Class HP:0004419 biolink:NamedThing Recurrent thrombophlebitis Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). hp0009lx5z Recurrent phlebitis|Recurrent thrombosis peter 2008-03-18T09:31:00Z UMLS:C3550150 human_phenotype owl:Class HP:0004418 biolink:NamedThing Thrombophlebitis Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). hp0009lx5z peter 2008-03-18T09:30:00Z MSH:D013924|UMLS:C0040046|SNOMEDCT_US:64156001 human_phenotype owl:Class HP:0008817 biolink:NamedThing Aplastic pubic bones hp0009lx5z Absent pubic bones UMLS:C1848660 human_phenotype owl:Class HP:0000832 biolink:NamedThing Primary hypothyroidism A type of hypothyroidism that results from a defect in the thyroid gland. hp0009lx5z SNOMEDCT_US:111566002|UMLS:C0700502 human_phenotype owl:Class HP:0003177 biolink:NamedThing Squared iliac bones A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. hp0009lx5z Squaring of iliac bones|Square iliac bones UMLS:C1838186 human_phenotype owl:Class HP:0025587 biolink:NamedThing Hyperdeviation A type of strabismus in which the visual axis of one eye is higher than that of the other. hp0009lx5z 2018-01-13 19:45:45+00:00 Hyperphoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypertropia is a manifest deviation in which the eyes are not aligned under binocular conditions. HPO:probinson owl:Class HP:0033980 biolink:NamedThing Paroxysmal tonic upgaze Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness. hp0009lx5z 2021-07-15 11:36:24+00:00 peter owl:Class HP:0003259 biolink:NamedThing Elevated circulating creatinine concentration An increased amount of creatinine in the blood. hp0009lx5z Elevated serum creatinine|Increased creatinine|Increased serum creatinine|High blood creatinine level|Elevated creatinine HP:0003227 SNOMEDCT_US:166717003|UMLS:C0700225 owl:Class HP:0001898 biolink:NamedThing Increased red blood cell mass The presence of an increased mass of red blood cells in the circulation. hp0009lx5z Increased RBC mass UMLS:C1853288 human_phenotype owl:Class HP:0030907 biolink:NamedThing Thunderclap headache Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days. hp0009lx5z The differential diagnosis of thunderclap headache (TCH) includes subarachnoid hemorrhage, ischemic stroke, cerebral venous thrombosis, cervical arterial dissection, acute hypertensive crisis, retroclival hematoma, pituitary apoplexy, and pheochromocytoma. owl:Class HP:0009405 biolink:NamedThing Bullet-shaped phalanges of the 4th finger A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped of bone of ring finger doelkens 2009-01-13T02:37:29Z UMLS:C4024386 human_phenotype owl:Class HP:0010726 biolink:NamedThing Prominent corneal nerve fibers Abnormal prominence of the corneal nerve fibers. hp0009lx5z Visible corneal nerve fibers|Visible corneal nerve fibres|Prominent corneal nerve fibres sdoelken 2010-04-20T10:52:24Z UMLS:C4021233 human_phenotype owl:Class HP:0002144 biolink:NamedThing Tethered cord During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. hp0009lx5z Occult spinal dysraphism UMLS:C0080218|MSH:D009436|SNOMEDCT_US:70534000 human_phenotype owl:Class HP:0031938 biolink:NamedThing Abnormal conus terminalis morphology Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae). hp0009lx5z Abnormal conus medullaris morphology 2018-07-05 13:09:44+00:00 The tapering end of the conus terminalis continues as the filum terminale. peter owl:Class HP:0041157 biolink:NamedThing Fractured larynx A partial or complete breakage of the larynx. hp0009lx5z bone larynx owl:Class HP:0025422 biolink:NamedThing Pleural cyst A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance. hp0009lx5z 2017-04-23 12:33:15+00:00 Pleuropericardial cysts usually are congenital anomalies. after the third week of gestation, the mesoderm separates itself to form pleural, pericardial and peritoneal spaces. Incomplete partitioning can result in a pleuropericardial cyst. HPO:probinson owl:Class HP:0040187 biolink:NamedThing Neonatal sepsis Systemic inflammatory response to infection in newborn babies. hp0009lx5z SNOMEDCT_US:206376005|MSH:D000071074|UMLS:C0456103 owl:Class HP:0100806 biolink:NamedThing Sepsis Systemic inflammatory response to infection. hp0009lx5z Infection in blood stream doelkens 2011-06-09T01:05:51Z UMLS:C0036690|MSH:D018805 human_phenotype owl:Class HP:0012419 biolink:NamedThing Hyperoxemia An abnormally high level of blood oxygen. hp0009lx5z Note that hyperoxemia is defined as a condition where arterial oxygen tension is above normal (80-100mmHg). Hyperoxia is defined as increased oxygen tension at the tissue level. Hyperoxia is not measured directly by a standard laboratory value. peter 2013-11-10T05:09:04Z UMLS:C4022910 human_phenotype owl:Class HP:0025396 biolink:NamedThing Decreased attenuation pattern on pulmonary HRCT Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography. hp0009lx5z Black lung pattern on pulmonary HRCT 2017-04-22 13:08:16+00:00 HPO:probinson owl:Class HP:0002833 biolink:NamedThing Cystic angiomatosis of bone Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping. hp0009lx5z Lytic cystic lesions in appendicular bones The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs. UMLS:C4021749 human_phenotype owl:Class HP:0008985 biolink:NamedThing Increased intramuscular fat An abnormal increase in the amount of intramuscular fat tissue. hp0009lx5z Increased IM fat|Increased intramuscular fat UMLS:C1835389 human_phenotype owl:Class HP:0100658 biolink:NamedThing Cellulitis A bacterial infection and inflammation of the skin und subcutaneous tissues. hp0009lx5z Bacterial infection of skin|Skin infection|Skin infections In contrast to impetigo, which is a very superficial skin infection, cellulitis involves both the dermis and the underlying subcutaneous tissue. doelkens 2010-12-30T10:11:51Z HP:0003553 MSH:D002481|MSH:D017192|UMLS:C0162627|SNOMEDCT_US:128045006|UMLS:C0007642|SNOMEDCT_US:385627004|SNOMEDCT_US:128936008 human_phenotype owl:Class HP:0011695 biolink:NamedThing Cerebellar hemorrhage Hemorrhage into the parenchyma of the cerebellum. hp0009lx5z Cerebellar haemorrhage peter 2012-04-10T10:46:25Z UMLS:C0149854|SNOMEDCT_US:75038005 human_phenotype owl:Class HP:0009046 biolink:NamedThing Difficulty running Reduced ability to run. hp0009lx5z Difficulty running UMLS:C0560346|SNOMEDCT_US:282479002 human_phenotype owl:Class HP:0011930 biolink:NamedThing Hyperextensible skin of chest hp0009lx5z Stretchable chest skin|Hyperelastic chest skin peter 2012-06-10T11:37:14Z UMLS:C4021836 human_phenotype owl:Class HP:0040049 biolink:NamedThing Macular edema Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease. hp0009lx5z Macular oedema HPO:skoehler SNOMEDCT_US:37231002|UMLS:C0271051|MSH:D008269 owl:Class HP:0008929 biolink:NamedThing Asymmetric short stature hp0009lx5z UMLS:C4024614 human_phenotype owl:Class HP:0010297 biolink:NamedThing Bifid tongue Tongue with a median apical indentation or fork. hp0009lx5z Bifurcated tongue|Forked tongue|Cleft tongue|Snake tongue|Bilobed tongue|Split tongue Bifid tongue can be associated with ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue. peter 2009-07-12T11:47:28Z SNOMEDCT_US:84557007|UMLS:C4255098|UMLS:C0266111 owl:Class HP:0031817 biolink:NamedThing Decreased circulating parathyroid hormone level An abnormally decreased concentration of parathyroid hormone. hp0009lx5z Decreased serum parathyroid hormone level|Decreased circulating PTH level|Decreased serum parathyroid hormone|Decreased serum PTH 2018-05-01 01:55:46+00:00 peter owl:Class HP:0010648 biolink:NamedThing Dermal translucency An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. hp0009lx5z Translucent skin doelkens 2010-02-23T11:50:37Z UMLS:C1836646 human_phenotype owl:Class HP:0005486 biolink:NamedThing Small fontanelle A fontanelle that is small for age. hp0009lx5z Microfontanelle|Small cranial sutures|Little cranial sutures|Little fontanelle|Small bregma sutures|Small soft spot UMLS:C4072854|UMLS:C4072855|UMLS:C0456133|SNOMEDCT_US:276710001 human_phenotype owl:Class HP:0500023 biolink:NamedThing Shoulder muscle aplasia Absence of shoulder muscles. hp0009lx5z Absent shoulder muscle 2017-05-25 16:40:00+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0001464 biolink:NamedThing Aplasia/Hypoplasia involving the shoulder musculature Absence or underdevelopment of the muscles of the shoulder. hp0009lx5z Absent/small shoulder muscles|Absent/underdeveloped shoulder muscles peter 2008-04-07T10:49:00Z UMLS:C4025772 human_phenotype owl:Class HP:0030154 biolink:NamedThing Gallbladder perforation Rupture of the wall of the gallbladder. hp0009lx5z Gall bladder perforation Clinical presentation of a ruptured gallbladder can range from an acute generalised peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately. UMLS:C0156215|SNOMEDCT_US:25345001 owl:Class HP:0025151 biolink:NamedThing Ganglioneuromatosis Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers. hp0009lx5z 2016-12-03 14:36:23+00:00 HPO:probinson owl:Class HP:4000028 biolink:NamedThing Anti-LABD97 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion. hp0009lx5z 2021-05-02 14:52:23+00:00 robinp owl:Class HP:0002580 biolink:NamedThing Volvulus Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. hp0009lx5z Volvulus can lead to intestinal obstruction and ischemia. UMLS:C0042961|MSH:D045822|SNOMEDCT_US:9707006|SNOMEDCT_US:90738007 human_phenotype owl:Class HP:0012042 biolink:NamedThing Aspirin-induced asthma A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction. hp0009lx5z Aspirin-induced asthma peter 2012-08-01T11:22:04Z MSH:D055963|SNOMEDCT_US:407674008|UMLS:C1319853 owl:Class HP:0006251 biolink:NamedThing Limited wrist extension hp0009lx5z UMLS:C1862481 human_phenotype owl:Class HP:0012184 biolink:NamedThing Increased HDL cholesterol concentration An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. hp0009lx5z Increased circulating high-density lipoprotein levels|Hyperalphalipoproteinemia|High blood HDL level The major apolipoproteins of HDL are apolipoprotein (apo) A-I and apo A-II, also known as the alpha lipoproteins. Thus, hyperalphalipoproteinemia refers to an elevated concentration of apo A-I and apo A-II. peter 2013-02-24T09:14:45Z SNOMEDCT_US:238080004|MSH:C564591|UMLS:C0342883 human_phenotype owl:Class HP:0031087 biolink:NamedThing Absent pubertal growth spurt The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur. hp0009lx5z Absent adolescent growth spurt 2017-05-29 00:29:04+00:00 peter owl:Class HP:0003536 biolink:NamedThing Decreased fumarate hydratase activity An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. hp0009lx5z Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate. UMLS:C1853903 human_phenotype owl:Class HP:5000006 biolink:NamedThing Anti-CV2/CRMP5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum. hp0009lx5z Anti-CV2 antibody|Anti-CV2/collapsin response mediator protein (CRMP)5 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0005531 biolink:NamedThing Biphenotypic acute leukemia A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias. hp0009lx5z Myeloid/lymphoid leukaemia|Biphenotypic acute leukaemia|Acute biphenotypic leukaemia|Myeloid/lymphoid leukemia SNOMEDCT_US:278453007|MSH:D015456|UMLS:C0023464|SNOMEDCT_US:128818009 human_phenotype owl:Class HP:0030427 biolink:NamedThing Ossifying fibroma of the jaw A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed. hp0009lx5z The mandible is most commonly affected. UMLS:C4072940 owl:Class HP:0033629 biolink:NamedThing IgG4 autoimmune antibody positivity The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues. hp0009lx5z 2021-01-31 18:32:57+00:00 peter owl:Class HP:0008640 biolink:NamedThing Congenital macroorchidism hp0009lx5z UMLS:C4024650 human_phenotype owl:Class HP:0012798 biolink:NamedThing Pulmonary lymphangiomyomatosis Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. hp0009lx5z Pulmonary myomatosis|Lymphangioleiomyomatosis Pulmonary lymphangiomyomatosis is a manifestation of lymphangioleiomyomatosis, which may also affect extrapulmonary locations. It can be seen in tuberous sclerosis. peter 2014-05-24T05:00:46Z SNOMEDCT_US:73017001|UMLS:C0238399|MSH:D018192|UMLS:C0751674 human_phenotype owl:Class HP:0012797 biolink:NamedThing Lymphatic vessel neoplasm A benign or malignant neoplasm arising from the lymphatic vessels. hp0009lx5z Lymphatic vessel tumor|Lymphatic vessel tumour peter 2014-05-24T05:00:34Z SNOMEDCT_US:115236002|MSH:D018190|UMLS:C0206619|NCIT:C3262 human_phenotype owl:Class HP:3000035 biolink:NamedThing Abnormality of cervical plexus Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck. hp0009lx5z vasilevs 2015-08-07T00:35:58Z UMLS:C4073243 human_phenotype owl:Class HP:0004796 biolink:NamedThing Gastrointestinal obstruction hp0009lx5z Obstruction in digestive tract|Gastrointestinal obstruction|GI obstruction SNOMEDCT_US:126765001|UMLS:C0236124 human_phenotype owl:Class HP:0430025 biolink:NamedThing Bilateral facial palsy Two-sided or bilateral weakness of the muscles of facial expression and eye closure. hp0009lx5z Weakness of both sides of the face|Bilateral facial muscle paralysis|Bilateral facial muscle weakness|Bilateral facial paralysis|Paralysis of both sides of the face UMLS:C4073207 owl:Class HP:0031870 biolink:NamedThing Phosphohydroxylysinuria An elevated concentration of phosphohydroxylysine in the urine. hp0009lx5z 2018-05-06 13:30:12+00:00 There are no clinical manifestations associated with phosphohydroxylysinuria other than the urinary metabolites. peter owl:Class HP:0200064 biolink:NamedThing Asymmetry of iris pigmentation Asymmetry between the two irides or asymmetry between different parts of one iris. hp0009lx5z sebastiankohler 2013-05-31T01:27:41Z UMLS:C0423318|MSH:C538115|SNOMEDCT_US:247033008 human_phenotype owl:Class HP:0033374 biolink:NamedThing Decreased KCO Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). hp0009lx5z 2020-12-23 12:41:42+00:00 peter owl:Class HP:0040333 biolink:NamedThing Confluent hypointensity of cerebral white matter on MRI hp0009lx5z ORCID:0000-0002-5316-1399 owl:Class HP:0003996 biolink:NamedThing Flattened radial head hp0009lx5z UMLS:C4025459 human_phenotype owl:Class HP:0000661 biolink:NamedThing Palpebral fissure narrowing on adduction hp0009lx5z UMLS:C1846465 human_phenotype owl:Class HP:0000581 biolink:NamedThing Blepharophimosis A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. hp0009lx5z Decreased width of palpebral fissure|Narrow opening between the eyelids When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus. HP:0000513|HP:0000507 MSH:D016569|UMLS:C0005744 human_phenotype owl:Class HP:0011933 biolink:NamedThing Elongated superior cerebellar peduncle Increased length of the superior cerebellar peduncle. hp0009lx5z Long cerebellar peduncle|Long cerebellar peduncles|Elongated superior cerebellar peduncles peter 2012-06-10T01:31:13Z UMLS:C4021109|UMLS:C3810214 human_phenotype owl:Class HP:0500070 biolink:NamedThing Conjunctival dermolipoma A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. hp0009lx5z 2018-02-26 17:48:12+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0033046 biolink:NamedThing Michaelis-Gutmann bodies Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria. hp0009lx5z Malakoplakia Malakoplakia is a rare chronic inflammation that is characterized microscopically by the accumulation of tissue macrophages containing unique intracytoplasmic calcified inclusion bodies, known as Michaelis-Gutmann bodies. peter owl:Class HP:0430029 biolink:NamedThing Hyperplasia of the premaxilla An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures. hp0009lx5z Increased size of the primary palate bone|Increased size of premaxilla|Primary palate bone excess|Hyperplasia of the primary palate bone|Premaxillary excess|Hyperplasia of the intermaxillary bone|Large primary palate bone|Large premaxilla UMLS:C4073210 owl:Class HP:0030520 biolink:NamedThing Binasal hemianopia hp0009lx5z SNOMEDCT_US:87278000|MSH:D006423|UMLS:C0271208 owl:Class HP:0007759 biolink:NamedThing Opacification of the corneal stroma Reduced transparency of the stroma of cornea. hp0009lx5z Cloudy cornea|Corneal stromal opacity|Cloudy corneas HP:0007896|HP:0000515|HP:0007662|HP:0007966 SNOMEDCT_US:246957002|UMLS:C0423250|UMLS:C1856661 human_phenotype owl:Class HP:0030744 biolink:NamedThing Hyaloid vascular remnant and retrolental mass A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. hp0009lx5z UMLS:C4280790 owl:Class HP:0032059 biolink:NamedThing Mild malformation of cortical development A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter. hp0009lx5z 2018-09-16 11:35:14+00:00 peter owl:Class HP:0031403 biolink:NamedThing Impaired pathogen-specific CD8 cytoxicity Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors. hp0009lx5z Pathogen-specific CD8 cytoxicity defect 2017-09-03 15:35:22+00:00 peter owl:Class HP:0006938 biolink:NamedThing Impaired vibration sensation at ankles A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. hp0009lx5z Impaired vibration sensation at ankles|Decreased vibration sense in feet|Decreased vibration sense at ankles HP:0007144 UMLS:C1854372 human_phenotype owl:Class HP:0002166 biolink:NamedThing Impaired vibration sensation in the lower limbs A decrease in the ability to perceive vibration in the legs. hp0009lx5z Distal sensory loss, especially vibratory sense|Impaired vibration sensation in the lower limbs|Decreased lower limb vibratory sense|Distal vibratory impairment of the lower limbs|Diminished vibratory sensation in the legs|Decreased vibratory sense in the lower limbs|Decreased vibratory sense in the lower extremities|Decreased vibratory sense in lower limbs UMLS:C1849134 human_phenotype owl:Class HP:0410222 biolink:NamedThing Increased anti-seafood IgE antibody level Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone. hp0009lx5z Increased level of anti-seafood IgE antibody 2018-10-03 16:51:45+00:00 owl:Class HP:0030596 biolink:NamedThing Abnormal Humphrey SITA 30-2 perimetry test hp0009lx5z UMLS:C4073068 owl:Class HP:0030003 biolink:NamedThing Paralytic lagophthalmos A type of lagophthalmos that occurs in association with facial nerve palsy. hp0009lx5z Patients with facial nerve palsy have a characteristic facial asymmetry and drooping of the angle of mouth. The temporal and zygomatic branches of facial nerve supply the forehead and eyelid muscles. Their involvement in a disease leads to paralysis of orbicularis oculi muscle resulting in lagophthalmos and ectropion. SNOMEDCT_US:59890007|UMLS:C0155197 owl:Class HP:0001530 biolink:NamedThing Mild postnatal growth retardation A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. hp0009lx5z Mild growth deficiency|Postnatal onset of mild growth retardation HP:0008860|HP:0008917 UMLS:C3550204|UMLS:C1835580 human_phenotype owl:Class HP:0003183 biolink:NamedThing Wide pubic symphysis Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. hp0009lx5z Wide symphysis of pubis UMLS:C1857190 human_phenotype owl:Class HP:0033173 biolink:NamedThing Milky appearance of bronchoalveolar lavage fluid Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. hp0009lx5z 2020-09-24 10:42:34+00:00 This feature is characteristically observed in pulmonary alveolar proteinosis. peter owl:Class HP:0030593 biolink:NamedThing Abnormal manual kinetic perimetry test hp0009lx5z UMLS:C4073065 owl:Class HP:0032717 biolink:NamedThing Focal impaired awareness motor seizure with dystonia A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure. hp0009lx5z Focal motor impaired awareness seizure with dystonia peter owl:Class HP:0010859 biolink:NamedThing Frank breech presentation A kind of breech presentation in which the hips are flexed and the knees are extended. hp0009lx5z peter 2010-08-03T12:33:15Z SNOMEDCT_US:18559007|UMLS:C0233286|MSH:D001946 human_phenotype owl:Class HP:0011137 biolink:NamedThing Non-pruritic urticaria Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus. hp0009lx5z Non-itchy hives Although the English-language names for uritcaria and non-pruritic urticaria are very similar these are treated as distinct lesions. Non-pruritic urticaria should not be considered to be a subclass of urticaria, because the latter is characterized by pruritus. peter 2011-06-19T02:17:55Z UMLS:C4023519 human_phenotype owl:Class HP:0004236 biolink:NamedThing Irregular carpal bones Carpal bones with irregular or fragmented margins. hp0009lx5z Irregular wrist bones UMLS:C4025401 human_phenotype owl:Class HP:0005640 biolink:NamedThing Abnormal vertebral segmentation and fusion hp0009lx5z UMLS:C4025167 human_phenotype owl:Class HP:0006334 biolink:NamedThing Hypoplasia of the primary teeth Developmental hypoplasia of the primary teeth. hp0009lx5z Decreased size of deciduous teeth|Decreased size of milk teeth|Decreased size of primary teeth|Small primary teeth|Underdevelopment of milk teeth|Small baby teeth|Underdevelopment of baby teeth|Small milk teeth|Hypoplastic deciduous teeth|Underdevelopment of primary teeth|Decreased size of baby teeth HP:0006318 UMLS:C1855694 human_phenotype owl:Class HP:0030200 biolink:NamedThing Fatiguable weakness of proximal limb muscles A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. hp0009lx5z UMLS:C4022583 owl:Class HP:0009045 biolink:NamedThing Exercise-induced rhabdomyolysis Rhabdomyolysis induced by exercise. hp0009lx5z Rhabdomyolysis with exercise UMLS:C4021526 human_phenotype owl:Class HP:0100234 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 5th toe hp0009lx5z Triangular end part of the innermost bone of the pinky toe|Triangular end part of the innermost bone of the pinkie toe|Triangular end part of the innermost bone of the little toe doelkens 2010-06-24T05:04:53Z UMLS:C4022187 human_phenotype owl:Class HP:0030114 biolink:NamedThing Absent muscle fiber dysferlin Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. hp0009lx5z Absent muscle fibre dysferlin UMLS:C4022631 owl:Class HP:0410216 biolink:NamedThing Abnormal blood 5-methyltetrahydrofolate level An abnormal concentration of 5-methyltetrahydrofolate in the blood. hp0009lx5z Abnormal serum methylfolate Level 2018-09-12 00:50:35+00:00 owl:Class HP:0011904 biolink:NamedThing Persistence of hemoglobin F Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. hp0009lx5z Persistence of haemoglobin F|Persistence of HbF|Increased haemoglobin F|Increased hemoglobin F peter 2012-06-03T05:03:00Z UMLS:C0239941 human_phenotype owl:Class HP:0030029 biolink:NamedThing Splayed fingers Divergence of digits along the A/P axis (in the plane of the palm). hp0009lx5z Spreading of the fingers|Splayed fingers This may be associated with Macrodactyly, but this should be assessed and coded separately. The affected digits should be specified. UMLS:C4021057 owl:Class HP:0003942 biolink:NamedThing Synovial chondromatosis of the elbow hp0009lx5z UMLS:C4025492 human_phenotype owl:Class HP:0004430 biolink:NamedThing Severe combined immunodeficiency A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. hp0009lx5z Immunodeficiency, severe combined peter 2008-03-18T09:46:00Z UMLS:C0085110|SNOMEDCT_US:31323000|MSH:D016511 human_phenotype owl:Class HP:0005387 biolink:NamedThing Combined immunodeficiency A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. hp0009lx5z UMLS:C0494261 human_phenotype owl:Class HP:0012489 biolink:NamedThing Suprasellar arachnoid cyst An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards. hp0009lx5z As the cyst increases in size it fills and occludes the third ventricle, and distorts and blocks the aqueduct, which finally results in hydrocephalus. peter 2013-11-29T09:11:20Z UMLS:C4022882 owl:Class HP:0010827 biolink:NamedThing Abnormality of the seventh cranial nerve Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. hp0009lx5z Abnormality of the facial nerve peter 2010-07-10T04:04:55Z UMLS:C4021223 human_phenotype owl:Class HP:0031879 biolink:NamedThing Abnormal eyelid physiology Any functional abnormality of the eyelid. hp0009lx5z 2018-05-06 15:39:56+00:00 peter owl:Class HP:0032040 biolink:NamedThing Abnormal ocular adnexa physiology A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. hp0009lx5z 2018-09-03 00:18:45+00:00 peter owl:Class HP:0410272 biolink:NamedThing Vulvar hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva. hp0009lx5z 2018-10-30 02:17:19+00:00 owl:Class HP:0032447 biolink:NamedThing Pulmonary bleb A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura. hp0009lx5z 2019-03-03 17:47:36+00:00 peter owl:Class HP:0030034 biolink:NamedThing Glomerular basement membrane lamellation Presence of abnormal additional layers of the basement membrane of the glomerulus. hp0009lx5z Lamellation of the glomerular basement membrane|Lamellated/basket-woven thickened glomerular basement membranes UMLS:C3278307 owl:Class HP:0033141 biolink:NamedThing Severe SARS-CoV-2 infection Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation. hp0009lx5z 2020-09-15 10:19:28+00:00 peter owl:Class HP:0012486 biolink:NamedThing Myelitis Inflammation of the spinal cord. hp0009lx5z Inflammation of spinal cord peter 2013-11-29T08:10:12Z MSH:D009187|SNOMEDCT_US:41370002|UMLS:C0026975 human_phenotype owl:Class HP:0005891 biolink:NamedThing Progressive forearm bowing Progressive bending or abnormal curvature of the forearm skeleton. hp0009lx5z Progressive forearm curvature UMLS:C3152020 human_phenotype owl:Class HP:0001688 biolink:NamedThing Sinus bradycardia Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. hp0009lx5z HP:0005137 SNOMEDCT_US:49710005|UMLS:C0085610|Fyler:7013 human_phenotype owl:Class HP:0012900 biolink:NamedThing Myotonia of the face Slowed relaxation of muscles in the face. hp0009lx5z peter 2014-06-23T11:14:55Z UMLS:C4022686 human_phenotype owl:Class HP:0032250 biolink:NamedThing Acinetobacter infection An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay. hp0009lx5z 2019-01-27 16:38:23+00:00 peter owl:Class HP:0032591 biolink:NamedThing Renal interstitial hemosiderin Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. hp0009lx5z Hemosiderin is an iron-containing, golden-brown, granular pigment derived from ferritin, the initial iron-storage protein. As iron accumulates within the cell, aggregates of ferritin molecules form hemosiderin. Upon hemolysis of red blood cells, hemoglobin alpha-beta dimers are released that, if unbound to haptoglobin, are filtered by the glomerulus and appear in the urine as hemoglobinuria. The hemoglobin dimers are taken up by renal proximal tubular cells and degraded and the free chelatable iron is stored as hemosiderin in the lysosomes. Hemosiderin deposition in kidney tubular cells has been reported in different types of hemolytic anemia including autoimmune hemolytic anemia and paroxysmal nocturnal hemoglobinuria and sickle cell anemia and after cardiac valve replacement with residual valvular regurgitation or perivalvular leak. peter owl:Class HP:0030145 biolink:NamedThing Lack of bowel sounds Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope. hp0009lx5z Lack of bowel sounds This feature reflects lack of intestinal activity. UMLS:C4022606 owl:Class HP:0030142 biolink:NamedThing Abnormal bowel sounds An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis. hp0009lx5z Abnormal bowel sounds SNOMEDCT_US:60612008|UMLS:C0159060 owl:Class HP:0004315 biolink:NamedThing Decreased circulating IgG level An abnormally decreased level of immunoglobulin G (IgG) in blood. hp0009lx5z Decreased immunoglobulin G|Reduced IgG levels|IgG deficiency|Decreased gamma-globin expression|Decreased IgG level in blood|Decreased serum IgG|Decreased IgG level peter 2008-02-20T03:43:00Z HP:0005394|HP:0003289|HP:0008325|HP:0008340|HP:0003294 MSH:D017099|UMLS:C0162539|SNOMEDCT_US:123785006|SNOMEDCT_US:190981001 human_phenotype owl:Class HP:0004635 biolink:NamedThing Cervical C5/C6 vertebrae fusion Fusion of the C5 and C6 cervical vertebrae. hp0009lx5z UMLS:C4025301 human_phenotype owl:Class HP:0001809 biolink:NamedThing Split nail A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature. hp0009lx5z Longitudinal splitting of nail This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments. UMLS:C0263530|SNOMEDCT_US:85136002 human_phenotype owl:Class HP:0002296 biolink:NamedThing Progressive hypotrichosis Progressively reduced or lacking hair growth. hp0009lx5z UMLS:C1857048 human_phenotype owl:Class HP:0003338 biolink:NamedThing Focal necrosis of right ventricular muscle cells hp0009lx5z UMLS:C4025627 human_phenotype owl:Class HP:0010982 biolink:NamedThing Polygenic inheritance A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci. hp0009lx5z peter 2011-02-08T10:12:39Z MSH:D020412|UMLS:C1148552 human_phenotype owl:Class HP:0007565 biolink:NamedThing Multiple cafe-au-lait spots The presence of six or more cafe-au-lait spots. hp0009lx5z Multiple flat light-brown marks on skin|Multiple birthmarks HP:0007416 MSH:C537421|UMLS:C1861975 human_phenotype owl:Class HP:0000957 biolink:NamedThing Cafe-au-lait spot Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. hp0009lx5z Cafe au lait spots|Cafe-au-lait macule|Flat light-brown mark on skin|Cafe-au-lait spots|Cafe-au-lait macules|Birthmark The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. HP:0005601|HP:0007454 MSH:D019080|SNOMEDCT_US:201281002|SNOMEDCT_US:51089004|UMLS:C0265974|UMLS:C0221263 human_phenotype owl:Class HP:0033356 biolink:NamedThing Elevated circulating o-phosphoserine concentration An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine. hp0009lx5z 2020-12-01 12:16:14+00:00 peter owl:Class HP:0011966 biolink:NamedThing Elevated plasma citrulline An increased concentration of citrulline in the blood. hp0009lx5z peter 2012-07-18T08:23:22Z UMLS:C4023102 human_phenotype owl:Class HP:0010754 biolink:NamedThing Abnormality of the temporomandibular joint An anomaly of the temporomandibular joint. hp0009lx5z Anomaly of the temporomandibular joint|Abnormality of the jaw joint|Deformity of the temporomandibular joint|Deformity of the jaw joint|Malformation of jaw joint|Malformation of the temporomandibular joint|Derangement of the temporomandibular joint sdoelken 2010-04-23T10:36:28Z SNOMEDCT_US:75630004|UMLS:C0424721|SNOMEDCT_US:248401009|UMLS:C1865318|UMLS:C0266941|UMLS:C4280366 human_phenotype owl:Class HP:0003966 biolink:NamedThing Sclerotic foci in forearm bones hp0009lx5z UMLS:C4025473 human_phenotype owl:Class HP:0012043 biolink:NamedThing Pendular nystagmus Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. hp0009lx5z Nystagmus, continuous pendular|Nystagmus, pendular peter 2012-08-01T12:04:00Z UMLS:C0271388|SNOMEDCT_US:35743001|MSH:D009759|UMLS:C4020734 human_phenotype owl:Class HP:0004050 biolink:NamedThing Absent hand The total absence of the hand, with no bony elements distal to the radius or ulna. hp0009lx5z Acheiria|Absent hand SNOMEDCT_US:371199008|UMLS:C0265594 human_phenotype owl:Class HP:0012897 biolink:NamedThing Abnormal upper-limb motor evoked potentials An anomaly identified by motor evoked potentials (MEPs) in the arm. hp0009lx5z Abnormal motor evoked potentials in the upper limb peter 2014-06-23T11:08:22Z UMLS:C4021059 human_phenotype owl:Class HP:0008127 biolink:NamedThing Bipartite calcaneus A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. hp0009lx5z Delayed fusion of bipartite calcanei|Delayed coalescence of calcaneal ossification centres|Delayed coalescence of calcaneal ossification centers|Double calcaneal ossification center|Extra calcaneal ossification center|Double calcaneal ossification centre|Delayed coalescence of bipartite calcanei|Extra calcaneal ossification centre HP:0008146|HP:0008130|HP:0008104 UMLS:C1835574 human_phenotype owl:Class HP:0031960 biolink:NamedThing Arm dystonia A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. hp0009lx5z 2018-07-07 14:24:40+00:00 peter owl:Class HP:0002451 biolink:NamedThing Limb dystonia A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. hp0009lx5z MSH:D004421|UMLS:C0751093 human_phenotype owl:Class HP:0100163 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 3rd toe hp0009lx5z Increased bone density of end part of the innermost bone of the 3rd toe doelkens 2010-06-24T10:24:45Z UMLS:C4022258 human_phenotype owl:Class HP:0011417 biolink:NamedThing Long umbilical cord Increased length of the umbilical cord. hp0009lx5z Long umbilical cord peter 2012-03-15T10:12:55Z UMLS:C0405028|SNOMEDCT_US:237261008 human_phenotype owl:Class HP:0001593 biolink:NamedThing Maxillary lateral incisor microdontia Decreased size of the maxillary permanent incisor. hp0009lx5z Hypotrophic upper lateral incisor|Decreased width of upper lateral incisor|Hypotrophic maxillary lateral incisor|Decreased size of maxillary lateral incisor|Small maxillary lateral incisor|Decreased size of upper lateral incisor|Small upper lateral incisor UMLS:C4280588|UMLS:C1845111|UMLS:C4280589 owl:Class HP:0006094 biolink:NamedThing Finger joint hypermobility hp0009lx5z Increased mobility in finger joint SNOMEDCT_US:298193009|UMLS:C0574974 human_phenotype owl:Class HP:0100473 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 3rd toe hp0009lx5z Fused innermost bone of 3rd toe UMLS:C4022054 human_phenotype owl:Class HP:0002206 biolink:NamedThing Pulmonary fibrosis Replacement of normal lung tissues by fibroblasts and collagen. hp0009lx5z Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer. HP:0006523 MSH:D011658|UMLS:C0034069|SNOMEDCT_US:51615001 owl:Class HP:0025372 biolink:NamedThing Loud snoring Particularly loud snoring, snoring at high volume. hp0009lx5z Snores loudly|Heavy snoring|Has loud snoring|Have loud snoring 2017-03-15 11:53:28+00:00 HPO:probinson owl:Class HP:0025267 biolink:NamedThing Snoring Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping. hp0009lx5z Snores|Snoring symptoms|Snore 2016-12-18 13:24:58+00:00 HPO:probinson owl:Class HP:0031888 biolink:NamedThing Abnormal HDL cholesterol concentration Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood. hp0009lx5z 2018-05-13 14:42:38+00:00 HDL returns excess cholesterol from cells to the liver via various pathways. peter owl:Class HP:0410307 biolink:NamedThing Positive stool methadone test Detection of methadone and its metabolites in the stool. hp0009lx5z 2019-01-28 23:27:34+00:00 owl:Class HP:0200119 biolink:NamedThing Acute hepatitis Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders. hp0009lx5z Acute liver inflammation sebastiankohler 2013-06-11T11:15:57Z UMLS:C0267797|SNOMEDCT_US:37871000 human_phenotype owl:Class HP:0008354 biolink:NamedThing Factor X activation deficiency Reduced ability to transform factor X into its activated form factor Xa. hp0009lx5z UMLS:C4024693 human_phenotype owl:Class HP:0008321 biolink:NamedThing Reduced factor X activity Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). hp0009lx5z Decreased factor x activity|Factor X deficiency UMLS:C4024702|MSH:D005171|SNOMEDCT_US:76642003|UMLS:C0015519 human_phenotype owl:Class HP:4000061 biolink:NamedThing Pancreatic alpha-cell hyperplasia A diffuse and specific increase in the number of alpha-cells. hp0009lx5z 2021-06-23 16:27:00+00:00 Alpha cells are glucagon-secreting endocrine cells in the pancreatic islets of the pancreas. robinp owl:Class HP:0100139 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 3rd toe hp0009lx5z Fragmentation of the end part of the outermost bone of the 3rd toe doelkens 2010-06-24T10:23:44Z UMLS:C4022282 human_phenotype owl:Class HP:0005202 biolink:NamedThing Helicobacter pylori infection A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach. hp0009lx5z The bacterial pathogen Helicobacter pylori has co-evolved with humans and colonizes approximately half of the human population, but only causes overt gastric disease in a subset of infected hosts. UMLS:C0850666 human_phenotype owl:Class HP:0410283 biolink:NamedThing Positive blood acetaminophen test Detection of acetaminophen in the blood. hp0009lx5z Positive blood Tylenol test|Positive blood paracetamol test 2018-12-04 01:44:23+00:00 owl:Class HP:0003683 biolink:NamedThing Large beaked nose hp0009lx5z Large beaked nose UMLS:C4025579 human_phenotype owl:Class HP:0030589 biolink:NamedThing Abnormal confrontational visual field test hp0009lx5z UMLS:C4073061 owl:Class HP:0033505 biolink:NamedThing Livedo reticularis Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. hp0009lx5z 2021-01-10 14:43:05+00:00 The distinction to cutis marmorata is that the mottling does not resolve when the skin is warmed, and the discoloration is bluish purple rather than red. The Livedo reticularis lesion is more intense and is persistent. peter owl:Class HP:0031779 biolink:NamedThing Excyclophoria A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other. hp0009lx5z 2018-01-27 11:47:57+00:00 peter owl:Class HP:0009587 biolink:NamedThing Triangular shaped proximal phalanx of the 2nd finger Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped innermost bone of index finger|Triangular proximal index finger phalanx doelkens 2009-01-28T05:26:39Z HP:0004125 UMLS:C4021432 human_phenotype owl:Class HP:0031534 biolink:NamedThing Passive dorsiflexion of the 5th finger more than 90 degrees An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal. hp0009lx5z 2017-09-24 00:56:23+00:00 This feature is tested on the right and left side and if positive, each feature contributes one point to the Beighton score. peter owl:Class HP:0030230 biolink:NamedThing Central core regions in muscle fibers The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. hp0009lx5z Central core regions in muscle fibres UMLS:C4022568 owl:Class HP:0025214 biolink:NamedThing Triggered by heat Applies to a sign or symptom that is provoked or brought about by exposure to heat. hp0009lx5z Triggered by heat|Heat triggered symptoms 2016-12-10 13:59:21+00:00 HPO:probinson owl:Class HP:0012891 biolink:NamedThing High posterior hairline Hair on the neck extends less inferiorly than usual. hp0009lx5z High hairline at back of head peter 2014-06-23T10:57:10Z UMLS:C4022692 owl:Class HP:0010106 biolink:NamedThing Aplasia of the proximal phalanx of the hallux hp0009lx5z Absent innermost bone of big toe doelkens 2009-05-29T12:43:40Z UMLS:C4024047 human_phenotype owl:Class HP:0033024 biolink:NamedThing Transient decreased circulating IgA A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation. hp0009lx5z peter owl:Class HP:0200117 biolink:NamedThing Recurrent upper and lower respiratory tract infections Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections. hp0009lx5z sebastiankohler 2013-06-07T01:34:02Z UMLS:C1842777 human_phenotype owl:Class HP:0002783 biolink:NamedThing Recurrent lower respiratory tract infections An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. hp0009lx5z Lower respiratory tract infections|Chronic lung infections|Recurrent chest infections HP:0005955|HP:0004884 SNOMEDCT_US:50417007|UMLS:C0149725|UMLS:C0585953|SNOMEDCT_US:448739000|UMLS:C3163798 human_phenotype owl:Class HP:0032928 biolink:NamedThing Elevated CSF neurofilamant light chain Definition: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. hp0009lx5z peter owl:Class HP:0025009 biolink:NamedThing Forward slanting upper incisors The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards. hp0009lx5z Forward directed upper incisors|Protruding upper incisors|Proclination of the upper incisors 2016-08-07 12:52:55+00:00 HPO:probinson owl:Class HP:0033779 biolink:NamedThing Barrel-shaped tooth A tooth crown with convex mesial and distal surfaces. hp0009lx5z 2021-05-07 10:08:15+00:00 A barrel shape of a tooth occurs in incisors and canines only. The incisal edge is not pointed. Barrel-shaped teeth are frequently observed in association with hypodontia and oligodontia. peter owl:Class HP:0033547 biolink:NamedThing Mesangial immunotactoid deposits Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. hp0009lx5z 2021-01-21 13:40:05+00:00 peter owl:Class HP:0025340 biolink:NamedThing Deep episcleral hyperemia Prominence of blood vessels of the deep episcleral tissues. hp0009lx5z Deep episcleral hyperaemia 2017-02-12 13:00:24+00:00 The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab. HPO:probinson owl:Class HP:0010308 biolink:NamedThing Asternia The congenital absence of the sternum. hp0009lx5z Breast bone aplasia|Aplasia of the sternum peter 2009-07-12T02:21:46Z UMLS:C4023912 owl:Class HP:0045054 biolink:NamedThing Brachial plexus neuropathy hp0009lx5z Related to ticket: https://github.com/obophenotype/human-phenotype-ontology/issues/484 HPO:skoehler UMLS:C0700251|MSH:D020516|SNOMEDCT_US:3548001 owl:Class HP:0045052 biolink:NamedThing Abnormality of the brachial nerve plexus Any abnormality of the brachial nerve plexus. hp0009lx5z HPO:skoehler UMLS:C4073176 owl:Class HP:0005587 biolink:NamedThing Profuse pigmented skin lesions hp0009lx5z UMLS:C1834424 human_phenotype owl:Class HP:0011779 biolink:NamedThing Anaplastic thyroid carcinoma hp0009lx5z peter 2012-04-22T06:02:52Z MSH:D065646|SNOMEDCT_US:255031003|UMLS:C0238461 human_phenotype owl:Class HP:0020167 biolink:NamedThing Hemiretinal vein occlusion A variant of central retinal vein occlusions that involves the superior or inferior half of the retina. hp0009lx5z robinp 2019-07-06 21:12:32+00:00 owl:Class HP:0011733 biolink:NamedThing Abnormality of adrenal physiology A functional abnormality of the adrenal glands. hp0009lx5z peter 2012-04-21T08:05:42Z HP:0002855 UMLS:C4023212 human_phenotype owl:Class HP:0011532 biolink:NamedThing Subretinal exudate A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. hp0009lx5z peter 2012-04-07T09:21:46Z SNOMEDCT_US:247156002|UMLS:C0423431 human_phenotype owl:Class HP:0030731 biolink:NamedThing Carcinoma A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). hp0009lx5z UMLS:C0007097|MSH:D002277|SNOMEDCT_US:68453008|NCIT:C2916 owl:Class HP:0031492 biolink:NamedThing Epithelial neoplasm A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709]. hp0009lx5z 2017-09-18 00:40:36+00:00 Epithelial neoplasm is a benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. peter owl:Class HP:0003168 biolink:NamedThing Dibasicaminoaciduria An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His). hp0009lx5z UMLS:C4025643 owl:Class HP:0008967 biolink:NamedThing Exercise-induced muscle stiffness A type of muscle stiffness that occurs following physical exertion. hp0009lx5z Muscle stiffness with exercise|Muscle stiffness, exercise-induced|Exercise-induced muscle stiffness HP:0003633 UMLS:C1855579 human_phenotype owl:Class HP:0100476 biolink:NamedThing Symphalangism affecting the distal phalanx of the 3rd toe hp0009lx5z Fused outermost bone of 3rd toe UMLS:C4022051 human_phenotype owl:Class HP:0030045 biolink:NamedThing Serpentine fibula Elongated curved (S-shaped) fibulae. hp0009lx5z S-shaped calf bone UMLS:C3805325 owl:Class HP:0410006 biolink:NamedThing Abnormality of ophthalmic artery Abnormality of the first branch of the internal carotid artery. hp0009lx5z Ophthalmic artery anomaly The ophthalmic artery (OA) is the first branch of the internal carotid artery distal to the cavernous sinus. Branches of the OA supply all the structures in the orbit as well as some structures in the nose, face and meninges. UMLS:C4073185 owl:Class HP:0009989 biolink:NamedThing Duplication of the middle phalanx of the 5th finger Partial or complete duplication of the fifth middle phalanx of hand. hp0009lx5z Partial/complete duplication of the middle phalanx of the 5th finger|Duplication of the middle little finger bone|Duplication of the middle pinkie finger bone|Duplication of the middle pinky finger bone doelkens 2009-05-26T02:24:20Z UMLS:C4021352 human_phenotype owl:Class HP:0031441 biolink:NamedThing Abnormal tricuspid valve annulus morphology Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. hp0009lx5z 2017-09-17 13:06:49+00:00 peter owl:Class HP:0002826 biolink:NamedThing Halberd-shaped pelvis An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle). hp0009lx5z Halberd-shaped pelvis bone UMLS:C3277119 human_phenotype owl:Class HP:0008233 biolink:NamedThing Decreased circulating progesterone An reduced concentration of progesterone in the blood. hp0009lx5z Decreased serum progesterone Progesterone is a steroid hormone secreted by the corpus luteum after ovulation during the second half of the menstrual cycle. UMLS:C1858995 human_phenotype owl:Class HP:0025486 biolink:NamedThing Fused labia majora The outer labia are sealed together. hp0009lx5z 2017-05-14 17:00:54+00:00 HPO:probinson owl:Class HP:0009303 biolink:NamedThing Osteolytic defects of the distal phalanx of the 4th finger Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger. hp0009lx5z doelkens 2009-01-08T04:41:33Z UMLS:C4024457 human_phenotype owl:Class HP:0031857 biolink:NamedThing Ineffective esophageal peristalsis Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. hp0009lx5z 2018-05-05 18:42:33+00:00 peter owl:Class HP:0025192 biolink:NamedThing Subtentorial periventricular white matter hyperdensity Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum). hp0009lx5z 2016-12-04 23:09:22+00:00 HPO:probinson owl:Class HP:0011228 biolink:NamedThing Horizontal eyebrow An eyebrow that extends straight across the brow, without curve. hp0009lx5z Straight eyebrow|Horizontal eyebrow|Flat eyebrow|Lack of eyebrow curvature|Straight eyebrows|Lack of eyebrow arch peter 2011-12-14T08:18:29Z UMLS:C3277019 human_phenotype owl:Class HP:0100023 biolink:NamedThing Recurrent hand flapping A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down. hp0009lx5z doelkens 2010-05-28T12:10:09Z UMLS:C4022387 human_phenotype owl:Class HP:0004374 biolink:NamedThing Hemiplegia/hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. hp0009lx5z Paralysis or weakness of one side of body peter 2008-03-18T07:35:00Z UMLS:C0375206 owl:Class HP:0033134 biolink:NamedThing Abdominal adhesions Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane). hp0009lx5z Intra-abdominal adhesion 2020-09-09 13:12:30+00:00 Abdominal adhesions typically form after abdominal surgery but may also occur secondary to inflammatory conditions of the abdomen in the absence of prior abdominal surgery or as a sequela of abdomino-pelvic radiation. Although the majority of patients with intra-abdominal adhesions remain asymptomatic, a clinically significant subset of patients will develop adhesive disease, a symptomatic state ranging from mild and/or vague to highly distressing and even life-threatening symptoms. peter owl:Class HP:0012035 biolink:NamedThing Steatocystoma multiplex Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). hp0009lx5z Steatocystoma multiplex can present with localized, generalized, facial, acral, or suppurative involvement. peter 2012-07-27T01:45:14Z SNOMEDCT_US:109433009|MSH:D062685|UMLS:C0259771 human_phenotype owl:Class HP:0009590 biolink:NamedThing Unilateral vestibular Schwannoma A unilateral vestibular Schwannoma (acoustic neurinoma). hp0009lx5z peter 2009-01-28T10:40:23Z UMLS:C1863653 human_phenotype owl:Class HP:0033201 biolink:NamedThing Biceps hyporeflexia Reduced intensity of the biceps tendon reflex. hp0009lx5z Hyporeflexia of biceps 2020-10-11 14:24:43+00:00 peter owl:Class HP:0032039 biolink:NamedThing Abnormality of the ocular adnexa An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. hp0009lx5z 2018-09-03 00:17:49+00:00 peter owl:Class HP:0012161 biolink:NamedThing External carotid artery dissection A separation (dissection) of the layers of the external carotid artery wall. hp0009lx5z peter 2013-02-16T07:33:34Z UMLS:C4023016 human_phenotype owl:Class HP:0005293 biolink:NamedThing Venous insufficiency hp0009lx5z Poorly functioning veins UMLS:C0042485|MSH:D014689|SNOMEDCT_US:20696009 human_phenotype owl:Class HP:0008169 biolink:NamedThing Reduced factor VII activity Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. hp0009lx5z Factor VII deficiency MSH:D005168|UMLS:C4024722|UMLS:C0015503|SNOMEDCT_US:37193007 human_phenotype owl:Class HP:0031067 biolink:NamedThing Empty ovarian follicle A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization. hp0009lx5z Empty follicle syndrome 2017-05-28 22:37:49+00:00 Empty follicle syndrome (EFS) has been defined as a condition in which no oocytes are retrieved from mature ovarian follicles with apparently normal follicular development and estradiol levels, after COH for an assisted reproductive technology (ART) cycle, despite repeated aspiration and flushing. peter owl:Class HP:0008398 biolink:NamedThing Hypoplastic fifth fingernail A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. hp0009lx5z Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinky finger|Underdeveloped fingernail of pinkie finger|Underdeveloped fifth fingernail HP:0200103 UMLS:C4024682 human_phenotype owl:Class HP:0001804 biolink:NamedThing Hypoplastic fingernail Underdevelopment of a fingernail. hp0009lx5z Underdeveloped fingernail|Small fingernail UMLS:C1856786 human_phenotype owl:Class HP:0000653 biolink:NamedThing Sparse eyelashes Decreased density/number of eyelashes. hp0009lx5z Scant eyelashes|Scanty eyelashes|Hypotrichosis of eyelashes|Sparse eyelashes|Partial absence of eyelashes|Thin eyelashes HP:0004531|HP:0004519|HP:0004555|HP:0007853|HP:0004777|HP:0002284 UMLS:C1843300 human_phenotype owl:Class HP:0000362 biolink:NamedThing Otosclerosis In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss. hp0009lx5z Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing. MSH:D010040|UMLS:C0029899|SNOMEDCT_US:11543004 human_phenotype owl:Class HP:0002221 biolink:NamedThing Absent axillary hair Absence of axillary hair. hp0009lx5z HP:0004549 UMLS:C1859392 human_phenotype owl:Class HP:0033899 biolink:NamedThing Arcuate artery lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. hp0009lx5z Organized thrombi within arcuate arterial lumen 2021-06-23 22:26:16+00:00 peter owl:Class HP:0033896 biolink:NamedThing Abnormal arcuate artery lumen morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. hp0009lx5z Abnormalities of the arcuate arterial lumen 2021-06-23 22:21:46+00:00 peter owl:Class HP:0033295 biolink:NamedThing Mesangial Immune complex deposition Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. hp0009lx5z 2020-11-28 21:33:16+00:00 peter owl:Class HP:0002708 biolink:NamedThing Prominent median palatal raphe Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate. hp0009lx5z Prominent medial palatal suture|Prominent central palatal ridge|Prominent central ridge on roof of the mouth UMLS:C1845108 human_phenotype owl:Class HP:0100952 biolink:NamedThing Enlarged sylvian cistern An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure). hp0009lx5z Enlarged lateral fissure|Enlarged lateral sulcus|Enlarged sylvian fissure doelkens 2011-12-02T04:47:51Z UMLS:C4020921 owl:Class HP:0100732 biolink:NamedThing Pancreatic fibrosis hp0009lx5z doelkens 2011-06-06T05:06:26Z UMLS:C0267952|SNOMEDCT_US:25942009 human_phenotype owl:Class HP:0008309 biolink:NamedThing Medium chain dicarboxylic aciduria An increase in the level of medium chain dicarboxylic acid in the urine. hp0009lx5z UMLS:C1860081 owl:Class HP:0007414 biolink:NamedThing Neonatal wrinkled skin of hands and feet hp0009lx5z Wrinkled skin of hands and feet in newborn UMLS:C4024884 human_phenotype owl:Class HP:0011641 biolink:NamedThing Coronary artery fistula A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel. hp0009lx5z Coronary fistula Coronary artery fistulas are congenital malformations. This term does not apply to surgical fistulas. peter 2012-04-09T08:54:51Z SNOMEDCT_US:373093003|UMLS:C0265898|Fyler:2230 human_phenotype owl:Class HP:0011686 biolink:NamedThing Abnormal coronary artery course An abnormal path of a coronary artery. hp0009lx5z Anomalous coronary artery course peter 2012-04-10T08:37:35Z UMLS:C0345122|SNOMEDCT_US:253714001 human_phenotype owl:Class HP:0011527 biolink:NamedThing Lentiglobus Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging. hp0009lx5z Bulging of eye lens peter 2012-04-06T09:17:01Z SNOMEDCT_US:419281007|UMLS:C4280322|UMLS:C1622439 human_phenotype owl:Class HP:0001785 biolink:NamedThing Ankle swelling hp0009lx5z Ankle swelling UMLS:C0235439|SNOMEDCT_US:26237000|SNOMEDCT_US:267039000 human_phenotype owl:Class HP:0004024 biolink:NamedThing Medially sloping radial metaphysis hp0009lx5z UMLS:C4025436 human_phenotype owl:Class HP:0009201 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger. hp0009lx5z Speckled calcifications in end part of the innnermost bone of the little finger|Speckled calcifications in end part of the innnermost bone of the pinkie finger|Speckled calcifications in end part of the innnermost bone of the pinky finger doelkens 2009-01-05T05:11:42Z UMLS:C4024539 human_phenotype owl:Class HP:0005576 biolink:NamedThing Tubulointerstitial fibrosis A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy. hp0009lx5z Tubulointerstitial renal fibrosis|Tubulointerstitial scarring This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. Tubulointerstitial renal fibrosis, characterized as a progressive detrimental connective tissue deposition on the kidney parenchyma, appears to be a harmful process leading inevitably to renal function deterioration, independently of the primary renal disease which causes the original kidney injury. Epithelial to Mesenchymal Transition (EMT) of tubular epithelial cells which are transformed to mesenchymal fibroblasts migrating to adjacent interstitial parenchyma constitutes the principal mechanism of renal fibrosis along with local and circulating cells. (PMID:20011086) HP:0004714|HP:0000129|HP:0008171 UMLS:C1969372 human_phenotype owl:Class HP:0009791 biolink:NamedThing Bifid sacrum Presence of a bifid sacral bone. hp0009lx5z peter 2009-02-03T05:22:25Z UMLS:C4024204 human_phenotype owl:Class HP:0100300 biolink:NamedThing Desmin bodies hp0009lx5z doelkens 2010-08-10T02:28:49Z UMLS:C4022158 human_phenotype owl:Class HP:0033861 biolink:NamedThing Multilamellation of cortical peritubular capillary basement membranes Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. hp0009lx5z Multilamellation of basement membranes within cortical peritubular capillaries 2021-06-23 17:37:14+00:00 peter owl:Class HP:0033034 biolink:NamedThing Anti-citrullinated protein antibody positivity The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen. hp0009lx5z ACPAs are the major autoantibodies in rheumatoid arthritis and are highly specific. They are useful in the diagnosis and in the prediction oft he course and outcome of rheumatoid arthritis. peter owl:Class HP:0007685 biolink:NamedThing Peripheral retinal avascularization hp0009lx5z UMLS:C1851406 human_phenotype owl:Class HP:3000015 biolink:NamedThing Abnormality of risorius muscle An abnormality of a risorius muscle. hp0009lx5z vasilevs 2015-02-26T03:58:51Z UMLS:C4073224 human_phenotype owl:Class HP:0100291 biolink:NamedThing Abnormality of central somatosensory evoked potentials hp0009lx5z doelkens 2010-08-10T01:31:37Z UMLS:C4022163 human_phenotype owl:Class HP:0410214 biolink:NamedThing Hypercapnia in cord blood Abnormally elevated blood carbon dioxide (CO2) level in the cord blood. hp0009lx5z High cord blood carbon dioxide level 2018-09-12 00:44:30+00:00 owl:Class HP:0032137 biolink:NamedThing Decreased circulating IgG3 level A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation. hp0009lx5z Decreased IgG3 level in blood 2018-11-22 14:29:27+00:00 peter owl:Class HP:0004446 biolink:NamedThing Stomatocytosis The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. hp0009lx5z Red cell stomatocytosis|erythrocyte stomatocytes peter 2008-03-18T10:05:00Z HP:0004801 UMLS:C0677598 human_phenotype owl:Class HP:0032630 biolink:NamedThing Intratubular light-chain casts The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. hp0009lx5z This feature can be ascertained by (i) Light microscopy: The biopsy shows chronic tubulointerstitial nephritis with fractured casts that first involve the distal tubules. The casts have a metachromatic appearance due to their mixed composition of light chain (Bence-Jones) and Tamm-Horsfall (uromodulin) proteins. Surrounding cellular reaction can extend to formation of syncytial giant cells, and in the early phase may be a polymorphonuclear granulocyte reaction. (ii) Immunofluorescence microscopy: Monoclonal staining of casts for either kappa or lambda light chains confirm the diagnosis, but clonal staining may be absent in some cases. Staining of formalin-fixed paraffin-embedded material after pronase digestion may unmask clonal staining in some of these cases. (iii) Electron microscopy: Glomeruli are unremarkable, and casts show granular electron-dense material. Crystalline substructure may be seen within these light chain casts. In rare cases, deposits of amyloid may form on the surface of the casts. peter owl:Class HP:0033535 biolink:NamedThing Reduced platelet dense granules Decreased number of platelet dense granules, a type of platelet organelle. hp0009lx5z 2021-01-15 13:04:19+00:00 peter owl:Class HP:0007985 biolink:NamedThing Retinal arteriolar occlusion Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. hp0009lx5z Blocked retinal artery UMLS:C4024761 human_phenotype owl:Class HP:3000049 biolink:NamedThing Abnormal greater palatine artery morphology An abnormality of a greater palatine artery. hp0009lx5z Abnormality of greater palatine artery The greater palatine artery is a terminal branch of the maxillary artery that supplies blood to the hard palate and nasal septum. vasilevs 2015-08-07T01:08:50Z UMLS:C4073257 human_phenotype owl:Class HP:0011445 biolink:NamedThing Athetoid cerebral palsy A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone. hp0009lx5z Dyskinetic cerebral palsy Athetoid cerebral palsy is caused by damage to the basal ganglia. peter 2012-03-18T03:53:04Z SNOMEDCT_US:75019001|UMLS:C0270742|MSH:D002547|SNOMEDCT_US:230780007 human_phenotype owl:Class HP:0002821 biolink:NamedThing Neuropathic arthropathy hp0009lx5z Charcot arthropathy|Charcot joint SNOMEDCT_US:67536000|MSH:D001177|SNOMEDCT_US:359554008|UMLS:C0003892 human_phenotype owl:Class HP:0009747 biolink:NamedThing Lumbosacral hirsutism Abnormally increased hair growth in the lumbosacral region. hp0009lx5z peter 2009-01-31T03:21:52Z UMLS:C1851095 human_phenotype owl:Class HP:0009752 biolink:NamedThing Cleft in skull base A bony defect in the skull base. hp0009lx5z Cleft in skull base|Cleft in cranial base peter 2009-01-31T05:45:00Z UMLS:C1856027 human_phenotype owl:Class HP:0003281 biolink:NamedThing Increased circulating ferritin concentration Increased concentration of ferritin in the blood circulation. hp0009lx5z Increased plasma ferritin|Hyperferritinaemia|Increased ferritin|High ferritin level|Hyperferritinemia|Increased serum ferritin level|Elevated serum ferritin Ferritin is a ubiquitous intracellular protein that stores iron. Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. UMLS:C0743912|UMLS:C3854388|UMLS:C0241013 owl:Class HP:0007994 biolink:NamedThing Peripheral visual field loss Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. hp0009lx5z Tunnel vision|Kalnienk vision|Loss of peripheral vision UMLS:C2937228|SNOMEDCT_US:420990001|UMLS:C0241688 human_phenotype owl:Class HP:0031702 biolink:NamedThing Anterior chamber red blood cells The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye. hp0009lx5z Anterior chamber RBCs 2017-12-18 00:15:42+00:00 The terms for anterior chamber cells can be used to select the grade (total number of cells) and then Anterior chamber red blood cells or inflammatory cells can be chosen to specificy whether one or both cells are present. In some scenarios, both cell types may be observed, e.g., followiong trauma. peter owl:Class HP:0025325 biolink:NamedThing Sparse medial eyebrow Decreased density/number and/or decreased diameter of medial eyebrow hairs. hp0009lx5z Medial thinning of eyebrow 2017-02-04 16:43:31+00:00 HPO:probinson owl:Class HP:0006577 biolink:NamedThing Macronodular cirrhosis A type of cirrhosis characterized by the presence of large regenerative nodules. hp0009lx5z In macronodular cirrhosis (post-necrotic cirrhosis), the nodules are larger than 3 mm. SNOMEDCT_US:43904005|UMLS:C2004456|SNOMEDCT_US:86454000 human_phenotype owl:Class HP:0001394 biolink:NamedThing Cirrhosis A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. hp0009lx5z Scar tissue replaces healthy tissue in the liver|Hepatic cirrhosis|Liver cirrhosis Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. UMLS:C0023890|SNOMEDCT_US:19943007|MSH:D008103 owl:Class HP:0025225 biolink:NamedThing Triggered by sound Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise. hp0009lx5z Triggered by sound|Sound triggered symptoms 2016-12-10 14:09:30+00:00 For instance, seizures associated with autosomal dominant partial epilepsy with auditory features may be triggered by certain sounds such as telephone ringing or speech. HPO:probinson owl:Class HP:0033124 biolink:NamedThing Increased serum sorbitol concentration An increased level of sorbitol in the blood circulation. hp0009lx5z 2020-09-05 13:02:12+00:00 peter owl:Class HP:0006156 biolink:NamedThing Ulnar deviation of thumb Bending or curvature of a thumb towards the ulnar side (towards the ring finger). hp0009lx5z Ulnar deviation of the 1st finger|Curved thumb deviated towards palm UMLS:C4280465|SNOMEDCT_US:299137000|UMLS:C0575904 human_phenotype owl:Class HP:0100318 biolink:NamedThing Lafora bodies An intraneuronal inclusion body composed of acid mucopolysaccharides. hp0009lx5z doelkens 2010-08-10T03:37:06Z UMLS:C0333749|SNOMEDCT_US:87554006 human_phenotype owl:Class HP:0031361 biolink:NamedThing Zebra bodies Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images. hp0009lx5z 2017-08-27 16:00:15+00:00 peter owl:Class HP:0031340 biolink:NamedThing Abnormal lysosomal morphology A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids. hp0009lx5z 2017-08-27 13:46:19+00:00 peter owl:Class HP:0003774 biolink:NamedThing Stage 5 chronic kidney disease A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. hp0009lx5z End stage renal failure|End-stage renal failure|Stage 5 chronic kidney disease|Chronic renal failure|End stage renal disease|Renal failure, endstage|End-stage renal disease Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease. HP:0004720|HP:0005570|HP:0004725|HP:0000101|HP:0004733|HP:0004738 UMLS:C2316810|SNOMEDCT_US:433146000 human_phenotype owl:Class HP:0005817 biolink:NamedThing Postaxial polysyndactyly of foot Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe). hp0009lx5z UMLS:C4021824 human_phenotype owl:Class HP:0100635 biolink:NamedThing Carotid paraganglioma A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery. hp0009lx5z doelkens 2010-12-29T05:20:58Z UMLS:C4022005 human_phenotype owl:Class HP:0100328 biolink:NamedThing Carpometacarpal synostosis Fusion involving carpal and metacarpal bones. hp0009lx5z Fused wrist bones and long bones of hand doelkens 2010-10-08T03:52:00Z UMLS:C4022145 human_phenotype owl:Class HP:0003182 biolink:NamedThing Shallow acetabular fossae hp0009lx5z Shallow acetabular fossa|Shallow acetabula|Shallow acetabulum|Shallow acetabulae UMLS:C1854910|UMLS:C1860796 human_phenotype owl:Class HP:0030943 biolink:NamedThing Vulvodynia Pain in the vulvar area hp0009lx5z Vulvar pain 2016-12-14 13:34:48+00:00 robinp owl:Class HP:0006647 biolink:NamedThing Congenital microthorax hp0009lx5z UMLS:C4025011 human_phenotype owl:Class HP:0010513 biolink:NamedThing Pituitary calcification Deposition of calcium salts in the pituitary gland. hp0009lx5z peter 2009-09-19T04:09:21Z UMLS:C4023797 human_phenotype owl:Class HP:0030977 biolink:NamedThing Increased factor VIII activity Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. hp0009lx5z 2017-05-10 23:00:13+00:00 Levels of Factor VIII above 250 IU/dL are associated with an increased risk of venous thrombosis. robinp owl:Class HP:0032397 biolink:NamedThing Citrullinuria An increased concentration of citrulline in the urine. hp0009lx5z 2019-02-24 16:59:47+00:00 Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle. peter owl:Class HP:0010698 biolink:NamedThing Nuclear pulverulent cataract A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus. hp0009lx5z Central pulverulent cataract|Coppock-like cataract|cataracta pulverulenta centralis|Pulverulent nuclear cataract peter 2010-03-20T02:53:02Z UMLS:C4021237 human_phenotype owl:Class HP:0011764 biolink:NamedThing Pituitary spindle cell oncocytoma A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular. hp0009lx5z peter 2012-04-22T03:57:01Z UMLS:C4023200 human_phenotype owl:Class HP:0007412 biolink:NamedThing Macular hyperpigmented dermopathy hp0009lx5z UMLS:C4024885 human_phenotype owl:Class HP:0006897 biolink:NamedThing Abducens palsy Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. hp0009lx5z Lateral rectus muscle denervation paresis|Cranial nerve VI palsy|Abducens nerve palsy|Abducens nerve paresis|Sixth nerve palsy|Abducens nerve paralysis Affected individuals may experience diplopia as well as esotropia or convergent strabismus. HP:0011349 SNOMEDCT_US:398963001|SNOMEDCT_US:398760006|SNOMEDCT_US:398925009|UMLS:C0271355|MSH:D020434|MSH:C564661 owl:Class HP:0032329 biolink:NamedThing Increased urinary 11-deoxycortisol level An abnormally elevated concentration of 11-deoxycortisol in the urine. hp0009lx5z 2019-02-18 13:41:41+00:00 Increased urinary 11-Deoxycortisol is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. peter owl:Class HP:0033702 biolink:NamedThing Subpleural curvilinear line This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present). hp0009lx5z 2021-03-12 12:28:43+00:00 Though described in the context of asbestosis, subpleural curvilinear line is not specific for asbestosis. See Figure 68 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0500110 biolink:NamedThing Positive urine cannabinoid test Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine. hp0009lx5z Positive urine marijuana test|Postive urine pot test 2018-06-25 15:40:37+00:00 Cannabis (marijuana, hashish) is the most widely used illegal drug in the world. The primary psychoactive component in cannabis is delta9-tetrahydrocannabinol (THC), which is rapidly metabolized to equipotent 11-hydroxy-THC (11-OH-THC) and non-psychoactive 11-nor-9-carboxy- delta9-tetrahydrocannabinol (THCCOOH). owl:Class HP:0410217 biolink:NamedThing Reduced blood 5-methyltetrahydrofolate level A decreased concentration of 5-methyltetrahydrofolate in the blood. hp0009lx5z Reduced serum methylfolate Level 2018-09-12 00:51:49+00:00 owl:Class HP:0004969 biolink:NamedThing Peripheral pulmonary artery stenosis Stenosis of a peripheral branch of the pulmonary artery. hp0009lx5z Narrowing of peripheral lung artery|Peripheral pulmonic stenosis|peripheral pulmonary stenosis HP:0004957 UMLS:C0345030|SNOMEDCT_US:253631001 human_phenotype owl:Class HP:0012521 biolink:NamedThing Optic nerve aplasia Congenital absence of the optic nerve. hp0009lx5z Absent optic nerve|Aplastic optic nerve peter 2013-12-12T02:15:31Z UMLS:C4021084 human_phenotype owl:Class HP:0410385 biolink:NamedThing Decreased proportion of CD8-positive, alpha-beta memory T cells Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp0009lx5z owl:Class HP:0410372 biolink:NamedThing Increased Tn-antigen level An abnormal increase in the concentration of Tn antigen on glycoproteins. hp0009lx5z Increased O-GalNac on glycoprotein concentration owl:Class HP:0032852 biolink:NamedThing Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0004320 biolink:NamedThing Vaginal fistula The presence of a fistula of the vagina. hp0009lx5z peter 2008-02-25T12:17:00Z MSH:D014624|UMLS:C0042253|SNOMEDCT_US:45135002 human_phenotype owl:Class HP:0025253 biolink:NamedThing Claustrophobia An abnormal fear of being in a closed or narrow space with no escape. hp0009lx5z 2016-12-17 14:14:59+00:00 HPO:probinson owl:Class HP:0100497 biolink:NamedThing Vitamin B3 deficiency hp0009lx5z Vitamin B3 deficiency doelkens 2010-12-17T04:14:51Z UMLS:C0030783|SNOMEDCT_US:418186002|SNOMEDCT_US:418279001|MSH:D010383 human_phenotype owl:Class HP:0031915 biolink:NamedThing Stable This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time. hp0009lx5z 2018-07-01 21:31:19+00:00 peter owl:Class HP:0001571 biolink:NamedThing Multiple impacted teeth The presence of multiple impacted teeth. hp0009lx5z Impacted teeth|Multiple impacted teeth|Multiple retained teeth|Multiple buried teeth UMLS:C4280593|UMLS:C1839965 owl:Class HP:0032690 biolink:NamedThing Focal aware cognitive seizure with dyscalculia/acalculia A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0012863 biolink:NamedThing Abnormal male germ cell morphology A structural anomaly of a male reproductive cell. hp0009lx5z hecht 2014-06-09T10:05:33Z UMLS:C4022703 human_phenotype owl:Class HP:0007178 biolink:NamedThing Motor polyneuropathy hp0009lx5z Peripheral motor neuropathy HP:0007278 UMLS:C0271683|MSH:D009443|UMLS:C0235025|SNOMEDCT_US:85423005|MSH:D011115|SNOMEDCT_US:95663000 human_phenotype owl:Class HP:0000675 biolink:NamedThing Macrodontia of permanent maxillary central incisor Increased size of the maxillary central secondary incisor tooth. hp0009lx5z Large permanent upper central incisor|Long maxillary central incisors|Increased size of permanent maxillary central incisor|Increased width of permanent maxillary central incisor|Increased width of permanent upper central incisor|Large permanent maxillary central incisor|Prominent upper incisors|Hypertrophy of permanent maxillary central incisor|Prominent, protruding upper incisors|Increased size of permanent upper central incisor|Hyperplasia of permanent maxillary central incisor UMLS:C4280620|UMLS:C4280621|UMLS:C4280263|UMLS:C1835095 human_phenotype owl:Class HP:0025007 biolink:NamedThing Ectopic fovea An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina. hp0009lx5z Ectopic macula 2016-08-06 23:07:53+00:00 HPO:probinson owl:Class HP:0003577 biolink:NamedThing Congenital onset A phenotypic abnormality that is present at birth. hp0009lx5z Intrauterine onset|Onset at birth|Symptoms present at birth|Onset in utero|Prenatal onset Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674). HP:0003601|HP:0003595|HP:0003660|HP:0003666|HP:0003624 UMLS:C1836142|UMLS:C2752013 human_phenotype owl:Class HP:0004943 biolink:NamedThing Accelerated atherosclerosis Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. hp0009lx5z Accelerated plaque build-up in arteries UMLS:C4280504|UMLS:C1849618 human_phenotype owl:Class HP:0004631 biolink:NamedThing Decreased cervical spine flexion due to contractures of posterior cervical muscles hp0009lx5z Inability to touch chin to chest|Contracture of post-cervical muscles UMLS:C1839653|UMLS:C4280512 human_phenotype owl:Class HP:0032271 biolink:NamedThing Extrapulmonary tuberculosis A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. hp0009lx5z Extrapulmonary TB 2019-01-27 20:39:11+00:00 Extrapulmonary involvement can be seen in patients with concurrent AIDS and tuberculosis. The risk of extrapulmonary tuberculosis and mycobacteremia increases with advancing immunosuppression. peter owl:Class HP:0012594 biolink:NamedThing Moderate albuminuria The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol). hp0009lx5z High urine albumin levels|Microalbuminuria peter 2014-01-16T05:54:41Z UMLS:C0730345|UMLS:C1654921|SNOMEDCT_US:312975006 owl:Class HP:0008162 biolink:NamedThing Asymptomatic hyperammonemia An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. hp0009lx5z Hyperammonemia, asymptomatic UMLS:C4021552 human_phenotype owl:Class HP:0100583 biolink:NamedThing Corneal perforation A rupture of the cornea through which a portion of the iris protrudes. hp0009lx5z Iridocele doelkens 2010-12-27T02:52:19Z HP:0100793 UMLS:C0948060|UMLS:C0339293|SNOMEDCT_US:74895004|MSH:D057112 human_phenotype owl:Class HP:0025318 biolink:NamedThing Ovarian carcinoma A malignant neoplasm originating from the surface ovarian epithelium. hp0009lx5z Ovarian epithelial cancer 2017-01-25 14:30:43+00:00 HPO:probinson NCIT:C4908 owl:Class HP:0020103 biolink:NamedThing Invasive pulmonary aspergillosis Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis. hp0009lx5z 2019-04-08 19:17:44+00:00 Invasive pulmonary aspergillosis usually occurs in severely immunocompromised patients. Classic at-risk patients are those with prolonged neutropenia, either due to chemotherapy or immunosuppressive therapy, post hematopoietic stem cell transplant (SCT), or solid organ transplant. robinp owl:Class HP:0007590 biolink:NamedThing Aplasia cutis congenita over posterior parietal area hp0009lx5z UMLS:C1863495 human_phenotype owl:Class HP:0100217 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 5th toe hp0009lx5z Fragmentation of the end part of the middle bone of the little toe|Fragmentation of the end part of the middle bone of the pinky toe|Fragmentation of the end part of the middle bone of the pinkie toe doelkens 2010-06-24T05:04:00Z UMLS:C4022204 human_phenotype owl:Class HP:0005726 biolink:NamedThing Thumbs hypoplastic with bulbous tips hp0009lx5z Short thumbs with bulbous tips UMLS:C4025146 human_phenotype owl:Class HP:0007403 biolink:NamedThing Hypertrophy of skin of soles hp0009lx5z Thick skin of soles UMLS:C1867617 human_phenotype owl:Class HP:0025562 biolink:NamedThing Anterior chamber cells grade 0.5+ Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp0009lx5z 2017-12-14 13:17:41+00:00 HPO:probinson owl:Class HP:0025146 biolink:NamedThing Foveal degeneration Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina. hp0009lx5z 2016-11-29 11:24:05+00:00 HPO:probinson owl:Class HP:0005525 biolink:NamedThing Spontaneous hemolytic crises hp0009lx5z UMLS:C4025184 human_phenotype owl:Class HP:0045035 biolink:NamedThing Decreased urinary copper concentration hp0009lx5z Decreased urinary copper concentration HPO:skoehler UMLS:C4073164 owl:Class HP:0045036 biolink:NamedThing Abnormal urinary copper concentration hp0009lx5z Abnormal urinary copper concentration HPO:skoehler UMLS:C4073165 owl:Class HP:0031782 biolink:NamedThing Microtropia without identity A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test. hp0009lx5z 2018-01-28 11:44:11+00:00 peter owl:Class HP:0011385 biolink:NamedThing Absent internal auditory canal Aplasia of the internal auditory canal. hp0009lx5z peter 2012-03-09T07:33:46Z UMLS:C4023384 human_phenotype owl:Class HP:0011384 biolink:NamedThing Abnormality of the internal auditory canal An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse. hp0009lx5z Abnormality of the internal acoustic meatus peter 2012-03-09T07:26:47Z UMLS:C4021155 human_phenotype owl:Class HP:0002604 biolink:NamedThing Gastrointestinal telangiectasia Telangiectasia affecting the gastrointestinal tract. hp0009lx5z GI telangiectasia|Small, enlarged blood vessels near skin Telangiectasia affecting stomach, duodenum, small bowel, and/or colon. UMLS:C1619711 human_phenotype owl:Class HP:0005950 biolink:NamedThing Laryngeal web A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. hp0009lx5z Laryngeal webs|Partial laryngeal atresia Manifestations may appear at any age (hoarse or weak voice and frequent upper respiratory infections) but onset usually occurs during infancy (respiratory distress, stridor and an unusual cry). UMLS:C0281890|SNOMEDCT_US:297159008 human_phenotype owl:Class HP:0410365 biolink:NamedThing Increased disialylated core 1 O-glycan level An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins. hp0009lx5z Increased disialyl T-antigen concentration owl:Class HP:0004450 biolink:NamedThing Preauricular skin furrow A groove of the skin immediately in front of the ear. hp0009lx5z Skin sulcus in front of the ear|Preauricular skin furrows|Preauricular skin groove|Preauricular skin sulcus|Skin groove in front of the ear UMLS:C1852411 human_phenotype owl:Class HP:0006208 biolink:NamedThing Metaphyseal cupping of proximal phalanges Metaphyseal cupping affecting the proximal phalanges. hp0009lx5z UMLS:C1834980 human_phenotype owl:Class HP:0002073 biolink:NamedThing Progressive cerebellar ataxia hp0009lx5z Progressive ataxia|Cerebellar ataxia, progressive HP:0002496|HP:0001329|HP:0007331 SNOMEDCT_US:230233000|UMLS:C0393525 human_phenotype owl:Class HP:0001222 biolink:NamedThing Spatulate thumbs Spoon-shaped, broad thumbs. hp0009lx5z Spoon shaped thumbs UMLS:C0241395 human_phenotype owl:Class HP:0011145 biolink:NamedThing Symptomatic seizures A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. hp0009lx5z While all patients with epilepsy experience seizures, not all individuals with seizures have epilepsy. One or more epileptic seizures may occur in the context of a brain insult (systemic, toxic, or metabolic). These events (defined acute symptomatic seizures, provoked seizures, or situation-related seizures) are presumed to be an acute manifestation of the insult and may not recur when the underlying cause has been removed or the acute phase has elapsed. peter 2011-10-18T01:40:33Z UMLS:C4023516 human_phenotype owl:Class HP:0012077 biolink:NamedThing Histrionic personality disorder A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention. hp0009lx5z hecht 2012-08-11T02:38:39Z SNOMEDCT_US:55341008|MSH:D006677|ICD-10:F60.4|UMLS:C0019681 human_phenotype owl:Class HP:0100675 biolink:NamedThing Vaginal pyocele hp0009lx5z "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. doelkens 2010-12-30T01:36:39Z UMLS:C4022000 human_phenotype owl:Class HP:0009616 biolink:NamedThing Bifid first metacarpal Partial duplication of the first metacarpal bone. hp0009lx5z partial duplication of the first metacarpal|Notched first long bone of hand In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape. doelkens 2009-01-29T04:06:17Z UMLS:C4021423 human_phenotype owl:Class HP:0007856 biolink:NamedThing Punctate opacification of the cornea Punctate opacification (reduced transparency) of the corneal stroma. hp0009lx5z Punctate corneal opacities HP:0008004 UMLS:C4021565 human_phenotype owl:Class HP:0500266 biolink:NamedThing Decreased proportion of CD8-positive, alpha-beta TEMRA T cells An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. hp0009lx5z Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated 2020-05-15 19:36:00+00:00 owl:Class HP:0004850 biolink:NamedThing Recurrent deep vein thrombosis Repeated episodes of the formation of a blot clot in a deep vein. hp0009lx5z Recurrent deep vein blood clot|Recurrent venous thrombosis SNOMEDCT_US:710167004|UMLS:C1735901 human_phenotype owl:Class HP:0025089 biolink:NamedThing Feculent vomiting Vomiting of material that is of fecal origin. hp0009lx5z Fecal vomiting|Vomiting fecal matter|Vomiting faecal matter|Stercoraceous vomiting|Faecal vomiting 2016-10-24 00:38:50+00:00 Feculent vomiting is usually due to mechanical intestinal obstruction but it can be due to paralytic obstruction (adynamic ileus). HPO:probinson owl:Class HP:0012064 biolink:NamedThing Unicameral bone cyst A benign fluid filled simple cyst of bone filled with serous fluid. hp0009lx5z hecht 2012-08-03T02:42:14Z UMLS:C4082185|SNOMEDCT_US:203467005|SNOMEDCT_US:112643007 human_phenotype owl:Class HP:0030810 biolink:NamedThing Abnormal tongue physiology Any functional anomaly of the tongue. hp0009lx5z UMLS:C4280754 owl:Class HP:0005476 biolink:NamedThing Widely patent sagittal suture The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. hp0009lx5z UMLS:C1856779 human_phenotype owl:Class HP:0005598 biolink:NamedThing Facial telangiectasia in butterfly midface distribution Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. hp0009lx5z Butterfly facial telangiectasia UMLS:C4021632 human_phenotype owl:Class HP:0007380 biolink:NamedThing Facial telangiectasia Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. hp0009lx5z Facial telangiectatic vessels|Telangiectasia, facial HP:0007520 UMLS:C0858684 human_phenotype owl:Class HP:0001327 biolink:NamedThing Photosensitive myoclonic seizure Generalised myoclonic seizure provoked by flashing or flickering light. hp0009lx5z Photically induced myoclonic seizure|Photomyoclonic seizures|Photomyoclonic seizure UMLS:C4025791 human_phenotype owl:Class HP:0008444 biolink:NamedThing Posterior wedging of vertebral bodies An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). hp0009lx5z Posterior wedging UMLS:C1969679 human_phenotype owl:Class HP:0032484 biolink:NamedThing Elevated fecal sodium An elevated concentration of sodium in feces. hp0009lx5z Elevated faecal sodium 2019-04-11 11:38:39+00:00 peter owl:Class HP:0100708 biolink:NamedThing Abnormal microglia morphology An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells. hp0009lx5z Abnormality of the microglia Microglial cells represent a central nervous system macrophage found in the parenchyma of the central nervous system. doelkens 2011-04-03T02:37:09Z UMLS:C4021990 owl:Class HP:0005187 biolink:NamedThing Progressive joint destruction hp0009lx5z UMLS:C4025243 human_phenotype owl:Class HP:0002553 biolink:NamedThing Highly arched eyebrow Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. hp0009lx5z High, rounded eyebrows|Thick, flared eyebrows|Broad, arched eyebrows|Bowed and upward slanting eyebrows|High-arched eyebrows|High arched eyebrows|Arched eyebrows|Highly arched eyebrow Most eyebrows have some arch with downturning medially and laterally. HP:0001584|HP:0008505|HP:0007681|HP:0004533|HP:0007804 UMLS:C4020849|UMLS:C1868571 human_phenotype owl:Class HP:0100881 biolink:NamedThing Congenital mesoblastic nephroma Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. hp0009lx5z Congenital mesoblastic nephroma is more common in males. doelkens 2011-12-01T02:44:52Z UMLS:C1332965|MSH:D018201 human_phenotype owl:Class HP:0032145 biolink:NamedThing Sural nerve atrophy Wasting of the sural nerve, a sensory nerve in the calf region of the leg. hp0009lx5z Atrophy of sural nerve 2018-11-22 16:26:37+00:00 peter owl:Class HP:0004844 biolink:NamedThing Coombs-positive hemolytic anemia A type of hemolytic anemia in which the Coombs test is positive. hp0009lx5z Coombs-positive hemolytic anaemia|Direct Coombs positive The Coombs test measures a coating of immunoglobulin or complement on the red cell surface. HP:0003539 SNOMEDCT_US:74789008|UMLS:C0520736 human_phenotype owl:Class HP:0009890 biolink:NamedThing High anterior hairline Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. hp0009lx5z High frontal hairline This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead. peter 2009-04-30T06:34:27Z UMLS:C3276036 owl:Class HP:0025377 biolink:NamedThing Triggered by exertion Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise. hp0009lx5z Triggered by physical exercise|Exertion triggered symptoms 2017-04-08 13:36:52+00:00 For convenience, several HPO terms exist with the phrase 'Exercise-induced' in their label. This is meant to be logically equvalent to the combination of the basis term and this modifier. HPO:probinson owl:Class HP:0031303 biolink:NamedThing Femoral arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery. hp0009lx5z 2017-08-26 21:04:24+00:00 peter owl:Class HP:0031898 biolink:NamedThing Rouleaux formation Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells. hp0009lx5z Increased rouleaux formation 2018-05-19 15:09:54+00:00 peter owl:Class HP:0033205 biolink:NamedThing Biceps hyperreflexia Increased intensity of the biceps reflex. hp0009lx5z 2020-10-11 14:38:36+00:00 To test the biceps reflex, the examinar should support the forearm of the patient, e.g., by placing it on the forearm of the examiner. The arm is midway between flexion and extension. The examiner places a thumb firmly over the biceps tendon, with the fingers curling around the elbow, and taps briskly. With a normal response, the forearm will flex at the elbow. peter owl:Class HP:0006719 biolink:NamedThing Benign gastrointestinal tract tumors hp0009lx5z Benign GI tract tumors|Non-cancerous GI tumors|Benign GI tract tumours|Benign gastrointestinal tract tumours|Non-cancerous GI tumours SNOMEDCT_US:92118007|UMLS:C0497538 human_phenotype owl:Class HP:0011803 biolink:NamedThing Bifid nose Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. hp0009lx5z Cleft nose|Indented bridge of nose|Bifid nasal bridge|Cleft nasal bridge|Indentation or clefting of the nose This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip. peter 2012-04-25T08:09:58Z MSH:C535441|UMLS:C4280318|UMLS:C4280319|UMLS:C0221363|SNOMEDCT_US:204521002 human_phenotype owl:Class HP:0004122 biolink:NamedThing Midline defect of the nose This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. hp0009lx5z Central nasal defect|Midline nasal defect|Central defect of nose|Midline cleft of nose|Central cleft of nose|Midline defect of the nose peter 2009-01-21T04:59:54Z HP:0003190 UMLS:C4280539|UMLS:C4025411 human_phenotype owl:Class HP:0033936 biolink:NamedThing Cortical radial artery intima/media liquefactive necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. hp0009lx5z Liquefactive necrosis within interlobular arterial intima/media 2021-06-24 01:39:31+00:00 peter owl:Class HP:0410281 biolink:NamedThing Dyspepsia A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur. hp0009lx5z Indigestion 2018-11-06 23:08:26+00:00 owl:Class HP:0032696 biolink:NamedThing Focal cognitive seizure with receptive dysphasia/aphasia A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation. hp0009lx5z This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. peter owl:Class HP:0002494 biolink:NamedThing Abnormal rapid eye movement sleep Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements. hp0009lx5z Abnormal REM sleep UMLS:C0392188|SNOMEDCT_US:69020003 human_phenotype owl:Class HP:0009953 biolink:NamedThing Partial duplication of the middle phalanx of the 2nd finger Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Partial duplication of the middle bone of the index finger doelkens 2009-05-15T02:05:27Z UMLS:C4024149 human_phenotype owl:Class HP:0030166 biolink:NamedThing Night sweats Occurrence of excessive sweating during sleep. hp0009lx5z Night sweats|Nocturnal hyperhidrosis Nighttime sweating is a symptom linked to menopause, malignancies, autoimmune diseases, and infections. UMLS:C0028081|SNOMEDCT_US:42984000 owl:Class HP:0025517 biolink:NamedThing Hypoplastic hippocampus Underdevelopment of the hippocampus. hp0009lx5z Underdeveloped hippocampus|Small hippocampus 2017-05-16 22:42:57+00:00 HPO:probinson owl:Class HP:0009716 biolink:NamedThing Subependymal nodules Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis. hp0009lx5z peter 2009-01-30T11:57:28Z UMLS:C1968958 owl:Class HP:0007929 biolink:NamedThing Peripheral retinal detachment Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina. hp0009lx5z UMLS:C4024771 human_phenotype owl:Class HP:0410066 biolink:NamedThing Increased level of hippuric acid in urine An increase in the level of hippuric acid in the urine. hp0009lx5z Increased level of N-benzoylglycine in urine 2018-01-29 22:42:45+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0009732 biolink:NamedThing Plexiform neurofibroma A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. hp0009lx5z peter 2009-01-31T11:12:32Z SNOMEDCT_US:41252002|MSH:D018318|SNOMEDCT_US:403818001|UMLS:C0206728 human_phenotype owl:Class HP:0030730 biolink:NamedThing Parietal meningocele A herniation of meninges through a congenital bone defect in the skull in the parietal region. hp0009lx5z UMLS:C4280797 owl:Class HP:0030221 biolink:NamedThing Sweet craving Excessive desire to eat sweet foods. hp0009lx5z Sweet craving UMLS:C0241314 owl:Class HP:0007537 biolink:NamedThing Severe photosensitivity A severe degree of photosensitivity of the skin. hp0009lx5z Severe sun sensitivity UMLS:C1849186 human_phenotype owl:Class HP:0041073 biolink:NamedThing Fractured thoracic vertebra A partial or complete breakage of the thoracic vertebra. hp0009lx5z bone thoracic vertebra owl:Class HP:0410015 biolink:NamedThing Abnormality of ganglion of peripheral nervous system An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system. hp0009lx5z UMLS:C4073194 owl:Class HP:0004817 biolink:NamedThing Drug-sensitive hemolytic anemia A form of hemolytic anemia that is triggered by ingestion of certain drugs. hp0009lx5z Drug-sensitive hemolytic anaemia UMLS:C4025289 human_phenotype owl:Class HP:0003596 biolink:NamedThing Middle age onset A type of adult onset with onset of symptoms at the age of 40 to 60 years. hp0009lx5z Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years. UMLS:C1969363 human_phenotype owl:Class HP:0033366 biolink:NamedThing Exogenous lipoid pneumonia A type of lipoid pneumonia in which the source of the lipids is external to the body. hp0009lx5z 2020-12-16 11:50:51+00:00 Endogenous lipoid pneumonia is a histopathologic diagnosis made on the basis of the characteristic appearance of the obstructive pneumonitis. Macroscopically, there is parenchymal consolidation that has a characteristic yellowish discoloration due to the accumulation of lipid in the alveoli. Histologically, there is an accumulation of lipid-filled macrophages and eosinophilic proteinaceous material derived from degenerating cells, including surfactant from type II pneumocytes, in the alveoli distal to the bronchial obstruction. peter owl:Class HP:0025217 biolink:NamedThing Triggered by high-fat diet Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids. hp0009lx5z Triggered by high-fat diet|High-fat diet triggered symptoms 2016-12-10 14:02:17+00:00 HPO:probinson owl:Class HP:0011917 biolink:NamedThing Short 5th toe Underdevelopment (hypoplasia) of the fifth toe. hp0009lx5z Short little toe|Short pinky toe|Short fifth toe|Short pinkie toe peter 2012-06-08T08:25:00Z UMLS:C4021111 human_phenotype owl:Class HP:0005876 biolink:NamedThing Progressive flexion contractures Progressively worsening joint contractures. hp0009lx5z Joint contractures, progressive UMLS:C3279322 human_phenotype owl:Class HP:0100534 biolink:NamedThing Episcleritis Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. hp0009lx5z Inflammation of the thin layer on top of the white part of eye In contrast to conjunctivitis, with episcleritis the inflammation is generally limited to isolated parts of the sclera and is not diffuse.One can observe dilated episcleral blood vessels between regions of white sclera. doelkens 2010-12-20T05:48:22Z MSH:D015423|UMLS:C0014583|SNOMEDCT_US:815008 human_phenotype owl:Class HP:0008948 biolink:NamedThing Proximal upper limb amyotrophy Muscular atrophy affecting proximally located muscles of the arms. hp0009lx5z Proximal upper limb muscle atrophy|Proximal muscle atrophy in upper limbs HP:0008995 UMLS:C1866013 human_phenotype owl:Class HP:0011484 biolink:NamedThing Posterior synechiae of the anterior chamber Adhesions between the iris and the lens. hp0009lx5z Iridolenticular adhesions|Posterior synechiae peter 2012-04-02T08:50:59Z SNOMEDCT_US:111512005|UMLS:C0152253 human_phenotype owl:Class HP:0007833 biolink:NamedThing Anterior chamber synechiae hp0009lx5z UMLS:C4024788 human_phenotype owl:Class HP:0031559 biolink:NamedThing Reduced fibroblast CD16 level Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry. hp0009lx5z 2017-09-24 23:23:25+00:00 peter owl:Class HP:0031587 biolink:NamedThing Tessier number 30 facial cleft A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis. hp0009lx5z 2017-10-14 12:58:17+00:00 peter owl:Class HP:0008494 biolink:NamedThing Inferior lens subluxation Partial displacement of the lens in the inferior direction. hp0009lx5z Inferior subluxated lens UMLS:C2036842 human_phenotype owl:Class HP:0008593 biolink:NamedThing Prominent antitragus Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. hp0009lx5z Hypertrophic antitragus|Enlarged antitragus|Hyperplastic antitragus UMLS:C1968811 human_phenotype owl:Class HP:0040004 biolink:NamedThing Abnormality of corneal shape hp0009lx5z HPO:skoehler UMLS:C4022500 owl:Class HP:0041214 biolink:NamedThing Fractured proximal phalanx of digit 5 A partial or complete breakage of the proximal phalanx of digit 5. hp0009lx5z bone proximal phalanx of digit 5 owl:Class HP:0033075 biolink:NamedThing Inappropriately normal thyroid-stimulating hormone level A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3. hp0009lx5z Inappropriately normal TSH Inappropriately normal TSH may reflect a laboratory error, binding protein abnormalities leading to apparent elevation of FT4 (e.g. familial dysalbuminemic hyperthyroxinemia), antibody interference with measurements of FT4, FT3 or TSH, TSH-secreting pituitary tumour (TSHoma) or a syndrome of thyroid hormone resistance. peter owl:Class HP:0010939 biolink:NamedThing Abnormality of the nasal bone An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. hp0009lx5z Deformity of the nasal bones|Anomaly of the nasal bones|Malformation of the nasal bones|Abnormality of the nasal bone peter 2011-01-16T02:28:45Z UMLS:C4023637 human_phenotype owl:Class HP:0003203 biolink:NamedThing Impaired oxidative burst In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria. hp0009lx5z Negative nitroblue tetrazolium reduction test|Negative NBT reduction test The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease. UMLS:C4280805 human_phenotype owl:Class HP:0010775 biolink:NamedThing Vascular ring A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails. hp0009lx5z Vascular ring of aorta sdoelken 2010-04-29T10:18:47Z Fyler:2760|SNOMEDCT_US:66403007|SNOMEDCT_US:110409004|UMLS:C0221214 human_phenotype owl:Class HP:0005747 biolink:NamedThing Easily subluxated first metacarpophalangeal joints hp0009lx5z UMLS:C4025143 human_phenotype owl:Class HP:0004294 biolink:NamedThing Subluxation of metacarpal phalangeal joints A partial dislocation affecting some or all of the metacarpophalangeal joints. hp0009lx5z Partial knuckle dislocation|Subluxation of metacarpophalangeal joints UMLS:C4025363 human_phenotype owl:Class HP:0011393 biolink:NamedThing Aplasia of the vestibular nerve. Absence of the vestibular nerve hp0009lx5z Absent the eighth cranial nerve|Absent cranial nerve viii|Aplasia of cranial nerve VIII|Absent vestribular nerve|Aplasia of the eighth cranial nerve May be seen in CHARGE syndrome. hecht 2012-03-09T05:08:14Z UMLS:C4021153|UMLS:C4020751 human_phenotype owl:Class HP:0011392 biolink:NamedThing Abnormality of the vestibular nerve hp0009lx5z hecht 2012-03-09T05:03:47Z UMLS:C4023379 human_phenotype owl:Class HP:0031245 biolink:NamedThing Productive cough A cough that produces phlegm or mucus. hp0009lx5z Wet cough|Cough with mucus production 2017-08-12 13:19:10+00:00 peter owl:Class HP:0003481 biolink:NamedThing Segmental peripheral demyelination/remyelination A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. hp0009lx5z Segmental demyelination/remyelination HP:0003425 UMLS:C1843077 human_phenotype owl:Class HP:0100775 biolink:NamedThing Dural ectasia A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. hp0009lx5z Dural ectasia is one of the major manifestations of Marfan syndrome. It may cause low back pain, headaches and neurological signs such as weakness and loss of bowel and bladder function, but in many patients it is asymptomatic. It is also a cause of posterior vertebral scalloping present in radiographs in patients who are diagnosed with Neurofibromatosis. Dural ectasia may also manifest in Ehlers-Danlos Syndrome, cauda equina syndrome and in ankylosing spondylitis. doelkens 2011-06-07T05:22:13Z UMLS:C1851712 human_phenotype owl:Class HP:0009290 biolink:NamedThing Short distal phalanx of the 4th finger Hypoplastic/small distal phalanx of the fourth finger. hp0009lx5z Short outermost bone of ring finger|Short distal phalanx of the fourth finger|Hypoplastic/small distal phalanx of the 4th finger doelkens 2009-01-08T03:59:28Z UMLS:C4021499 human_phenotype owl:Class HP:0010192 biolink:NamedThing Triangular shaped distal phalanges of the toes hp0009lx5z Triangular shaped outermost bone of the toes doelkens 2009-05-29T01:52:41Z UMLS:C4023977 human_phenotype owl:Class HP:0011369 biolink:NamedThing Mongolian blue spot Congenital deep dermal melanosis in the sacral area. hp0009lx5z peter 2012-03-03T03:34:48Z SNOMEDCT_US:40467008|UMLS:C0265985|MSH:D049328 human_phenotype owl:Class HP:0012361 biolink:NamedThing Increased fucosylation of O-linked protein glycosylation Increased addition of fucose sugar units to O-linked glycans. hp0009lx5z peter 2013-09-15T10:34:38Z UMLS:C4022930 human_phenotype owl:Class HP:0003917 biolink:NamedThing Pointed humeral metaphysis hp0009lx5z Pointed wide portion of long bone of upper arm UMLS:C4025510 human_phenotype owl:Class HP:0200125 biolink:NamedThing Mitochondrial respiratory chain defects hp0009lx5z sebastiankohler 2013-06-11T11:22:52Z UMLS:C2751582 human_phenotype owl:Class HP:0031145 biolink:NamedThing Starry sky appearance on hepatic sonography An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background). hp0009lx5z 2017-06-11 19:50:04+00:00 peter owl:Class HP:0025516 biolink:NamedThing Coronary-pulmonary artery fistula A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery. hp0009lx5z 2017-05-16 01:14:11+00:00 HPO:probinson owl:Class HP:0008250 biolink:NamedThing Infantile hypercalcemia hp0009lx5z SNOMEDCT_US:276645004|MSH:C562999|UMLS:C0475732 human_phenotype owl:Class HP:0003072 biolink:NamedThing Hypercalcemia An abnormally increased calcium concentration in the blood. hp0009lx5z Increased calcium in blood|High blood calcium levels|Hypercalcaemia MSH:D006934|SNOMEDCT_US:166702002|SNOMEDCT_US:66931009|UMLS:C0020437 human_phenotype owl:Class HP:0011170 biolink:NamedThing Generalized myoclonic-atonic seizure A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. hp0009lx5z Myoclonic-astatic seizure|Generalised myoclonic-atonic seizure|Myoclonic atonic seizures A myoclonic-tonic seizure was previously called a myoclonic-astatic seizure. ILAE2017 does not currently consider myoclonic-atonic seizures to be a form of myoclonic seizure which is why it is classified as a motor seizure. hecht 2011-11-19T10:00:46Z SNOMEDCT_US:230421008|MSH:D004831|UMLS:C0393702 human_phenotype owl:Class HP:0030516 biolink:NamedThing Homonymous hemianopia hp0009lx5z Homonymous hemianopsia MSH:D006423|SNOMEDCT_US:34063005|UMLS:C0271202 owl:Class HP:0030798 biolink:NamedThing Abnormality of the bed nucleus of stria terminalis The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus. hp0009lx5z UMLS:C4280761 owl:Class HP:0012693 biolink:NamedThing Abnormal thalamic size Deviation from the normal range of size of the thalamus. hp0009lx5z peter 2014-03-22T05:45:51Z UMLS:C4022773 human_phenotype owl:Class HP:0033530 biolink:NamedThing Increased cardiac index An elevated cardiac index, defined as cardiac output divided by body surface area. hp0009lx5z 2021-01-15 12:53:42+00:00 peter owl:Class HP:0400008 biolink:NamedThing Menometrorrhagia Prolonged/excessive menses and bleeding at irregular intervals. hp0009lx5z SNOMEDCT_US:351814001|UMLS:C0232943|SNOMEDCT_US:314631008 owl:Class HP:0025512 biolink:NamedThing Skin-colored papule A papule with the same color as the surrounding skin. hp0009lx5z Flesh-colored papule 2017-05-15 01:07:06+00:00 HPO:probinson owl:Class HP:0001027 biolink:NamedThing Soft, doughy skin A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. hp0009lx5z Soft, doughy skin UMLS:C1849043 human_phenotype owl:Class HP:0000977 biolink:NamedThing Soft skin Subjective impression of increased softness upon palpitation of the skin. hp0009lx5z Velvety skin texture|Velvety skin|Soft skin UMLS:C1844592|UMLS:C0241178 human_phenotype owl:Class HP:0030781 biolink:NamedThing Increased circulating free fatty acid level A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. hp0009lx5z UMLS:C4280773 owl:Class HP:0010627 biolink:NamedThing Anterior pituitary hypoplasia Underdevelopment of the anterior pituitary gland. hp0009lx5z Hypoplasia of the pituitary gland|Underdeveloped pituitary gland peter 2009-12-05T03:04:48Z HP:0008238 UMLS:C1859775|UMLS:C0948740 human_phenotype owl:Class HP:0010625 biolink:NamedThing Anterior pituitary dysgenesis Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. hp0009lx5z Adenohypophysis peter 2009-12-05T03:03:17Z SNOMEDCT_US:62818001|UMLS:C0032008|UMLS:C4023771|MSH:D010903 human_phenotype owl:Class HP:0008797 biolink:NamedThing Early ossification of capital femoral epiphyses Developmental acceleration of ossification of the proximal epiphysis of the femur. hp0009lx5z UMLS:C4024621 human_phenotype owl:Class HP:0010860 biolink:NamedThing Complete breech presentation A kind of breech presentation in which the hips are flexed and the knees are flexed. hp0009lx5z peter 2010-08-03T12:34:30Z SNOMEDCT_US:49168004|UMLS:C0233283|MSH:D001946 human_phenotype owl:Class HP:0001592 biolink:NamedThing Selective tooth agenesis Agenesis specifically affecting one of the classes incisor, premolar, or molar. hp0009lx5z Agenesis of a tooth|Failure of development of a tooth|Missing a tooth|Absence of a tooth UMLS:C4280251|UMLS:C1970308 owl:Class HP:0006070 biolink:NamedThing Metacarpophalangeal joint contracture A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. hp0009lx5z Metacarpal/phalangeal joint contractures In the literature this has been called metacarpophalangeal camptodactyly, but the term camptodactyly should be researved for a painless flexion contracture of the proximal interphalangeal (PIP) joint. HP:0005674 UMLS:C2677209 human_phenotype owl:Class HP:0003744 biolink:NamedThing Genetic anticipation with paternal anticipation bias A type of genetic anticipation observed predominantly upon transmission from affected males. hp0009lx5z Paternal anticipation bias UMLS:C1834002|UMLS:C4025574 human_phenotype owl:Class HP:0003743 biolink:NamedThing Genetic anticipation A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next. hp0009lx5z This mode of inheritance is characteristic of trinucleotide and some other repeat disorders. MSH:D020132|UMLS:C0600498 human_phenotype owl:Class HP:0011504 biolink:NamedThing Bull's eye maculopathy Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. hp0009lx5z Chloroquine retinopathy peter 2012-04-06T08:57:53Z SNOMEDCT_US:424169002|UMLS:C0730330|MSH:C537833|SNOMEDCT_US:312958000|UMLS:C1828210 human_phenotype owl:Class HP:0002741 biolink:NamedThing Recurrent Serratia marcescens infections Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection. hp0009lx5z UMLS:C4025682 human_phenotype owl:Class HP:0032505 biolink:NamedThing Hydrophobia Pharyngeal spasms provoked by an attempt to drink. hp0009lx5z 2019-05-23 23:03:09+00:00 Hydrophobia has been described as a characteristic finding in rabies and can prevent patients from drinking despite intense thirst. peter owl:Class HP:0007986 biolink:NamedThing Increased retinal vascularity hp0009lx5z UMLS:C1847882 human_phenotype owl:Class HP:0007129 biolink:NamedThing Cerebellar medulloblastoma hp0009lx5z UMLS:C4024934 human_phenotype owl:Class HP:0033002 biolink:NamedThing Bronchial papilloma A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus. hp0009lx5z peter owl:Class HP:0032676 biolink:NamedThing Chronic cutaneous wound A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result. hp0009lx5z Chronic nonhealing cutaneous wound peter owl:Class HP:0033333 biolink:NamedThing Jaw contracture Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement. hp0009lx5z 2020-11-29 16:42:08+00:00 peter owl:Class HP:0012716 biolink:NamedThing Moderate conductive hearing impairment The presence of a moderate form of conductive hearing impairment. hp0009lx5z Conductive hearing loss, moderate Conductive hearing impairment with 21-40 dB deficit. peter 2014-03-23T12:40:05Z UMLS:C4021075 human_phenotype owl:Class HP:0020060 biolink:NamedThing Decreased red blood cell count An abnormal reduction below the normal number of red blood cells per volume in the circulation. hp0009lx5z Decreased RBC count 2018-09-28 23:46:01+00:00 robinp owl:Class HP:0030122 biolink:NamedThing Reduced muscle fiber perlecan Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2). hp0009lx5z Reduced muscle fibre perlecan UMLS:C4022623 owl:Class HP:0100786 biolink:NamedThing Hypersomnia hp0009lx5z Excessive sleepiness doelkens 2011-06-07T06:15:07Z UMLS:C0917799|MSH:D006970|SNOMEDCT_US:77692006 human_phenotype owl:Class HP:0005037 biolink:NamedThing Proximal radio-ulnar synostosis An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. hp0009lx5z UMLS:C2676443 human_phenotype owl:Class HP:0007548 biolink:NamedThing Palmoplantar keratosis with erythema and scale hp0009lx5z UMLS:C1843294 human_phenotype owl:Class HP:0012761 biolink:NamedThing Absent mastoid A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent. hp0009lx5z Mastoid agenesis|Absent mastoids|Failure of development of mastoid peter 2014-04-03T01:06:18Z HP:0200110 UMLS:C4021070 human_phenotype owl:Class HP:0008336 biolink:NamedThing Complex organic aciduria hp0009lx5z UMLS:C3151953 owl:Class HP:0008586 biolink:NamedThing Hypoplasia of the cochlea Developmental hypoplasia of the cochlea. hp0009lx5z Underdeveloped cochlea|Hypoplastic cochlea UMLS:C2676974 human_phenotype owl:Class HP:0005366 biolink:NamedThing Recurrent streptococcus pneumoniae infections Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. hp0009lx5z UMLS:C2169794 human_phenotype owl:Class HP:0020096 biolink:NamedThing Recurrent streptococcal infections Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections. hp0009lx5z 2019-04-08 17:59:21+00:00 robinp owl:Class HP:0031499 biolink:NamedThing Appendiceal mucinous neoplasm An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles. hp0009lx5z 2017-09-18 00:59:06+00:00 peter owl:Class HP:0000451 biolink:NamedThing Triangular nasal tip hp0009lx5z Triangular nasal tip|Triangular shaped tip of nose UMLS:C1839765 human_phenotype owl:Class HP:0009746 biolink:NamedThing Thick nasal septum Abnormally increased thickness of the nasal septum. hp0009lx5z Wide septum of nose|Thick nasal septum|Wide nasal septum|Thick septum of nose|Broad septum of nose|Broad nasal septum peter 2009-01-31T02:44:09Z UMLS:C1844810 human_phenotype owl:Class HP:0010121 biolink:NamedThing Small epiphyses of the hallux hp0009lx5z Small end part of the big toe bone doelkens 2009-05-29T01:16:38Z UMLS:C4024038 human_phenotype owl:Class HP:0032284 biolink:NamedThing Ultra-low vision with retained motion projection Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm). hp0009lx5z 2019-02-10 13:52:59+00:00 peter owl:Class HP:0001853 biolink:NamedThing Bifid distal phalanx of toe hp0009lx5z Bifid distal phalanges of toes|Notched outermost bones of toes|Bifid terminal phalanx of toe HP:0005615 UMLS:C4021772 human_phenotype owl:Class HP:0200023 biolink:NamedThing Priapism A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours. hp0009lx5z hulseyism sebastiankohler 2010-06-16T05:00:44Z UMLS:C0033117|SNOMEDCT_US:6273006|MSH:D011317 human_phenotype owl:Class HP:0006896 biolink:NamedThing Hypnopompic hallucinations Fleeting perceptual experiences that occur during the transition from sleep to wakefulness. hp0009lx5z SNOMEDCT_US:69690008|MSH:D006212|UMLS:C0424082 owl:Class HP:0003953 biolink:NamedThing Absent forearm bone Absence of one or more forearm bones associated with congenital failure of development. hp0009lx5z Absent forearm bone|Aplasia of the forearm bones UMLS:C4021701 human_phenotype owl:Class HP:0006737 biolink:NamedThing Extraadrenal pheochromocytoma Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia. hp0009lx5z Pheochromocytoma, extraadrenal HP:0006764 UMLS:C1257877|MSH:D010673 human_phenotype owl:Class HP:0006129 biolink:NamedThing Drumstick terminal phalanges Rounding and broadening of the tufts of the distal phalanges. hp0009lx5z Drumstick shaped digital bones This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg). UMLS:C1844822 human_phenotype owl:Class HP:0003241 biolink:NamedThing External genital hypoplasia Underdevelopment of part or all of the external reproductive organs. hp0009lx5z Small genitalia|Hypogenitalism|Underdevelopment of external reproductive organs Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism. HP:0000788|HP:0003245 UMLS:C1855333 human_phenotype owl:Class HP:0100770 biolink:NamedThing Hyperperistalsis Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. hp0009lx5z Stomach churning doelkens 2011-06-07T11:53:08Z SNOMEDCT_US:271838002|UMLS:C0232474|UMLS:C0857071|SNOMEDCT_US:80306002 human_phenotype owl:Class HP:0012311 biolink:NamedThing Monocytosis An increased number of circulating monocytes. hp0009lx5z High blood monocyte number peter 2013-08-10T12:09:16Z UMLS:C0085702|SNOMEDCT_US:19636003 human_phenotype owl:Class HP:0031180 biolink:NamedThing Erythema migrans An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter). hp0009lx5z Erythema chronicum migrans 2017-06-18 20:57:08+00:00 Erythema migrans develops at the site of the deposition of Borrelia burgdorferi 7 to 14 days (range, 1-36 days) following the detachment of certain Ixodes ticks. The most important differential diagnosis is a localized and transient inflammatory reaction to the bite of an arthropod that is not associated with infection and resolves spontaneously within a day or two, and is usually less than 5 cm in size. peter owl:Class HP:0032313 biolink:NamedThing Frontotemporal hypertrichosis Excessive, increased hair growth located in the region of the forehead and temple. hp0009lx5z 2019-02-14 11:05:15+00:00 peter owl:Class HP:0002219 biolink:NamedThing Facial hypertrichosis Excessive, increased hair growth located in the facial region. hp0009lx5z Increased facial hair growth UMLS:C1851400|MSH:C565029 human_phenotype owl:Class HP:0005450 biolink:NamedThing Calvarial osteosclerosis An increase in bone density affecting the calvaria (roof of the skull). hp0009lx5z UMLS:C1855657 human_phenotype owl:Class HP:0032449 biolink:NamedThing Abnormal dermoepidermal hemidesmosome morphology An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. hp0009lx5z 2019-03-03 18:24:45+00:00 Hemidesmosomes (HDs) are highly specialized integrin-mediated epithelial attachment structures that make cells firmly adhere to the extracellular matrix by establishing a link between the underlying basement membrane (BM) and the internal mechanical stress-resilient keratin intermediate filament (IF) network. Although HDs are defined by their ultrastructural appearance, two types of HDs, type I and II, can be distinguished on the basis of their protein components. Classical type I HDs, found in stratified and pseudostratified epithelia, for example in the epidermis, consist in five major components, namely integrin alpha6beta4, plectin isoform 1a (P1a), tetraspanin CD151, bullous pemphigoid antigen (BPAG)1 isoform e (BPAG1e, also called BP230) and BPAG2 (also called BP180 or type XVII collagen). Type II HDs, found in simple epithelia such as that of the intestine, consist of integrin alpha6beta4 and plectin and lack the two BP antigens. peter owl:Class HP:0100186 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 4th toe hp0009lx5z Increased bone density of end part of the middle bone of the 4th toe doelkens 2010-06-24T04:54:13Z UMLS:C4022235 human_phenotype owl:Class HP:0025172 biolink:NamedThing Smooth septal thickening on pulmonary HRCT Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa. hp0009lx5z 2016-12-04 19:28:49+00:00 HPO:probinson owl:Class HP:0410361 biolink:NamedThing Decreased core 1 O-glycan level An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins. hp0009lx5z Decreased T-antigen concentration owl:Class HP:0033926 biolink:NamedThing Renal arteriole intimal/medial multilamellation Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. hp0009lx5z Multilamellation (onion skinning) within renal arteriole intima/media|Renal arteriole intima/media multilamellation|Renal arteriole intimal/medial onion skinning 2021-06-24 01:08:40+00:00 peter owl:Class HP:0003458 biolink:NamedThing EMG: myopathic abnormalities The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. hp0009lx5z Myopathic electromyogram|EMG: myopathy|EMG: myopathic changes HP:0009021|HP:0003711|HP:0003322 UMLS:C4021726 owl:Class HP:0007229 biolink:NamedThing Intracerebral periventricular calcifications The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. hp0009lx5z UMLS:C1837246 human_phenotype owl:Class HP:0005849 biolink:NamedThing Diffuse cerebral calcification Generalized deposition of calcium salts within the brain. hp0009lx5z UMLS:C4025125 human_phenotype owl:Class HP:0031969 biolink:NamedThing Reduced blood urea nitrogen An abnormally low concentration of urea nitrogen in the blood. hp0009lx5z Reduced BUN 2018-07-07 23:28:55+00:00 peter owl:Class HP:0031970 biolink:NamedThing Abnormal blood urea nitrogen concentration Any deviation from the normal concentration of urea nitrogen in the blood. hp0009lx5z Abnormal BUN concentration 2018-07-07 23:29:10+00:00 peter owl:Class HP:0011523 biolink:NamedThing Iris cyst An iris cyst is composed of a single cell layer of epithelium and is filled with fluid. hp0009lx5z peter 2012-04-06T09:05:29Z UMLS:C0271119|SNOMEDCT_US:37761009 human_phenotype owl:Class HP:0012450 biolink:NamedThing Chronic constipation Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. hp0009lx5z Chronic constipation|Infrequent bowel movements peter 2013-11-23T04:03:43Z UMLS:C0401149|SNOMEDCT_US:236069009 human_phenotype owl:Class HP:0410139 biolink:NamedThing Exercise induced anaphylaxis Anaphylaxis after physical activity. hp0009lx5z 2018-03-02 20:22:59+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0032879 biolink:NamedThing Focal impaired awareness seizure with dissociation at onset A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure. hp0009lx5z peter owl:Class HP:0008242 biolink:NamedThing Pseudohypoaldosteronism A state of renal tubular unresponsiveness or resistance to the action of aldosterone. hp0009lx5z Pseudohypoaldosteronism is characterized by hyperkalemia, metabolic acidosis, and normal glomerular filtration rate. This term refers to the phenotypic finding of pseudohypoaldosteronism rather than the disease of idiopathic pseudohypoaldosteronism. HP:0008228 MSH:D011546|UMLS:C0033805|SNOMEDCT_US:77098009 human_phenotype owl:Class HP:0007835 biolink:NamedThing S-shaped palpebral fissures hp0009lx5z S-shaped opening between the eyelids|S-shaped eyes UMLS:C4024787 human_phenotype owl:Class HP:0030043 biolink:NamedThing Hip subluxation A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. hp0009lx5z Subluxation involving the hip joint|Partial hip dislocation UMLS:C0434785|SNOMEDCT_US:263057000 owl:Class HP:0030575 biolink:NamedThing Pinhole visual acuity 0.7 LogMAR hp0009lx5z UMLS:C4073048 owl:Class HP:0025643 biolink:NamedThing Tarlov cyst A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine. hp0009lx5z Perineural cyst 2019-07-24 09:26:34+00:00 HPO:probinson owl:Class HP:0032706 biolink:NamedThing Focal aware cognitive seizure with left-right confusion A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0033833 biolink:NamedThing Elevated circulating soluble CD25 concentration Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response. hp0009lx5z Elevated circulating interleukin-2 receptor alpha-chain 2021-05-16 15:23:19+00:00 peter owl:Class HP:0001670 biolink:NamedThing Asymmetric septal hypertrophy Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. hp0009lx5z UMLS:C0205700 human_phenotype owl:Class HP:0012717 biolink:NamedThing Severe conductive hearing impairment A severe form of conductive hearing impairment. hp0009lx5z Conductive hearing loss, severe Conductive hearing impairment with 21-40 dB deficit. peter 2014-03-23T12:40:51Z UMLS:C4021074 human_phenotype owl:Class HP:0031944 biolink:NamedThing Pleural thickening An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. hp0009lx5z Pleural incrassation 2018-07-05 14:02:51+00:00 peter owl:Class HP:0000707 biolink:NamedThing Abnormality of the nervous system An abnormality of the nervous system. hp0009lx5z Brain and/or spinal cord issue|Neurological abnormality|Abnormality of the nervous system|Neurologic abnormalities The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. HP:0001333|HP:0006987 SNOMEDCT_US:88425004|MSH:D009421|UMLS:C0497552 owl:Class HP:0003233 biolink:NamedThing Decreased HDL cholesterol concentration An decreased concentration of high-density lipoprotein cholesterol in the blood. hp0009lx5z Decreased circulating high-density lipoprotein cholesterol|Decreased circulating high-density lipoprotein levels|Low HDL-cholesterol|Hypoalphalipoproteinemia|Decreased HDL cholesterol SNOMEDCT_US:190785000|MSH:D052456|UMLS:C0473527|UMLS:C0151691 human_phenotype owl:Class HP:0009167 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger. hp0009lx5z Irregular end part of the outermost bone of little finger|Irregular end part of the outermost bone of pinkie finger|Irregular end part of the outermost bone of pinky finger peter 2008-12-29T02:18:06Z UMLS:C4024561 human_phenotype owl:Class HP:0100030 biolink:NamedThing Accessory ectopic thyroid tissue Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. hp0009lx5z While the accessory thyroid tissue may be functional, it is generally insufficient for normal function if the main thyroid gland is entirely removed. doelkens 2010-06-10T10:25:46Z UMLS:C4022385 human_phenotype owl:Class HP:0100028 biolink:NamedThing Ectopic thyroid Mislocalised thyroid gland. hp0009lx5z Abnormal thryoid location|Aberrant thyroid|Ectopic thyroid gland|Heteropic thyroid gland|Aberrant thyroid gland An aberrant or ectopic thyroid gland may occur anywhere along the path of initial descent of the thyroid. A total failure to descend contrasts with the incomplete descent of the thyroid, in which case the resulting final resting point of the gland may be high in the neck or just below the hyoid bone. Appart from an abnormal descent, accessory thyroid tissue can also occur, arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. doelkens 2010-06-10T10:16:37Z UMLS:C0266283|MSH:D050033|SNOMEDCT_US:214660000 human_phenotype owl:Class HP:0410288 biolink:NamedThing Hyperamylasemia Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. hp0009lx5z Increased circulating amylase level 2019-01-28 20:07:47+00:00 owl:Class HP:0040278 biolink:NamedThing Prolactinoma A benign tumor (adenoma) of the pituitary gland hp0009lx5z Associated with increased prolactin in the blood (hyperprolactinemia) owl:Class HP:0004052 biolink:NamedThing Delayed ossification of the hand bones Ossification of hand bones is less advanced than would be expected according to age-adjusted norms. hp0009lx5z Delayed maturation of the hand bones|Delay maturation/delayed ossification of the hand UMLS:C4021686|UMLS:C4020833 human_phenotype owl:Class HP:0010727 biolink:NamedThing Spontaneous rupture of the globe Rupture of the eyeball not due to trauma. hp0009lx5z sdoelken 2010-04-20T11:05:28Z UMLS:C4023719 human_phenotype owl:Class HP:0000667 biolink:NamedThing Phthisis bulbi Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. hp0009lx5z Phthisis bulbi refers to atrophy and degeneration of a blind eye. UMLS:C0271007|SNOMEDCT_US:4229009 human_phenotype owl:Class HP:0500031 biolink:NamedThing Sclerosis of the carpal bones An elevation in bone density in one or more carpal bones of the hand. hp0009lx5z 2017-06-01 16:54:00+00:00 ORCID:0000-0003-0169-8159 ORCID:0000-0001-7941-2961 owl:Class HP:0031278 biolink:NamedThing Abnormal thoracic duct morphology Any structural anomaly of the thoracic duct. hp0009lx5z 2017-08-13 16:33:27+00:00 peter owl:Class HP:0003964 biolink:NamedThing Osteoporotic forearm bones hp0009lx5z UMLS:C4025475 human_phenotype owl:Class HP:0003461 biolink:NamedThing Increased urinary O-linked sialopeptides Excretion of peptides conjugated to sialic acid in the urine. hp0009lx5z UMLS:C1836533 human_phenotype owl:Class HP:0025522 biolink:NamedThing Elongated chordae tendinae of the mitral valve Abnormal increased in length of the chordae tendinae of the mitral valve. hp0009lx5z 2017-05-17 23:42:26+00:00 HPO:probinson owl:Class HP:0004279 biolink:NamedThing Short palm Short palm. hp0009lx5z Short hands|Short palm|Short palms|Hypoplastic hands This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. "Short hand" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short. HP:0001165 UMLS:C1843108 human_phenotype owl:Class HP:0030495 biolink:NamedThing Abnormality morphology of the macular vasculature Any structural anomaly of the blood vessels of the macula. hp0009lx5z Abnormality of macular vasculature UMLS:C4072983 owl:Class HP:0004902 biolink:NamedThing Congenital lactic acidosis A form of lactic acidemia with congenital onset. hp0009lx5z UMLS:C4025276 human_phenotype owl:Class HP:0033805 biolink:NamedThing Non-necrotizing granuloma A granuloma which is not associated with necrotic changes. hp0009lx5z 2021-05-08 15:11:03+00:00 peter owl:Class HP:0032252 biolink:NamedThing Granuloma A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. hp0009lx5z 2019-01-27 16:44:42+00:00 Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodelling occurs. peter owl:Class HP:0002043 biolink:NamedThing Esophageal stricture A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. hp0009lx5z Narrowing of esophagus due to inflammation and scar tissue|Narrowing of oesophagus due to inflammation and scar tissue Gastroesophageal reflux is a common cause of esophageal stricture. UMLS:C0014866|MSH:D004940|SNOMEDCT_US:63305008 human_phenotype owl:Class HP:0006779 biolink:NamedThing Alveolar rhabdomyosarcoma hp0009lx5z MSH:D018232|UMLS:C0206655|SNOMEDCT_US:63449009|SNOMEDCT_US:404053004|NCIT:C3749 human_phenotype owl:Class HP:0033820 biolink:NamedThing Apical Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung. hp0009lx5z 2021-05-09 12:20:29+00:00 peter owl:Class HP:0032395 biolink:NamedThing Curvilinear subcortical heterotopia Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia. hp0009lx5z Giant heterotopia 2019-02-24 16:08:36+00:00 peter owl:Class HP:0004535 biolink:NamedThing Anterior cervical hypertrichosis Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. hp0009lx5z Hypertrichosis, congenital anterior cervical|Congenital cervical hypertrichosis HP:0004517|HP:0004773 UMLS:C1838123|MSH:C538390 human_phenotype owl:Class HP:0032465 biolink:NamedThing Bladder trabeculation Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface. hp0009lx5z Trabecular bladder 2019-04-04 09:28:51+00:00 Bladder trabeculation is caused by morphological and histological changes due to hypertrophy and hyperplasia of the bladder muscle and the infiltration of the connective tissue. peter owl:Class HP:0033903 biolink:NamedThing Arcuate artery endoarterial hypercellularity Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. hp0009lx5z Endoarterial hypercellularity within arcuate artery 2021-06-23 22:37:34+00:00 peter owl:Class HP:0010600 biolink:NamedThing Abnormality of the distal ulnar epiphysis Any abnormality of the distal epiphysis of the ulna. hp0009lx5z sandra1 2009-10-22T06:41:21Z UMLS:C4023773 human_phenotype owl:Class HP:0100188 biolink:NamedThing Small epiphysis of the middle phalanx of the 4th toe hp0009lx5z Small end part of middle long bone of 4th toe doelkens 2010-06-24T04:54:13Z UMLS:C4022233 human_phenotype owl:Class HP:0011266 biolink:NamedThing Microtia, first degree Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. hp0009lx5z First-degree microtia peter 2011-12-18T07:44:51Z HP:0000379 UMLS:C4021175 human_phenotype owl:Class HP:0005857 biolink:NamedThing Cervical spina bifida hp0009lx5z UMLS:C0266501|SNOMEDCT_US:32232003 human_phenotype owl:Class HP:0025136 biolink:NamedThing Increased serum estriol An elevation above normal limits of estriol concentration in the circulation. hp0009lx5z 2016-11-27 14:13:00+00:00 HPO:probinson owl:Class HP:0000678 biolink:NamedThing Dental crowding Changes in alignment of teeth in the dental arch hp0009lx5z Tooth mass arch size discrepancy|Dental overcrowding|Overcrowding of teeth|Tooth size discrepancy|Crowded teeth|Dental crowding|Inadequate arch length for tooth size Overlapping teeth within an alveolar ridge. UMLS:C4280617|MSH:D008310|UMLS:C1317785|SNOMEDCT_US:12351004|UMLS:C0040433|SNOMEDCT_US:699222000|UMLS:C4280618 owl:Class HP:0033229 biolink:NamedThing Brachioradialis areflexia Inability to elicit brachioradialis tendon reflex. hp0009lx5z Areflexia of brachioradialis 2020-10-30 11:16:48+00:00 peter owl:Class HP:0010564 biolink:NamedThing Bifid epiglottis A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. hp0009lx5z sandra1 2009-10-16T02:20:48Z UMLS:C0339864|SNOMEDCT_US:232412004 human_phenotype owl:Class HP:0030904 biolink:NamedThing Glabellar reflex A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign. hp0009lx5z Myerson's sign owl:Class HP:0012721 biolink:NamedThing Venous malformation A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. hp0009lx5z Venous malformations Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk. peter 2014-03-23T01:20:33Z SNOMEDCT_US:297222002|UMLS:C2937220 human_phenotype owl:Class HP:0033560 biolink:NamedThing Anti-PM-Scl antibody positivity Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40. hp0009lx5z 2021-01-23 12:21:25+00:00 Anti-PM-Scl antibodies are found in up to 50% of polymyositis/systemic sclerosis (PM/SSc) overlap syndrome. Around 80% of individuals with antibodies present in their blood serum will have the disorder. The presence of the antibodies is linked to limited cutaneous involvement of PM/SSc overlap syndrome. peter owl:Class HP:0033773 biolink:NamedThing Decreased RV/TLC ratio An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. hp0009lx5z 2021-05-01 15:44:00+00:00 peter owl:Class HP:0009404 biolink:NamedThing Broad phalanges of the 4th finger Increased width of the phalanges of the 4th finger. hp0009lx5z Broad bones of ring finger doelkens 2009-01-13T02:37:29Z UMLS:C4024387 human_phenotype owl:Class HP:0009946 biolink:NamedThing Polydactyly affecting the 2nd finger hp0009lx5z Extra index finger doelkens 2009-05-15T01:01:48Z UMLS:C4024152 human_phenotype owl:Class HP:0012597 biolink:NamedThing Heavy proteinuria Severely increased levels of protein in the urine (1000-3000 mg per day in adults). hp0009lx5z Severly high blood protein levels peter 2014-01-16T05:56:38Z UMLS:C4022830 human_phenotype owl:Class HP:0030863 biolink:NamedThing Nasal flaring Widening of the nostrils upon inhalation as a manifestation of respiratory distress. hp0009lx5z Nasal flaring is a compensatory symptom that increases upper airway diameter and reduces resistance and work of breathing. SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873 owl:Class HP:0007277 biolink:NamedThing Paucity of anterior horn motor neurons hp0009lx5z UMLS:C2673351 human_phenotype owl:Class HP:0032705 biolink:NamedThing Focal aware cognitive seizure with forced thinking A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0032037 biolink:NamedThing Mildly reduced visual acuity Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation). hp0009lx5z Mild vision loss|Mild reduction in visual acuity|Mild visual loss 2018-09-01 15:45:56+00:00 A visual acuity of 6/6 signifies that a person can see symbols such as those on a Snellen chart from six meters the same as a person with normal eyesight. A visual acuity of 6/12 signifies that the person can see symbols at 6 meters the same as a person with normal eyesight could at 12 meters. peter owl:Class HP:0040146 biolink:NamedThing D-2-hydroxyglutaric acidemia hp0009lx5z HPO:skoehler UMLS:C4022415 owl:Class HP:0008066 biolink:NamedThing Abnormal blistering of the skin The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. hp0009lx5z Blistering, generalized|Skin bullae|Blistering, generalised|Abnormal blistering of the skin|Blister|Blisters|Skin blisters A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. In approaching blistering diseases, there are 3 fundamental criteria to consider: (1) the site or level of the blister (or the lowest level of vesiculation): subcorneal, midepidermis, suprabasal, subepidermal; (2) the findings that implicate the mechanism of blister formation (spongiosis, acantholysis, blistering degeneration, or epidermolysis); and (3) the type of inflammation (neutrophilic, lymphocytic, eosinophilic, mixed), if present. peter 2008-04-02T03:54:00Z HP:0200038|HP:0007496|HP:0007467 UMLS:C0241054|UMLS:C2220104|UMLS:C2132198 owl:Class HP:0033286 biolink:NamedThing Thickened glomerular basement membranes with electron dense deposits hp0009lx5z 2020-11-28 21:12:16+00:00 peter owl:Class HP:0002215 biolink:NamedThing Sparse axillary hair Reduced number or density of axillary hair. hp0009lx5z Sparse axillary and pubic hair|sparse to absent axillary hair|Sparse scalp, axillary, and pubic hair|Limited armpit hair|Little underarm hair HP:0004518|HP:0004514|HP:0004545 UMLS:C1858574 human_phenotype owl:Class HP:0030470 biolink:NamedThing Abnormal dark-adapted bright flash electroretinogram hp0009lx5z UMLS:C4072960 owl:Class HP:0030220 biolink:NamedThing Socially inappropriate behavior Behavior that is not in line with social norms. hp0009lx5z Socially inappropriate behavior|Socially inappropriate behaviour UMLS:C2220010 owl:Class HP:0012512 biolink:NamedThing Diffuse optic disc pallor A pale yellow discoloration of the entire optic disc. hp0009lx5z Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. peter 2013-12-08T09:02:25Z UMLS:C4022870 human_phenotype owl:Class HP:0025046 biolink:NamedThing Reduced brain lactate level by MRS A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z Reduced brain lactate level by magnetic resonance spectroscopy 2016-09-25 16:45:22+00:00 HPO:probinson owl:Class HP:5000031 biolink:NamedThing Anti-Septin-5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5. hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0011075 biolink:NamedThing Green teeth A green staining of teeth. hp0009lx5z Green colored teeth|Green coloured teeth|Green teeth|Green tooth shade Green teeth are a rare finding in children with neonatal hyperbilirubinaemia due to blood group incompatibility, sepsis-induced cholestasis or biliary atresia. Rarely, green staining of the teeth may be seen with cholestasis and sepsis. peter 2011-03-10T05:23:18Z UMLS:C4023549 human_phenotype owl:Class HP:0410267 biolink:NamedThing Intestinal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel. hp0009lx5z Intestinal hemangioma|Bowel hemangioma 2018-10-30 01:56:39+00:00 owl:Class HP:0006593 biolink:NamedThing Anomalous rib insertion to vertebrae hp0009lx5z UMLS:C1861704 human_phenotype owl:Class HP:0032081 biolink:NamedThing Intralamellar mucoid extracellular matrix accumulation A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units. hp0009lx5z 2018-10-14 14:53:06+00:00 peter owl:Class HP:0009436 biolink:NamedThing Triangular shaped middle phalanx of the 3rd finger Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped middle bone of the middle finger doelkens 2009-01-14T03:41:31Z UMLS:C4024362 human_phenotype owl:Class HP:0410021 biolink:NamedThing Musty odor Pungent body odor. hp0009lx5z Musty odour|Musty odor owl:Class HP:0030935 biolink:NamedThing Abnormality of intestinal smooth muscle morphology A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine. hp0009lx5z 2016-12-02 15:17:33+00:00 robinp owl:Class HP:0012129 biolink:NamedThing Abnormality of bone marrow stromal cells hp0009lx5z peter 2012-09-16T07:13:26Z UMLS:C4023034 human_phenotype owl:Class HP:0012794 biolink:NamedThing Periventricular white matter hypodensities Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. hp0009lx5z Periventricular cerebral white matter hypodensities See also defintion for "Deep white matter hypodensities". These two entities are in contra-distinction to each other. peter 2014-04-25T03:00:01Z UMLS:C4022720 human_phenotype owl:Class HP:0041197 biolink:NamedThing Fractured proximal epiphysis of first metacarpal bone A partial or complete breakage of the proximal epiphysis of first metacarpal bone. hp0009lx5z bone proximal epiphysis of first metacarpal bone owl:Class HP:0006321 biolink:NamedThing Multiple non-erupting secondary teeth hp0009lx5z Failure of eruption of multiple adult teeth|Failure of eruption of multiple permanent teeth|Multiple unerupted adult teeth|Multiple unerupted permanent teeth|Multiple non-erupting permanent teeth|Multiple non-erupting adult teeth UMLS:C1848904 human_phenotype owl:Class HP:0040191 biolink:NamedThing Rectus femoris muscle atrophy hp0009lx5z Atrophy of the rectus femoris muscles HPO:skoehler UMLS:C2083352 owl:Class HP:0003459 biolink:NamedThing Polyclonal elevation of IgM A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. hp0009lx5z UMLS:C4025612 human_phenotype owl:Class HP:0011718 biolink:NamedThing Abnormality of the pulmonary veins An abnormality of the pulmonary veins. hp0009lx5z Abnormality of lung veins The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium. peter 2012-04-11T08:45:48Z SNOMEDCT_US:128585006|SNOMEDCT_US:199113001|SNOMEDCT_US:111322000|UMLS:C0265914 owl:Class HP:0005432 biolink:NamedThing Transient hypogammaglobulinemia of infancy At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia. hp0009lx5z Newborn gammaglobulin deficiency SNOMEDCT_US:88714009|UMLS:C0272238|UMLS:C4020822 human_phenotype owl:Class HP:0000182 biolink:NamedThing Movement abnormality of the tongue hp0009lx5z Abnormality of lingual movement|Movement abnormality of the tongue UMLS:C4025882 human_phenotype owl:Class HP:0032063 biolink:NamedThing Ankle joint effusion Abnormal accumulation of fluid in or around the ankle joint. hp0009lx5z 2018-09-16 12:08:37+00:00 peter owl:Class HP:0010543 biolink:NamedThing Opsoclonus Bursts of large-amplitude multidirectional saccades without intersaccadic interval hp0009lx5z Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude. peter 2009-09-23T10:40:51Z MSH:D015835|UMLS:C0242567|SNOMEDCT_US:194177006 human_phenotype owl:Class HP:0410270 biolink:NamedThing Esophageal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus. hp0009lx5z 2018-10-30 02:10:29+00:00 owl:Class HP:0012753 biolink:NamedThing T2 hypointense basal ganglia A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia. hp0009lx5z peter 2014-03-30T06:52:42Z UMLS:C4022743 human_phenotype owl:Class HP:0012356 biolink:NamedThing Decreased mannosylation of N-linked protein glycosylation Reduced addition of mannose to N-linked glycans. hp0009lx5z peter 2013-09-15T10:24:56Z UMLS:C4022935 human_phenotype owl:Class HP:0012355 biolink:NamedThing Abnormal mannosylation of N-linked protein glycosylation An anomaly of the addition of mannose to N-linked glycans. hp0009lx5z peter 2013-09-15T10:23:53Z UMLS:C4022936 human_phenotype owl:Class HP:0040111 biolink:NamedThing Bilateral external ear deformity hp0009lx5z HPO:skoehler UMLS:C4022432 owl:Class HP:0007335 biolink:NamedThing Recurrent encephalopathy Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. hp0009lx5z Recurrent cerebellar and extrapyramidal encephalopathy HP:0006947 UMLS:C1850719 human_phenotype owl:Class HP:0100189 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe. hp0009lx5z Speckled calcifications in the end part of the middle bone of the 4th toe doelkens 2010-06-24T04:54:13Z UMLS:C4022232 human_phenotype owl:Class HP:0033041 biolink:NamedThing Cytokine storm Excessive or uncontrolled release of proinflammatory cytokines. hp0009lx5z Hypercytokinemia Cytokines are a diverse group of small proteins that are secreted by cells for the purpose of intercellular signaling and communication. Specific cytokines have autocrine, paracrine, and/or endocrine activity and, through receptor binding, can elicit a variety of responses, depending upon the cytokine and the target cell. Among the many functions of cytokines are the control of cell proliferation and differentiation and the regulation of angiogenesis and immune and inflammatory responses. Inflammation associated with a cytokine storm begins at a local site and spreads throughout the body via the systemic circulation. Rubor (redness), tumor (swelling or edema), calor (heat), dolor (pain), and functio laesa (loss of function) are the hallmarks of acute inflammation. While the general concept of an excessive or uncontrolled release of proinflammatory cytokines is well known, a precise definition of what constitutes a cytokine storm is lacking. The first use of cytokine storm appears to be in an article published in 1993 on graft-versus-host disease. Cytokine storm has subsequently been described in patients infected by cytomegalovirus, Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis, group A streptococcus, influenza virus, variola virus, severe acute respiratory syndrome coronavirus (SARS-CoV),avian H5N1 influenza virus, and SARS-CoV-2 peter owl:Class HP:0033596 biolink:NamedThing Elevated urinary 3-methylcrotonylglycine level An abnormally increased amount of 3-methylcrotonylglycine in the urine. hp0009lx5z 2021-01-30 13:24:46+00:00 peter owl:Class HP:0030857 biolink:NamedThing Eye movement-induced pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. hp0009lx5z UMLS:C4280742 owl:Class HP:0007559 biolink:NamedThing Localized epidermolytic hyperkeratosis hp0009lx5z Localised epidermolytic hyperkeratosis MSH:D053546|UMLS:C1721006 human_phenotype owl:Class HP:0010763 biolink:NamedThing Low insertion of columella Insertion of the posterior columella below the nasal base. hp0009lx5z Columella, low insertion|Ala higher than columella This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. peter 2010-04-24T12:12:25Z UMLS:C4021229|UMLS:C4280364 human_phenotype owl:Class HP:0011118 biolink:NamedThing Abnormality of tumor necrosis factor secretion An abnormality in the production or cellular release of tumor necrosis factor. hp0009lx5z Abnormality of tumour necrosis factor secretion|Abnormality of cachexin secretion|Abnormality of cachectin secretion peter 2011-06-12T09:16:58Z UMLS:C4023529|MP:0008556 human_phenotype owl:Class HP:0009331 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 3rd finger A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. hp0009lx5z Delta-shaped epiphysis of the middle phalanx of the 3rd finger|Triangular end part of the middle bone of the middle finger doelkens 2009-01-12T11:15:44Z UMLS:C4021490 human_phenotype owl:Class HP:0011623 biolink:NamedThing Muscular ventricular septal defect The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. hp0009lx5z Ventricular septal defect, muscular|Type 4 ventricular septal defect peter 2012-04-08T09:43:15Z Fyler:1320|UMLS:C0685707|SNOMEDCT_US:94706008 human_phenotype owl:Class HP:0033643 biolink:NamedThing Increased circulating very long-chain fatty acid concentration Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons. hp0009lx5z Increased plasma levels of very long-chain fatty acid 2021-02-24 12:39:07+00:00 peter owl:Class HP:0009323 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 3rd finger A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. hp0009lx5z Cone-shaped end part of the middle bone of the middle finger doelkens 2009-01-12T11:15:44Z UMLS:C4024442 human_phenotype owl:Class HP:0030806 biolink:NamedThing Fast-growing nails Nails whose growth is quicker than normal. hp0009lx5z UMLS:C4280757 owl:Class HP:0500113 biolink:NamedThing Positive urine opioid test Detection of opioids or opioid metabolites in urine. hp0009lx5z 2018-06-25 17:20:19+00:00 Opiates are the natural or synthetic drugs that have a morphine-like pharmacological action. Medically, opiates are used primarily for relief of pain. Opiates include morphine and drugs structurally similar to morphine (eg, codeine, hydrocodone, hydromorphone, oxycodone). owl:Class HP:0002637 biolink:NamedThing Cerebral ischemia hp0009lx5z Brain ischemia|Disruption of blood oxygen supply to brain|Cerebrovascular ischemia SNOMEDCT_US:287731003|UMLS:C0917798|UMLS:C0007786|SNOMEDCT_US:389100007|MSH:D002545 owl:Class HP:0008718 biolink:NamedThing Unilateral renal dysplasia A unilateral form of developmental dysplasia of the kidney. hp0009lx5z SNOMEDCT_US:204951002|UMLS:C0431697 human_phenotype owl:Class HP:0000110 biolink:NamedThing Renal dysplasia The presence of developmental dysplasia of the kidney. hp0009lx5z Renal adysplasia|Dysplastic kidneys HP:0004721|HP:0000116 MSH:C563261|UMLS:C1619700|SNOMEDCT_US:204949001|UMLS:C3536714 human_phenotype owl:Class HP:0002273 biolink:NamedThing Tetraparesis Weakness of all four limbs. hp0009lx5z Quadriparesis Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. HP:0002338 SNOMEDCT_US:91327001|MSH:D011782|UMLS:C0270790 owl:Class HP:0008689 biolink:NamedThing Bilateral cryptorchidism Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. hp0009lx5z Cryptorchidism, bilateral HP:0008686 UMLS:C0431663|SNOMEDCT_US:268228006|MSH:D003456 human_phenotype owl:Class HP:0000028 biolink:NamedThing Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. hp0009lx5z Cryptorchism|Undescended testes|Undescended testis The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. HP:0000797 UMLS:C0010417|Fyler:4493|SNOMEDCT_US:204878001|MSH:D003456 human_phenotype owl:Class HP:0012607 biolink:NamedThing Abnormal urine magnesium concentration An abnormal concentration of magnesium the urine. hp0009lx5z Abnormal urine magnesium concentration peter 2014-01-17T11:37:50Z UMLS:C4022823 owl:Class HP:0033449 biolink:NamedThing Decreased mid-arm muscle circumference Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. hp0009lx5z 2021-01-09 20:38:55+00:00 peter owl:Class HP:0031118 biolink:NamedThing Single raphe bicuspid aortic valve A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size. hp0009lx5z 2017-06-10 11:46:00+00:00 peter owl:Class HP:0005943 biolink:NamedThing Respiratory arrest hp0009lx5z Breathing cessation UMLS:C0162297|SNOMEDCT_US:87317003 human_phenotype owl:Class HP:0011555 biolink:NamedThing Double inlet left ventricle The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. hp0009lx5z peter 2012-04-07T11:53:33Z EPCC:01.04.04|UMLS:C0344622|SNOMEDCT_US:253283000|ICD-10:Q20.4 human_phenotype owl:Class HP:0011554 biolink:NamedThing Double inlet atrioventricular connection The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. hp0009lx5z Double inlet atrioventricular connexion peter 2012-04-07T11:49:32Z EPCC:01.01.14|UMLS:C4023302|ICD-10:Q20.4 human_phenotype owl:Class HP:0002611 biolink:NamedThing Cholestatic liver disease hp0009lx5z UMLS:C0860204 human_phenotype owl:Class HP:0100809 biolink:NamedThing Scalp tenderness Pain or discomfort of the scalp elicited by palpation. hp0009lx5z Scalp hypersensitivity|Allodynia of scalp|Scalp tenderness|Scalp pain doelkens 2011-06-09T01:46:12Z SNOMEDCT_US:75851004|UMLS:C0240940|MEDDRA:10039521|UMLS:C4073183|UMLS:C0151206 human_phenotype owl:Class HP:0012231 biolink:NamedThing Exudative retinal detachment A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. hp0009lx5z Serous retinal detachment peter 2013-03-31T09:24:20Z UMLS:C0154822|SNOMEDCT_US:38599001 human_phenotype owl:Class HP:0008207 biolink:NamedThing Primary adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. hp0009lx5z Adrenocortical insufficiency|Primary adrenocortical failure|Addison's disease|Addison disease Deficiency of both glucocorticoids and mineralocorticoids. HP:0008252|HP:0008219|HP:0000862 SNOMEDCT_US:363732003|SNOMEDCT_US:386584007|SNOMEDCT_US:373662000|MSH:D000224|UMLS:C0405580|UMLS:C0001403 human_phenotype owl:Class HP:0031909 biolink:NamedThing Unicornuate uterus A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn. hp0009lx5z 2018-06-23 13:42:08+00:00 A unicornuate uterus with a rudimentary horn is an anomaly caused by defective fusion of one of the paired Mullerian ducts. The incidence of rudimentary-horn pregnancy is estimated to be one in 76,000 pregnancies. Life-threateningly heavy bleeding and abortion are the anticipated outcomes of rudimentary horn pregnancies. According to the literature, the newborn survival rate is between 0-13 percent in pregnancies in the rudimentary horn, with only one third of such gestations reaching term or beyond. Slightly more than half of the pregnancies ended with a rupture of the pregnant uterine horn. peter owl:Class HP:0000728 biolink:NamedThing Impaired ability to form peer relationships hp0009lx5z UMLS:C1837649 human_phenotype owl:Class HP:0045048 biolink:NamedThing Increased HbA2 hemoglobin An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. hp0009lx5z Increased HbA2 haemoglobin|Increased hemoglobin A2|Increased haemoglobin A2 UMLS:C4073172 owl:Class HP:0410396 biolink:NamedThing Increased proportion of central memory CD8-positive, alpha-beta T cells An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z owl:Class HP:0033135 biolink:NamedThing Hepatic infarction Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography. hp0009lx5z 2020-09-09 13:23:04+00:00 Hepatic infarction is infrequent due to the dual blood supply of the liver and the compensatory relationship between the hepatic artery and portal vein. peter owl:Class HP:0002268 biolink:NamedThing Paroxysmal dystonia A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. hp0009lx5z Episodic dystonia HP:0002412 UMLS:C0393588|MSH:D004421|SNOMEDCT_US:230310003 human_phenotype owl:Class HP:0031932 biolink:NamedThing Aorto-left ventricular tunnel Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity. hp0009lx5z Left ventricle to aorta tunnel 2018-07-04 20:38:35+00:00 ALVT is extremely rare with incidence as low as 0.001% of all congenital heart diseases. Most of the patients develop symptoms of heart failure during the first year of life. The onset, severity and progression of heart failure vary and ranges from in-utero fetal death to asymptomatic adulthood. peter owl:Class HP:0011627 biolink:NamedThing Aorto-ventricular tunnel Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle. hp0009lx5z peter 2012-04-09T08:29:49Z UMLS:C4023262 human_phenotype owl:Class HP:0025308 biolink:NamedThing Acute emergence over days Acute appearance of disease manifestations in a period of days. hp0009lx5z 2016-12-21 01:01:46+00:00 HPO:probinson owl:Class HP:0012412 biolink:NamedThing Premature adrenarche Onset of adrenarche at an earlier age than usual. hp0009lx5z Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS). peter 2013-11-10T11:58:02Z UMLS:C0342546|SNOMEDCT_US:103021001 human_phenotype owl:Class HP:0100000 biolink:NamedThing Early onset of sexual maturation An early onset of puberty, in this case early does not refer to precocious. hp0009lx5z Early onset of sexual maturation doelkens 2010-05-04T10:35:02Z UMLS:C4022392 human_phenotype owl:Class HP:0031978 biolink:NamedThing Increased vertical cup-to-disc ratio - 1.0 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). hp0009lx5z 2018-07-08 00:15:23+00:00 peter owl:Class HP:0032422 biolink:NamedThing Abnormal HDL2b concentration Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm. hp0009lx5z 2019-03-02 13:45:07+00:00 peter owl:Class HP:0012398 biolink:NamedThing Peripheral edema An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. hp0009lx5z Peripheral oedema peter 2013-11-08T08:09:45Z SNOMEDCT_US:82014009|SNOMEDCT_US:271809000|UMLS:C0085649 human_phenotype owl:Class HP:0004757 biolink:NamedThing Paroxysmal atrial fibrillation Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. hp0009lx5z Atrial fibrillation, paroxysmal UMLS:C0235480|SNOMEDCT_US:282825002|MSH:D001281 human_phenotype owl:Class HP:0032212 biolink:NamedThing Increased urinary squamous epithelial cell count An increased number of squamous epithelial cells per high-power field in urinanalysis. hp0009lx5z 2019-01-20 21:04:12+00:00 Squamous epithelial cells may indicate contamination of the urine sample and are a poor predictor of urine culture contamination, peter owl:Class HP:0200067 biolink:NamedThing Recurrent spontaneous abortion Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. hp0009lx5z Spontaneous abortion, recurrent sebastiankohler 2013-05-31T01:33:01Z UMLS:C3279439 human_phenotype owl:Class HP:0005268 biolink:NamedThing Spontaneous abortion A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. hp0009lx5z Miscarriage SNOMEDCT_US:17369002|UMLS:C0000786|MSH:D000022 human_phenotype owl:Class HP:0033207 biolink:NamedThing Increased proportion autoreactive unresponsive CD21-/low B cells Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures. hp0009lx5z 2020-10-12 11:13:28+00:00 Complement receptor type 2 (CR2, CD21) is a 145-kD glycosylated single polypeptide chain consisting of a long extracellular domain of 15 to 16 short consensus repeat sequences, a transmembrane region, and a short cytoplasmic domain. The receptor is expressed on B cells, follicular dendritic cells, thymocytes and a subset of peripheral T cells. CD21 binds complement fragments C3d, C3dg and iC3b that are covalently bound to target antigens. On B cells, CD21 forms a complex together with CD19 and CD81, which functions as a coreceptor to the BCR. Upon simultaneous binding of complement-tagged antigens by CD21 and the BCR the threshold for B cell activation is reduced. Under these circumstances, CD21 acts as a bridge between the coreceptor complex and the BCR. Because CD21 augments B-cell receptor (BCR)-mediated signaling as part of the B-cell coreceptor complex, its downregulation may confer a state of anergy to these cells, as has been demonstrated among CD21-/low B cells in patients with rheumatoid arthritis, common variable immunodeficiency or hepatitis C associated cryoglobulinemia patients. These CD21-/low B cells are enriched in autoreactive clones that are unresponsive to BCR stimulation. peter owl:Class HP:0011640 biolink:NamedThing Single coronary artery origin The presence of a single coronary artery ostium from which both coronary arteries arise. hp0009lx5z peter 2012-04-09T08:44:38Z UMLS:C4023251 human_phenotype owl:Class HP:0033068 biolink:NamedThing Medication crystalluria A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. hp0009lx5z peter owl:Class HP:0100151 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 3rd toe hp0009lx5z Irregular end part of the middle bone of the 3rd toe doelkens 2010-06-24T10:24:13Z UMLS:C4022270 human_phenotype owl:Class HP:0033953 biolink:NamedThing Cortical radial artery endotheliosis Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. hp0009lx5z Endotheliosis within interlobular arteries 2021-06-24 12:24:50+00:00 peter owl:Class HP:0011677 biolink:NamedThing Tetralogy of Fallot with atrioventricular canal defect hp0009lx5z peter 2012-04-10T07:41:53Z UMLS:C4023235 human_phenotype owl:Class HP:0100110 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 2nd toe hp0009lx5z Triangular end part of the outermost bone of the 2nd toe doelkens 2010-06-24T10:04:20Z UMLS:C4022311 human_phenotype owl:Class HP:0004398 biolink:NamedThing Peptic ulcer An ulcer of the gastrointestinal tract. hp0009lx5z Sore in the lining of gastrointestinal tract A peptic ulcer is defined as an erosion of the mucosa of the gastrointestinal tract, and can occur as esophageal ulcer, gastric ulcer, duodenal ulcer, and Meckel's Diverticulum ulcer. peter 2008-03-18T09:14:00Z MSH:D010437|SNOMEDCT_US:13200003|UMLS:C0030920 human_phenotype owl:Class HP:0008115 biolink:NamedThing Clinodactyly of the 3rd toe Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe). hp0009lx5z 3rd toe clinodactyly|Curvature of 3rd toe UMLS:C4021555|UMLS:C4280416 human_phenotype owl:Class HP:4000043 biolink:NamedThing Greenstick fracture A type of fracture in which the broken bone is not completely separated. hp0009lx5z Incomplete fracture 2021-05-02 20:49:30+00:00 robinp owl:Class HP:0032914 biolink:NamedThing Focal aware perseverative automatism seizure A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0011925 biolink:NamedThing Decreased activity of mitochondrial ATP synthase complex A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. hp0009lx5z Respiratory complex deficiency, ATPase deficiency peter 2012-06-08T09:08:42Z UMLS:C4020737|UMLS:C4023125 human_phenotype owl:Class HP:0004960 biolink:NamedThing Absent pulmonary artery A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. hp0009lx5z Missing pulmonary artery|Absent lung artery This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP. SNOMEDCT_US:86252004|UMLS:C0265905 human_phenotype owl:Class HP:0007667 biolink:NamedThing Peripheral cystoid retinal degeneration Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. hp0009lx5z Peripheral cystoid degeneration|Cystic retinal degeneration UMLS:C1839362 human_phenotype owl:Class HP:0008290 biolink:NamedThing Partial complement factor H deficiency A partial reduction in level of the complement component Factor H in circulation. hp0009lx5z UMLS:C4024708 human_phenotype owl:Class HP:0011968 biolink:NamedThing Feeding difficulties Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. hp0009lx5z Feeding difficulties|Feeding problems|Poor feeding peter 2012-07-18T10:25:05Z SNOMEDCT_US:78164000|UMLS:C0232466 owl:Class HP:0003733 biolink:NamedThing Thigh hypertrophy Muscle hypertrophy affecting the thighs. hp0009lx5z Increased thigh size Proximal lower limb hypertrophy UMLS:C1846674 human_phenotype owl:Class HP:0040006 biolink:NamedThing Mortality/Aging hp0009lx5z HPO:skoehler UMLS:C4022499 owl:Class HP:0031797 biolink:NamedThing Clinical course The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. hp0009lx5z Natural history of disease 2018-02-25 14:55:46+00:00 peter owl:Class HP:0012679 biolink:NamedThing Widened interpedicular distance An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. hp0009lx5z peter 2014-03-22T12:41:17Z UMLS:C4022784 human_phenotype owl:Class HP:0004879 biolink:NamedThing Intermittent hyperventilation Episodic hyperventilation. hp0009lx5z Intermittent overbreathing|Episodic hyperventilation UMLS:C1828017|SNOMEDCT_US:423427003 human_phenotype owl:Class HP:0002883 biolink:NamedThing Hyperventilation Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. hp0009lx5z Rapid breathing UMLS:C0020578|MSH:D006985|SNOMEDCT_US:68978004 owl:Class HP:0007690 biolink:NamedThing Map-dot-fingerprint corneal dystrophy hp0009lx5z UMLS:C0271285|SNOMEDCT_US:32935005 human_phenotype owl:Class HP:0020049 biolink:NamedThing Exodeviation A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. hp0009lx5z Divergent strabismus 2017-12-22 15:01:01+00:00 robinp owl:Class HP:0040204 biolink:NamedThing Elevated CSF neopterin level Increased concentration of neopterin in the cerebrospinal fluid (CSF). hp0009lx5z PhenoTips:CHum UMLS:C4073152 owl:Class HP:0025528 biolink:NamedThing Annular cutaneous lesion A lesion of the skin with a ring-like distribution. hp0009lx5z 2017-05-18 00:14:03+00:00 HPO:probinson owl:Class HP:0100690 biolink:NamedThing Mosaic central corneal dystrophy hp0009lx5z doelkens 2011-02-18T04:52:59Z UMLS:C4021996 human_phenotype owl:Class HP:0011469 biolink:NamedThing Nasal regurgitation Regurgitation of milk through the nose. hp0009lx5z peter 2012-03-25T07:52:19Z SNOMEDCT_US:85023004|UMLS:C0232608 human_phenotype owl:Class HP:0031741 biolink:NamedThing Inferior oblique muscle underaction Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. hp0009lx5z 2018-01-21 14:05:23+00:00 peter owl:Class HP:0011204 biolink:NamedThing EEG with continuous slow activity EEG showing diffuse slowing without interruption. hp0009lx5z hecht 2011-11-19T11:28:47Z UMLS:C4023470 human_phenotype owl:Class HP:0002519 biolink:NamedThing Hypnagogic hallucinations Fleeting perceptual experiences that occur during the transition from wakefulness to sleep. hp0009lx5z Hypnagogic hallucinations are visual, auditory and tactile sensations are most commonly reported . Visual phenomena typically consist of kaleidoscopically changing phenomena such as geometric patterns, shapes and light flashes. Images involving animals, people and faces, and scenes also occur and are described as lifelike, highly detailed and colorful. Voices and other sounds (phone, doorbell, music) occur less commonly. They comprise vivid auditory impressions of words or names, people talking, and environmental or animal sounds. Somatic experiences also occur, including bodily distortions, feelings of weightlessness, flying or falling, and a sense of presence in the room. SNOMEDCT_US:44780000|MSH:D006212|UMLS:C0233773 owl:Class HP:0030503 biolink:NamedThing Macular telangiectasia hp0009lx5z Juxtafoveal telangiectasia|Parafoveal telangiectasia UMLS:C0339480|SNOMEDCT_US:232024000 owl:Class HP:0003159 biolink:NamedThing Hyperoxaluria Increased excretion of oxalates in the urine. hp0009lx5z High urine oxalate levels|Increased level of oxalate in urine UMLS:C0020500|MSH:D006959|SNOMEDCT_US:367621000119107 human_phenotype owl:Class HP:0006088 biolink:NamedThing 1-5 finger complete cutaneous syndactyly hp0009lx5z UMLS:C1861357 human_phenotype owl:Class HP:0033188 biolink:NamedThing Cystic acne A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum. hp0009lx5z 2020-10-04 12:02:47+00:00 peter owl:Class HP:0009302 biolink:NamedThing Bullet-shaped distal phalanx of the 4th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected. hp0009lx5z Bullet-shaped outermost bone of ring finger doelkens 2009-01-08T04:41:33Z UMLS:C4024458 human_phenotype owl:Class HP:0002195 biolink:NamedThing Dysgenesis of the cerebellar vermis Defective development of the vermis of cerebellum. hp0009lx5z Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography. UMLS:C4025719 owl:Class HP:0004496 biolink:NamedThing Posterior choanal atresia Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture). hp0009lx5z MSH:C562435|UMLS:C0220723 human_phenotype owl:Class HP:0000453 biolink:NamedThing Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). hp0009lx5z Blockage of the rear opening of the nasal cavity|Obstruction of the rear opening of the nasal cavity HP:0004503|HP:0000416 SNOMEDCT_US:204508009|Fyler:4203|MSH:D002754|UMLS:C0008297 human_phenotype owl:Class HP:0011108 biolink:NamedThing Recurrent sinusitis A recurrent form of sinusitis. hp0009lx5z Sinusitis, recurrent|Recurrent sinus disease Recurring inflammation of the paranasal sinuses. peter 2011-06-10T07:31:22Z UMLS:C4280333|UMLS:C0581354|SNOMEDCT_US:195788001 human_phenotype owl:Class HP:0033044 biolink:NamedThing Motor regression Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. hp0009lx5z Regression of motor skills peter owl:Class HP:0002376 biolink:NamedThing Developmental regression Loss of developmental skills, as manifested by loss of developmental milestones. hp0009lx5z Psychomotor regression beginning in infancy|Mental deterioration in childhood|Loss of developmental milestones|Psychomotor regression, progressive|Neurodevelopmental regression|Psychomotor regression in infants|Psychomotor regression Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. HP:0007037|HP:0006797|HP:0002471|HP:0002489|HP:0007242|HP:0006828|HP:0007247|HP:0006854 UMLS:C1859678|UMLS:C1855019|UMLS:C1836830|UMLS:C1857121|UMLS:C1850493|SNOMEDCT_US:609225004|UMLS:C1855996|UMLS:C1855009|UMLS:C1836550 human_phenotype owl:Class HP:0002270 biolink:NamedThing Abnormality of the autonomic nervous system An abnormality of the autonomic nervous system. hp0009lx5z The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness. UMLS:C4025714 human_phenotype owl:Class HP:0100322 biolink:NamedThing Aplasia of the pyramidal tract hp0009lx5z Absent pyramidal tract doelkens 2010-08-10T04:00:24Z UMLS:C4022147 human_phenotype owl:Class HP:0004527 biolink:NamedThing Large clumps of pigment irregularly distributed along hair shaft hp0009lx5z Large clumps of pigment irregularly distributed along hair shaft UMLS:C4025315 human_phenotype owl:Class HP:0009113 biolink:NamedThing Diaphragmatic weakness A decrease in the strength of the diaphragm. hp0009lx5z Diminished diaphragmatic motion|Weak diaphragm|Diaphragmatic paraparesis Diaphragmatic paralysis is an extreme form of diaphragmatic weakness. Weakness of the diaphragm can result from abnormalities at any site along its neuromuscular axis, although it most frequently arises from diseases in the phrenic nerves or from myopathies affecting the diaphragm itself. Presence of diaphragmatic weakness may be suspected from the complaint of dyspnea (particularly on exertion) or orthopnea; or the presence of rapid, shallow breathing or, more importantly, paradoxical inward motion of the abdomen during inspiration on physical examination. peter 2008-04-05T10:43:00Z HP:0005953|HP:0009111 SNOMEDCT_US:95438009|UMLS:C0521532|UMLS:C4020786 human_phenotype owl:Class HP:0030144 biolink:NamedThing Hypoactive bowel sounds An decreased amount of bowel sounds. hp0009lx5z Decreased bowel sounds UMLS:C0232695|SNOMEDCT_US:15280003 owl:Class HP:0200104 biolink:NamedThing Absent fifth fingernail Absence of nail of little finger. hp0009lx5z Absent nail of fifth finger|Absent fifth fingernail sebastiankohler 2013-06-05T12:11:16Z HP:0011366 UMLS:C4020917 owl:Class HP:0011302 biolink:NamedThing Long palm For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. hp0009lx5z Long palm hecht 2012-02-12T10:20:56Z HP:0001502 UMLS:C4023422 human_phenotype owl:Class HP:0033007 biolink:NamedThing Architectural distortion of the lung Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss. hp0009lx5z peter owl:Class HP:4000014 biolink:NamedThing Anti-desmoglein-3 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule. hp0009lx5z 2021-05-02 14:22:03+00:00 robinp owl:Class HP:0010736 biolink:NamedThing Monostotic fibrous dysplasia Fibrous dysplasia of the bones were lesions are localized in only one bone. hp0009lx5z doelkens 2010-04-21T06:31:50Z UMLS:C0016064|SNOMEDCT_US:89859004|MSH:D005358 human_phenotype owl:Class HP:0004399 biolink:NamedThing Congenital pyloric atresia Congenital atresia of the pylorus. hp0009lx5z peter 2008-03-18T09:15:00Z UMLS:C4025327 human_phenotype owl:Class HP:0005267 biolink:NamedThing Premature delivery because of cervical insufficiency or membrane fragility hp0009lx5z UMLS:C1851808 human_phenotype owl:Class HP:0005164 biolink:NamedThing Dysplastic pulmonary valve A congenital malformation of the pulmonary valve characterized by leaflet deformation. hp0009lx5z UMLS:C1866206 human_phenotype owl:Class HP:0033612 biolink:NamedThing Pure ground-glass pulmonary nodule Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed. hp0009lx5z 2021-01-30 22:26:04+00:00 peter owl:Class HP:0011011 biolink:NamedThing Subacute Somewhat rapid onset and change of disease manifestations. hp0009lx5z Subacute is between acute and chronic. peter 2011-02-20T10:27:54Z UMLS:C0205365|SNOMEDCT_US:19939008 owl:Class HP:0009467 biolink:NamedThing Radial deviation of the 2nd finger Displacement of the 2nd finger towards the radial side. hp0009lx5z Radially deviated index finger doelkens 2009-01-15T09:40:58Z HP:0004103|HP:0006053 UMLS:C1844709 human_phenotype owl:Class HP:0010455 biolink:NamedThing Steep acetabular roof An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance. hp0009lx5z peter 2009-09-14T11:18:20Z UMLS:C3150931 human_phenotype owl:Class HP:0010847 biolink:NamedThing EEG with spike-wave complexes (<2.5 Hz) The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG). hp0009lx5z Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. peter 2010-07-10T08:18:25Z UMLS:C4023686 human_phenotype owl:Class HP:0500156 biolink:NamedThing Hyperasparaginemia An increased amount of asparagine in the blood. hp0009lx5z Increased blood asparagine concentration|High blood asaparagine levels 2018-10-05 15:12:27+00:00 owl:Class HP:0007675 biolink:NamedThing Progressive night blindness hp0009lx5z Progressive night blindness UMLS:C4024818 human_phenotype owl:Class HP:0012887 biolink:NamedThing Ovarian serous cystadenoma A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue. hp0009lx5z Serous ovarian cyst Ovarian serous cystadenoma HAS a malignant potential several times greater than that of mucinous cystadenoma. It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. hecht 2014-06-11T09:32:06Z UMLS:C0346170|UMLS:C4020715|SNOMEDCT_US:119421006 human_phenotype owl:Class HP:0012395 biolink:NamedThing Seasonal allergy An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction. hp0009lx5z Seasonal allergy peter 2013-11-07T07:51:48Z UMLS:C0018621|SNOMEDCT_US:21719001|SNOMEDCT_US:444316004|SNOMEDCT_US:300910009|MSH:D006255|SNOMEDCT_US:367498001 human_phenotype owl:Class HP:0011949 biolink:NamedThing Acute infectious pneumonia Acute inflammation of the lung due to an infection. hp0009lx5z peter 2012-06-21T08:33:30Z UMLS:C4023112 human_phenotype owl:Class HP:0031599 biolink:NamedThing P mitrale A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II. hp0009lx5z 2017-10-15 14:01:02+00:00 peter owl:Class HP:0031342 biolink:NamedThing Duodenal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum. hp0009lx5z 2017-08-27 13:55:02+00:00 peter owl:Class HP:0031796 biolink:NamedThing Recurrent Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present. hp0009lx5z Intermittent 2018-02-25 14:40:47+00:00 peter owl:Class HP:0002512 biolink:NamedThing Brain stem compression hp0009lx5z SNOMEDCT_US:5582005|SNOMEDCT_US:25816005|UMLS:C0270680 human_phenotype owl:Class HP:0012390 biolink:NamedThing Anal fissure A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus. hp0009lx5z Anal erosion peter 2013-11-07T07:36:49Z MSH:D005401|SNOMEDCT_US:20928004|SNOMEDCT_US:30037006|UMLS:C0016167 human_phenotype owl:Class HP:0020152 biolink:NamedThing Distal joint laxity Lack of stability of a distal joint (e.g., finger). hp0009lx5z robinp 2019-07-05 20:21:18+00:00 owl:Class HP:0031977 biolink:NamedThing Increased vertical cup-to-disc ratio - 0.9 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). hp0009lx5z 2018-07-08 00:15:12+00:00 peter owl:Class HP:0025286 biolink:NamedThing Aggravated by activity Applied to a sign or symptom that is aggravated by activity, exertion, or exercise. hp0009lx5z Worsened by activity|Aggravated by exertion|Worse with activity|Aggravated by exercise 2016-12-18 15:30:58+00:00 HPO:probinson owl:Class HP:0011257 biolink:NamedThing Serpiginous crus of helix Curving course of the crus of the helix, approaching or joining the antitragus. hp0009lx5z Helix, crus, serpiginous peter 2011-12-18T05:56:25Z UMLS:C4021183 human_phenotype owl:Class HP:0007267 biolink:NamedThing Chronic axonal neuropathy An abnormality characterized by chronic impairment of the normal functioning of the axons. hp0009lx5z Chronic sural axonal neuropathy This feature is assayed with sural nerve biopsy and is generally taken to be indicative of neuropathy in other peripheral nerves. HP:0003446 UMLS:C4021578 human_phenotype owl:Class HP:4000023 biolink:NamedThing Anti-laminin gamma1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1. hp0009lx5z 2021-05-02 14:34:05+00:00 Anti-laminin gamma1 pemphigoid (ALG1P) is an autoimmune subepidermal bullous disease characterized by autoantibodies to a 200-kDa acidic noncollagenous glycoprotein of the lower lamina lucida. In contrast, anti-laminin-332 mucous membrane pemphigoid (MMP) is an autoimmune blistering disease characterized by autoantibodies to various subunits of laminin-332 of the basement membrane. robinp owl:Class HP:0006040 biolink:NamedThing Long second metacarpal hp0009lx5z Long 2nd long bone of hand UMLS:C1861531 human_phenotype owl:Class HP:0010601 biolink:NamedThing Abnormality of the proximal ulnar epiphysis Any abnormality of the proximal epiphysis of the ulna. hp0009lx5z sandra1 2009-10-22T06:41:21Z UMLS:C4023772 human_phenotype owl:Class HP:0033843 biolink:NamedThing Postprandial fullness Feeling excessively full after meals. hp0009lx5z 2021-05-30 20:40:29+00:00 peter owl:Class HP:0031339 biolink:NamedThing Abnormal cadiomyocyte dystrophin staining Anomalous staining of dystrophin in cardiomyocytes. hp0009lx5z 2017-08-27 13:42:50+00:00 Dystrophin, a 427-kD cytoskeletal protein, is a member of the beta-spectrin/alpha-actinin protein family. Dystrophin and the dystrophin-associated proteins (dystroglycans, sarcoglycans, sarcospan, dystrobrevin, and syntrophins) form a complex that is involved in contractile force transmission and stabilization of the plasma membrane. peter owl:Class HP:0003325 biolink:NamedThing Limb-girdle muscle weakness Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. hp0009lx5z Muscle weakness, limb-girdle|Muscular weakness, limb-girdle|Limb girdle weakness HP:0008971 UMLS:C1858127 owl:Class HP:0032586 biolink:NamedThing Renal interstitial plasma cell infiltration Increased numbers of plasma cells in the interstitial tissues of the kidney. hp0009lx5z peter owl:Class HP:0025344 biolink:NamedThing Interlobular bile duct destruction Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). hp0009lx5z 2017-02-12 13:44:46+00:00 In primary biliary cirrhosis, interlobular bile duct destruction is immune mediated. HPO:probinson owl:Class HP:0003247 biolink:NamedThing Overgrowth of external genitalia hp0009lx5z Overgrowth of external genitalia UMLS:C1851722 human_phenotype owl:Class HP:0033085 biolink:NamedThing Reduced antral follicle count A count of antral follicles that is lower than normal for age. hp0009lx5z peter owl:Class HP:0031715 biolink:NamedThing Near exotropia An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant). hp0009lx5z 2018-01-13 13:30:16+00:00 peter owl:Class HP:0040273 biolink:NamedThing Adenocarcinoma of the intestines A malignant epithelial tumor with a glandular organization that originates in the intestines. hp0009lx5z NCIT:C2852|UMLS:C4280683 owl:Class HP:0040192 biolink:NamedThing APUdoma An endocrine tumor arising from an APUD cell. hp0009lx5z amine precursor uptake and decarboxylation tumours Courtney Hum UMLS:C0003650|SNOMEDCT_US:253008000|SNOMEDCT_US:74926005|MSH:D001079 owl:Class HP:0025339 biolink:NamedThing Superficial episcleral hyperemia Prominence of blood vessels of the superficial episcleral tissues. hp0009lx5z Superficial episcleral hypaeremia 2017-02-12 12:45:32+00:00 The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab. HPO:probinson owl:Class HP:0030438 biolink:NamedThing Anal canal squamous cell carcinoma A squamous cell carcinoma that originates in the anal canal. hp0009lx5z Patients typically present with bright red bleeding, pain, and/or a palpable mass. When a clinically suspicious lesion is identified, diagnosis relies on cytologic or histologic confirmation. UMLS:C1332262 owl:Class HP:0011143 biolink:NamedThing Age-related cortical cataract A type of age-related cataract that primarily affects the cortex of the lens. hp0009lx5z The cortex of the lens is made of the newest lens fibres. With ageing, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature. peter 2011-06-27T09:50:54Z UMLS:C2880562 human_phenotype owl:Class HP:0009309 biolink:NamedThing Triangular shaped middle phalanx of the 4th finger Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. hp0009lx5z Triangular shaped middle bone of the ring finger doelkens 2009-01-08T04:59:22Z UMLS:C4024452 human_phenotype owl:Class HP:0030319 biolink:NamedThing Weakness of facial musculature Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). hp0009lx5z Facial weakness|Reduced facial muscle strength|Decreased facial muscle strength|Myasthenia of facial muscles|Weakness of facial musculature|Facial muscle weakness|Decreased strength of facial muscles|Face weakness|Weakness of face UMLS:C4022514 owl:Class HP:0033696 biolink:NamedThing Pseudo-chilblain Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet. hp0009lx5z Chilblain-like lesion|COVID toe 2021-03-07 23:03:37+00:00 This condition is termed pseudo-chilblain because of the similar appearance of these lesions to chilblains. Pseudochilblains may be observed in persons with COVID-19 without documented exposure to cold or other risk factors for chilblains. peter owl:Class HP:0032066 biolink:NamedThing Decreased serum bicarbonate concentration An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation. hp0009lx5z Decreased serum HCO3 concentration 2018-09-23 14:36:14+00:00 peter owl:Class HP:0030139 biolink:NamedThing Excessive bleeding after a venipuncture An abnormal high amount of bleeding following the procedure of taking a blood sample. hp0009lx5z UMLS:C4022609 owl:Class HP:0009354 biolink:NamedThing Small epiphysis of the proximal phalanx of the 3rd finger Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. hp0009lx5z Small end part of innermost long bone of the middle finger doelkens 2009-01-12T11:19:03Z UMLS:C4024415 human_phenotype owl:Class HP:0025099 biolink:NamedThing Dysgenesis of the thalamus Structural abnormality of the thalamus related to defective development. hp0009lx5z Thalamic dysgenesis 2016-10-28 06:51:03+00:00 Note that the term thalamic dysgenesis is generally used to refer to a morphological abnormality of the thalamus that is of presumed developmental (rather than acquired) origin. HPO:probinson owl:Class HP:0001563 biolink:NamedThing Fetal polyuria Abnormally increased production of urine by the fetus resulting in polyhydramnios. hp0009lx5z Foetal polyuria The fetal urine production rate can be measured by ultrasonography. UMLS:C1865279 human_phenotype owl:Class HP:0012383 biolink:NamedThing Bidirectional shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa. hp0009lx5z peter 2013-10-16T11:54:45Z SNOMEDCT_US:13352000|UMLS:C0428872 human_phenotype owl:Class HP:0033572 biolink:NamedThing Anti-H1 antibody positivity The presence of autoantibodies in the blood circulation that react against histone H1. hp0009lx5z 2021-01-24 13:51:55+00:00 peter owl:Class HP:0007455 biolink:NamedThing Adermatoglyphia hp0009lx5z UMLS:C1852150|MSH:C565010 human_phenotype owl:Class HP:0012488 biolink:NamedThing Intraventricular arachnoid cyst An arachnoid cyst located within the ventricular system. hp0009lx5z Arachnoid cysts very rarely occur within the ventricular system, where no arachnoid tissue exists. peter 2013-11-29T09:08:46Z UMLS:C4022883 owl:Class HP:0006358 biolink:NamedThing Shovel-shaped maxillary central incisors A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces. hp0009lx5z Shovel-shaped upper front teeth|Shovel tooth UMLS:C1833168 owl:Class HP:0500261 biolink:NamedThing Triggered by anesthetics Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics. hp0009lx5z Anaesthetics triggered symptoms|Triggered by anaesthetics|Anesthetics trigger episodes|Anesthetics triggered symptoms|Anaesthetics trigger episodes 2019-04-30 14:21:26+00:00 Symptoms that are provoked by anesthetics adminstration, including halothane, sevoflurane, desflurane, enflurane, isoflurane, propofol, or etomidate. owl:Class HP:0000658 biolink:NamedThing Eyelid apraxia hp0009lx5z Difficulty opening the eyelids UMLS:C1142448|SNOMEDCT_US:423142006 human_phenotype owl:Class HP:0004783 biolink:NamedThing Duodenal polyposis Presence of multiple polyps in the duodenum. hp0009lx5z Multiple duodenal polyps UMLS:C0578477|SNOMEDCT_US:301797007 human_phenotype owl:Class HP:0009980 biolink:NamedThing Complete duplication of the proximal phalanx of the 4th finger Complete duplication of the fourth proximal phalanx of hand. hp0009lx5z Complete duplication of the proximal bone of the ring finger doelkens 2009-05-26T02:20:23Z UMLS:C4024131 human_phenotype owl:Class HP:0032588 biolink:NamedThing Hand apraxia Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects. hp0009lx5z Lack of purposeful hand use peter owl:Class HP:0010527 biolink:NamedThing Astereognosia Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. hp0009lx5z Somatosensory agnosia|Astereognosis peter 2009-09-20T11:41:58Z SNOMEDCT_US:25094008|UMLS:C0234505|MSH:D000377 human_phenotype owl:Class HP:0500018 biolink:NamedThing Abnormal cardiac exercise stress test Abnormal results of exercise on heart function. hp0009lx5z Abnormal treadmill test|Abnormal cardiac exercise test|Abnormal exercise test 2017-05-12 16:41:01+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0032333 biolink:NamedThing Polyclonal elevation of circulating IgA A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis. hp0009lx5z 2019-02-18 14:10:14+00:00 peter owl:Class HP:0001522 biolink:NamedThing Death in infancy Death within the first 24 months of life. hp0009lx5z Infantile death|Death in early childhood|Death in infancy|Lethal in infancy HP:0003823|HP:0003817|HP:0003827|HP:0003818|HP:0003816 UMLS:C1844947|UMLS:C1858430 human_phenotype owl:Class HP:0011833 biolink:NamedThing Overhanging nasal tip Positioning of the nasal tip inferior to the nasal base. hp0009lx5z Drooping nasal tip|Overhanging nasal tip|Low hanging nasal tip|Nasal tip, overhanging|Hooked tip of nose This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately. peter 2012-05-01T07:42:15Z SNOMEDCT_US:249328007|UMLS:C0426430 human_phenotype owl:Class HP:0010474 biolink:NamedThing Bladder stones Buildups of minerals that form in the urinary bladder. hp0009lx5z peter 2009-09-15T10:03:20Z SNOMEDCT_US:70650003|MSH:D001744|UMLS:C0005683 human_phenotype owl:Class HP:0020089 biolink:NamedThing Post-vaccination rubella Infection with the rubella virus of the live-attenuated vaccine. hp0009lx5z 2019-04-08 17:36:47+00:00 robinp owl:Class HP:0011568 biolink:NamedThing Double orifice mitral valve The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue. hp0009lx5z In about 50% of Double orifice mitral valve (DOMV) cases, valvular function is normal, others present with stenosis or regurgitation. In most cases, a larger orifice is accompanied by a small eccentric accessory orifice, and some show duplicated mitral valves. Embryologically, the lesion results from abnormal leaflet fusion and persistence of the left part of the common atrio-ventricular canal. peter 2012-04-08T08:29:48Z SNOMEDCT_US:253402005|UMLS:C0344770 human_phenotype owl:Class HP:0007722 biolink:NamedThing Retinal pigment epithelial atrophy Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. hp0009lx5z HP:0008017|HP:0007698 UMLS:C1840457 owl:Class HP:0000303 biolink:NamedThing Mandibular prognathia Abnormal prominence of the chin related to increased length of the mandible. hp0009lx5z Hypertrophy of mandible|Large mandible|Prominent jaw|Increased size of lower jaw|Enlarged mandible|Increased projection of lower jaw|Prominent lower jaw|Increased projection of mandible|Relative mandibular prognathism|Lower jaw hyperplasia|Mandibular excess|Hypertrophy of lower jaw|Prognathism|Prominent mandible|Prominent chin|Lower jaw excess|Macromandible|Enlargement of mandible|Hyperplasia of lower jaw|Large lower jaw|Mandibular hyperplasia|Increased size of mandible|Mandibular macrognathia|Prognathia|Big lower jaw|Mandibular prognathism|Big mandible|Mandible prognathism HP:0004656|HP:0002051|HP:0008514|HP:0000279|HP:0004648|HP:0000251|HP:0000328 SNOMEDCT_US:109504005|MSH:D008313|UMLS:C0399526|SNOMEDCT_US:22810007|UMLS:C4280645|UMLS:C2227134|UMLS:C4280644|UMLS:C0302501 human_phenotype owl:Class HP:0020138 biolink:NamedThing History of recent animal bite Medical history of a recent bite injury due to an animal. hp0009lx5z The spectrum of injury is broad and infectious complications, generally due to unusual pathogens, are common. robinp 2019-07-05 17:44:09+00:00 owl:Class HP:0031357 biolink:NamedThing Glomeruloid hemangioma A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli. hp0009lx5z 2017-08-27 15:44:04+00:00 peter owl:Class HP:0032647 biolink:NamedThing Renal tubular epithelial cell apoptosis Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. hp0009lx5z peter owl:Class HP:0032163 biolink:NamedThing Molluscum contagiosum Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state. hp0009lx5z 2018-12-09 12:51:15+00:00 peter owl:Class HP:0012207 biolink:NamedThing Reduced sperm motility An abnormal reduction in the mobility of ejaculated sperm. hp0009lx5z Asthenospermia|Reduced sperm motility peter 2013-03-12T12:23:59Z UMLS:C4023002 human_phenotype owl:Class HP:0012206 biolink:NamedThing Abnormal sperm motility An anomaly of the mobility of ejaculated sperm. hp0009lx5z Abnormal sperm motility peter 2013-03-12T12:23:21Z UMLS:C0855512 human_phenotype owl:Class HP:0010288 biolink:NamedThing Abnormality of the sublingual glands Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands. hp0009lx5z peter 2009-07-12T10:42:35Z UMLS:C4023919 human_phenotype owl:Class HP:0007193 biolink:NamedThing Bilateral tonic-clonic seizure on awakening Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day). hp0009lx5z Morning generalized tonic-clonic seizures|Generalized tonic-clonic seizures on awakening|Morning generalised tonic-clonic seizures|Generalised tonic-clonic seizures on awakening HP:0007008 UMLS:C1847165 owl:Class HP:0003988 biolink:NamedThing Long ulna Increased length of the ulna. hp0009lx5z Disproportionately long ulnae HP:0006435 UMLS:C1848108 human_phenotype owl:Class HP:0002249 biolink:NamedThing Melena The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. hp0009lx5z Black feces|Black faeces SNOMEDCT_US:267055007|SNOMEDCT_US:249627005|MSH:D008551|SNOMEDCT_US:2901004|UMLS:C0025222|UMLS:C0474585|SNOMEDCT_US:35064005|SNOMEDCT_US:269899009 human_phenotype owl:Class HP:0031625 biolink:NamedThing Pseudoaneurysm A contained rupture of an artery with a disruption in all 3 layers of the arterial wall. hp0009lx5z 2017-12-16 15:55:45+00:00 Pseudoaneurysms may occur under 4 circumstances: (1) after catheterization; (2) at the site of native artery and synthetic graft anastomosis (eg, aortofemoral bypass graft); (3) trauma; and (4) infection (eg, mycotic PSA). peter owl:Class HP:0008473 biolink:NamedThing Narrow anterio-posterior vertebral body diameter An abnormal reduction of the anterioposterior diameter of the vertebral body. hp0009lx5z Reduced sagittal diameter of vertebrae|Reduced anterior-posterior diameter of vertebral bodies HP:0005732 UMLS:C4021540 human_phenotype owl:Class HP:0100117 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 2nd toe hp0009lx5z Increased bone density of end part of the middle bone of the 2nd toe doelkens 2010-06-24T10:05:37Z UMLS:C4022304 human_phenotype owl:Class HP:0001874 biolink:NamedThing Abnormality of neutrophils A neutrophil abnormality. hp0009lx5z Abnormality of neutrophils|Abnormality of neutrophil|Abnormality of polymorphonuclear neutrophils Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day. UMLS:C0427515|SNOMEDCT_US:250274006 human_phenotype owl:Class HP:0033088 biolink:NamedThing Valinuria Urine valine level above the normal range. hp0009lx5z Increased valine in urine peter owl:Class HP:4000058 biolink:NamedThing Glomerular proteinuria A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. PMID: 19634399 hp0009lx5z 2021-05-02 22:02:41+00:00 In contrast to glomerular proteinuria, tubular proteinuria is generally less than 1-2 g/24 h. In tubular proteinuria, although albumin remains a significant component, there is a relatively much greater increase in proteins of smaller than 60 000 Da robinp owl:Class HP:0003333 biolink:NamedThing Increased serum beta-hexosaminidase hp0009lx5z This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside. HP:0008299 UMLS:C2673361 human_phenotype owl:Class HP:0004010 biolink:NamedThing Small radial epiphyses hp0009lx5z UMLS:C4025447 human_phenotype owl:Class HP:0007772 biolink:NamedThing Impaired smooth pursuit An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. hp0009lx5z Abnormality of visual tracking|Abnormal visual pursuit|Impairment of visual pursuit HP:0008029 UMLS:C1848530|UMLS:C1837458 human_phenotype owl:Class HP:0045053 biolink:NamedThing Abnormality of the lumbosacral nerve plexus Any abnormality of the lumbosacral nerve plexus. hp0009lx5z HPO:skoehler UMLS:C4073177 owl:Class HP:0012633 biolink:NamedThing Asymmetry of intraocular pressure A difference in the amount of intraocular pressure in the right and left eye. hp0009lx5z peter 2014-01-17T11:21:18Z UMLS:C3805901 human_phenotype owl:Class HP:0003657 biolink:NamedThing Granular osmiophilic deposits (GROD) in cells hp0009lx5z UMLS:C1859833 human_phenotype owl:Class HP:0011332 biolink:NamedThing Hemifacial hypoplasia Unilateral underdevelopment of the facial tissues, including muscles and bones. hp0009lx5z Shrinking of one side of the face|Shrinking of half of face|Decrease in size of one side of the face|Decreased size of half of the face|Hemifacial microsomia|Decrease in size of half of face|Decreased size of one side of the face peter 2012-02-25T05:05:45Z UMLS:C4023411|MSH:D006053|SNOMEDCT_US:254025006|UMLS:C3495417 human_phenotype owl:Class HP:0032953 biolink:NamedThing Renal tubular cytomegalovirus inclusions Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. hp0009lx5z peter owl:Class HP:0006899 biolink:NamedThing Fusion of the cerebellar hemispheres hp0009lx5z UMLS:C1866131 human_phenotype owl:Class HP:0033199 biolink:NamedThing Increased circulating interleukin 10 An elevation of the concentration of interleukin 10 in the blood circulation. hp0009lx5z Increased serum interleukin 10 2020-10-11 12:18:51+00:00 IL-10 is an anti-inflammatory cytokine. During infection it inhibits the activity of Th1 cells, NK cells, and macrophages, all of which are required for optimal pathogen clearance but also contribute to tissue damage. In consequence, IL-10 can both impede pathogen clearance and ameliorate immunopathology. peter owl:Class HP:0033564 biolink:NamedThing Stasis dermatitis Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus. hp0009lx5z Venous eczema|Varicose eczema 2021-01-23 12:54:26+00:00 peter owl:Class HP:0025561 biolink:NamedThing Anterior chamber cells grade 1+ Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp0009lx5z 2017-12-14 13:15:06+00:00 HPO:probinson owl:Class HP:0012779 biolink:NamedThing Transient hearing impairment Hearing loss that occurs acutely and resolves completely. hp0009lx5z Transient hearing loss is particularly common in childhood as a result of inadequate ventilation of the middle ear. peter 2014-04-07T06:09:19Z UMLS:C4022724 human_phenotype owl:Class HP:0009569 biolink:NamedThing Broad middle phalanx of the 2nd finger Increased width of the middle phalanx of the second finger. hp0009lx5z Broad middle bone of the index finger doelkens 2009-01-28T05:10:24Z UMLS:C4024288 human_phenotype owl:Class HP:0033973 biolink:NamedThing Interlobular vein medial hypertrophy Increased thickness of middle layer of the interlobular veins of the kidney. hp0009lx5z Medial hypertrophy within interlobular veins 2021-06-24 12:58:30+00:00 peter owl:Class HP:0031496 biolink:NamedThing Mucinous cystic neoplasm of the pancreas Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma. hp0009lx5z 2017-09-18 00:49:14+00:00 peter owl:Class HP:0012892 biolink:NamedThing Facial muscle hypertrophy Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). hp0009lx5z Increased size of facial muscles|Hyperplasia of facial muscles|Large facial muscles peter 2014-06-23T10:58:42Z UMLS:C4022691|UMLS:C4280307 human_phenotype owl:Class HP:0004461 biolink:NamedThing Congenital earlobe sinuses Pits in the earlobes at the location where ears are typically pierced for earrings. hp0009lx5z UMLS:C1969394 human_phenotype owl:Class HP:0012895 biolink:NamedThing Scapular muscle hypertrophy Muscle hypertrophy affecting the scapular muscles. hp0009lx5z peter 2014-06-23T11:00:11Z UMLS:C4022688 human_phenotype owl:Class HP:0045025 biolink:NamedThing Narrow palpebral fissure Reduction in the vertical distance between the upper and lower eyelids. hp0009lx5z Decreased size of palpebral fissure|Narrow eyelid opening|Small palpebral fissures|Small opening between the eyelids|Narrow palpebral fissures HPO:skoehler UMLS:C1837464|UMLS:C2675021 owl:Class HP:0025122 biolink:NamedThing Sawtooth acanthosis A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis. hp0009lx5z Sawtoothed acanthosis 2016-11-14 01:39:51+00:00 HPO:probinson owl:Class HP:0025092 biolink:NamedThing Epidermal acanthosis Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). hp0009lx5z Thickening of upper layer of skin|Acanthosis|Acanthotic epidermis 2016-10-24 01:14:11+00:00 Note that we use the prefered label 'Epidermal acanthocytosis' to distinguish this term from acanthocytosis of red blood cells. HPO:probinson owl:Class HP:0033627 biolink:NamedThing Increased urine harderoporphyrin level Increased amount of harderoporphyrin in the urine. hp0009lx5z 2021-01-30 23:27:07+00:00 peter owl:Class HP:0007899 biolink:NamedThing Retinal nonattachment Failure of attachment of the retina during development. hp0009lx5z Congenital retinal non-attachment HP:0007849 UMLS:C4021563 human_phenotype owl:Class HP:0011948 biolink:NamedThing Recurrent acute respiratory tract infection A history of repeated acute infections of the upper or lower respiratory tract. hp0009lx5z Acute respiratory tract infection peter 2012-06-21T08:30:15Z UMLS:C1442786 human_phenotype owl:Class HP:0500246 biolink:NamedThing Increased CSF citrulline concentration Abnormally increased levels of citrulline in cerebrospinal fluid. hp0009lx5z High citrulline levels in cerebrospinal fluid 2019-02-26 15:49:01+00:00 owl:Class HP:0500245 biolink:NamedThing Abnormal CSF citrulline concentration Any deviation from the normal concentration of citrulline in the cerebrospinal fluid. hp0009lx5z Abnormal citrulline levels in cerebrospinal fluid 2019-02-26 15:48:42+00:00 owl:Class HP:0011982 biolink:NamedThing Black pigment gallstones A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates. hp0009lx5z peter 2012-07-18T09:25:05Z UMLS:C4023098 human_phenotype owl:Class HP:0011881 biolink:NamedThing Decreased platelet glycoprotein VI Decreased cell membrane concentration of glycoprotein VI. hp0009lx5z The glycoprotein VI is a glycoprotein receptor for collagen. peter 2012-06-02T09:17:33Z UMLS:C4023148 human_phenotype owl:Class HP:0012563 biolink:NamedThing Premature epimetaphyseal fusion in foot Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. hp0009lx5z peter 2014-01-04T02:05:25Z UMLS:C4022843 human_phenotype owl:Class HP:0007515 biolink:NamedThing Hypoplastic pilosebaceous units hp0009lx5z UMLS:C1832454 human_phenotype owl:Class HP:0001644 biolink:NamedThing Dilated cardiomyopathy Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. hp0009lx5z Congestive cardiomyopathy|Cardiomyopathy, dilated|DCM|Stretched and thinned heart muscle HP:0001725|HP:0005159|HP:0200130 Fyler:1843|MSH:D002311|SNOMEDCT_US:195021004|UMLS:C0007193|SNOMEDCT_US:399020009 owl:Class HP:0033917 biolink:NamedThing Arcuate intimal/medial venulitis Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural. hp0009lx5z Venulitis within arcuate vein intima/media 2021-06-23 23:29:43+00:00 peter owl:Class HP:0005442 biolink:NamedThing Widely patent coronal suture The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. hp0009lx5z UMLS:C1856778 human_phenotype owl:Class HP:0003173 biolink:NamedThing Hypoplastic pubic bone Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. hp0009lx5z Hypoplastic pubic bones|Hypoplastic pubis UMLS:C1865030 human_phenotype owl:Class HP:0005216 biolink:NamedThing Impaired mastication An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. hp0009lx5z Chewing difficulties|Chewing difficulty|Difficulty chewing Chewing and swallowing are interrelated. The act of chewing plays a fundamental role in the process of swallowing food. Mastication prepares food for swallowing by breaking it into small particles. Accordingly, loss of teeth has been associated with swallowing difficulties. Chewing difficulties may be caused by loss of teeth, partial dentures, or by tooth pain. Swallowing difficulties, in contrast, are often characterized by difficulties swallowing liquids, reflux, throat spasms, choking on dry food, or dysphagia. SNOMEDCT_US:162020001|UMLS:C0239043 owl:Class HP:0031419 biolink:NamedThing Reduced sex -hormone binding protein level A decreased concentration of sex-hormone binding protein in the circulation. hp0009lx5z Reduced androgen-binding protein level 2017-09-12 02:20:36+00:00 Sex hormone binding globulin (NCBI Gene 6462) is also known as sex hormone binding protein and androgen binding protein. peter owl:Class HP:0004594 biolink:NamedThing Hump-shaped mound of bone in central and posterior portions of vertebral endplate hp0009lx5z UMLS:C1839252 human_phenotype owl:Class HP:0008133 biolink:NamedThing Distal tapering of metatarsals hp0009lx5z UMLS:C4024729 human_phenotype owl:Class HP:0025537 biolink:NamedThing Plantar edema An abnormal accumulation of fluid beneath the skin on sole of the foot. hp0009lx5z Plantar oedema 2017-05-18 01:29:36+00:00 HPO:probinson owl:Class HP:0410399 biolink:NamedThing Positive blood lead test Detection of lead in the blood. hp0009lx5z Increased blood lead level owl:Class HP:0008372 biolink:NamedThing Abnormality of vitamin A metabolism hp0009lx5z peter 2008-04-04T12:29:00Z UMLS:C4024686 human_phenotype owl:Class HP:0009939 biolink:NamedThing Mandibular aplasia Absence of the mandible. hp0009lx5z Agenesis of the mandible|Absence of lower jaw bone|Aplasia of the lower jaw bone|Failure of development of lower jaw|Failure of development of mandible|Absence of lower jaw bones|Absence of mandible|Missing lower jaw|Agnathia|Absence of lower jaw|Absent mandible peter 2009-05-10T11:27:14Z SNOMEDCT_US:91922000|SNOMEDCT_US:91896009|UMLS:C0685776|UMLS:C4021371|UMLS:C0685775 human_phenotype owl:Class HP:0007811 biolink:NamedThing Horizontal pendular nystagmus Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. hp0009lx5z Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. HP:0200069 UMLS:C1866180 human_phenotype owl:Class HP:0025164 biolink:NamedThing Increased number of elastic fibers in the dermis An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. hp0009lx5z Increased number of elastic fibres in the dermis 2016-12-04 13:43:21+00:00 HPO:probinson owl:Class HP:0031679 biolink:NamedThing Type I atherosclerotic lesion Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells). hp0009lx5z 2017-12-17 17:29:15+00:00 Type I lesions consist of the first microscopically and chemically detectable lipid deposits in the intima and the cell reactions associated with such deposits.The initial histological changes in the human intima are minimal. Small, isolated groups of macrophages containing lipid droplets (macrophage foam cells) form. In coronary arteries these cells pref- erentially accumulate in regions of the intima that have an adaptive intimal thickening of the eccentric type. peter owl:Class HP:5000002 biolink:NamedThing Anti-Amphiphysin antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin. hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0030683 biolink:NamedThing Vaginitis Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge. hp0009lx5z Vulvovaginitis The most common infectious causes of vaginitis are bacterial vaginosis, vulvovaginal candidiasis, and trichomoniasis. Physicians traditionally diagnose vaginitis using the combination of symptoms, physical examination, pH of vaginal fluid, microscopy, and the whiff test. MSH:D014627|UMLS:C0042267|SNOMEDCT_US:30800001 owl:Class HP:0100313 biolink:NamedThing Cerebral granulomatosis Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. hp0009lx5z A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). doelkens 2010-08-10T03:19:05Z UMLS:C4022150 human_phenotype owl:Class HP:0030137 biolink:NamedThing Prolonged bleeding following circumcision Bleeding that persists for a longer than usual time following circumcision. hp0009lx5z Prolonged bleeding following circumcision UMLS:C4022611 owl:Class HP:0003616 biolink:NamedThing Premature separation of centromeric heterochromatin hp0009lx5z UMLS:C1849316 human_phenotype owl:Class HP:0004482 biolink:NamedThing Relative macrocephaly A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. hp0009lx5z Macrocephaly, relative|Relatively large head|Disproportionately large head HP:0001364|HP:0000257 UMLS:C1849075|SNOMEDCT_US:3961000119101 human_phenotype owl:Class HP:0033129 biolink:NamedThing Abnormal shoulder physiology Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm. hp0009lx5z 2020-09-05 13:42:07+00:00 peter owl:Class HP:0009117 biolink:NamedThing Aplasia/Hypoplasia of the maxilla Absence or underdevelopment of the maxilla. hp0009lx5z Underdevelopment of upper jaw bones|Underdevelopment of maxilla peter 2008-04-05T10:57:00Z UMLS:C4024590 human_phenotype owl:Class HP:0033196 biolink:NamedThing Portal inflammation Infiltration of portal fields by inflammatory cells. hp0009lx5z Hepatic portal inflammation 2020-10-11 12:07:59+00:00 In nonalcoholic fatty liver disease, portal inflammation is comprised of cells referred to as chronic, i.e. lymphocytes, plasma cells, occasional eosinophils, monocytes. peter owl:Class HP:0004041 biolink:NamedThing Cupped ulnar metaphysis hp0009lx5z UMLS:C4025422 human_phenotype owl:Class HP:0011381 biolink:NamedThing Aplasia of the semicircular canal Absence of the semicircular canal. hp0009lx5z Absent semicircular canal peter 2012-03-09T07:14:57Z UMLS:C4023385 human_phenotype owl:Class HP:0031564 biolink:NamedThing Bronchial isomerism An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism). hp0009lx5z 2017-09-29 22:43:03+00:00 peter owl:Class HP:0031861 biolink:NamedThing Decreased heart rate variability Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. hp0009lx5z Reduced heart rate variability 2018-05-05 21:03:46+00:00 peter owl:Class HP:0031860 biolink:NamedThing Abnormal heart rate variability Any abnormality in the variability of the time interval between successive heartbeats. hp0009lx5z 2018-05-05 21:02:07+00:00 peter owl:Class HP:0000741 biolink:NamedThing Apathy hp0009lx5z Lack of feeling, emotion, interest MSH:D057565|UMLS:C0085632|SNOMEDCT_US:20602000 human_phenotype owl:Class HP:0031697 biolink:NamedThing Disseminated infection with live vaccine virus A dissemination viral infection caused by a live attenuated vaccine virus. hp0009lx5z 2017-12-17 22:41:17+00:00 peter owl:Class HP:0011920 biolink:NamedThing Transudative pleural effusion A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. hp0009lx5z Transudates result from imbalances in hydrostatic and oncotic forces and are caused by a limited number of recognized clinical conditions such as heart failure and cirrhosis. Less common causes include nephrotic syndrome, atelectasis, peritoneal dialysis, constrictive pericarditis, superior vena caval obstruction, and urinothorax. peter 2012-06-08T07:31:00Z SNOMEDCT_US:79231000|MSH:D006876|UMLS:C0020312 human_phenotype owl:Class HP:0009886 biolink:NamedThing Trichorrhexis nodosa Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. hp0009lx5z peter 2009-04-30T05:51:57Z SNOMEDCT_US:22486004|SNOMEDCT_US:238736006|UMLS:C0263485 human_phenotype owl:Class HP:0000680 biolink:NamedThing Delayed eruption of primary teeth Delayed tooth eruption affecting the primary dentition. hp0009lx5z Late eruption of primary teeth|Late eruption of milk teeth|Delayed primary teeth eruption|Late eruption of baby teeth|Delayed eruption of baby teeth|Delayed eruption of deciduous teeth|Delayed eruption of milk teeth UMLS:C1849538 owl:Class HP:0003940 biolink:NamedThing Osteoarthritis of the elbow hp0009lx5z UMLS:C0409954|SNOMEDCT_US:239866002 human_phenotype owl:Class HP:0033433 biolink:NamedThing Ileocecal ulcer An erosion of the mucous membrane in the region connecting the ileum and cecum. hp0009lx5z Ileo-cecal ulcer 2021-01-09 18:11:11+00:00 peter owl:Class HP:0012047 biolink:NamedThing Hemeralopia A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. hp0009lx5z Day blindness peter 2012-08-01T12:26:28Z UMLS:C0018975|MSH:D014786|SNOMEDCT_US:399323001 owl:Class HP:0011419 biolink:NamedThing Placental abruption Separation of the placenta from the uterus wall before delivery. hp0009lx5z Abruptio placentae peter 2012-03-15T11:08:18Z SNOMEDCT_US:405736009|UMLS:C0000832|MSH:D000037|SNOMEDCT_US:415105001 owl:Class HP:0002875 biolink:NamedThing Exertional dyspnea Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. hp0009lx5z Exertional breathlessness|Exertional dyspnoea|Shortness of breathing upon physical activity UMLS:C0231807|SNOMEDCT_US:60845006 owl:Class HP:0033009 biolink:NamedThing Increased fecal coproporphyrin 1 Abnormally high concentration of coproporphyrin 3 in feces. hp0009lx5z High faecal coproporphyrin 1|Increased faecal coproporphyrin 1|High fecal coproporphyrin 1|High stool coproporphyrin 1|Elevated faecal coproporphyrin 1|Elevated fecal coproporphyrin 1|Elevated stool coproporphyrin 1 peter owl:Class HP:0002932 biolink:NamedThing Aldehyde oxidase deficiency A reduction in aldehyde oxidase level. hp0009lx5z Aldehyde oxidase generates carboxylic acids from aldehydes. UMLS:C1291266|SNOMEDCT_US:124161002 human_phenotype owl:Class HP:0005035 biolink:NamedThing Shortening of all phalanges of the toes Developmental hypoplasia (shortening) of all phalanges of the foot. hp0009lx5z Short toe bones UMLS:C4025257 human_phenotype owl:Class HP:0000122 biolink:NamedThing Unilateral renal agenesis A unilateral form of agenesis of the kidney. hp0009lx5z Unilateral kidney agenesis|Single kidney|Absent kidney on one side|Missing one kidney Fyler:4509|UMLS:C0266294|SNOMEDCT_US:55726006 human_phenotype owl:Class HP:0005656 biolink:NamedThing Positional foot deformity A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. hp0009lx5z UMLS:C4025161 human_phenotype owl:Class HP:0011573 biolink:NamedThing Hypoplastic tricuspid valve Congenital defect characterized by underdevelopment of the tricuspid valve. hp0009lx5z Tricuspid valve hypoplasia|Underdeveloped tricuspid valve peter 2012-04-08T10:22:38Z Fyler:1720|UMLS:C4023294 human_phenotype owl:Class HP:0032462 biolink:NamedThing Increased circulating palmitate level An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation. hp0009lx5z 2019-03-09 17:54:11+00:00 Palmitic acid (16:0, PA) is the most common saturated fatty acid found in the human body and can be provided in the diet or synthesized endogenously from other fatty acids, carbohydrates and amino acids. PA represents 20-30% of total fatty acids (FA) in membrane phospholipids, and adipose triacylglycerols (TAG). peter owl:Class HP:0040169 biolink:NamedThing Loose anagen hair hp0009lx5z UMLS:C3554793 owl:Class HP:0040170 biolink:NamedThing Abnormality of hair growth hp0009lx5z UMLS:C4073136 owl:Class HP:0009584 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger. hp0009lx5z Lytic defects of proximal index finger phalanx doelkens 2009-01-28T05:26:39Z HP:0004123 UMLS:C4021433 human_phenotype owl:Class HP:0033189 biolink:NamedThing Radiculomegaly Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length. hp0009lx5z Root gigantism|Rhizomegaly|Long dental root 2020-10-04 12:04:47+00:00 peter owl:Class HP:0001508 biolink:NamedThing Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. hp0009lx5z Weight faltering|Faltering weight|Undergrowth|Poor weight gain|Postnatal failure to thrive Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). HP:0008853|HP:0008916|HP:0001535|HP:0008878 SNOMEDCT_US:432788009|SNOMEDCT_US:36440009|UMLS:C0231246|UMLS:C2315100 human_phenotype owl:Class HP:0030399 biolink:NamedThing Abnormal platelet alpha granule secretion Abnormal release of alpha granule contents from platelets. hp0009lx5z UMLS:C4072932 owl:Class HP:0004797 biolink:NamedThing Multiple small bowel atresias The presence of multiple areas of atresia affecting the small intestine. hp0009lx5z UMLS:C1857476 human_phenotype owl:Class HP:0000960 biolink:NamedThing Sacral dimple A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. hp0009lx5z Spinal dimple|Pilonidal dimple UMLS:C0426848|SNOMEDCT_US:249729002|SNOMEDCT_US:311897005 human_phenotype owl:Class HP:0000485 biolink:NamedThing Megalocornea An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. hp0009lx5z Macrocornea|Enlarged cornea|Increased corneal diameter|Anterior megalophthalmos HP:0007660 MSH:C562829|UMLS:C1167712|SNOMEDCT_US:268158009|UMLS:C0344530|SNOMEDCT_US:204118005 human_phenotype owl:Class HP:0001923 biolink:NamedThing Reticulocytosis An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. hp0009lx5z Increased reticulocyte count|Polychromasia|Increased reticulocytes|Increased number of immature red blood cells|Increased immature red blood cells MSH:D045262|UMLS:C0206160|SNOMEDCT_US:46049004 owl:Class HP:0040148 biolink:NamedThing Cortical myoclonus Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). hp0009lx5z HPO:skoehler SNOMEDCT_US:698835006|UMLS:C3698239 owl:Class HP:0410207 biolink:NamedThing Positive methadone plasma/serum test Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum. hp0009lx5z 2018-09-11 23:47:39+00:00 Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency. owl:Class HP:0005148 biolink:NamedThing Pulmonary valve defects Any defect in the valve connecting the heart and the pulmonary artery. hp0009lx5z UMLS:C1860165 human_phenotype owl:Class HP:0030869 biolink:NamedThing Anorchism An abnormality of XY sexual development characterized by the absence of both testes at birth. hp0009lx5z UMLS:C1261504|MSH:C537770|SNOMEDCT_US:371015003 owl:Class HP:0006529 biolink:NamedThing Abnormal pulmonary lymphatics An abnormality of the pulmonary lymphatic chain. hp0009lx5z UMLS:C4025026 owl:Class HP:0006439 biolink:NamedThing Radioulnar dislocation hp0009lx5z Dislocated radioulnar joints HP:0003972 UMLS:C2673394 human_phenotype owl:Class HP:0011413 biolink:NamedThing Shoulder dystocia Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex. hp0009lx5z Adelivery in which additional maneuvers are required to deliver the fetus after normal gentle downward traction has failed. peter 2012-03-15T10:01:02Z SNOMEDCT_US:89700002|UMLS:C0269825 human_phenotype owl:Class HP:0033461 biolink:NamedThing Elevated circulating 3-hydroxylinoleylcarnitine concentration Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation. hp0009lx5z Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH 2021-01-09 22:23:15+00:00 peter owl:Class HP:0004880 biolink:NamedThing Respiratory infections in early life Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections. hp0009lx5z UMLS:C4025280 human_phenotype owl:Class HP:0500007 biolink:NamedThing Iris flocculi Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. hp0009lx5z Iris flocculi cause little, if any, visual impairment in most cases. However, they are occasionally associated with dissecting aortic aneurysm due to a shared mutation in smooth muscle that affects both the iris and the aorta. owl:Class HP:0004633 biolink:NamedThing Lower thoracic kyphosis Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. hp0009lx5z Round mid-back UMLS:C1864361 human_phenotype owl:Class HP:0031792 biolink:NamedThing Irregular astigmatism A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision. hp0009lx5z 2018-01-28 13:51:36+00:00 peter owl:Class HP:0003542 biolink:NamedThing Increased serum pyruvate An increased concentration of pyruvate in the blood. hp0009lx5z Increased serum pyruvic acid An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle. UMLS:C1849488 human_phenotype owl:Class HP:0004366 biolink:NamedThing Abnormality of glycolysis An abnormality of glycolysis. hp0009lx5z peter 2008-03-17T05:00:00Z UMLS:C4025334 human_phenotype owl:Class HP:0031646 biolink:NamedThing Fusiform aortic arch aneurysm A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall. hp0009lx5z 2017-12-17 14:19:02+00:00 peter owl:Class HP:0007183 biolink:NamedThing Focal T2 hyperintense basal ganglia lesion A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. hp0009lx5z Hyperintense lesions in the basal ganglia on MRI UMLS:C1865351|UMLS:C4024926 human_phenotype owl:Class HP:3000029 biolink:NamedThing Abnormality of depressor labii inferioris An abnormality of a depressor labii inferioris. hp0009lx5z Abnormality of depressor labii inferioris muscle vasilevs 2015-08-07T00:16:25Z UMLS:C4073238 human_phenotype owl:Class HP:0031438 biolink:NamedThing Abnormal sex hormone-binding globulin level A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood. hp0009lx5z 2017-09-17 12:29:14+00:00 Sex hormone-binding globulin (SHBG, Gene ID: 6462) binds the three sex hormones estrogen, dihydrotestosterone (DHT), and testosterone. Reduction in the level of SHBG can result in an increased level of free (unbound, and therefore active) sex hormones. peter owl:Class HP:0033670 biolink:NamedThing Organizing pneumonia Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities. hp0009lx5z 2021-02-28 14:59:16+00:00 See Figure 45 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0010146 biolink:NamedThing Small epiphysis of the distal phalanx of the hallux hp0009lx5z Small end part of the outermost bone of the big toe doelkens 2009-05-29T01:22:47Z UMLS:C4024013 human_phenotype owl:Class HP:0004581 biolink:NamedThing Increased anterior vertebral height hp0009lx5z UMLS:C1866732 human_phenotype owl:Class HP:0004860 biolink:NamedThing Thiamine-responsive megaloblastic anemia A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. hp0009lx5z Thiamine-responsive megaloblastic anaemia UMLS:C0271972|SNOMEDCT_US:12907000 human_phenotype owl:Class HP:0012260 biolink:NamedThing Abnormal central microtubular pair morphology of respiratory motile cilia A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. hp0009lx5z The central microtubular pair is referred to as the central part of axoneme of cilium. peter 2013-04-07T09:58:27Z UMLS:C4022985 human_phenotype owl:Class HP:0040326 biolink:NamedThing Hypoplasia of the olfactory bulb Underdevelopment of the olfactory bulb. hp0009lx5z Hypoplasia of olfactory bulb|Hypoplastic olfactory bulb owl:Class HP:0033908 biolink:NamedThing Renal arteriole medial atrophy Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. hp0009lx5z 2021-06-23 22:55:09+00:00 peter owl:Class HP:0009955 biolink:NamedThing Partial duplication of the proximal phalanx of the 2nd finger Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Partial duplication of the proximal bones of the index finger doelkens 2009-05-15T02:06:11Z UMLS:C4024147 human_phenotype owl:Class HP:0003226 biolink:NamedThing Rectilinear intracellular accumulation of autofluorescent lipopigment storage material An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. hp0009lx5z Rectilinear profiles ultrastructurally UMLS:C1850447 human_phenotype owl:Class HP:0032504 biolink:NamedThing Lhermitte's sign An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk. hp0009lx5z Barber chair phenomenon|Lhermitte's phenomenon 2019-05-23 22:58:55+00:00 Lhermitte's sign is caused by miscommunication between the nerves that have become demyelinated. The pathophysiology of Lhermitte's sign was described as the stretching of the hyper excitable demyelinated dorsal column of the spinal cord, particularly at the cervical level, thus triggering an electric shock-like sensation. peter owl:Class HP:0004381 biolink:NamedThing Supravalvular aortic stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. hp0009lx5z peter 2008-03-18T08:54:00Z MSH:D021921|Fyler:1430|SNOMEDCT_US:268185002|UMLS:C0003499 owl:Class HP:0033102 biolink:NamedThing Monkey wrench femoral neck The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle. hp0009lx5z Monkey wrench configuration of the proximal femur|Swedish key appearance of femoral neck|Swedish key configuration of the proximal femur|Monkey wrench appearance of femoral neck peter owl:Class HP:0500081 biolink:NamedThing Pseudophakia The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL). hp0009lx5z 2018-02-26 20:00:29+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0002816 biolink:NamedThing Genu recurvatum An abnormally increased extension of the knee joint, so that the knee can bend backwards. hp0009lx5z Knee hyperextension|Genu recurvata|Back knee Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension. MEDDRA:10018194|UMLS:C0546964 human_phenotype owl:Class HP:0003357 biolink:NamedThing Thymic hormone decreased A reduction in the level of thymic horomone. hp0009lx5z Decreased thymic hormone UMLS:C1857652 owl:Class HP:0002401 biolink:NamedThing Stroke-like episode No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. hp0009lx5z Strokelike episodes|Stroke-like episodes Stroke-like episodes are phenotypic features predominantly of mitochondrial disorders, most frequently mitochondrial encephalopathy, lactacidosis, SLE (MELAS)-syndrome, and mimic the clinical manifestations of ischemic stroke to some extent. UMLS:C1857287 human_phenotype owl:Class HP:0032776 biolink:NamedThing Focal aware autonomic seizure with lacrimation hp0009lx5z A focal autonomic seizure with lacrimation characterized by retained awareness throughout the seizure. peter owl:Class HP:0033791 biolink:NamedThing Tooth ankylosis Fusion of a tooth with alveolar bone. hp0009lx5z 2021-05-07 11:24:36+00:00 Ankylosis is uncommon in the deciduous dentition and very rare in the permanent dentition. It may be observed after trauma. Ankylosis may occur at the crown or root level. peter owl:Class HP:0032477 biolink:NamedThing Elevated circulating vitamin B6 level An abnormally increased concentration of vitamin B6 in the blood circulation. hp0009lx5z 2019-04-09 12:08:42+00:00 peter owl:Class HP:0011242 biolink:NamedThing Underdeveloped stem of antihelix Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix. hp0009lx5z Antihelix, stem, underdeveloped The degree of prominence of the stem is highly variable and is attributable to the volume of the cartilage and/or the acuteness of the folding angle. Interpretation of degree of antihelical prominence may be difficult when the conchal anatomy is distorted, e.g., in cupped ear. peter 2011-12-18T11:38:15Z UMLS:C4021192 human_phenotype owl:Class HP:0030353 biolink:NamedThing Decreased serum insulin-like growth factor 1 A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. hp0009lx5z UMLS:C4072897 owl:Class HP:0005254 biolink:NamedThing Unilateral chest hypoplasia hp0009lx5z Small chest on one side|Underdeveloped chest on one side UMLS:C1845576 human_phenotype owl:Class HP:0100825 biolink:NamedThing Cheilitis Inflammation of the lip. hp0009lx5z Inflammation of the lips|Red and sore lips It is associated with many conditions, including megaloblastic anemia from vitamin B12 deficiency, iron deficiency anemia (which in severe cases can lead to Plummer-Vinson syndrome) and oral candidiasis. It can also be a symptom of allergies, such as allergy to Balsam of Peru. Cheilitis can also be caused by taking the (retinoid) drug Isotretinoin. It may also be a pre-malignant lesion for squamous cell carcinoma. doelkens 2011-06-09T05:18:41Z UMLS:C4280288|UMLS:C0007971|MSH:D002613|SNOMEDCT_US:7847004 human_phenotype owl:Class HP:0012272 biolink:NamedThing J wave The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point. hp0009lx5z Osborne waves|EKG J waves J waves can be seen in hypothermia when the core body temperature falls below 32 degrees C. Then, they occur most prominently in the inferior leads: II, III, and aVF and the precordial leads: V5-V6. J waves can also be observed in other conditions such as some forms of Brugada syndrome. peter 2013-04-07T02:11:05Z UMLS:C4018858 human_phenotype owl:Class HP:0200108 biolink:NamedThing Shortened outer dynein arms hp0009lx5z sebastiankohler 2013-06-05T12:15:10Z UMLS:C4021889 human_phenotype owl:Class HP:0020135 biolink:NamedThing Myofibromatosis A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance. hp0009lx5z robinp 2019-07-05 17:28:59+00:00 owl:Class HP:0004240 biolink:NamedThing Sclerotic foci within carpal bones hp0009lx5z Hardened spots within wrist bones|Stiffened spots within wrist bones UMLS:C4025398|UMLS:C4280535 human_phenotype owl:Class HP:0010196 biolink:NamedThing Bullet-shaped middle toe phalanx An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped middle bones of the toes|Bullet-shaped middle phalanges of the toes doelkens 2009-05-29T01:53:35Z UMLS:C4021321 human_phenotype owl:Class HP:0011133 biolink:NamedThing Increased sensitivity to ionizing radiation An abnormally increased sensitivity to the effects of ionizing radiation. hp0009lx5z Increased sensitivity to ionising radiation Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions. peter 2011-06-19T11:04:20Z UMLS:C4021850 human_phenotype owl:Class HP:0008583 biolink:NamedThing Underfolded superior helices A condition in which the superior portion of the helix is folded over to a lesser degree than normal. hp0009lx5z UMLS:C4024655 human_phenotype owl:Class HP:0008577 biolink:NamedThing Underfolded helix Underdevelopment of the helix that either affects the entire helix, or is localized. hp0009lx5z Poorly folded helices Helix folding is highly variable, and the range is illustrated in Figures 29 and 30. To use this term, the affected area must be too long to be considered a Cleft helix. Underdevelopment of part of the helix can lead to the impression that the scaphal area is enlarged. UMLS:C1849735 human_phenotype owl:Class HP:0003958 biolink:NamedThing Cross-fusion of the forearm bones hp0009lx5z UMLS:C4025480 human_phenotype owl:Class HP:0008019 biolink:NamedThing Superior lens subluxation Partial dislocation of the lens in a superior direction. hp0009lx5z Superior subluxated lens UMLS:C2036843 human_phenotype owl:Class HP:0033132 biolink:NamedThing Renal cortical hyperechogenicity Increased echogenecity of the kidney cortex. hp0009lx5z 2020-09-09 13:01:52+00:00 peter owl:Class HP:0500230 biolink:NamedThing Increased CSF glycine concentration Abnormally increased levels of glycine in cerebrospinal fluid. hp0009lx5z High glycine levels in cerebrospinal fluid 2019-02-25 20:40:30+00:00 owl:Class HP:0006514 biolink:NamedThing Intraalveolar nodular calcifications hp0009lx5z UMLS:C4025028 human_phenotype owl:Class HP:0000161 biolink:NamedThing Median cleft lip A type of cleft lip presenting as a midline (median) gap in the upper lip. hp0009lx5z Midline cleft lip|Central cleft upper lip UMLS:C1850256 human_phenotype owl:Class HP:0032379 biolink:NamedThing Polymorphous light eruption The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces. hp0009lx5z Sun allergy 2019-02-24 14:52:07+00:00 peter owl:Class HP:0012615 biolink:NamedThing Cylindruria The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine. hp0009lx5z Urinary casts Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. The casts are suibsequently eliminated via the urine and may be seen by microscopy of the urine sediment. A large number of casts can indicate kidney disease. Urinary casts are composed of Tamm-Horsfall protein, which is a mucoprotein that is secreted by the distal loop of Henle. peter 2014-01-17T12:03:19Z UMLS:C0151990|SNOMEDCT_US:5277004 human_phenotype owl:Class HP:0007471 biolink:NamedThing Axillary and groin hyperpigmentation and hypopigmentation hp0009lx5z UMLS:C4024866 human_phenotype owl:Class HP:0012334 biolink:NamedThing Extrahepatic cholestasis Impairment of bile flow due to obstruction in large bile ducts outside the liver. hp0009lx5z peter 2013-09-13T08:13:48Z MSH:D001651|UMLS:C0005398|SNOMEDCT_US:8262006|SNOMEDCT_US:20719006 human_phenotype owl:Class HP:0041064 biolink:NamedThing Fractured knee A partial or complete breakage of the knee. hp0009lx5z bone knee owl:Class HP:0033974 biolink:NamedThing Interlobular vein intima/media multilamellation Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. hp0009lx5z Multilamellation (onion skinning) within interlobular vein intima/media|Interlobular vein intima/media onion skinning 2021-06-24 14:07:35+00:00 peter owl:Class HP:0000275 biolink:NamedThing Narrow face Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). hp0009lx5z Transverse insufficiency of face|Narrow facies|Decreased horizontal dimension of face|Horizontal hypoplasia of face|Narrow face|Transverse hypoplasia of face|Decreased width of face|Horizontal deficiency of face|Thin face|Transverse deficiency of face|Thin facies|Decreased transverse dimension of face|Horizontal insufficiency of face|Decreased breadth of face Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. HP:0000318 UMLS:C1837463|UMLS:C1849121 human_phenotype owl:Class HP:0002730 biolink:NamedThing Chronic noninfectious lymphadenopathy A chronic form of lymphadenopathy that is not related to infection. hp0009lx5z UMLS:C1858970 human_phenotype owl:Class HP:0410156 biolink:NamedThing Increased level of N-acetylneuraminic acid in urine An increase in the level of N-acetylneuraminic acid in the urine. hp0009lx5z Increased level of Neu5Ac in urine|Increased level of NANA in urine 2018-03-28 00:27:38+00:00 owl:Class HP:0001989 biolink:NamedThing Fetal akinesia sequence Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). hp0009lx5z Early severe foetal akinesia sequence|Fetal akinesia|Foetal akinesia|Foetal akinesia sequence|Early severe fetal akinesia sequence UMLS:C1276035|MSH:C536647|UMLS:C3151520|SNOMEDCT_US:401138005 human_phenotype owl:Class HP:0001558 biolink:NamedThing Decreased fetal movement An abnormal reduction in quantity or strength of fetal movements. hp0009lx5z Decreased foetal movements|Less than 10 foetal movements in 12 hours|Decreased foetal activity|Decreased movement in utero|Decreased fetal movements|Reduced fetal movements|Less than 10 fetal movements in 12 hours|Reduced fetal movement|Decreased fetal activity|Reduced foetal movement|Fetal hypokinesia|Reduced foetal movements|Decreased foetal movement|Foetal hypokinesia HP:0001559|HP:0007630|HP:0006840|HP:0007631 UMLS:C0235659|SNOMEDCT_US:276369006 human_phenotype owl:Class HP:0004059 biolink:NamedThing Radial club hand Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius. hp0009lx5z UMLS:C4025414 owl:Class HP:0002691 biolink:NamedThing Platybasia A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. hp0009lx5z Flattening of the skull base|Obtuse basal angle of skull base|Increased basal angle of skull base Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the centre of the pituitary fossa line joining the anterior border of the foramen magnum with the centre of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. MSH:D010985|UMLS:C0032209|SNOMEDCT_US:86587003 owl:Class HP:0010878 biolink:NamedThing Fetal cystic hygroma The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. hp0009lx5z Foetal cystic hygroma Upon ultrasound examination, fetal cystic hygroma presents as a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts related to the posterior aspect of the neck. Cystic hygromas can range from increased nuchal translucency to thin-walled cystic masses that may become larger than the fetal head. The cysts may result from a lymphatic abnormality, possibly one caused by absent or inefficient connections between the lymphatic and venous systems. Depending on the site, the cut off may vary from site to site. Lowest would be 2.5 mm and highest 3.5 mm. peter 2010-09-13T08:02:26Z UMLS:C0948242|MSH:C537852 human_phenotype owl:Class HP:0025058 biolink:NamedThing Hypothalamic atrophy Partial or complete wasting (loss) of hypothalamus tissue that was once present. hp0009lx5z Atrophy of the hypothalamus 2016-09-26 09:07:40+00:00 HPO:probinson owl:Class HP:0009790 biolink:NamedThing Hemisacrum A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5. hp0009lx5z peter 2009-02-03T05:21:37Z UMLS:C2677632 human_phenotype owl:Class HP:0032988 biolink:NamedThing Persistent head lag The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. hp0009lx5z Headlag|Head lag During pull-to-sit, the normal response is for an infant to right the head and maintain it in line with the shoulders. Head lag is demonstrated when the head is not righted but lags posteriorly behind the trunk as a result of poor head and neck control. peter owl:Class HP:0012793 biolink:NamedThing Kinked brainstem A kinked appearance of the brainstem, i.e., an exaggerated flexure. hp0009lx5z Kinked brain stem Kinked brainstem is an indicator of severe neurodysgenesis arising early in gestation. This sign can be appreciated in prenatal magnetic resonance imaging. peter 2014-04-25T02:51:49Z UMLS:C4021068 human_phenotype owl:Class HP:0032577 biolink:NamedThing Clonal T cell receptor rearrangement Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone. hp0009lx5z peter owl:Class HP:0410241 biolink:NamedThing Abnormal circulating IgE level An abnormal deviation from normal levels of IgE immunoglobulin in blood. hp0009lx5z Abnormal IgE level in blood 2018-10-12 20:32:27+00:00 owl:Class HP:0007227 biolink:NamedThing Macrogyria Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum. hp0009lx5z SNOMEDCT_US:23024003|UMLS:C0266483|MSH:D054082 human_phenotype owl:Class HP:0011246 biolink:NamedThing Underdeveloped superior crus of antihelix Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. hp0009lx5z Hypoplastic superior crus of antihelix|Hypotrophic superior crus of antihelix This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. peter 2011-12-18T12:00:18Z UMLS:C4021189 human_phenotype owl:Class HP:0008997 biolink:NamedThing Proximal muscle weakness in upper limbs A lack of strength of the proximal muscles of the arms. hp0009lx5z UMLS:C1866012 human_phenotype owl:Class HP:0001756 biolink:NamedThing Vestibular hypofunction Reduced functioning of the vestibular apparatus. hp0009lx5z UMLS:C1848606 human_phenotype owl:Class HP:0011258 biolink:NamedThing Tragal bridge of crus of helix The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix. hp0009lx5z Helix, crus, tragal bridge peter 2011-12-18T05:58:24Z UMLS:C4021182 human_phenotype owl:Class HP:0010041 biolink:NamedThing Short 3rd metacarpal Short third metacarpal bone. hp0009lx5z Short third metacarpals|Hypoplastic 3rd metacarpal|Small 3rd metacarpals|Shortened 3rd long bone of hand doelkens 2009-05-27T04:36:08Z HP:0006074|HP:0006120|HP:0005624 UMLS:C1850631 human_phenotype owl:Class HP:0007131 biolink:NamedThing Acute demyelinating polyneuropathy Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. hp0009lx5z This is a bundled term used to refer to the symptomatology associated with the Guillain-Barre syndrome. UMLS:C4024933 human_phenotype owl:Class HP:0030296 biolink:NamedThing Metaphyseal chondromatosis of radius hp0009lx5z UMLS:C4022529 owl:Class HP:0032567 biolink:NamedThing Lipiduria An increased lipid content in the urine. hp0009lx5z Urinary lipid excretion 2019-06-19 10:35:31+00:00 peter owl:Class HP:0025044 biolink:NamedThing Lung abscess A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity. hp0009lx5z 2016-09-25 14:30:50+00:00 HPO:probinson owl:Class HP:0002676 biolink:NamedThing Cloverleaf skull Trilobar skull configuration when viewed from the front or behind. hp0009lx5z Trilobar cranium shape|Cloverleaf skull shape|Kleeblattschaedel|Trilobar skull shape|Cloverleaf cranium shape A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus. HP:0005459|HP:0004477 UMLS:C4280564|UMLS:C1860050 human_phenotype owl:Class HP:0002614 biolink:NamedThing Hepatic periportal necrosis A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. hp0009lx5z UMLS:C0546389 human_phenotype owl:Class HP:0031232 biolink:NamedThing Increased incisura width Breadth of the incisura from the anterior to posterior border greater than that observed in the average population. hp0009lx5z 2017-07-02 13:02:22+00:00 This aspect may be difficult to assess in instances where the anterior and posterior walls of the incisura are not parallel. peter owl:Class HP:0000033 biolink:NamedThing Ambiguous genitalia, male Ambiguous genitalia in an individual with XY genetic gender. hp0009lx5z Ambiguous genitalia in males UMLS:C4021823 human_phenotype owl:Class HP:0410336 biolink:NamedThing Venom allergy Hypersensitivity in form of an adverse immune reaction against insect venom. hp0009lx5z IgE-mediated venom allergy|Venom allergy|Allergy to venom|Immunoglobulin E-mediated venom allergy owl:Class HP:0200111 biolink:NamedThing Absent stapes head hp0009lx5z sebastiankohler 2013-06-05T12:21:37Z UMLS:C4021888 human_phenotype owl:Class HP:0030643 biolink:NamedThing Vitelliform-like retinal lesions hp0009lx5z UMLS:C4073108 owl:Class HP:0000976 biolink:NamedThing Eczematoid dermatitis hp0009lx5z UMLS:C0013595|SNOMEDCT_US:43116000|MSH:D004485|SNOMEDCT_US:281104002 human_phenotype owl:Class HP:0012413 biolink:NamedThing Notched primary central incisor The presence of a V-shaped indentation (notch) in the primary central incisor. hp0009lx5z Notched front deciduous tooth|Syphilitic primary incisor|Notched front baby tooth|Notched front primary tooth peter 2013-11-10T12:07:34Z SNOMEDCT_US:410500004|UMLS:C1444627|SNOMEDCT_US:86443005|UMLS:C4022912|UMLS:C0020186|MSH:D013590 owl:Class HP:0033656 biolink:NamedThing Juxtaphrenic peak A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament. hp0009lx5z 2021-02-24 13:48:30+00:00 See Figure 32 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0030842 biolink:NamedThing Choking episodes Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. hp0009lx5z UMLS:C4280747 owl:Class HP:0012816 biolink:NamedThing Right ventricular noncompaction cardiomyopathy A predominantly right ventricular variant of isolated noncompaction cardiomyopathy. hp0009lx5z hecht 2014-05-28T08:35:01Z UMLS:C4022714 human_phenotype owl:Class HP:0000900 biolink:NamedThing Thickened ribs Increased thickness (diameter) of ribs. hp0009lx5z UMLS:C0426820|SNOMEDCT_US:249699000 human_phenotype owl:Class HP:0003444 biolink:NamedThing EMG: chronic denervation signs Evidence of chronic denervation on electromyography. hp0009lx5z This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed. HP:0007059 UMLS:C4025614 human_phenotype owl:Class HP:0003445 biolink:NamedThing EMG: neuropathic changes The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). hp0009lx5z EMG: neurogenic changes|EMG: neurogenic findings|EMG: neurogenic abnormalities This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience. HP:0007279|HP:0002547|HP:0002178 UMLS:C4021727 human_phenotype owl:Class HP:0030801 biolink:NamedThing Reduced visual accommodation A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances. hp0009lx5z UMLS:C4280759 owl:Class HP:0030800 biolink:NamedThing Abnormal visual accommodation An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power. hp0009lx5z UMLS:C4280760 owl:Class HP:0032795 biolink:NamedThing Generalized myoclonic-tonic-clonic seizure A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. hp0009lx5z Generalised myoclonic-tonic-clonic seizure|generalized onset myoclonic-tonic-clonic seizure|Generalised onset myoclonic-tonic-clonic seizure|Generalised-onset myoclonic-tonic-clonic seizure|generalised onset myoclonic-tonic-clonic seizure|Generalized-onset myoclonic-tonic-clonic seizure peter owl:Class HP:0003778 biolink:NamedThing Short mandibular rami hp0009lx5z Decreased height of mandibular ramus|Short body and ramus of mandible|Short mandibular ramus|Underdeveloped mandibular rami|Decreased size of mandibular ramus HP:0005447 UMLS:C4280545|UMLS:C1841648 human_phenotype owl:Class HP:0006349 biolink:NamedThing Agenesis of permanent teeth A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. hp0009lx5z Failure of development of secondary teeth|Absent permanent teeth|Failure of development of permanent teeth|Agenesis of secondary dentition|Agenesis of permanent dentition|Absence of permanent teeth|Missing teeth HP:0006287|HP:0000681 SNOMEDCT_US:234948008|UMLS:C0457756|MSH:C563203|SNOMEDCT_US:109444001|UMLS:C1290511 human_phenotype owl:Class HP:0004334 biolink:NamedThing Dermal atrophy Partial or complete wasting (atrophy) of the skin. hp0009lx5z Skin atrophy|Atrophic skin|Skin degeneration peter 2008-03-04T06:24:00Z HP:0001077|HP:0000985 UMLS:C0151514|MEDDRA:10040799|SNOMEDCT_US:400190005|SNOMEDCT_US:399979006 human_phenotype owl:Class HP:0100427 biolink:NamedThing Broad middle phalanx of the 5th toe hp0009lx5z Broad middle bone of the little toe|Broad middle bone of the pinkie toe|Broad middle bone of the pinky toe UMLS:C4022100 human_phenotype owl:Class HP:0010959 biolink:NamedThing Congenital cystic adenomatoid malformation of the lung Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis. hp0009lx5z Cystic adenomatoid lung disease|CCAM|Congenital cystic disease of the lung Congenital cystic adenomatoid malformation (CCAM) results in a multicystic mass that replaces the normal lung structure. CCAM is usually unilateral and confined to a single lobe of the lung. peter 2011-01-18T11:56:02Z HP:0006545|HP:0006540 UMLS:C0010668|SNOMEDCT_US:111318005|MSH:D015615 human_phenotype owl:Class HP:0033389 biolink:NamedThing Bronchopulmonary anastomosis Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries. hp0009lx5z 2021-01-06 12:23:14+00:00 peter owl:Class HP:0007827 biolink:NamedThing Nodular corneal dystrophy hp0009lx5z UMLS:C4024792 human_phenotype owl:Class HP:0011494 biolink:NamedThing Generalized opacification of the cornea Generalized reduced transparency of the stroma of the cornea. hp0009lx5z Generalised opacification of the cornea peter 2012-04-02T10:39:50Z UMLS:C4021147 human_phenotype owl:Class HP:0009214 biolink:NamedThing Absent epiphysis of the middle phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger. hp0009lx5z Absent end part of the middle bone of the ring finger doelkens 2009-01-05T05:23:59Z UMLS:C4024527 human_phenotype owl:Class HP:0009141 biolink:NamedThing Depletion of mitochondrial DNA in muscle tissue hp0009lx5z Depletion of mitochondrial dna in skeletal muscle tissue peter 2008-05-02T12:00:00Z HP:0009070 UMLS:C4021521 human_phenotype owl:Class HP:0000155 biolink:NamedThing Oral ulcer Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. hp0009lx5z Mouth sore|Mouth ulcer|Oral mucosal ulceration SNOMEDCT_US:26284000|MSH:D019226|UMLS:C0149745 human_phenotype owl:Class HP:0010643 biolink:NamedThing Midnasal atresia Absence or abnormal closure of the midnasal cavity. hp0009lx5z doelkens 2009-12-17T05:06:01Z UMLS:C4023762 human_phenotype owl:Class HP:0010644 biolink:NamedThing Midnasal stenosis Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. hp0009lx5z Midnasal atresia or stenosis doelkens 2009-12-17T05:06:01Z HP:0010642 UMLS:C1840238 human_phenotype owl:Class HP:0010417 biolink:NamedThing Osteolytic defects of the distal phalanx of the 2nd toe hp0009lx5z doelkens 2009-07-16T12:44:41Z UMLS:C4023839 human_phenotype owl:Class HP:0200105 biolink:NamedThing Absent fifth toenail hp0009lx5z Absent fifth toenail|Missing fifth toenail sebastiankohler 2013-06-05T12:11:38Z UMLS:C4021892 human_phenotype owl:Class HP:0004421 biolink:NamedThing Elevated systolic blood pressure Abnormal increase in systolic blood pressure. hp0009lx5z Elevated systolic BP Normal systolic blood pressure is less than 120 mmHg in adults. peter 2008-03-18T09:33:00Z HP:0004956 UMLS:C1840374 human_phenotype owl:Class HP:0003205 biolink:NamedThing Curvilinear intracellular accumulation of autofluorescent lipopigment storage material An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. hp0009lx5z 'Curvilinear profiles' ultrastructurally in cells|Curvilinear profiles ultrastructurally|Intracellular curvilinear profiles on ultrastructural analysis|'curvilinear profiles' ultrastructurally UMLS:C1836852 human_phenotype owl:Class HP:0011372 biolink:NamedThing Aplasia of the inner ear Absence of the inner ear due to a developmental defect. hp0009lx5z Labyrinthine aplasia|Absent inner ear|Michel deformity|Aplasia of the labyrinth Aplasia of the inner ear is usually diagnosed on MR or CT imaging. peter 2012-03-07T08:23:52Z SNOMEDCT_US:71973003|UMLS:C0266604 human_phenotype owl:Class HP:0025648 biolink:NamedThing Steroid-sensitive nephrotic syndrome with infrequent relapses A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. hp0009lx5z No biopsy needed. Relapses are treated with steroids according to local protocols. peterrobinson owl:Class HP:0010103 biolink:NamedThing Short distal phalanx of hallux Underdevelopment (hypoplasia) of the distal phalanx of big toe. hp0009lx5z Small distal phalanx of hallux|Small outermost bone of big toe|Hypoplastic/small distal phalanx of the hallux|Small distal phalanx of big toe doelkens 2009-05-29T12:41:37Z UMLS:C4021335 human_phenotype owl:Class HP:0008752 biolink:NamedThing Laryngeal cartilage malformation A malformation of the laryngeal cartilage. hp0009lx5z Vocal impairment, severe, due to laryngeal cartilage abnormalities HP:0008375 UMLS:C4021530 human_phenotype owl:Class HP:0041155 biolink:NamedThing Fractured mandible A partial or complete breakage of the mandible. hp0009lx5z bone mandible owl:Class HP:0001181 biolink:NamedThing Adducted thumb In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. hp0009lx5z Inward turned thumb|Adducted thumbs The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. HP:0005646 UMLS:C3554617 human_phenotype owl:Class HP:0040285 biolink:NamedThing Excluded Present in 0% of the cases. hp0009lx5z Excluded (0%) ORCID:0000-0002-5316-1399 ORPHA:453315 owl:Class HP:0025399 biolink:NamedThing Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree. hp0009lx5z 2017-04-22 13:13:21+00:00 The pattern reflects a spectrum of endobronchiolar and peribronchiolar disorders, including mucoid impaction, inflammation, fibrosis and occasionally endovascular disorders such as neoplastic processes. HPO:probinson owl:Class HP:0100341 biolink:NamedThing Tibial deviation of the 4th toe hp0009lx5z doelkens 2010-11-11T03:41:54Z UMLS:C4022139 human_phenotype owl:Class HP:0003316 biolink:NamedThing Butterfly vertebrae A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. hp0009lx5z Sagittal clefting of vertebrae|Butterfly vertebrae|Anterior rachischisis UMLS:C1844752 owl:Class HP:0010313 biolink:NamedThing Breast hypertrophy The presence of hypertrophy of the breast. hp0009lx5z Macromastia|Large breast|Hypertrophy of the breasts|Gigantomastia|Breast enlargement|Breasts enlarged peter 2009-07-12T02:34:30Z SNOMEDCT_US:372281005|SNOMEDCT_US:372285001|MSH:C536821|UMLS:C0020565|SNOMEDCT_US:372283008|UMLS:C2225524|UMLS:C0392533 human_phenotype owl:Class HP:0011231 biolink:NamedThing Prominent eyelashes Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly. hp0009lx5z Prominent eyelashes|Thick eyelashes peter 2011-12-14T08:31:24Z UMLS:C1835802|UMLS:C4023450 human_phenotype owl:Class HP:0009742 biolink:NamedThing Stiff shoulders Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. hp0009lx5z Stiff shoulders peter 2009-01-31T02:02:05Z UMLS:C0241042|SNOMEDCT_US:249918006 human_phenotype owl:Class HP:0030931 biolink:NamedThing 1-minute APGAR score of 4 hp0009lx5z 2016-11-07 18:16:29+00:00 robinp owl:Class HP:0012764 biolink:NamedThing Orthopnea A sensation of breathlessness in the recumbent position, relieved by sitting or standing. hp0009lx5z hecht 2014-04-06T11:03:04Z SNOMEDCT_US:62744007|UMLS:C0085619 human_phenotype owl:Class HP:0009507 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 2nd finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger. hp0009lx5z Irregular end part of the outermost bone of the index finger doelkens 2009-01-16T01:11:04Z UMLS:C4024323 human_phenotype owl:Class HP:0001043 biolink:NamedThing Prominent scalp veins hp0009lx5z Prominent scalp veins UMLS:C1856542 human_phenotype owl:Class HP:0007812 biolink:NamedThing Herpetiform corneal ulceration The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. hp0009lx5z Dendritic corneal epithelial ulcer|Herpetiform corneal ulcers UMLS:C4020911 human_phenotype owl:Class HP:0100588 biolink:NamedThing Paraphimosis The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis. hp0009lx5z doelkens 2010-12-27T03:13:30Z MSH:D010263|SNOMEDCT_US:13758004|UMLS:C0030483 owl:Class HP:0032389 biolink:NamedThing Periventricular laminar heterotopia A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral. hp0009lx5z 2019-02-24 16:00:54+00:00 peter owl:Class HP:0032233 biolink:NamedThing Increased circulating creatine kinase BB isoform An increased concentration of the BB isoform of creatine kinase in the blood circulation. hp0009lx5z Increased circulating CK BB isoform 2019-01-26 17:11:51+00:00 All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. peter owl:Class HP:0008391 biolink:NamedThing Dystrophic fingernails The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. hp0009lx5z Poor fingernail formation UMLS:C3551426 owl:Class HP:0005348 biolink:NamedThing Inspiratory stridor Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. hp0009lx5z UMLS:C0677600|SNOMEDCT_US:58596002 human_phenotype owl:Class HP:0003881 biolink:NamedThing Humeral sclerosis hp0009lx5z Increased bone density in long bone of upper arm|Sclerosis of humerus UMLS:C4021716 human_phenotype owl:Class HP:0041081 biolink:NamedThing Fractured lower leg Bone fracture anywhere in the tibia, fibula, or ankle. hp0009lx5z Lower extremity fracture|Fracture of the lower leg|Lower limb fracture owl:Class HP:0033458 biolink:NamedThing Elevated urine 4-methyl-2-oxopentanoic acid level Increased amount of 4-methyl-2-oxopentanoic acid in the urine. hp0009lx5z Increased urine alpha-ketoisocaproic acid level 2021-01-09 22:08:13+00:00 peter owl:Class HP:0001915 biolink:NamedThing Aplastic anemia Aplastic anemia is defined as pancytopenia with a hypocellular marrow. hp0009lx5z Aplastic anaemia Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. SNOMEDCT_US:304132006|UMLS:C0002874|SNOMEDCT_US:306058006|MSH:D000741 human_phenotype owl:Class HP:0001876 biolink:NamedThing Pancytopenia An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). hp0009lx5z OBO:hp#uk_spelling|Low blood cell count SNOMEDCT_US:127034005|MSH:D010198|UMLS:C0030312 owl:Class HP:0500087 biolink:NamedThing Peripapillary atrophy Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. hp0009lx5z 2018-03-20 20:01:02+00:00 owl:Class HP:0400002 biolink:NamedThing Extra concha fold Folds or ridges within the concha that are distinct from the crus helix. hp0009lx5z Concha, Extra Fold UMLS:C4020915 owl:Class HP:0012763 biolink:NamedThing Paroxysmal dyspnea A sudden attack of dyspnea that occurs while the affected person is at rest. hp0009lx5z Paroxysmal dyspnoea Paroxysmal nocturnal dyspnea (PND) is a sensation of shortness of breath that awakens the patient, often after 1 or 2 hours of sleep, and is usually relieved in the upright position. hecht 2014-04-06T10:58:39Z MSH:D004418|SNOMEDCT_US:59265000|UMLS:C0013405 human_phenotype owl:Class HP:0012186 biolink:NamedThing Entrapment neuropathy of the ulnar nerve at elbow An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand. hp0009lx5z peter 2013-02-24T09:27:57Z UMLS:C4023008 human_phenotype owl:Class HP:0011274 biolink:NamedThing Recurrent mycobacterial infections Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection. hp0009lx5z Mycobacteria represent a family of slowly growing bacteria, including M. tuberculosis, the agent of tuberculosis, M. leprae, the agent of leprosy, M. avium complex species, and others. Mycobacteria infection can be asymptomatic or not, and are typically difficult to treat with antibiotics. peter 2011-12-28T12:11:54Z UMLS:C4023438 human_phenotype owl:Class HP:0008191 biolink:NamedThing Thyroid agenesis The congenital absence of the thyroid gland. hp0009lx5z Athyroidal hypothyroidism UMLS:C0749420|MSH:D050033|UMLS:C4020805 human_phenotype owl:Class HP:0040234 biolink:NamedThing Factor XIII subunit B deficiency Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. hp0009lx5z Reduced factor XIII, subunit B Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium UMLS:C2750481|MSH:C567688 owl:Class HP:0025064 biolink:NamedThing Thalamic hemorrhage Bleeding in the thalamus. hp0009lx5z Thalamic haemorrhage 2016-09-26 10:03:34+00:00 Thalamic hemorrhage may be observed in individuals with hypertension. In both the acute and chronic phases of bleeding, prominent susceptibility effect, seen as hypointense blooming on sequences, is typically seen upon magnetic resonance imaging. HPO:probinson owl:Class HP:0007733 biolink:NamedThing Laterally curved eyebrow hp0009lx5z UMLS:C1846266 human_phenotype owl:Class HP:0410368 biolink:NamedThing Increased globoside Gb3 level An abnormal increase in the concentration of glycolipid globoside Gb3. hp0009lx5z Increased globoside Gb3 concentration owl:Class HP:0030134 biolink:NamedThing Total absence von Willebrand factor multimers Complete absence of all von Willebrand factor multimers. hp0009lx5z UMLS:C4022614 owl:Class HP:0032202 biolink:NamedThing Vulvar intraepithelial neoplasia Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. hp0009lx5z 2019-01-20 13:31:43+00:00 peter owl:Class HP:0004392 biolink:NamedThing Prune belly A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants. hp0009lx5z Prune belly Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles. peter 2008-03-18T09:08:00Z SNOMEDCT_US:5187006|UMLS:C0033770|MSH:D011535 human_phenotype owl:Class HP:0030251 biolink:NamedThing Absence of memory B cells Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. hp0009lx5z UMLS:C4022559 owl:Class HP:0010976 biolink:NamedThing B lymphocytopenia An abnormal decrease from the normal count of B cells. hp0009lx5z B cell deficiency|Low B cell count|Decreased B cell count|Reduction in B cell number|B cell lymphopenia Plasma B cells differentiate from B cells and secrete large amounts of antibodies. peter 2011-02-06T09:44:11Z HP:0002956 UMLS:C1855067 owl:Class HP:0003318 biolink:NamedThing Cervical spine hypermobility hp0009lx5z Cervical spine joint hypermobility UMLS:C0574967|SNOMEDCT_US:298186005 owl:Class HP:0031227 biolink:NamedThing Nasopharyngeal teratoma A teratoma arising in the nasopharyngeal region. hp0009lx5z 2017-07-02 12:40:40+00:00 Nasopharyngeal teratoma is histologically benign, but can cause considerable morbidity and mortality because of the location. Nasopharyngeal teratoma represents one of the most unusual causes of respiratory distress during the neonatal period. peter owl:Class HP:0033431 biolink:NamedThing Cytomegalovirus colitis A form of cytomegalovirus infection characterized by infection and inflammation of the colon. hp0009lx5z CMV colitis 2021-01-09 17:55:07+00:00 Patients with CMV colitis present with non-specific symptoms, including diarrhea, abdominal pain, fever, rectal bleeding, and weight loss. Hematochezia and diarrhea are the most frequently observed symptoms in these patients. Cytomegalovirus colitis occurs most commonly in immunocompromised hosts, including acquired immunodeficiency syndrome (AIDS), organ transplantation, hematological malignancy, cancer therapy, and corticosteroid therapy. peter owl:Class HP:0100557 biolink:NamedThing Hemiatrophy of lower limb Unilateral atrophy (reduction in size) of a leg. hp0009lx5z Asymmetric lower limb shortening doelkens 2010-12-21T04:01:28Z SNOMEDCT_US:709411004|UMLS:C0431934 human_phenotype owl:Class HP:0100559 biolink:NamedThing Lower limb asymmetry A difference in length or diameter between the left and right leg. hp0009lx5z Leg length discrepancy|Left and right leg differ in length or width doelkens 2010-12-21T04:04:27Z MSH:D007870|UMLS:C0023221|SNOMEDCT_US:45939007 human_phenotype owl:Class HP:0004319 biolink:NamedThing Decreased circulating aldosterone level Abnormally reduced levels of aldosterone. hp0009lx5z Decreased aldosterone production|Mineralocorticoid insufficiency|Decreased aldosterone|Decreased serum aldosterone|Low blood aldosterone level|Hypoaldosteronism Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis. peter 2008-02-25T10:45:00Z HP:0000355|HP:0002924|HP:0008184|HP:0008190 UMLS:C1846226|UMLS:C0020595|MSH:D006994|UMLS:C0857899|SNOMEDCT_US:60086000 human_phenotype owl:Class HP:0033397 biolink:NamedThing Bowman-space proteinaceous debris The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. hp0009lx5z 2021-01-09 14:24:54+00:00 peter owl:Class HP:0032325 biolink:NamedThing Lacunar stroke A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. hp0009lx5z 2019-02-14 11:57:13+00:00 peter owl:Class HP:0002140 biolink:NamedThing Ischemic stroke Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. hp0009lx5z Ischaemic stroke UMLS:C0948008|SNOMEDCT_US:422504002 owl:Class HP:0010607 biolink:NamedThing Hordeolum externum Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling. hp0009lx5z sandra1 2009-10-27T11:33:07Z SNOMEDCT_US:1489008|UMLS:C0019919 human_phenotype owl:Class HP:0010606 biolink:NamedThing Hordeolum An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling. hp0009lx5z Stye of eyelid|Red bump on eyelid sandra1 2009-10-27T11:01:13Z UMLS:C4280376|SNOMEDCT_US:397513003|SNOMEDCT_US:1489008|UMLS:C0019917|MSH:D006726 human_phenotype owl:Class HP:0030874 biolink:NamedThing Oxygen desaturation on exertion Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. hp0009lx5z O2 desaturation on exertion UMLS:C4280731 owl:Class HP:0025480 biolink:NamedThing Lipomyelomeningocele A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft. hp0009lx5z 2017-05-14 13:52:18+00:00 HPO:probinson owl:Class HP:0030908 biolink:NamedThing Liver kidney microsome type 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2). hp0009lx5z Anti-LKM-1 positive LKM1 is conventionally detected by immunofluorescence (IFL), a subjective technique, using rat liver, kidney, and stomach as a composite substrate. owl:Class HP:0040267 biolink:NamedThing Distal upper limb muscle hypertrophy hp0009lx5z UMLS:C4280685 owl:Class HP:0000740 biolink:NamedThing Episodic paroxysmal anxiety Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable. hp0009lx5z An anxiety attack may manifest with one or more of the following symptoms: (i) breathing difficulty; (ii) palpitations; (iii) a feeling of unreality; (iv) pains or tightness in the chest; (v) trembling, dizziness or feeling unsteady; (vi) sweating; (vii) a feeling of faintness; (viii) a fear of dying; (ix) a feeling of losing control; (x) tingling in hands and feet (parasthesiae); (xi) choking or smothering feelings. UMLS:C1854339 human_phenotype owl:Class HP:0000739 biolink:NamedThing Anxiety Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. hp0009lx5z Anxiety disease|Anxiousness|Excessive, persistent worry and fear|Anxiety UMLS:C4020884|UMLS:C0003467|SNOMEDCT_US:48694002|MSH:D001007 owl:Class HP:0008529 biolink:NamedThing Absence of acoustic reflex Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. hp0009lx5z Absence of acoustic middle ear muscle reflexes|Absent middle ear reflexes Note that the acoustic reflex is also referred to as stapedius reflex, attenuation reflex, or auditory reflex. HP:0008595 UMLS:C1832834 human_phenotype owl:Class HP:0040121 biolink:NamedThing Abnormality of the acoustic reflex An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation. hp0009lx5z Abnormality of stapedial reflex|Abnormal middle-ear-muscles (MEM) reflex|Abnormal auditory reflex HPO:skoehler UMLS:C4022426 owl:Class HP:0025650 biolink:NamedThing Steroid-dependent nephrotic syndrome A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. hp0009lx5z SDNS Biopsy is necessary to determine underlying histology. Treatment with levamisole or immunosuppression (e.g. calcineurin inhibitors, cyclophosphamide or mycophenolat mofetil) in order to reduce steroid toxicity. peterrobinson owl:Class HP:0010805 biolink:NamedThing Upturned corners of mouth Oral commissures positioned superior to the midline labial fissure. hp0009lx5z Upturned oral commisures|Upturned mouth|Upturned corners of mouth This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged. peter 2010-06-26T03:17:08Z UMLS:C3553471 human_phenotype owl:Class HP:0008031 biolink:NamedThing Posterior Y-sutural cataract A type of sutural cataract in which the opacity follows the posterior Y suture. hp0009lx5z Posterior Y-sutural cataracts UMLS:C4021560 human_phenotype owl:Class HP:0010695 biolink:NamedThing Sutural cataract A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. hp0009lx5z During lens terminal differentiation, the originally cuboidal lens vesicle cells elongate into long fiber-like cells, or fibers. Y-shaped sutures form because of how the lens epithelial cells proliferate during formation. The Y sutures demarcate the boundaries between the lens cortex, which is peripheral to the Y sutures, and the lens nucleus, which is within and includes the Y sutures. The anterior Y suture is oriented upright, and the posterior Y suture is inverted. peter 2010-03-20T12:07:04Z UMLS:C4023734 human_phenotype owl:Class HP:0030434 biolink:NamedThing Pilomatrixoma Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. hp0009lx5z Pilomatricomas usually are asymptomatic (pain appears only with associated inflammation and ulceration); deeply seated, firm, nontender subcutaneous masses adherent to the skin but not fixed to the underlying tissue. Stretching of the skin over the tumor shows the "tent sign" with multiple facets and angles, a pathognomonic sign for pilomatricoma. In addition, pressing on one edge of the lesion causes the opposite edge to protrude from the skin like a "teeter-totter". Both these "tent sign" and "teeter-totter sign" are the most helpful clinical clues to the diagnosis of pilomatricoma. MSH:D018296|UMLS:C0206711|SNOMEDCT_US:44155009|SNOMEDCT_US:274901004 owl:Class HP:0032028 biolink:NamedThing Macular dots Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. hp0009lx5z 2018-09-01 14:44:49+00:00 peter owl:Class HP:0032345 biolink:NamedThing Elevated cancer Ag 19-9 level An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation. hp0009lx5z 2019-02-21 13:26:41+00:00 CA 19-9 is also referred to as sialyl Lewis-a (sLea). It is expressed on the surface of cancer cells as a glycolipid and as an O-linked glycoprotein. Subsequently, CA 19-9 was also identified in the tissue and sera of patients with other gastrointestinal tumors including esophageal, gastric, biliary and pancreatic cancer. CA 19-9 is derived from an aberrant pathway during production of its normal counterpart disialyl Lewis-a which has one extra sialic acid residue attached through a 2-to-6 linkage. Disialyl Lewis-a is normally expressed on the epithelial surface of digestive organs, serves as a ligand for monocytes and macrophages, and helps in immunosurveillance. Epigenetic silencing of the gene for 2-to-6 sialyl transferase during early stages of carcinogenesis leads to abnormal synthesis and accumulation of sialyl Lewis-a (CA 19-9). peter owl:Class HP:0011979 biolink:NamedThing Elevated urinary dopamine An increased concentration of dopamine in the urine. hp0009lx5z Elevated urinary dopamine peter 2012-07-18T09:13:16Z UMLS:C4023099 human_phenotype owl:Class HP:0030398 biolink:NamedThing Abnormal platelet ATP dense granule secretion Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP). hp0009lx5z UMLS:C4072931 owl:Class HP:0003273 biolink:NamedThing Hip contracture hp0009lx5z Hip contractures|Flexion contracture of hips|Hip flexion contractures|Flexion contractures of hips UMLS:C0409354|SNOMEDCT_US:202283002 human_phenotype owl:Class HP:0025078 biolink:NamedThing Electrical alternans The QRS complexes of the electrocardiogram alternate in height. hp0009lx5z 2016-09-26 10:52:41+00:00 HPO:probinson owl:Class HP:0002305 biolink:NamedThing Athetosis A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. hp0009lx5z Involuntary writhing movements|Involuntary writhing movements in fingers, hands, toes, and feet|Athetoid movements Athetosis derives from the Greek word for 'changeable' or 'unfixed'. HP:0007316|HP:0007167 UMLS:C1845265|SNOMEDCT_US:58593005|MSH:D001264|UMLS:C0004158|SNOMEDCT_US:44913001 owl:Class HP:0011719 biolink:NamedThing Supracardiac total anomalous pulmonary venous connection Type 1 total anomalous pulmonary venous connection. hp0009lx5z Type 1 total anomalous pulmonary venous connection|Supracardiac total anomalous pulmonary venous connexion|Total anomalous pulmonary venous connection, supracardiac peter 2012-04-11T08:50:39Z UMLS:C4021131|Fyler:0910|Fyler:910 human_phenotype owl:Class HP:0100896 biolink:NamedThing Rectal polyposis The presence of multiple rectal hyperplastic/adenomatous polyps. hp0009lx5z Multiple rectal polyps|Rectal polyps doelkens 2011-12-01T05:33:49Z HP:0100897 SNOMEDCT_US:39772007|UMLS:C0034887 human_phenotype owl:Class HP:0032564 biolink:NamedThing Ileitis Inflammation of the ileum. hp0009lx5z Inflammation of the ileum 2019-06-19 10:14:03+00:00 Ileitis may present acutely with right lower quadrant pain and/or diarrhea, or with chronic obstructive symptoms and bleeding. peter owl:Class HP:0008436 biolink:NamedThing Absent/hypoplastic coccyx hp0009lx5z Absent/underdeveloped tailbone|Absent/small tailbone UMLS:C1856644 human_phenotype owl:Class HP:0005825 biolink:NamedThing Mixed sclerosis of humeral metaphyses hp0009lx5z UMLS:C4025128 human_phenotype owl:Class HP:0100945 biolink:NamedThing Sclerosis of the 1st metatarsal hp0009lx5z Increased bone density in the 1st long bone of foot UMLS:C4021913 human_phenotype owl:Class HP:0006330 biolink:NamedThing Rotated maxillary central incisors hp0009lx5z Rotated upper central incisors|Twisted upper front teeth|Rotated upper front teeth|Turned upper front teeth UMLS:C4025063 human_phenotype owl:Class HP:0033250 biolink:NamedThing Nailfold capillary tortuosity An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels. hp0009lx5z 2020-11-25 14:19:32+00:00 peter owl:Class HP:0031957 biolink:NamedThing Spastic hemiparetic gait Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster. hp0009lx5z Wernicke-Mann gait 2018-07-07 14:01:46+00:00 peter owl:Class HP:0002064 biolink:NamedThing Spastic gait Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. hp0009lx5z Spastic walk MSH:D020233|UMLS:C0231687|SNOMEDCT_US:9447003 human_phenotype owl:Class HP:0012651 biolink:NamedThing Abasia A severe form of gait ataxia such that an affected person cannot walk at all. hp0009lx5z peter 2014-02-06T07:52:50Z UMLS:C0877217 human_phenotype owl:Class HP:0012265 biolink:NamedThing Ciliary dyskinesia A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. hp0009lx5z Typically, but not always, dyskinesia is characterized by markedly attenuated ciliary beat frequency. peter 2013-04-07T10:14:07Z MSH:D002925|UMLS:C0008780|SNOMEDCT_US:86204009 human_phenotype owl:Class HP:0005013 biolink:NamedThing Dysplastic distal radial epiphyses Abnormally developed (dysplastic) distal epiphysis of the radius. hp0009lx5z UMLS:C1862131 human_phenotype owl:Class HP:0009211 biolink:NamedThing Small epiphysis of the middle phalanx of the 5th finger Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. hp0009lx5z Small end part of the middle bone of the pinkie finger|Small end part of the middle bone of the little finger|Small end part of the middle bone of the pinky finger doelkens 2009-01-05T05:22:18Z UMLS:C4024529 human_phenotype owl:Class HP:0012282 biolink:NamedThing Morbilliform rash An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. hp0009lx5z A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas. peter 2013-04-07T10:11:58Z SNOMEDCT_US:50495000|UMLS:C0234918|SNOMEDCT_US:247470007 owl:Class HP:0006206 biolink:NamedThing Hypersegmentation of proximal phalanx of second finger Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. hp0009lx5z This anomaly is characteristic for brachydactyly type C. UMLS:C4025080 human_phenotype owl:Class HP:0007553 biolink:NamedThing Congenital symmetrical palmoplantar keratosis hp0009lx5z UMLS:C1855459 owl:Class HP:0011868 biolink:NamedThing Sciatica Pain in the lower back and hip radiating in the distribution of the sciatic nerve. hp0009lx5z peter 2012-05-28T10:34:09Z UMLS:C0036396|SNOMEDCT_US:23056005|MSH:D012585 human_phenotype owl:Class HP:0006192 biolink:NamedThing Tapered phalanx of finger Phalanges of the fingers becoming thinner toward the distal end. hp0009lx5z Tapered finger bone UMLS:C4025084 human_phenotype owl:Class HP:0410376 biolink:NamedThing Increased proportion of naive CD8 T cells An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells. hp0009lx5z Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells|Elevated proportion of naive CD8 T cells owl:Class HP:0008303 biolink:NamedThing Olivary degeneration Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata. hp0009lx5z UMLS:C4024707 human_phenotype owl:Class HP:0031738 biolink:NamedThing Mechanical entropion A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. hp0009lx5z 2018-01-21 13:42:52+00:00 peter owl:Class HP:0004009 biolink:NamedThing Medially sloping radial epiphyses hp0009lx5z UMLS:C4025448 human_phenotype owl:Class HP:0002558 biolink:NamedThing Supernumerary nipple Presence of more than two nipples. hp0009lx5z Supernumerary nipples|Accessory nipples|Accessory nipple|accessory mamillas|accessory mamilla|Increased nipple number HP:0002559 MSH:C562557|Fyler:4234|SNOMEDCT_US:50956007|UMLS:C0266011 human_phenotype owl:Class HP:0007560 biolink:NamedThing Unusual dermatoglyphics hp0009lx5z UMLS:C4024846 human_phenotype owl:Class HP:0005424 biolink:NamedThing Absent specific antibody response Absence of specific immunoglobulins directed against a specific antigen or microorganism. hp0009lx5z UMLS:C1863246 human_phenotype owl:Class HP:0002357 biolink:NamedThing Dysphasia hp0009lx5z MSH:D001037|UMLS:C0973461|SNOMEDCT_US:20301004 owl:Class HP:0003654 biolink:NamedThing Reduced dihydropyrimidine dehydrogenase level An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level. hp0009lx5z Dihydropyrimidine dehydrogenase deficiency Pyrimidine 5-prime nucleotidase catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates to the corresponding nucleosides. MSH:D054067|UMLS:C1959620|UMLS:C4025582|SNOMEDCT_US:77365006 human_phenotype owl:Class HP:0002657 biolink:NamedThing Spondylometaphyseal dysplasia hp0009lx5z SNOMEDCT_US:702350003|MSH:C537501|UMLS:C0700635 human_phenotype owl:Class HP:0005608 biolink:NamedThing Bilobate gallbladder The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium. hp0009lx5z Bilobed gallbladder|Double gallbladder|Gallbladder duplication During the fifth or early sixth embryonic week, occasionally, the gallbladder primordium bifurcates and results in duplication of gallbladder. Duplication results from a split primordium whilst a true accessory gallbladder results from an extra primordium. There are no specific symptoms or signs associated with multiple gallbladders. UMLS:C1846422 human_phenotype owl:Class HP:0410287 biolink:NamedThing Intrathoracic hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region. hp0009lx5z Chest hemangioma 2019-01-09 20:07:18+00:00 owl:Class HP:0025013 biolink:NamedThing Decerebrate rigidity A type of rigidity that is manifested by an exaggerated extensor posture of all extremities. hp0009lx5z Decerebrate posturing 2016-08-09 11:43:43+00:00 Decerebrate rigidity results from release of vestibular nuclei from cerebral control because of a brainstem lesion (i.e., decerebration). HPO:probinson owl:Class HP:0031153 biolink:NamedThing Membranous vitreous appearance Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. hp0009lx5z Membranous vitreous|Membranous anomaly|Membranous vitreous phenotype 2017-06-18 13:16:01+00:00 peter owl:Class HP:0011722 biolink:NamedThing Mixed total anomalous pulmonary venous connection Type 4 total anomalous pulmonary venous connection. hp0009lx5z Type 4 total anomalous pulmonary venous connection|Total anomalous pulmonary venous connection, mixed|Mixed total anomalous pulmonary venous connexion peter 2012-04-11T08:53:37Z UMLS:C4021128|Fyler:950|Fyler:0950 human_phenotype owl:Class HP:0030185 biolink:NamedThing Isometric tremor An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). hp0009lx5z Dystonia tremor UMLS:C4022594|UMLS:C4280303 owl:Class HP:0041093 biolink:NamedThing Beau's lines A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease. hp0009lx5z Ladder nail sign|Ladder nail|Beau lines owl:Class HP:0012256 biolink:NamedThing Absent outer dynein arms Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. hp0009lx5z peter 2013-04-07T09:35:55Z UMLS:C4022989 human_phenotype owl:Class HP:0031430 biolink:NamedThing Oligoclonal T cell expansion The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones. hp0009lx5z 2017-09-16 12:00:57+00:00 peter owl:Class HP:0040263 biolink:NamedThing Jaw ankylosis hp0009lx5z Difficulty opening mouth SNOMEDCT_US:285466001|UMLS:C0563350|UMLS:C4280688 owl:Class HP:0000457 biolink:NamedThing Depressed nasal ridge Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. hp0009lx5z Flat dorsum of nose|Retruded dorsum of nose|Recessed nasal dorsum|Recessed nasal ridge|Flat nose|Flat nasal dorsum|Recessed dorsum of nose|Retruded nasal dorsum|Retruded nasal ridge|Depressed nasal dorsum|Depressed dorsum of nose The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately. UMLS:C1842876 human_phenotype owl:Class HP:0008187 biolink:NamedThing Absence of secondary sex characteristics No secondary sexual characteristics are present at puberty. hp0009lx5z No secondary sexual characteristics at puberty HP:0008674 UMLS:C4021551 human_phenotype owl:Class HP:0012038 biolink:NamedThing Corneal guttata Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. hp0009lx5z Corneal endothelial guttata Corneal guttata are often observed in elderly people and are known to be associated with Fuchs corneal endothelial dystrophy, and also with trauma, congenital glaucoma, and macular dystrophy. peter 2012-07-27T02:06:24Z UMLS:C0271288|SNOMEDCT_US:373424008 human_phenotype owl:Class HP:0007843 biolink:NamedThing Attenuation of retinal blood vessels hp0009lx5z Narrowing of blood vessels in back of eye UMLS:C3278975 human_phenotype owl:Class HP:0032416 biolink:NamedThing Retinal microaneurysm A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells. hp0009lx5z 2019-02-26 13:58:30+00:00 A microaneurysm may be a focal bulge or have a saccular, fusiform, or mixed appearance. Multiple microaneurysm may be observed in the fundus. peter owl:Class HP:0033159 biolink:NamedThing Reduced urinary inosine level Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. hp0009lx5z 2020-09-24 09:10:03+00:00 peter owl:Class HP:0012851 biolink:NamedThing Colonic stenosis A narrowing of a segment of colon whereby bowel continuity is maintained. hp0009lx5z Narrowing of the colon|Stenosis of the colon hecht 2014-06-07T09:22:41Z UMLS:C0267466|SNOMEDCT_US:8543007|SNOMEDCT_US:19132000 human_phenotype owl:Class HP:0001821 biolink:NamedThing Broad nail Increased width of nail. hp0009lx5z Broad fingernails|Wide fingernails|Broad nail HP:0008406 UMLS:C1843112 human_phenotype owl:Class HP:0009927 biolink:NamedThing Aplasia of the nose Complete absence of all nasal structures. hp0009lx5z Absent nose|Failure of development of nose|Underdevelopment of nose|Nasal underdevelopment|Missing nose|Arrhinia peter 2009-05-05T06:44:57Z SNOMEDCT_US:111317000|UMLS:C4280391|UMLS:C0265740|MSH:C537438 human_phenotype owl:Class HP:0001093 biolink:NamedThing Optic nerve dysplasia The presence of developmental dysplasia of the optic nerve. hp0009lx5z UMLS:C2676026 human_phenotype owl:Class HP:0410246 biolink:NamedThing Increased circulating IgD level An abnormally increased level of immunoglobulin D in blood. hp0009lx5z IgD hypergammaglobulinemia|Increased levels of IgD|Increased IgD level|Elevated serum IgD|Elevated IgD|Increased serum IgD 2018-10-12 20:43:48+00:00 owl:Class HP:0004478 biolink:NamedThing Ethmoidal encephalocele hp0009lx5z UMLS:C1843495 human_phenotype owl:Class HP:0011817 biolink:NamedThing Basal encephalocele Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares. hp0009lx5z The skull base is made up of the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. peter 2012-04-29T09:14:34Z UMLS:C4023176 human_phenotype owl:Class HP:0031333 biolink:NamedThing Myocardial sarcomeric disarray A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. hp0009lx5z Myocardial sarcomere disarray 2017-08-27 13:11:25+00:00 peter owl:Class HP:0033642 biolink:NamedThing Mitral valve leaflet calcification Deposition of calcium salts in the leaflets (cusps) of the mitral valve. hp0009lx5z 2021-02-03 13:41:58+00:00 peter owl:Class HP:0000736 biolink:NamedThing Short attention span Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder. hp0009lx5z Poor attention span|Easily distracted|Problem paying attention|Short attention span UMLS:C0262630|SNOMEDCT_US:247762003 human_phenotype owl:Class HP:0500204 biolink:NamedThing Decreased CSF arginine concentration Abnormally decreased levels of arginine in cerebrospinal fluid. hp0009lx5z Low arginine levels in cerebrospinal fluid 2019-02-25 17:12:54+00:00 owl:Class HP:0010654 biolink:NamedThing Aplasia of the falx cerebri A developmental defect characterized by aplasia of the Falx cerebri. hp0009lx5z Absent cerebral falx peter 2010-02-25T10:35:26Z UMLS:C4023756 human_phenotype owl:Class HP:0010653 biolink:NamedThing Abnormality of the falx cerebri An abnormality of the Falx cerebri. hp0009lx5z Abnormality of the cerebral falx The falx cerebri refers to the fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres. peter 2010-02-25T10:32:52Z UMLS:C4021247 human_phenotype owl:Class HP:0032963 biolink:NamedThing Complex renal cyst A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. hp0009lx5z peter owl:Class HP:0007159 biolink:NamedThing Fluctuations in consciousness hp0009lx5z UMLS:C1851959 human_phenotype owl:Class HP:3000072 biolink:NamedThing Abnormal levator palpebrae superioris morphology An abnormality of a levator palpebrae superioris. hp0009lx5z vasilevs 2015-08-07T03:38:57Z UMLS:C4073279 human_phenotype owl:Class HP:0032339 biolink:NamedThing Polyclonal elevation of circulating IgE A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis. hp0009lx5z 2019-02-18 14:16:50+00:00 peter owl:Class HP:0009656 biolink:NamedThing Symphalangism of the thumb Congenital fusion (ankylosis) of the interphalangeal joint of the thumb. hp0009lx5z Fused thumb phalanges|Symphalangism of the distal and proximal phalanges of the thumb|Fused thumb bones Symphalangism is caused by a failure of segmentation that occurs during early fetal development. doelkens 2009-01-29T05:29:26Z HP:0004068|HP:0009639|HP:0009647 UMLS:C1834032 human_phenotype owl:Class HP:0030707 biolink:NamedThing Unilateral lung agenesis Lack of development of one lung. hp0009lx5z Unilateral pulmonary agenesis UMLS:C4082952|MSH:C562992 owl:Class HP:0011735 biolink:NamedThing Adrenocorticotropin deficient adrenal insufficiency Adrenal insufficiency secondary to a defect in ACTH production. hp0009lx5z ACTH deficient adrenal insufficiency peter 2012-04-21T09:06:46Z UMLS:C4023211 human_phenotype owl:Class HP:0011773 biolink:NamedThing Uninodular goiter Enlargement of the thyroid gland related to a singular nodule in the thyroid gland. hp0009lx5z Uninodular goitre peter 2012-04-22T05:56:30Z UMLS:C0342205|SNOMEDCT_US:237569006 human_phenotype owl:Class HP:0100730 biolink:NamedThing Bronchogenic cyst A rare congenital cystic lesion of the lungs in the mediastinum. hp0009lx5z Bronchogenic cysts (BCs) are congenital lesions thought to result from abnormal budding of the embryonic foregut. The most frequent symptoms are pain, cough, fever, respiratory distress, or dyspnea. Intrapulmonary bronchogenic cysts are usually sharply defined, solitary, non-calcified, round, or oval opacities confined to a single lobe. These can present as a homogeneous water density, an air- filled cyst, or with an air-fluid level. The cyst can rupture into the trachea, pericardial cavity, or pleural cavity. Infection of the cyst may lead to surrounding acinar shadow. An air-filled cyst or one with an air-fluid level may be present if a complicating tracheo-bronchial connection develops. doelkens 2011-06-06T05:01:27Z SNOMEDCT_US:9550003|SNOMEDCT_US:268194008|UMLS:C0006281|MSH:D001994 human_phenotype owl:Class HP:0100858 biolink:NamedThing Dilatation of celiac artery Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. hp0009lx5z Celiac artery aneurysm|Dilatation of coeliac artery|Coeliac artery aneurysm Aneurysm is considered a severe form of dilatation. doelkens 2011-11-30T10:07:35Z UMLS:C0264969|SNOMEDCT_US:111290000 human_phenotype owl:Class HP:0003113 biolink:NamedThing Hypochloremia An abnormally decreased chloride concentration in the blood. hp0009lx5z Low blood chloride levels UMLS:C0085680|SNOMEDCT_US:10399008|UMLS:C0595901 human_phenotype owl:Class HP:0006280 biolink:NamedThing Chronic pancreatitis A chronic form of pancreatitis. hp0009lx5z Chronic pancreas inflammation SNOMEDCT_US:234689009|UMLS:C0149521|MSH:D050500|SNOMEDCT_US:235494005|SNOMEDCT_US:233870001 human_phenotype owl:Class HP:0010635 biolink:NamedThing Partial hyposmia Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). hp0009lx5z peter 2009-12-06T07:54:13Z UMLS:C4023765 owl:Class HP:0006801 biolink:NamedThing Hyperactive deep tendon reflexes hp0009lx5z HP:0007259 UMLS:C1846176 human_phenotype owl:Class HP:0010149 biolink:NamedThing Absent epiphysis of the 1st metatarsal Failure to form (agenesis) of the epiphysis of the 1st metatarsal. hp0009lx5z Absent end part of the 1st long bone of foot doelkens 2009-05-29T01:24:17Z UMLS:C4024010 human_phenotype owl:Class HP:0032965 biolink:NamedThing Interstitial emphysema Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts. hp0009lx5z peter owl:Class HP:0011434 biolink:NamedThing Low maternal serum chorionic gonadotropin An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. hp0009lx5z Low maternal serum hCG Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. peter 2012-03-17T07:48:26Z UMLS:C4021149 human_phenotype owl:Class HP:0006587 biolink:NamedThing Straight clavicles An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . hp0009lx5z Straight collarbone UMLS:C4025016 human_phenotype owl:Class HP:0032192 biolink:NamedThing Hydatidiform mole Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast. hp0009lx5z 2019-01-19 12:26:05+00:00 The hydatidiform mole (HM) is a placental pathology of androgenetic origin. Placental villi have an abnormal hyperproliferation event and hydropic degeneration. Three situations can be envisaged at its origin: 1. The destruction/expulsion of the female pronucleus at the time of fertilization by 1 or 2 spermatozoa with the former being followed by an endoreplication of the male pronucleus leading to a complete hydatidiform mole (CHM) 2. A triploid zygote (fertilization by 2 spermatozoa) leading to a partial hydatidiform mole (PHM) but can also lead to haploid and diploid clones. The diploid clone may produce a normal fetus while the haploid clone after endoreplication generates a CHM 3. A nutritional defect during the differentiation of the oocytes or the deterioration of the limited oxygen pressure during the first trimester of gestation may lead to the formation of a HM. peter owl:Class HP:0030641 biolink:NamedThing Incomplete congenital stationary night blindness hp0009lx5z UMLS:C4073107 owl:Class HP:0033867 biolink:NamedThing Multilamellation of medullary peritubular capillary basement membranes Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. hp0009lx5z Multilamellation of basement membranes within medullary peritubular capillaries 2021-06-23 19:02:46+00:00 peter owl:Class HP:0012678 biolink:NamedThing Iron accumulation in substantia nigra An anomalous build up of iron (Fe) in the substantia nigra. hp0009lx5z hecht 2014-03-13T07:29:54Z UMLS:C4022785 human_phenotype owl:Class HP:0033672 biolink:NamedThing Positive carpal Tinel sign The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve. hp0009lx5z Positive carpal Hoffmann Tinel sign 2021-02-28 15:02:26+00:00 Carpal tunnel syndrome is the most common entrapment neuropathy. The pain and paresthesias characterizing carpal tunnel syndrome are typically along the distribution of the median nerve (i.e., thumb, index finger, and middle finger). At times, these symptoms may occur in all the fingers, but should not occur in the dorsum or palm of the hand. peter owl:Class HP:0032563 biolink:NamedThing Dacryocytosis Presence of teardrop-shaped red blood cells. hp0009lx5z Tear-drop shaped erythrocytes|Dacryocytes 2019-06-15 00:47:45+00:00 peter owl:Class HP:0031967 biolink:NamedThing Cloudy urine The appearance of the urine having visible material in suspension, i.e., appearing cloudy. hp0009lx5z Turbid urine 2018-07-07 23:20:18+00:00 Cloudy appearance of urine may be related to the presence of bacteria, blood, sperm, crystals, or mucus. peter owl:Class HP:0006097 biolink:NamedThing 3-4 finger syndactyly Syndactyly with fusion of fingers three and four. hp0009lx5z Webbed 3rd-4th fingers|Partial or complete syndactyly 3rd-4th fingers|Webbed 3rd-4th finger HP:0006133 UMLS:C1856889 human_phenotype owl:Class HP:0030028 biolink:NamedThing Absent nasal cartilage Lack of a palpable nasal cartilage. hp0009lx5z Absent cartilage of nose|Agenesis of nasal cartilage|Absent nasal cartilage|Missing cartilage of nose|Failure of development of cartilage of nose|Missing nasal cartilage|Agenesis of cartilage of nose|Failure of development of nasal cartilage This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately. UMLS:C4022669|MSH:C562753|SNOMEDCT_US:232381002|UMLS:C4082198 owl:Class HP:0030027 biolink:NamedThing Abnormality of the nasal cartilage A morphological anomaly of the nasal cartilage. hp0009lx5z Malformation of nasal cartilage|Deformity of cartilage of nose|Abnormality of cartilage of nose|Deformity of nasal cartilage|Anomaly of cartilage of nose|Anomaly of nasal cartilage|Malformation of cartilage of nose|Abnormality of the nasal cartilage UMLS:C4022670 owl:Class HP:0007792 biolink:NamedThing Microsaccadic pursuit hp0009lx5z UMLS:C1843892 human_phenotype owl:Class HP:0001152 biolink:NamedThing Saccadic smooth pursuit An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. hp0009lx5z Saccadic slow pursuit|Saccadic pursuit movements Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. HP:0000530 UMLS:C1836479 human_phenotype owl:Class HP:0040190 biolink:NamedThing White scaling skin hp0009lx5z White scaling skin|White scaly skin UMLS:C4073146 owl:Class HP:0032008 biolink:NamedThing Pulmonary fat embolism The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung. hp0009lx5z Fat embolism 2018-07-17 13:39:35+00:00 peter owl:Class HP:0005435 biolink:NamedThing Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. hp0009lx5z Impaired T cell function|T-cell dysfunction HP:0002844|HP:0005409|HP:0005383|HP:0005373 UMLS:C1860127 human_phenotype owl:Class HP:0003646 biolink:NamedThing Bicarbonaturia Abnormally increased concentration of hydrogencarbonate in the urine. hp0009lx5z Increased urine HCO3 concentration|Increased urine bicarbonate concentration UMLS:C1839865 human_phenotype owl:Class HP:0003756 biolink:NamedThing Skeletal myopathy hp0009lx5z SNOMEDCT_US:75047002|UMLS:C1533847 human_phenotype owl:Class HP:0025262 biolink:NamedThing Stiff hip A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity. hp0009lx5z Stiff hip|Hip stiffness 2016-12-18 01:15:11+00:00 HPO:probinson owl:Class HP:0500090 biolink:NamedThing Periocular capillary hemangioma A capillary hemangioma surrounding the eyeball but within the orbit. hp0009lx5z Peri-ocular capillary hemangioma 2018-03-27 14:45:09+00:00 owl:Class HP:0002928 biolink:NamedThing Decreased activity of the pyruvate dehydrogenase complex hp0009lx5z Decreased activity of the PDH complex|Pyruvate dehydrogenase complex deficiency UMLS:C1839888 human_phenotype owl:Class HP:0032889 biolink:NamedThing Focal aware sensory seizure with gustatory features A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. hp0009lx5z These seizures involve the parietal operculum and the insula. peter owl:Class HP:0032151 biolink:NamedThing Episodic eosinophilia Recurrent episodes of marked eosinophilia that resolve spontaneously. hp0009lx5z 2018-12-02 12:56:00+00:00 peter owl:Class HP:0025060 biolink:NamedThing Multifocal splenic abscess Multiple abscess lesions in the spleen. hp0009lx5z Multilocular splenic abscess 2016-09-26 09:19:25+00:00 HPO:probinson owl:Class HP:0009744 biolink:NamedThing Abnormal spinal dura mater morphology An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord. hp0009lx5z Abnormality of the spinal dura mater peter 2009-01-31T02:20:51Z UMLS:C4024214 human_phenotype owl:Class HP:0011319 biolink:NamedThing Bilambdoid synostosis Premature synostosis of both lambdoid sutures. hp0009lx5z Bilateral lambdoid craniosynostosis|Bilateral lambdoid suture synostosis peter 2012-02-25T01:12:22Z UMLS:C4021163 owl:Class HP:0005132 biolink:NamedThing Pericardial constriction Compression of the heart caused by rigid, thickened, or fused pericardial membranes. hp0009lx5z UMLS:C0240709 owl:Class HP:0031830 biolink:NamedThing Pinguecula A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea. hp0009lx5z 2018-05-04 01:54:08+00:00 peter owl:Class HP:0031626 biolink:NamedThing Coronary ostial atresia Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve. hp0009lx5z Atresia of coronary ostium 2017-12-16 16:26:05+00:00 Coronary ostial atresia is usually associated with ischemic manifestations peter owl:Class HP:0008702 biolink:NamedThing Absent internal genitalia hp0009lx5z UMLS:C4024637 human_phenotype owl:Class HP:0031019 biolink:NamedThing Pyknotic bone marrow neutrophils Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments. hp0009lx5z 2017-06-14 16:30:54+00:00 robinp owl:Class HP:0100721 biolink:NamedThing Mediastinal lymphadenopathy Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. hp0009lx5z Swollen lymph nodes in center of chest|Swollen lymph nodes in centre of chest doelkens 2011-06-06T02:26:55Z SNOMEDCT_US:52324001|UMLS:C0520743 human_phenotype owl:Class HP:0004810 biolink:NamedThing Congenital hypoplastic anemia A type of hypoplastic anemia with congenital onset. hp0009lx5z Congenital hypoplastic anaemia|Congenital dyserythropoietic anemia|Congenital dyserythropoietic anaemia In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature. HP:0005545 UMLS:C0002876|SNOMEDCT_US:52951008|SNOMEDCT_US:234371002|MSH:D000742|MSH:D029503|SNOMEDCT_US:88854002|UMLS:C1260899 human_phenotype owl:Class HP:0020134 biolink:NamedThing Increased urine neutrophil count Abnormally increased count of neutrophils in urine. hp0009lx5z robinp 2019-07-05 17:23:53+00:00 owl:Class HP:0003077 biolink:NamedThing Hyperlipidemia An elevated lipid concentration in the blood. hp0009lx5z Elevated lipids in blood Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). HP:0008356|HP:0008159 SNOMEDCT_US:55822004|UMLS:C0020473|MSH:D006949 human_phenotype owl:Class HP:0020212 biolink:NamedThing Reading-induced seizure A seizure precipitated by reading. hp0009lx5z These are typically manifest by myoclonic movements of the jaw or throat, increasing in frequency and potentially culminating in a bilateral tonic-clonic seizure if reading continues. robinp 2020-02-24 13:47:03+00:00 owl:Class HP:3000061 biolink:NamedThing Abnormality of infra-orbital nerve A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal. hp0009lx5z Abnormality of the infraorbital nerve vasilevs 2015-08-07T03:18:57Z UMLS:C4073269 human_phenotype owl:Class HP:0012671 biolink:NamedThing Abulia Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency. hp0009lx5z Aboulia Abulia is less severe thana kinetic mutism, and more so than apathy. peter 2014-02-27T10:48:32Z UMLS:C0919974 human_phenotype owl:Class HP:0410157 biolink:NamedThing Increased level of N-acetylneuraminic acid in fibroblasts An increase in the level of N-acetylneuraminic acid in cultured fibroblasts. hp0009lx5z Increased level of NANA in fibroblasts|Increased level of sialic acid in fibroblasts|Increased level of Neu5Ac in fibroblasts 2018-03-28 19:40:00+00:00 owl:Class HP:0001814 biolink:NamedThing Deep-set nails Deeply placed nails. hp0009lx5z Deep-set nails UMLS:C3277753 human_phenotype owl:Class HP:0007791 biolink:NamedThing Patchy atrophy of the retinal pigment epithelium Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas. hp0009lx5z UMLS:C4024800 human_phenotype owl:Class HP:0033363 biolink:NamedThing Hyaline membranes Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. hp0009lx5z 2020-12-16 11:36:41+00:00 peter owl:Class HP:0025433 biolink:NamedThing Decreased lecithin cholesterol acyl transferase level Reduced level of the enzyme lecithin cholesterol acyl transferase. hp0009lx5z 2017-04-23 16:31:33+00:00 Lecithin cholesterol acyl transferase (LCAT) is a plasma enzyme which esterifies cholesterol, and plays a key role in the metabolism of high-density lipoprotein cholesterol (HDL-C). HPO:probinson owl:Class HP:0032297 biolink:NamedThing Increased circulating IgG3 level An abnormally increased concentration of the IgG3 subtype in the blood circulation. hp0009lx5z 2019-02-12 22:50:02+00:00 IgG3 antibodies are particularly effective in the induction of effector functions. peter owl:Class HP:0100398 biolink:NamedThing Duplication of the distal phalanx of the 3rd toe Partial or complete duplication of distal phalanx of third toe. hp0009lx5z Duplication of the outermost bone of the 3rd toe|Duplication of the distal phalanx of the third toe|Partial/complete duplication of the distal phalanx of the 3rd toe UMLS:C4020999 human_phenotype owl:Class HP:0002018 biolink:NamedThing Nausea A sensation of unease in the stomach together with an urge to vomit. hp0009lx5z Nausea UMLS:C0027497|MEDDRA:10028813|MSH:D009325|SNOMEDCT_US:422587007 owl:Class HP:0005349 biolink:NamedThing Hypoplasia of the epiglottis Hypoplasia of the epiglottis. hp0009lx5z Hypoplastic epiglottis HP:0008746 UMLS:C1396772 human_phenotype owl:Class HP:0025585 biolink:NamedThing Hyperphoria Tendency for the visual axis of one eye to be higher than that of the other. hp0009lx5z 2018-01-13 19:42:23+00:00 HPO:probinson owl:Class HP:0031964 biolink:NamedThing Elevated circulating alanine aminotransferase concentration An abnormally high concentration in the circulation of alanine aminotransferase (ALT). hp0009lx5z Elevated serum alanine aminotransferase|Alanine aminotransferase increased|Elevated serum ALT|Elevated serum glutamic-pyruvic transaminase 2018-07-07 14:37:06+00:00 Alanine aminotransferase (ALT) is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells. peter owl:Class HP:0032956 biolink:NamedThing Renal tubular herpes simplex virus inclusions Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. hp0009lx5z peter owl:Class HP:0410063 biolink:NamedThing Increased level of galactonate in red blood cells An increase in the level of galactonate in the red blood cells. hp0009lx5z Increased level of galactonate in erythrocytes|Increased level of galactonate in RBCs 2018-01-29 22:39:38+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0025156 biolink:NamedThing Dependency on intravenous nutrition Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status. hp0009lx5z Dependency on IV nutrition 2016-12-04 12:14:59+00:00 Total parenteral nutrition (TPN) refers to the application of an intravenous nutritional solution in individuals with gastrointestinal disorders that prevent them from absorbing a sufficient amount of nutrients from the gut to maintain health. The solution contains protein, carbohydrates (in the form of glucose), glucose, fat, vitamins, and minerals. Dependency on TPN is essentially a manifestation of the continued severity of a gastrointestinal disorder. HPO:probinson owl:Class HP:0200097 biolink:NamedThing Oral mucosal blisters Blisters arising in the mouth. hp0009lx5z Oral blistering|Bullae of oral mucosa|Oral mucosal blisters|Oral mucosa blisters|Blebs of oral mucosa|Blisters of mouth sebastiankohler 2013-06-05T09:59:58Z UMLS:C0853945 owl:Class HP:0009710 biolink:NamedThing Chilblains Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks. hp0009lx5z Chilblain lesions peter 2009-01-30T07:26:24Z UMLS:C4024224 owl:Class HP:0500092 biolink:NamedThing Orbital rhabdomyosarcoma A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit. hp0009lx5z 2018-03-27 15:11:41+00:00 owl:Class HP:0007210 biolink:NamedThing Lower limb amyotrophy Muscular atrophy affecting the lower limb. hp0009lx5z UMLS:C4024921 human_phenotype owl:Class HP:0002528 biolink:NamedThing Granulovacuolar degeneration Electron-dense granules within double membrane-bound cytoplasmic vacuoles. hp0009lx5z Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease. UMLS:C0333454|SNOMEDCT_US:90506004 owl:Class HP:0030675 biolink:NamedThing Contracture of proximal interphalangeal joints of 2nd-5th fingers Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue. hp0009lx5z NIH:jdavis UMLS:C4073123 owl:Class HP:0006916 biolink:NamedThing Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons. hp0009lx5z Intraaxonal accumulation of curvilinear profiles UMLS:C4024964|UMLS:C1832339 human_phenotype owl:Class HP:0012570 biolink:NamedThing Synovial sarcoma A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities. hp0009lx5z Malignant synovioma Synovial sarcoma is a high-grade tumor that is associated with poor prognosis. peter 2014-01-08T08:47:50Z MSH:D013584|SNOMEDCT_US:302851001|SNOMEDCT_US:63211008|UMLS:C0039101 human_phenotype owl:Class HP:0004385 biolink:NamedThing Protracted diarrhea hp0009lx5z Protracted diarrhoea peter 2008-03-18T09:00:00Z SNOMEDCT_US:236077008|UMLS:C0473133 owl:Class HP:0012510 biolink:NamedThing Extra-axial cerebrospinal fluid accumulation An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space. hp0009lx5z Extra-axial CSF accumulation peter 2013-12-08T08:37:34Z UMLS:C4022871 human_phenotype owl:Class HP:0010130 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the hallux hp0009lx5z Enlarged end part of the innermost bone of the big toe doelkens 2009-05-29T01:22:23Z UMLS:C4024029 human_phenotype owl:Class HP:0031768 biolink:NamedThing Parafoveal fixation Fixation of an object in the area adjacent to the fovea. hp0009lx5z 2018-01-21 14:54:21+00:00 peter owl:Class HP:0000514 biolink:NamedThing Slow saccadic eye movements An abnormally slow velocity of the saccadic eye movements. hp0009lx5z Slow eye movements|Slow saccades|Slow visual tracking Saccades are rapid eye movements that align the fovea with the target. SNOMEDCT_US:404686001|UMLS:C1321329 human_phenotype owl:Class HP:0032133 biolink:NamedThing Transient decreased circulating total IgG A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. hp0009lx5z 2018-11-22 14:08:44+00:00 peter owl:Class HP:0033525 biolink:NamedThing Absent sperm axoneme central pair complex Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern. hp0009lx5z Absent central pair complex (9+0 pattern) 2021-01-14 13:30:27+00:00 peter owl:Class HP:0033524 biolink:NamedThing Abnormal sperm axoneme morphology Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC. hp0009lx5z 2021-01-14 13:25:38+00:00 peter owl:Class HP:0004060 biolink:NamedThing Trident hand A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. hp0009lx5z trident abnormality|trident deformity This abnormality is often seen in patients with achondroplasia. SNOMEDCT_US:249755001|UMLS:C0426874 human_phenotype owl:Class HP:0100400 biolink:NamedThing Duplication of the distal phalanx of the 5th toe Partial or complete duplication of the distal phalanx of little toe. hp0009lx5z Duplication of the outermost bone of the pinkie toe|Duplication of the outermost bone of the fifth toe|Duplication of the distal phalanx of the fifth toe|Duplication of the outermost bone of the little toe|Duplication of the outermost bone of the pinky toe|Partial/complete duplication of the distal phalanx of the 5th toe UMLS:C4020997 human_phenotype owl:Class HP:0002672 biolink:NamedThing Gastrointestinal carcinoma hp0009lx5z GI carcinoma UMLS:C0151544 human_phenotype owl:Class HP:0005661 biolink:NamedThing Salmonella osteomyelitis Osteomyelitis caused by infection with the bacteria, salmonella. hp0009lx5z Salmonella bone infection UMLS:C0152491|SNOMEDCT_US:6803002 human_phenotype owl:Class HP:0000786 biolink:NamedThing Primary amenorrhea hp0009lx5z SNOMEDCT_US:8913004|UMLS:C0232939 human_phenotype owl:Class HP:0011829 biolink:NamedThing Narrow philtrum Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. hp0009lx5z Decreased breadth of philtrum|Decreased horizontal dimension of philtrum|Decreased width of philtrum|Philtrum, Narrow|Decreased transverse dimension of philtrum|Thin philtrum Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. peter 2012-05-01T10:38:12Z UMLS:C4021115 human_phenotype owl:Class HP:0030447 biolink:NamedThing Merkel cell skin cancer A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features. hp0009lx5z Anaplastic carcinoma of the skin|Cutaneous APUDoma|Neuroendocrine carcinoma of the skin|Neuroendocrine tumor of the skin|Neuroendocrine tumour of the skin|Merkel cell cancer of the skin|Primary small cell carcinoma of the skin|Primary undifferentiated carcinoma of the skin UMLS:C0007129|MSH:D015266|SNOMEDCT_US:5052009|SNOMEDCT_US:254729005|SNOMEDCT_US:253001006 owl:Class HP:0012344 biolink:NamedThing Morphea Isolated patches of hardened skin (scleroderma). hp0009lx5z peter 2013-09-13T09:55:47Z UMLS:C1527383|SNOMEDCT_US:201049004|MSH:D012594 human_phenotype owl:Class HP:0032234 biolink:NamedThing Increased circulating creatine kinase MM isoform An increased concentration of the MM isoform of creatine kinase in the blood circulation. hp0009lx5z Increased circulating CK MM isoform 2019-01-26 17:12:03+00:00 All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. peter owl:Class HP:0007313 biolink:NamedThing Cerebral degeneration hp0009lx5z Neuroaxonal degeneration in the brain HP:0006874 SNOMEDCT_US:418143002|UMLS:C0154671|SNOMEDCT_US:52522001 human_phenotype owl:Class HP:0100346 biolink:NamedThing Fibular deviation of the 5th toe hp0009lx5z doelkens 2010-11-11T03:44:27Z UMLS:C4022134 human_phenotype owl:Class HP:0009098 biolink:NamedThing Chronic oral candidiasis Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. hp0009lx5z Chronic oral thrush UMLS:C4024599 owl:Class HP:0005157 biolink:NamedThing Concentric hypertrophic cardiomyopathy Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. hp0009lx5z Symmetric, concentric, hypertrophic cardiomyopathy HP:0001672 UMLS:C0238044 human_phenotype owl:Class HP:0041150 biolink:NamedThing Fractured cuboid bone A partial or complete breakage of the cuboid bone. hp0009lx5z bone cuboid bone owl:Class HP:0007379 biolink:NamedThing Neoplasm of the genitourinary tract A tumor (abnormal growth of tissue) of the genitourinary system. hp0009lx5z Genitourinary tract neoplasm|Genitourinary tract tumors|Genitourinary tract tumours|Neoplasm of the GU tract|Genitourinary tract neoplasia peter 2008-04-01T12:00:00Z UMLS:C0042065|NCIT:C3262|UMLS:C4020809|MSH:D014565 human_phenotype owl:Class HP:0040139 biolink:NamedThing Lipogranulomatosis Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions. hp0009lx5z Usually caused by a faulty lipid metabolism HPO:skoehler SNOMEDCT_US:189099001|SNOMEDCT_US:36279001|SNOMEDCT_US:416439000|UMLS:C1704214 owl:Class HP:0008456 biolink:NamedThing C2-C3 subluxation A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. hp0009lx5z UMLS:C2678323 human_phenotype owl:Class HP:0010444 biolink:NamedThing Pulmonary insufficiency The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. hp0009lx5z Pulmonary incompetence|Puolmonary valve insufficiency peter 2009-09-14T09:54:12Z UMLS:C0034088|MSH:D011665|SNOMEDCT_US:91434003 owl:Class HP:0040232 biolink:NamedThing Delayed onset bleeding Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours. hp0009lx5z UMLS:C4280712 owl:Class HP:0010910 biolink:NamedThing Hypervalinemia An increased concentration of valine in the blood. hp0009lx5z High blood valine concentration peter 2010-12-08T08:44:27Z MSH:C536524|UMLS:C0268573|SNOMEDCT_US:47719001 human_phenotype owl:Class HP:0025292 biolink:NamedThing Acral Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose). hp0009lx5z 2016-12-18 16:15:24+00:00 HPO:probinson owl:Class HP:0100129 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 2nd toe hp0009lx5z doelkens 2010-06-24T10:06:29Z UMLS:C4022292 human_phenotype owl:Class HP:0041234 biolink:NamedThing Fractured bone of jaw A partial or complete breakage of the bone of jaw. hp0009lx5z bone bone of jaw owl:Class HP:0003327 biolink:NamedThing Axial muscle weakness Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). hp0009lx5z UMLS:C1843697 human_phenotype owl:Class HP:0031239 biolink:NamedThing Extrafoveal choroidal neovascularization A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea. hp0009lx5z 2017-07-02 20:22:07+00:00 peter owl:Class HP:0031108 biolink:NamedThing Triceps weakness A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements. hp0009lx5z 2017-06-09 10:13:45+00:00 peter owl:Class HP:0012750 biolink:NamedThing T2 hypointense brainstem A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem. hp0009lx5z peter 2014-03-30T06:44:29Z UMLS:C4022746 human_phenotype owl:Class HP:0030165 biolink:NamedThing Temporal artery tortuosity The presence of an increased number of twists and turns of the temporal artery. hp0009lx5z UMLS:C4022602 owl:Class HP:0030841 biolink:NamedThing Toe pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe. hp0009lx5z Toe pain SNOMEDCT_US:285365001|UMLS:C0241416 owl:Class HP:0006209 biolink:NamedThing Partial-complete absence of 5th phalanges hp0009lx5z Partial-complete absence of 5th digital bone UMLS:C1867928 human_phenotype owl:Class HP:0008093 biolink:NamedThing Short 4th toe Underdevelopment (hypoplasia) of the fourth toe. hp0009lx5z Short 4th toe|Short fourth toe UMLS:C1862083 human_phenotype owl:Class HP:0001775 biolink:NamedThing Tarsal osteovalgus hp0009lx5z UMLS:C4025748 human_phenotype owl:Class HP:0045079 biolink:NamedThing Distal femoral metaphyseal irregularity Irregularity of the normally smooth surface of the distal metaphysis of the femur. hp0009lx5z Irregular distal femoral metaphyses HPO:skoehler owl:Class HP:0012556 biolink:NamedThing Hyperbeta-alaninemia Increased concentration of beta-alanine in the blood. hp0009lx5z Hyperbeta-alaninemia|Hyperbetaalaninemia|High blood beta-alanine levels peter 2014-01-04T01:37:23Z UMLS:C4021080 owl:Class HP:0030076 biolink:NamedThing Lobular carcinoma in situ hp0009lx5z MSH:D000071960|UMLS:C0279563|SNOMEDCT_US:109888004 owl:Class HP:0031656 biolink:NamedThing Systolic anterior motion of the mitral valve Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole. hp0009lx5z 2017-12-17 15:49:49+00:00 peter owl:Class HP:0030792 biolink:NamedThing Jaw neoplasm A tumor originating in the jaw (mandible or maxilla). hp0009lx5z MSH:D007573|UMLS:C0022364|SNOMEDCT_US:126634001 owl:Class HP:0032559 biolink:NamedThing Short sperm flagella Sperm cells with abnormally short flagella. hp0009lx5z 2019-06-15 00:21:15+00:00 See Figure 1B of PMID:30867909. peter owl:Class HP:0032838 biolink:NamedThing Neonatal unilateral epileptic spasm Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body. hp0009lx5z peter owl:Class HP:3000024 biolink:NamedThing Abnormal facial artery morphology Any structural abnormality of a facial artery, one of the branches of the external carotid artery. hp0009lx5z Abnormality of facial artery vasilevs 2015-08-07T00:16:03Z UMLS:C4073233 human_phenotype owl:Class HP:0032274 biolink:NamedThing Increased CSF N-Acetylaspartic acid concentration An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF). hp0009lx5z Increased NAA levels in CSF|Increased N-acetyl-L-aspartic acid levels in CSF|Increased N-acetyl aspartic acid levels in CSF|Increased N-acetylaspartate levels in CSF|Increased N-acetyl aspartate levels in CSF 2019-01-27 21:07:45+00:00 peter owl:Class HP:0007233 biolink:NamedThing Clusters of axonal regeneration Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. hp0009lx5z UMLS:C1843169 human_phenotype owl:Class HP:0020133 biolink:NamedThing Podocyte hypertrophy Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. hp0009lx5z Glomerular visceral epithelial cell hypertrophy|Hypertrophy of visceral epithelial cells Podocytes, also called visceral glomerular epithelial cells, are terminally differentiated cells that line the outer surface of the glomerular basement membrane. Podocytes prevent protein leakage into the urinary space, and also provide important tensile strength to the glomerular capillaries, by opposing the hydrostatic pressure from within. In contrast to glomerular endothelial and mesangial cells, podocytes do not typically proliferate. Studies have shown that following podocyte loss, the inability of podocytes to proliferate contributes to the development of glomerulosclerosis. Consequently, in order to cover the denuded glomerular basement membrane, podocytes increase in size due to hypertrophy. Although this is initially compensatory, podocyte hypertrophy is likely maladaptive, and contributes to glomerulosclerosis. robinp 2019-07-05 17:07:56+00:00 owl:Class HP:0001118 biolink:NamedThing Juvenile cataract A type of cataract that is not apparent at birth but that arises in childhood or adolescence. hp0009lx5z Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral). SNOMEDCT_US:399336001|UMLS:C0302254 human_phenotype owl:Class HP:0001839 biolink:NamedThing Split foot A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. hp0009lx5z Foot ectrodactyly|Split foot|Lobster-claw foot deformity|Split-foot HP:0003062|HP:0005904 SNOMEDCT_US:205358006|UMLS:C0432028 human_phenotype owl:Class HP:0011825 biolink:NamedThing Tented philtrum Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. hp0009lx5z Philtrum, Tented A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately. peter 2012-05-01T10:32:31Z UMLS:C4021119 human_phenotype owl:Class HP:0012159 biolink:NamedThing Internal carotid artery dissection A separation (dissection) of the layers of the internal carotid artery wall. hp0009lx5z The internal carotid begins at the bifurcation of the common carotid, opposite the upper border of the thyroid cartilage, and runs perpendicularly upward. It supplies the anterior part of the brain, the eye and its appendages, and sends branches to the forehead and nose. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation. peter 2013-02-16T07:22:28Z MSH:D020215|SNOMEDCT_US:705066004|UMLS:C0751815 human_phenotype owl:Class HP:0030515 biolink:NamedThing Moderately reduced visual acuity Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation). hp0009lx5z Moderate visual loss|Moderate reduction in visual acuity|Moderate visual impairment|Moderate vision loss SNOMEDCT_US:397542006|UMLS:C1301510 owl:Class HP:0100618 biolink:NamedThing Leydig cell neoplasia The presence of a neoplasm of the testis with origin in a Leydig cell. hp0009lx5z doelkens 2010-12-28T11:42:18Z UMLS:C4022011|NCIT:C3188 human_phenotype owl:Class HP:0012543 biolink:NamedThing Hemosiderinuria The presence of hemosiderin in the urine. hp0009lx5z Hemosiderinuria leads to a brown color of urine. It is a marker of chronic intravascular hemolysis, in which hemoglobin is released from RBCs into the bloodstream in excess of the binding capacity of haptoglobin. peter 2013-12-21T09:09:38Z UMLS:C2721579 human_phenotype owl:Class HP:0009276 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 4th finger Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. hp0009lx5z Camptodactyly of the ring finger|4th finger camptodactyly|Camptodactyly of the 4th finger doelkens 2009-01-07T04:10:39Z HP:0005845 UMLS:C4021503 human_phenotype owl:Class HP:0200124 biolink:NamedThing Chronic hepatitis due to cryptosporidium infection Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue. hp0009lx5z Hepatitis, chronic, due to cryptosporidium infection sebastiankohler 2013-06-11T11:21:21Z UMLS:C3808820 human_phenotype owl:Class HP:0100043 biolink:NamedThing Broad 5th toe A broad appearance of the fifth toe. hp0009lx5z Broad 5th toe|Broad little toe|Broad pinkie toe|Broad pinky toe doelkens 2010-06-24T09:56:25Z UMLS:C4022378 human_phenotype owl:Class HP:0012655 biolink:NamedThing Elevated CSF dopamine level Increased concentration of dopamine in the cerebrospinal fluid (CSF). hp0009lx5z peter 2014-02-15T10:36:53Z UMLS:C4022801 human_phenotype owl:Class HP:0012654 biolink:NamedThing Abnormal CSF dopamine level Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). hp0009lx5z peter 2014-02-15T10:35:24Z UMLS:C4022802 human_phenotype owl:Class HP:0000582 biolink:NamedThing Upslanted palpebral fissure The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. hp0009lx5z Upslanting palpebral fissures|Upward slanting of the opening between the eyelids|Upward slanting palpebral fissures|Upward slanted palpebral fissures|Upward slanting of palpebral fissures|Upslanted palpebral fissures|Mongoloid slant UMLS:C0423109|SNOMEDCT_US:246799009 human_phenotype owl:Class HP:0033743 biolink:NamedThing Macular agenesis A congenital defect characterized by lack of development of the macula. hp0009lx5z 2021-04-16 14:35:12+00:00 peter owl:Class HP:0032627 biolink:NamedThing Intratubular leukocyte casts Casts that contain white blood cells and are located within the tubuli of the kidney. hp0009lx5z peter owl:Class HP:0004280 biolink:NamedThing Irregular ossification of hand bones hp0009lx5z Irregular maturation of hand bones UMLS:C4025374 human_phenotype owl:Class HP:0005329 biolink:NamedThing Fixed facial expression hp0009lx5z Unchanging facial expression|Fixed facial expression UMLS:C1855353 human_phenotype owl:Class HP:0009631 biolink:NamedThing Bullet-shaped proximal phalanx of the thumb Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected. hp0009lx5z Bullet-shaped innermost thumb bone doelkens 2009-01-29T05:09:41Z UMLS:C4024266 human_phenotype owl:Class HP:0032841 biolink:NamedThing Neonatal bilateral asymmetric epileptic spasm Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body. hp0009lx5z peter owl:Class HP:0001922 biolink:NamedThing Vacuolated lymphocytes The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. hp0009lx5z Enlarged lysosomal vacuoles in lymphocytes|Vacuolated blood lymphocytes Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency. HP:0008329|HP:0008147 UMLS:C1836855 human_phenotype owl:Class HP:0006369 biolink:NamedThing Irregular patellae An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour. hp0009lx5z Irregular patellar margins|Irregular patellar contour HP:0006458 UMLS:C1836870 human_phenotype owl:Class HP:0033181 biolink:NamedThing Spinal epidural abscess Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA. hp0009lx5z A severe pyogenic infection of the epidural space 2020-09-28 22:20:47+00:00 peter owl:Class HP:0012473 biolink:NamedThing Tongue atrophy Wasting of the tongue. hp0009lx5z Lingual wasting|Atrophy of the tongue|Lingual atrophy|Wasting of the tongue peter 2013-11-26T10:32:31Z SNOMEDCT_US:50805004|UMLS:C0426494|UMLS:C0241423|SNOMEDCT_US:249382006 human_phenotype owl:Class HP:0031414 biolink:NamedThing High serum calcifediol An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3. hp0009lx5z High serum 25-hydroxycholecalciferol|High serum calcidiol 2017-09-12 01:49:36+00:00 peter owl:Class HP:0001425 biolink:NamedThing Heterogeneous hp0009lx5z Heterogeneity|Genetic heterogeneity MSH:D018740|UMLS:C0242960 human_phenotype owl:Class HP:0030819 biolink:NamedThing Ski jump nail Nails that slope upward at the free edge. hp0009lx5z Upward angulation of nail|Upslanting nail UMLS:C4280751 owl:Class HP:0001800 biolink:NamedThing Hypoplastic toenails Underdevelopment of the toenail. hp0009lx5z Underdeveloped toenails UMLS:C1837279 human_phenotype owl:Class HP:0001792 biolink:NamedThing Small nail A nail that is diminished in length and width, i.e., underdeveloped nail. hp0009lx5z Hypoplastic nails|Small nails|Small nail|Hypoplastic nail|Nail hypoplasia HP:0001813 SNOMEDCT_US:11375002|UMLS:C0263523 human_phenotype owl:Class HP:0032335 biolink:NamedThing Monoclonal elevation of circulating IgA An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp0009lx5z 2019-02-18 14:10:39+00:00 peter owl:Class HP:0040047 biolink:NamedThing Abnormal right hemidiaphragm morphology hp0009lx5z Abnormality of the right hemidiaphragm HPO:skoehler UMLS:C4022470 owl:Class HP:0001278 biolink:NamedThing Orthostatic hypotension A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. hp0009lx5z Postural hypotension|Decrease in blood pressure upon standing up HP:0004932|HP:0006700 SNOMEDCT_US:28651003|MSH:D007024|UMLS:C0020651 human_phenotype owl:Class HP:0020171 biolink:NamedThing Decreased blood drug concentration Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. hp0009lx5z Decreased plasma drug concentration|Decreased serum drug concentration|Reduced blood drug concentration|Reduced serum drug concentrations|Reduced plasma drug concentration robinp 2019-07-06 21:44:04+00:00 owl:Class HP:0032006 biolink:NamedThing Lip tremor An unintentional, oscillating to-and-fro muscle movement affecting the lip. hp0009lx5z 2018-07-17 13:06:59+00:00 peter owl:Class HP:0410388 biolink:NamedThing Decreased proportion of central memory CD4-positive, alpha-beta T cells A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z Decreased proportion of central memory CD4+, alpha-beta T cell|Reduced proportion of CD4+ central memory cells|Decreased proportion of CD4-positive central memory cells|Decreased proportion of CD4+ central memory cells An abnormally decreased proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. HP:0025622 owl:Class HP:0410386 biolink:NamedThing Decreased proportion of CD4-positive, alpha-beta memory T cells Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. hp0009lx5z owl:Class HP:0008959 biolink:NamedThing Distal upper limb muscle weakness Reduced strength of the distal musculature of the arms. hp0009lx5z UMLS:C3150620 human_phenotype owl:Class HP:0006640 biolink:NamedThing Multiple rib fractures More than one fracture of the ribs. hp0009lx5z Multiple rib fractures SNOMEDCT_US:1261007|UMLS:C0272567 human_phenotype owl:Class HP:0006509 biolink:NamedThing Diverticulosis of trachea Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical). hp0009lx5z Tracheal diverticulosis|Tracheocele|Tracheal diverticulum|Paratracheal air cyst UMLS:C0340213|SNOMEDCT_US:14011008 owl:Class HP:0031959 biolink:NamedThing Leg dystonia A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs. hp0009lx5z 2018-07-07 14:23:39+00:00 peter owl:Class HP:0011651 biolink:NamedThing Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. hp0009lx5z DORV with doubly committed VSD and pulmonary stenosis peter 2012-04-09T10:02:22Z UMLS:C3165091|SNOMEDCT_US:448516008 human_phenotype owl:Class HP:3000056 biolink:NamedThing Abnormality of artery of lower lip An abnormality of an artery of lower lip. hp0009lx5z Abnormality of the inferior labial artery vasilevs 2015-08-07T03:18:34Z UMLS:C4073264 human_phenotype owl:Class HP:0031276 biolink:NamedThing Obstructive shock A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism). hp0009lx5z 2017-08-12 21:01:37+00:00 peter owl:Class HP:0100645 biolink:NamedThing Cystocele Anterior vaginal wall prolapse with bulging of the bladder into the vagina. hp0009lx5z Bladder prolapse|Dropped bladder|Prolapsed bladder|Bladder hernia Cystocele occurs owing to weakening and stretching of the suppoortive tissue between the bladder and the vaginal wall. doelkens 2010-12-29T06:05:01Z SNOMEDCT_US:252005008|ICD-9:618.00|UMLS:C1394494 human_phenotype owl:Class HP:0004238 biolink:NamedThing Lytic defects of carpal bones hp0009lx5z UMLS:C4025400 human_phenotype owl:Class HP:0031577 biolink:NamedThing Tessier number 5 facial cleft The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium. hp0009lx5z 2017-10-14 12:42:32+00:00 peter owl:Class HP:0012196 biolink:NamedThing Cheyne-Stokes respiration An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes. hp0009lx5z Periodic respiration|Cheyne-Stokes breathing peter 2013-03-11T07:00:56Z UMLS:C1313952|MSH:D002639|SNOMEDCT_US:309155007|SNOMEDCT_US:271824009|UMLS:C0008039 owl:Class HP:0030774 biolink:NamedThing Mitochondrial swelling The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures. hp0009lx5z SNOMEDCT_US:125429001|UMLS:C0026244|MSH:D008933 owl:Class HP:0011275 biolink:NamedThing Recurrent mycobacterium avium complex infections Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection. hp0009lx5z Mycobacterium avium complex (MAC) is a group of species including M. avium, M. avium paratuberculosis, and others. Disseminated MAC infections can be seen associated with HIV infection. Pulmonary disease and cervical adenitis are other sequellae of MAC infection. peter 2011-12-28T12:16:46Z UMLS:C1737260 human_phenotype owl:Class HP:0030526 biolink:NamedThing Severe constriction of peripheral visual field Peripheral visual field constriction with 10-19 degrees central field preserved. hp0009lx5z Severe peripheral visual field loss UMLS:C4073003 owl:Class HP:0012182 biolink:NamedThing Oropharyngeal squamous cell carcinoma A squamous cell carcinoma that originates in the oropharnyx. hp0009lx5z peter 2013-02-23T10:28:31Z SNOMEDCT_US:707585008|SNOMEDCT_US:423464009|UMLS:C0280313 owl:Class HP:0007623 biolink:NamedThing Pigmentation anomalies of sun-exposed skin hp0009lx5z Abnormal pigmentation in sun-exposed skin UMLS:C4024826 human_phenotype owl:Class HP:3000004 biolink:NamedThing Abnormality of frontalis muscle belly An abnormality of a frontalis muscle belly. hp0009lx5z vasilevs 2015-02-26T03:42:54Z UMLS:C4073213 human_phenotype owl:Class HP:0040172 biolink:NamedThing Abnormality of occipitofrontalis muscle hp0009lx5z HPO:skoehler UMLS:C4073138 owl:Class HP:0410052 biolink:NamedThing Increased level of allantoin in serum An increase in the level of allantoin in the serum. hp0009lx5z 2018-01-27 01:42:36+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0032544 biolink:NamedThing Predominant small joint localization Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck. hp0009lx5z 2019-06-12 10:19:53+00:00 peter owl:Class HP:0005236 biolink:NamedThing Chronic calcifying pancreatitis A form of chronic pancreatitis that is characterized by calcification. hp0009lx5z UMLS:C4025231 human_phenotype owl:Class HP:0007573 biolink:NamedThing Late onset atopic dermatitis A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis. hp0009lx5z Late onset baby eczema UMLS:C4024843|UMLS:C4280439 human_phenotype owl:Class HP:0005233 biolink:NamedThing Hypoplasia of the gallbladder The presence of a hypoplastic gallbladder. hp0009lx5z Hypoplastic gallbladder SNOMEDCT_US:93259002|UMLS:C0345282 human_phenotype owl:Class HP:0007795 biolink:NamedThing Anterior cortical cataract A cataract that affects the anterior part of the cortex of the lens. hp0009lx5z UMLS:C1857308 human_phenotype owl:Class HP:0100019 biolink:NamedThing Cortical cataract A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. hp0009lx5z doelkens 2010-05-28T11:35:33Z HP:0007876 UMLS:C0271160|SNOMEDCT_US:193576003 human_phenotype owl:Class HP:0030576 biolink:NamedThing Pinhole visual acuity 0.8 LogMAR hp0009lx5z UMLS:C4073049 owl:Class HP:0002592 biolink:NamedThing Gastric ulcer An ulcer, that is, an erosion of an area of the gastric mucous membrane. hp0009lx5z Stomach ulcer The presence of a mucosal erosion equal to or greater than 0.5 cm. MSH:D013276|UMLS:C0038358|SNOMEDCT_US:397825006|MEDDRA:10017822 human_phenotype owl:Class HP:0004295 biolink:NamedThing Abnormality of the gastric mucosa An abnormality of the gastric mucous membrane. hp0009lx5z Abnormality of the mucous membrane layer of stomach peter 2008-02-20T11:12:00Z UMLS:C4025362 human_phenotype owl:Class HP:0007544 biolink:NamedThing Piebaldism Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution. hp0009lx5z SNOMEDCT_US:6479008|SNOMEDCT_US:718122005|UMLS:C0080024|MSH:D016116 human_phenotype owl:Class HP:0002756 biolink:NamedThing Pathologic fracture A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. hp0009lx5z Spontaneous fractures|Pathologic fractures|Spontaneous fracture HP:0005633 MSH:D005598|SNOMEDCT_US:22640007|UMLS:C0016663|SNOMEDCT_US:268029009 human_phenotype owl:Class HP:0003324 biolink:NamedThing Generalized muscle weakness Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. hp0009lx5z Muscle weakness, generalised|Generalised muscle weakness|Generalized weakness|Generalised weakness|Muscle weakness, diffuse|Muscle weakness, generalized HP:0003686|HP:0003723 UMLS:C0746674 human_phenotype owl:Class HP:0033581 biolink:NamedThing Absent peripheral lymph nodes in presence of infection The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases. hp0009lx5z 2021-01-24 16:35:05+00:00 peter owl:Class HP:0030455 biolink:NamedThing Abnormality of pattern visual evoked potentials hp0009lx5z UMLS:C4072946 owl:Class HP:0000649 biolink:NamedThing Abnormality of visual evoked potentials An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. hp0009lx5z Abnormal visual-evoked potentials|Abnormal visual evoked responses|Abnormal visual evoked potential|Abnormal vision evoked potentials|VEP abnormalities The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent. SNOMEDCT_US:102968003|UMLS:C0522214 human_phenotype owl:Class HP:0033117 biolink:NamedThing Duodenitis Inflammation of the lining of the upper small intestine (duodenum). hp0009lx5z 2020-09-03 12:01:20+00:00 The diagnosis of duodenitis is made when there is infiltration by inflammatory cells with changes in villous architecture and surface and crypt epithelium. Duodenitis can be graded according to the amount of neutrophilic and plasma cell infiltration, villous height, Brunner's gland hyperplasia with prolapse into the lamina propria and gastric metaplasia. peter owl:Class HP:0003872 biolink:NamedThing Humeral exostoses Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. hp0009lx5z UMLS:C4025538 human_phenotype owl:Class HP:0000024 biolink:NamedThing Prostatitis The presence of inflammation of the prostate. hp0009lx5z Inflammation of the prostate UMLS:C0033581|SNOMEDCT_US:9713002|MSH:D011472 human_phenotype owl:Class HP:0010946 biolink:NamedThing Dilatation of the renal pelvis The presence of dilatation of the renal pelvis. hp0009lx5z peter 2011-01-16T03:39:20Z UMLS:C1868864 human_phenotype owl:Class HP:0410256 biolink:NamedThing Infection associated neutropenia Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan. hp0009lx5z 2018-10-19 19:13:46+00:00 owl:Class HP:0410255 biolink:NamedThing Transient neutropenia A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity. hp0009lx5z 2018-10-19 18:57:52+00:00 owl:Class HP:0001706 biolink:NamedThing Endocardial fibroelastosis Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction hp0009lx5z MSH:D004695|UMLS:C0014117|SNOMEDCT_US:65457005 human_phenotype owl:Class HP:0003141 biolink:NamedThing Increased LDL cholesterol concentration An elevated concentration of low-density lipoprotein cholesterol in the blood. hp0009lx5z Increased beta-lipoproteins|Increased circulating LDL level|Increased plasma LDL levels|Hyperbetalipoproteinemia|Increased circulating low-density lipoprotein cholesterol|Increased LDL cholesterol|Increased LDLc concentration|Increased circulating low-density lipoprotein levels HP:0008343 UMLS:C0549399|UMLS:C0020445|MSH:D006938|SNOMEDCT_US:398036000|SNOMEDCT_US:190773008 human_phenotype owl:Class HP:0008339 biolink:NamedThing Diaminoaciduria An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine). hp0009lx5z UMLS:C4024698 owl:Class HP:0006165 biolink:NamedThing Proportionate shortening of all digits hp0009lx5z Proportionate shortening of all digits UMLS:C1862157 human_phenotype owl:Class HP:0011222 biolink:NamedThing Depressed glabella Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges. hp0009lx5z Deficiency of glabella|Hypoplasia of glabella|Concave glabella|Flat area between the eyebrows|Flat glabella|Deficient area between the eyebrows The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. peter 2011-12-07T10:03:30Z UMLS:C4023455 human_phenotype owl:Class HP:0006597 biolink:NamedThing Diaphragmatic paralysis The presence of a paralyzed diaphragm. hp0009lx5z Paralysed diaphragm|Diaphragmatic paralysis|Paralyzed diaphragm Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue. UMLS:C0035232|MSH:D012133|SNOMEDCT_US:64228003 human_phenotype owl:Class HP:0008833 biolink:NamedThing Irregular acetabular roof hp0009lx5z UMLS:C1834975 human_phenotype owl:Class HP:0025380 biolink:NamedThing Increased circulating androstenedione concentration Increased concentration of androstenedione in the blood circulation. hp0009lx5z Increased serum androstenedione 2017-04-20 10:48:45+00:00 4-Androstenedione is the common precursor of the androgen and estrogen sex hormones and is produced in the adrenal glands and the gonads. HPO:probinson owl:Class HP:0003655 biolink:NamedThing Reduced level of N-acetylglucosaminyltransferase II An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. hp0009lx5z Deficient N-acetylglucosaminyltransferase II UMLS:C4021725 human_phenotype owl:Class HP:0030217 biolink:NamedThing Limb apraxia Difficulty in performing the correct execution of limbs movements in absence of motor impairment. hp0009lx5z UMLS:C4022574 owl:Class HP:0030618 biolink:NamedThing Increased OCT-measured foveal thickness hp0009lx5z UMLS:C4073088 owl:Class HP:0011832 biolink:NamedThing Narrow nasal tip Decrease in width of the nasal tip. hp0009lx5z Narrow nasal tip|Thin tip of nose|Pinched nasal tip|Pinched tip of nose|Narrow tip of nose|Thin nasal tip|Nasal tip, narrow|Nasal tip, pinched Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. peter 2012-05-01T07:39:09Z UMLS:C0426433|SNOMEDCT_US:249331008 human_phenotype owl:Class HP:0032098 biolink:NamedThing Hypomanganesemia A reduction below the normal concentration of manganese in the blood. hp0009lx5z 2018-11-04 11:14:54+00:00 peter owl:Class HP:0500017 biolink:NamedThing Abnormal cardiac catheterization Abnormal results from the diagnostic tests resulting from cardiac catheterization. hp0009lx5z Abnormal cardiac cath 2017-05-12 16:36:51+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0100673 biolink:NamedThing Vaginal hydrocele A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable. hp0009lx5z "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. doelkens 2010-12-30T01:36:39Z SNOMEDCT_US:55434001|UMLS:C1720771|SNOMEDCT_US:386152007|SNOMEDCT_US:26614003|MSH:D006848 owl:Class HP:0009106 biolink:NamedThing Abnormal pelvis bone ossification An abnormality of the formation and mineralization of any bone of the bony pelvis. hp0009lx5z Abnormal maturation of the pelvis bone|Abnormal ossification involving the bones of the pelvis peter 2008-04-04T08:42:00Z UMLS:C4280402|UMLS:C4021525 human_phenotype owl:Class HP:0100418 biolink:NamedThing Partial duplication of the distal phalanx of the 5th toe Partial duplication of the distal phalanx of little toe. hp0009lx5z Partial duplication of the outermost bone of the pinkie toe|Partial duplication of the outermost bone of the pinky toe|Partial duplication of the outermost bone of the fifth toe|Partial duplication of the outermost bone of the little toe|Partial duplication of the distal phalanx of the fifth toe UMLS:C4020981 human_phenotype owl:Class HP:0001722 biolink:NamedThing High-output congestive heart failure A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. hp0009lx5z UMLS:C0742747 human_phenotype owl:Class HP:0001635 biolink:NamedThing Congestive heart failure The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. hp0009lx5z Cardiac insufficiency|Heart failure|Cardiac failure|Chronic heart failure|Cardiac failures|CHF HP:0006686 MSH:D006333|UMLS:C0018801|UMLS:C0018802|SNOMEDCT_US:42343007|SNOMEDCT_US:84114007 human_phenotype owl:Class HP:0002527 biolink:NamedThing Falls hp0009lx5z Falls SNOMEDCT_US:1912002|UMLS:C0085639|SNOMEDCT_US:161898004 human_phenotype owl:Class HP:0006008 biolink:NamedThing Unilateral brachydactyly hp0009lx5z Short digits on one side UMLS:C4280467|UMLS:C1868164 human_phenotype owl:Class HP:0031556 biolink:NamedThing Reduced granulocyte CD16 level Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry. hp0009lx5z 2017-09-24 23:23:06+00:00 peter owl:Class HP:0002642 biolink:NamedThing Arteriovenous fistulas of celiac and mesenteric vessels hp0009lx5z Arteriovenous fistulas of coeliac and mesenteric vessels UMLS:C1857693 human_phenotype owl:Class HP:0032438 biolink:NamedThing Platelet anisocytosis Abnormally increased variability in the size of platelets. hp0009lx5z 2019-03-03 16:06:55+00:00 peter owl:Class HP:0030393 biolink:NamedThing Endolymphatic sac tumor A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin). hp0009lx5z Heffner tumour|Low-grade adenocarcinoma of endolymphatic sac origin|Aggressive papillary middle ear tumour|Heffner tumor|Endolymphatic sac tumour|Aggressive papillary middle ear tumor Endolymphatic sac tumors (ELSTs) may arise sporadically or in von Hippel-Lindau (VHL) disease. The symptoms (hearing loss with or without tinnitus, vertigo, impairment of cranial nerve function) and the physical and neuro-otologic examination and imaging findings (computed tomography, magnetic resonance imaging) are not specific for tumors of the cerebellopontine angle (CPA). The final diagnosis can often only be reached through histopathological and immunohistochemical evaluation of the tumor specimen. The differential diagnosis in tumors of the CPA includes paraganglioma, chondroid tumor, atypical schwannoma, meningioma, and also rare entities such as aneurysm, hemangioblastoma, craniopharyngioma, and choroid plexus papilloma. SNOMEDCT_US:699817008|UMLS:C2348239 owl:Class HP:0040096 biolink:NamedThing Neoplasm of the inner ear A tumor (abnormal growth of tissue) of the inner ear. hp0009lx5z Inner ear tumour|Inner ear tumor HPO:skoehler UMLS:C1512779|NCIT:C3262 owl:Class HP:0032528 biolink:NamedThing Elevated urinary 4-hydroxybutyric acid An increased amount of 4-hydroxybutyric acid in the urine. hp0009lx5z 2019-05-27 12:47:50+00:00 A 4-hydroxy monocarboxylic acid that is butyric acid in which one of the hydrogens at position 4 is replaced by a hydroxy group. peter owl:Class HP:0000408 biolink:NamedThing Progressive sensorineural hearing impairment A progressive form of sensorineural hearing impairment. hp0009lx5z Hearing loss, sensorineural, progressive|Progressive bilateral sensorineural hearing loss|Bilateral progressive sensorineural hearing loss|Sensorineural hearing loss, progressive|Hearing loss, progressive sensorineural|Hearing loss, sensorineural, bilateral, progressive HP:0008592|HP:0008617|HP:0008601|HP:0000406|HP:0000397 UMLS:C1843156 human_phenotype owl:Class HP:0033626 biolink:NamedThing Increased non-HDL cholesterol concentration Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol). hp0009lx5z Elevated non-HDL cholesterol concentration 2021-01-30 23:17:23+00:00 peter owl:Class HP:0025134 biolink:NamedThing Increased serum estradiol An elevation above normal limits of the concentration of estradiol in the circulation. hp0009lx5z Increased estradiol level|Increased serum oestradiol 2016-11-27 14:09:28+00:00 HPO:probinson owl:Class HP:0008824 biolink:NamedThing Hypoplastic iliac body Underdevelopment of the body of ilium. hp0009lx5z Small iliac bodies|Hypoplastic iliac bodies HP:0005740 UMLS:C1849034 human_phenotype owl:Class HP:0032440 biolink:NamedThing Blood group B ABO phenotype B, corresponding to the genotype BO or BB. hp0009lx5z 2019-03-03 16:34:03+00:00 peter owl:Class HP:0004590 biolink:NamedThing Hypoplastic sacrum hp0009lx5z Small sacrum UMLS:C1970816 human_phenotype owl:Class HP:0030964 biolink:NamedThing Abnormal aortic physiology hp0009lx5z 2017-04-18 13:14:14+00:00 robinp owl:Class HP:0012117 biolink:NamedThing Hyperalbuminemia Elevation in the concentration of albumin in the blood. hp0009lx5z High albumin|Hyperalbuminaemia|High blood albumin levels hecht 2012-09-16T05:15:41Z UMLS:C1142113|SNOMEDCT_US:119248009 human_phenotype owl:Class HP:0031079 biolink:NamedThing Impaired growth-hormone response to insulin stimulation test Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT). hp0009lx5z 2017-05-28 23:33:58+00:00 peter owl:Class HP:0005547 biolink:NamedThing Myeloproliferative disorder Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. hp0009lx5z There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis. SNOMEDCT_US:425333006|UMLS:C0027022|SNOMEDCT_US:414794006|MSH:D009196 human_phenotype owl:Class HP:0100311 biolink:NamedThing Cerebral ventricular adhesions Bands of scar-like tisssue that hve formed within a cerebral ventricle. hp0009lx5z doelkens 2010-08-10T03:10:06Z UMLS:C4022152 owl:Class HP:0011136 biolink:NamedThing Aplasia of the sweat glands Absence of the sweat glands. hp0009lx5z Lack of sweat glands|Absent sweat glands peter 2011-06-19T02:06:44Z UMLS:C2677485 human_phenotype owl:Class HP:0011036 biolink:NamedThing Abnormality of renal excretion An altered ability of the kidneys to void urine and/or specific substances. hp0009lx5z peter 2011-03-06T12:28:55Z MP:0005555|UMLS:C4023579 human_phenotype owl:Class HP:0011841 biolink:NamedThing Ventricular flutter A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance. hp0009lx5z If untreated, ventricular flutter typically progresses to ventricular fibrillation. peter 2012-05-06T06:46:54Z MSH:D054141|SNOMEDCT_US:111288001|UMLS:C0152173 human_phenotype owl:Class HP:0041044 biolink:NamedThing Low neutrophil alkaline phosphatase An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme. hp0009lx5z owl:Class HP:0030654 biolink:NamedThing Umbilical cord cyst Any cystic lesion associated with the umbilical cord. hp0009lx5z Umbilical cord cysts can be single or multiple. Most usually, a solitary umbilical cyst is observed. They can be classified as (i) true cysts if they have an epithelial lining (allentoic cyst or omphalomesenteric duct cyst) or false cysts if they do not have an epithelial lining (umbilical cord pseudocyst). UMLS:C4073114 owl:Class HP:0032830 biolink:NamedThing Neonatal seizure with bilateral asymmetric automatism Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically. hp0009lx5z peter owl:Class HP:0006774 biolink:NamedThing Ovarian papillary adenocarcinoma The presence of a papillary adenocarcinoma of the ovary. hp0009lx5z NCIT:C2853|UMLS:C4024979 human_phenotype owl:Class HP:0011724 biolink:NamedThing Uhl's anomaly Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. hp0009lx5z peter 2012-04-11T08:59:07Z MSH:C536932|SNOMEDCT_US:2829000|UMLS:C0265857 human_phenotype owl:Class HP:0001442 biolink:NamedThing Somatic mosaicism The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. hp0009lx5z UMLS:C1866227 human_phenotype owl:Class HP:0031633 biolink:NamedThing Isolation of the left subclavian artery The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus. hp0009lx5z 2017-12-17 01:04:45+00:00 peter Fyler:2732 owl:Class HP:0025550 biolink:NamedThing Elevated circulating ribitol concentration An increase above the normal concentration of ribitol in the blood. hp0009lx5z Increased level of ribitol in serum 2017-07-09 13:01:59+00:00 HPO:probinson owl:Class HP:0012666 biolink:NamedThing Severely reduced ejection fraction A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. hp0009lx5z peter 2014-02-15T01:09:02Z UMLS:C4022790 human_phenotype owl:Class HP:0011539 biolink:NamedThing Atrial situs ambiguous Common atrium without defining morphologic features. hp0009lx5z Atrial situs ambiguus|Atrial heterotaxy peter 2012-04-07T10:43:42Z SNOMEDCT_US:448681000|UMLS:C3164429 human_phenotype owl:Class HP:0030041 biolink:NamedThing Schmorl's node A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. hp0009lx5z Schmorl's nodes Schmorl's nodes (SN) are common findings on imaging, and although most SNs are asymptomatic, some have been shown to become painful lesions. SNOMEDCT_US:45181002|UMLS:C0410632 owl:Class HP:0031348 biolink:NamedThing Dextrotransposition of the great arteries A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. hp0009lx5z D-TGA|D-loop transposition of the great arteries 2017-08-27 14:17:00+00:00 peter Fyler:700|Fyler:0700 owl:Class HP:0002745 biolink:NamedThing Oral leukoplakia A thickened white patch on the oral mucosa that cannot be rubbed off. hp0009lx5z Oral idiopathic leukoplakia|Oral leukoplasia|Oral white plaque|Oral white patch|Oral leukokeratosis|Oral leucoplakia|Oral idiopathic keratosis|leukokeratosis|Oral idiopathic white patch The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart. UMLS:C0023532|MSH:D007971|SNOMEDCT_US:414603003|UMLS:C1704317|SNOMEDCT_US:9187004|MSH:D007972 human_phenotype owl:Class HP:0003584 biolink:NamedThing Late onset A type of adult onset with onset of symptoms after the age of 60 years. hp0009lx5z UMLS:C4025592 human_phenotype owl:Class HP:0031490 biolink:NamedThing Hemangioma of the lip A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia. hp0009lx5z 2017-09-18 00:28:28+00:00 peter owl:Class HP:0410328 biolink:NamedThing Egg allergy Hypersensitivity in form of an adverse immune reaction against eggs. hp0009lx5z Immunoglobulin E-mediated egg allergy|IgE-mediated egg allergy|Allergy to eggs|Egg allergy owl:Class HP:0030616 biolink:NamedThing Foveal retinal pigment epithelial loss on macular OCT hp0009lx5z UMLS:C4073086 owl:Class HP:0025101 biolink:NamedThing Dysgenesis of the hippocampus Structural abnormality of the hippocampus related to defective development. hp0009lx5z Hippocampal dysgenesis 2016-10-28 07:15:06+00:00 Note that the term hippocampal dysgenesis is generally used to refer to a morphological abnormality of the hippocampus that is of presumed developmental (rather than acquired) origin. HPO:probinson owl:Class HP:0009593 biolink:NamedThing Peripheral Schwannoma The presence of a peripheral schwannoma. hp0009lx5z A Peripheral Schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells. peter 2009-01-28T10:55:58Z UMLS:C4024276 human_phenotype owl:Class HP:0004046 biolink:NamedThing Spurred ulnar metaphysis hp0009lx5z UMLS:C4025418 human_phenotype owl:Class HP:0031598 biolink:NamedThing Notched P wave V-shaped cut (notch) in the middle of the P wave. hp0009lx5z 2017-10-15 13:53:22+00:00 One may observe notched P-waves in the frontal plane in partial interatrial block. peter owl:Class HP:0032332 biolink:NamedThing Oligoclonal elevation of circulating IgM An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase. hp0009lx5z 2019-02-18 14:07:45+00:00 peter owl:Class HP:0030058 biolink:NamedThing Sickled erythrocytes An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains). hp0009lx5z UMLS:C2237347 owl:Class HP:0005632 biolink:NamedThing Absent forearm hp0009lx5z Absent forearms|Absent forearm UMLS:C1408532 human_phenotype owl:Class HP:0031152 biolink:NamedThing Full-thickness macular hole Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction. hp0009lx5z FTMH 2017-06-18 13:12:27+00:00 peter owl:Class HP:0005590 biolink:NamedThing Spotty hypopigmentation hp0009lx5z Patchy hypopigmentation|Spotty decreased pigmentation|Patchy depigmentation UMLS:C3806178 human_phenotype owl:Class HP:0033965 biolink:NamedThing Interlobular vein intimal mucoid edema Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. hp0009lx5z Intimal mucoid edema within interlobular veins 2021-06-24 12:47:37+00:00 peter owl:Class HP:0007153 biolink:NamedThing Progressive extrapyramidal movement disorder hp0009lx5z UMLS:C2748610 human_phenotype owl:Class HP:0031382 biolink:NamedThing Decreased lymphocyte proliferation in response to anti-CD3 A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3. hp0009lx5z Defective proliferation of lymphocytes following anti-CD3 stimulation|Defective lymphocyte proliferation to anti-CD3 2017-09-02 15:57:46+00:00 peter owl:Class HP:0005244 biolink:NamedThing Gastrointestinal infarctions hp0009lx5z Death of digestive organ tissue due to poor blood supply|GI infarctions UMLS:C3152231 human_phenotype owl:Class HP:0000845 biolink:NamedThing Elevated circulating growth hormone concentration Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. hp0009lx5z Elevated circulating somatotropin concentration|Somatotropin excess|Growth hormone excess Disorder resulting from excess pituitary gland production of growth hormone (hGH). HP:0008856 MSH:D000172|UMLS:C0001206|SNOMEDCT_US:74107003|UMLS:C0235986|MSH:C531600 owl:Class HP:0005781 biolink:NamedThing Contractures of the large joints hp0009lx5z UMLS:C1859698 human_phenotype owl:Class HP:0002349 biolink:NamedThing Focal aware seizure A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. hp0009lx5z Partial seizure without impairment of awareness|Focal seizure with retained awareness|Simple partial seizure|Focal aware seizures|Partial seizure with retained awareness|Focal seizure without impairment of consciousness or awareness|Focal seizures without impairment of consciousness or awareness|Simple partial seizures|Focal seizure without impairment of awareness In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved throughout, then the seizure is a focal aware seizure. Previously the terms simple partial was used to describe focal aware seizures. MSH:D004828|SNOMEDCT_US:79348005|UMLS:C0234974|SNOMEDCT_US:117891000119100 owl:Class HP:0009582 biolink:NamedThing Bullet-shaped proximal phalanx of the 2nd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected. hp0009lx5z Bullet-shaped innermost bone of index finger doelkens 2009-01-28T05:26:39Z UMLS:C4024280 human_phenotype owl:Class HP:0032794 biolink:NamedThing Myoclonic seizure A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. hp0009lx5z This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding myoclonic seizures when the onset is not known. peter owl:Class HP:0005230 biolink:NamedThing Biliary tract obstruction Obstruction affecting the biliary tree. hp0009lx5z UMLS:C0400979|SNOMEDCT_US:235918000 human_phenotype owl:Class HP:0011430 biolink:NamedThing Hypoplasia of fetal nasal bone On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637). hp0009lx5z Hypoplasia of foetal nasal bone|Underdeveloped fetal nose bone|Underdeveloped foetal nose bone peter 2012-03-17T07:08:30Z UMLS:C4023363 human_phenotype owl:Class HP:0003846 biolink:NamedThing Wide epiphyseal plates of the upper limbs hp0009lx5z Broad growth plates of upper limbs|Broad epiphyseal plates of the upper limbs UMLS:C4020913 human_phenotype owl:Class HP:0031620 biolink:NamedThing Anterior chamber flare grade 3+ Marked anterior chamber flare (iris and lens details hazy). hp0009lx5z 2017-12-16 13:31:07+00:00 peter owl:Class HP:0011860 biolink:NamedThing Metaphyseal dappling The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. hp0009lx5z Dappled metaphyseal sclerosis This finding is characteristic of Strudwick type of spondyloepimetaphyseal dysplasia. peter 2012-05-26T04:09:07Z UMLS:C4020907 human_phenotype owl:Class HP:0001403 biolink:NamedThing Macrovesicular hepatic steatosis A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. hp0009lx5z Macrovesicular steatosis UMLS:C1837256 human_phenotype owl:Class HP:0003532 biolink:NamedThing Ornithinuria An increased concentration of ornithine in the urine. hp0009lx5z UMLS:C4025602 human_phenotype owl:Class HP:0500222 biolink:NamedThing Increased CSF tryptophan concentration Abnormally increased levels of tryptophan in cerebrospinal fluid. hp0009lx5z High tryptophan levels in cerebrospinal fluid 2019-02-25 20:07:30+00:00 owl:Class HP:0500218 biolink:NamedThing Abnormal CSF tryptophan concentration Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid. hp0009lx5z Abnormal tryptophan levels in cerebrospinal fluid 2019-02-25 19:44:06+00:00 owl:Class HP:0003448 biolink:NamedThing Decreased sensory nerve conduction velocity Reduced speed of conduction of the action potential along a sensory nerve. hp0009lx5z Decreased sensory NCV|Decreased sensory nerve conduction velocities The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibres by the applied electrical impulse. HP:0006914 UMLS:C1849148 human_phenotype owl:Class HP:0011762 biolink:NamedThing Pituitary thyrotropic cell adenoma A type of pituitary adenoma that produces thyroid stimulating hormone (TSH). hp0009lx5z Pituitary thyrotropinoma peter 2012-04-22T03:42:08Z UMLS:C4021121 human_phenotype owl:Class HP:0005788 biolink:NamedThing Abnormal cervical myelogram hp0009lx5z UMLS:C4025135 human_phenotype owl:Class HP:0031773 biolink:NamedThing Posterior communicating artery aneurysm A widening (ballooning) localized in the wall of the posterior communicating artery. hp0009lx5z 2018-01-27 11:27:22+00:00 Posterior communicating artery aneurysm can leads to an acute palsy of the third cranial nerve with ipsilateral pupil dilation. Posterior communicating aneurysms can be classified into aneurysms that project laterally and below the tentorial incisura and cause oculomotor nerve compression, and aneurysms that project laterally above the tentorium that can manifest as temporal lobe hematoma if they rupture. peter owl:Class HP:0041115 biolink:NamedThing Fractured right clavicle A partial or complete breakage of the right clavicle. hp0009lx5z bone right clavicle owl:Class HP:0032515 biolink:NamedThing Deep dermatophytosis A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements. hp0009lx5z 2019-05-26 10:20:58+00:00 Deep dermatophytosis is is found primarily in immunocompromised patients with chronic dermatophytosis. This form of invasive disease may result from follicular rupture with direct cutaneous invasion, sometimes augmented by trauma or topical corticosteroid creams. It is not necessarily associated with hair follicles and tends to be more rapid in onset, larger, and extend deeper than Majocchi's granuloma. These infections can form clusters of granulomas, pseudomycetomas, lymphedema and draining sinuses. peter owl:Class HP:0003836 biolink:NamedThing Stippled calcification of the shoulder hp0009lx5z UMLS:C4025562 human_phenotype owl:Class HP:0100670 biolink:NamedThing Coarse metaphyseal trabecularization Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. hp0009lx5z Rough bone trabeculation|Rough trabeculation of bone|Coarse trabeculation at metaphyses doelkens 2010-12-30T01:29:46Z UMLS:C4020958 owl:Class HP:0500240 biolink:NamedThing Abnormal CSF carnosine concentration Any deviation from the normal concentration of carnosine in the cerebrospinal fluid. hp0009lx5z Abnormal carnosine levels in cerebrospinal fluid 2019-02-26 15:25:43+00:00 owl:Class HP:0032328 biolink:NamedThing Temporomandibular joint adhesion Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ. hp0009lx5z 2019-02-18 11:34:44+00:00 See Figure 1 of PMID:19534789. peter owl:Class HP:0032293 biolink:NamedThing Monoclonal elevation of IgG heavy chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain. hp0009lx5z 2019-02-12 22:42:06+00:00 peter owl:Class HP:0030708 biolink:NamedThing Myeloschisis The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane. hp0009lx5z Myeloschisis is a cleft spinal cord arising from a failure of neural tube closure. The placode is defined as a plate of embryonic epithelial cells constituting a primordial cell group from which the spinal cord arises and is often seen in a myelomeningocele. In a myelomeningocele, an exposed placode is often a myeloschisis. In other words, a myeloschisis is a collapsed myelomeningocele. When the placode in the myelomeningocele sac is a cleft spinal cord, this anomaly is classified as myeloschisis rather than myelomeningocele. UMLS:C0266507|SNOMEDCT_US:360530005 owl:Class HP:0007776 biolink:NamedThing Sparse lower eyelashes hp0009lx5z Scanty lower eyelashes|Hypotrichosis of lower eyelashes|Partial absence of lower eyelashes|Thin lower eyelashes|Sparse lower eyelashes HP:0007785 UMLS:C1835148 human_phenotype owl:Class HP:0012462 biolink:NamedThing Chin myoclonus Involuntary and irregular twitches of the chin. hp0009lx5z Geniospasm|Chin spasms peter 2013-11-24T12:26:38Z MSH:C537682|UMLS:C1860972 human_phenotype owl:Class HP:0500109 biolink:NamedThing Positive urine barbiturate test Detection of barbiturate metabolites such as Phenobarbital in urine. hp0009lx5z 2018-06-25 15:19:29+00:00 Barbiturates are central nervous depressants. They can reduce heart rate, breathing, and blood pressure. owl:Class HP:0007721 biolink:NamedThing Saccular conjunctival dilatations Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva. hp0009lx5z Saccular conjunctival aneurysms UMLS:C3277464 human_phenotype owl:Class HP:0003809 biolink:NamedThing Reduced intrathoracic adipose tissue An abnormally reduced amount of adipose tissue in the thoracic cavity. hp0009lx5z UMLS:C1837797 human_phenotype owl:Class HP:0000029 biolink:NamedThing Testicular atrophy Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. hp0009lx5z Testicular degeneration SNOMEDCT_US:17585008|UMLS:C0156312 human_phenotype owl:Class HP:0500262 biolink:NamedThing Atrichia The most dramatic and severe form of hair loss characterized by an absence of hair follicles. hp0009lx5z 2019-08-21 15:12:23+00:00 owl:Class HP:0009780 biolink:NamedThing Iliac horns Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. hp0009lx5z peter 2009-02-03T04:48:00Z UMLS:C0263925|SNOMEDCT_US:84308008 human_phenotype owl:Class HP:0033928 biolink:NamedThing Arcuate artery endoarterial foam cell hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. hp0009lx5z Endoarterial hypercellularity within arcuate artery consisting of foam cells 2021-06-24 01:13:37+00:00 peter owl:Class HP:0005945 biolink:NamedThing Laryngeal obstruction Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress. hp0009lx5z UMLS:C0264306|SNOMEDCT_US:61169001 human_phenotype owl:Class HP:0033142 biolink:NamedThing Long nasal bridge Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. hp0009lx5z 2020-09-15 10:21:30+00:00 peter owl:Class HP:0007903 biolink:NamedThing Paravenous chorioretinal atrophy Chorioretinal atrophy along the retinal veins. hp0009lx5z UMLS:C4072868 human_phenotype owl:Class HP:0011787 biolink:NamedThing Central hypothyroidism A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. hp0009lx5z peter 2012-04-22T06:25:45Z SNOMEDCT_US:26692000|UMLS:C0271801 human_phenotype owl:Class HP:0002750 biolink:NamedThing Delayed skeletal maturation A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. hp0009lx5z Delayed bone age before puberty|Retarded bone age|Delayed bone maturation|Delayed bone age|Retarded ossification|Delayed skeletal development|Skeletal maturation retardation HP:0000928|HP:0002806 SNOMEDCT_US:123983008|UMLS:C0541764 human_phenotype owl:Class HP:0011116 biolink:NamedThing Abnormality of interferon secretion An abnormality in the production or cellular release of interferons (a class of cytokines). hp0009lx5z peter 2011-06-12T09:14:43Z UMLS:C4023531 human_phenotype owl:Class HP:0410330 biolink:NamedThing Meat allergen allergy Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products. hp0009lx5z Immunoglobulin E-mediated meat allergen allergy|Meat allergen allergy|Meat allergy|Allergy to meat allergens|IgE-mediated meat allergen allergy owl:Class HP:0025410 biolink:NamedThing Splenogonadal fusion Joining of the spleen and a gonad during embryological development. hp0009lx5z 2017-04-23 10:58:17+00:00 The spleen is located in close proximitiy to the gonads during early embryological development, which may facilitate fusion. Splenogonadal fusion may be divided into continuous or discontinuous types, with the gonad being directly attached to the spleen in the continuous type . The discontinuous type consists of gonadal fusion with an accessory spleen or ectopic splenic tissue. HPO:probinson owl:Class HP:0500208 biolink:NamedThing Increased CSF lysine concentration Abnormally increased levels of lysine in cerebrospinal fluid. hp0009lx5z High lysine levels in cerebrospinal fluid 2019-02-25 18:32:16+00:00 owl:Class HP:0033567 biolink:NamedThing Right axis deviation A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used. hp0009lx5z Electrical right axis deviation|RAD 2021-01-24 13:39:18+00:00 peter owl:Class HP:0008045 biolink:NamedThing Enlarged flash visual evoked potentials hp0009lx5z High flash visual evoked potentials UMLS:C4021558 human_phenotype owl:Class HP:0000757 biolink:NamedThing Lack of insight hp0009lx5z Lack of insight UMLS:C0233824|SNOMEDCT_US:24340004 human_phenotype owl:Class HP:0006913 biolink:NamedThing Frontal cortical atrophy Atrophy of the frontal cortex. hp0009lx5z Frontal cortex degeneration UMLS:C4024965 human_phenotype owl:Class HP:0007942 biolink:NamedThing Internal ophthalmoplegia Paralysis of the iris and ciliary apparatus. hp0009lx5z Paralysis of the internal ocular muscles, the iris and ciliary apparatus. UMLS:C0339693|MSH:D009886|SNOMEDCT_US:232146005 human_phenotype owl:Class HP:0025259 biolink:NamedThing Stiff elbow A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity. hp0009lx5z Elbow stiffness|Stiff elbow 2016-12-18 01:11:24+00:00 HPO:probinson owl:Class HP:0003760 biolink:NamedThing Percussion-induced rapid rolling muscle contractions Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. hp0009lx5z UMLS:C4280804 human_phenotype owl:Class HP:0010548 biolink:NamedThing Percussion myotonia A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). hp0009lx5z Transient swelling of muscle induced by percussion peter 2009-10-01T08:15:50Z HP:0004304 MSH:D009222|UMLS:C0751359 human_phenotype owl:Class HP:0003371 biolink:NamedThing Enlargement of the proximal femoral epiphysis An abnormal enlargement of the proximal epiphysis of the femur. hp0009lx5z Enlarged capital femoral epiphyses|Enlarged end part of innermost thighbone UMLS:C1859697 human_phenotype owl:Class HP:0030303 biolink:NamedThing Hypoplastic anterior commissure Underdevelopment of the anterior commissure. hp0009lx5z UMLS:C4022524 owl:Class HP:0041154 biolink:NamedThing Fractured elbow joint A partial or complete breakage of the elbow joint. hp0009lx5z bone elbow joint owl:Class HP:0030048 biolink:NamedThing Colpocephaly Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. hp0009lx5z SNOMEDCT_US:253160006|MSH:C535973|UMLS:C0431384 owl:Class HP:0000219 biolink:NamedThing Thin upper lip vermilion Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). hp0009lx5z Thin upper lip|Thin vermilion border of upper lip|Thin red part of the upper lip|Thin upper lips|Decreased height of upper lip vermilion|Decreased volume of upper lip vermilion|Decreased volume of upper lip Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. HP:0200086|HP:0200062 UMLS:C1865017 human_phenotype owl:Class HP:0012602 biolink:NamedThing Renal chloride wasting High urine chloride in the presence of hypochloridemia. hp0009lx5z Kidney chloride wasting|Renal Cl- wasting|Renal Cl wasting peter 2014-01-16T06:18:11Z UMLS:C4022826 human_phenotype owl:Class HP:0031563 biolink:NamedThing Coronary arteriovenous fistula An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation. hp0009lx5z 2017-09-29 12:05:45+00:00 peter Fyler:2240 owl:Class HP:0012838 biolink:NamedThing Localized Being confined or restricted to a particular location. hp0009lx5z Localized|Localised PATO:0000627. peter 2014-06-06T07:27:48Z SNOMEDCT_US:255471002|UMLS:C0392752 human_phenotype owl:Class HP:0004661 biolink:NamedThing Frontalis muscle weakness Reduced strength of the frontalis muscle (which is located on the forehead). hp0009lx5z Weakness of forehead muscle|Weak frontalis muscle HPO:skoehler UMLS:C1859438 human_phenotype owl:Class HP:0025386 biolink:NamedThing Bitemporal hollowing Depression of profile in both temporal regions. hp0009lx5z 2017-04-21 12:00:17+00:00 HPO:probinson owl:Class HP:0007650 biolink:NamedThing Progressive ophthalmoplegia hp0009lx5z UMLS:C2062713 human_phenotype owl:Class HP:0100647 biolink:NamedThing Graves disease An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. hp0009lx5z Morbus Basedow doelkens 2010-12-29T06:08:53Z UMLS:C0018213|MSH:D006111|SNOMEDCT_US:55807009|SNOMEDCT_US:353295004 human_phenotype owl:Class HP:0012153 biolink:NamedThing Hypotriglyceridemia An decrease in the level of triglycerides in the blood. hp0009lx5z Decreased plasma Tg levels|Decreased circulating Tg levels|Low blood triglyceride levels peter 2012-09-20T06:39:11Z UMLS:C0542037 human_phenotype owl:Class HP:0025057 biolink:NamedThing Abnormality of olfactory lobe morphology A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell. hp0009lx5z 2016-09-26 09:03:16+00:00 HPO:probinson owl:Class HP:0006716 biolink:NamedThing Hereditary nonpolyposis colorectal carcinoma hp0009lx5z UMLS:C4024989 human_phenotype owl:Class HP:0040140 biolink:NamedThing Degeneration of the striatum hp0009lx5z HPO:skoehler UMLS:C4022417 owl:Class HP:0032357 biolink:NamedThing Decreased post-bronchodilator forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication. hp0009lx5z Decreased postbronchodilator forced vital capacity|Decreased post bronchodilator forced vital capacity 2019-02-23 17:05:42+00:00 peter owl:Class HP:5000019 biolink:NamedThing Anti-KLHL11 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11). hp0009lx5z Anti-kelch-like protein 11 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0006304 biolink:NamedThing Widely-spaced incisors hp0009lx5z Diastema between incisors|Diastema between front teeth|Widely spaced front teeth|Anterior diastema of teeth|Gap between front teeth UMLS:C0399545|SNOMEDCT_US:196409003 human_phenotype owl:Class HP:0001501 biolink:NamedThing 6 metacarpals hp0009lx5z 6 long bones of hand UMLS:C1861360 human_phenotype owl:Class HP:0030513 biolink:NamedThing Difficulty adjusting from light to dark hp0009lx5z UMLS:C4072995 owl:Class HP:4000038 biolink:NamedThing Infantile hydrocele Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation. hp0009lx5z 2021-05-02 20:11:45+00:00 robinp owl:Class HP:0033321 biolink:NamedThing Glomerular obsolescence Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. hp0009lx5z 2020-11-29 13:57:16+00:00 peter owl:Class HP:0004737 biolink:NamedThing Global glomerulosclerosis Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. hp0009lx5z Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). UMLS:C1865276 owl:Class HP:0033437 biolink:NamedThing Elevated circulating 4-methyl-2-oxopentanoic acid concentration Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation. hp0009lx5z Increased circulating alpha-ketoisocaproic acid concentration 2021-01-09 18:28:20+00:00 peter owl:Class HP:0033435 biolink:NamedThing Abnormal circulating keto acid concentration A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group. hp0009lx5z 2021-01-09 18:24:28+00:00 peter owl:Class HP:0000717 biolink:NamedThing Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). hp0009lx5z Autism The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism. MSH:D001321|SNOMEDCT_US:408856003|SNOMEDCT_US:43614003|UMLS:C0004352|SNOMEDCT_US:408857007 human_phenotype owl:Class HP:0031189 biolink:NamedThing Wrist drop A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. hp0009lx5z 2017-06-24 13:25:58+00:00 Wrist drop can be caused by radial nerve palsy. peter owl:Class HP:0000914 biolink:NamedThing Shield chest A broad chest. hp0009lx5z Broad chest|Shield chest Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome. UMLS:C1834124|UMLS:C1839248 human_phenotype owl:Class HP:0100663 biolink:NamedThing Synotia A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. hp0009lx5z doelkens 2010-12-30T01:00:36Z UMLS:C0266677|SNOMEDCT_US:77471004 human_phenotype owl:Class HP:0003783 biolink:NamedThing Externally rotated/abducted legs hp0009lx5z UMLS:C1970461 human_phenotype owl:Class HP:0020082 biolink:NamedThing Heinz bodies A type of erythrocyte inclusion composed of denatured hemoglobin. hp0009lx5z 2019-02-25 14:00:35+00:00 robinp owl:Class HP:0008755 biolink:NamedThing Laryngotracheomalacia hp0009lx5z UMLS:C0585984|SNOMEDCT_US:308232009 human_phenotype owl:Class HP:0025159 biolink:NamedThing Hypoautofluorescent retinal lesion Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. hp0009lx5z Hypo-autofluorescent retinal lesion 2016-12-04 12:54:44+00:00 HPO:probinson owl:Class HP:0001308 biolink:NamedThing Tongue fasciculations Fasciculations or fibrillation affecting the tongue muscle. hp0009lx5z Twitching of the tongue|Tongue fasciculations/fibrillations|Tongue fasciculation|Lingual fibrillations|Lingual fasciculations|Tongue twitching|Lingual twitching HP:0003727 MSH:D005207|UMLS:C0239548|SNOMEDCT_US:249878001 human_phenotype owl:Class HP:0032885 biolink:NamedThing Focal impaired awareness cognitive seizure with hallucination A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0011877 biolink:NamedThing Increased mean platelet volume Average platelet volume above the upper limit of the normal reference interval. hp0009lx5z Large platelets Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). peter 2012-05-31T03:58:17Z UMLS:C1096367 human_phenotype owl:Class HP:0011876 biolink:NamedThing Abnormal platelet volume Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. hp0009lx5z peter 2012-05-31T03:46:13Z UMLS:C4023152 human_phenotype owl:Class HP:0009342 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 3rd finger A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z Pseudoepiphysis of the outermost bone of the middle finger doelkens 2009-01-12T11:18:33Z UMLS:C4024425 human_phenotype owl:Class HP:0011288 biolink:NamedThing EEG with parietal sharp slow waves EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. hp0009lx5z peter 2012-02-11T12:29:59Z UMLS:C4023428 human_phenotype owl:Class HP:0010545 biolink:NamedThing Downbeat nystagmus Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. hp0009lx5z peter 2009-09-23T10:47:44Z UMLS:C0585544|SNOMEDCT_US:307676006 human_phenotype owl:Class HP:0010544 biolink:NamedThing Vertical nystagmus Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. hp0009lx5z peter 2009-09-23T10:45:18Z MSH:D009759|SNOMEDCT_US:111533001|UMLS:C0271386 human_phenotype owl:Class HP:0010461 biolink:NamedThing Abnormality of the male genitalia Abnormality of the male genital system. hp0009lx5z Abnormal male genitals|Abnormality of the male genitalia peter 2009-09-15T08:33:20Z UMLS:C4023819 owl:Class HP:0030742 biolink:NamedThing Glial remnants posterior to lens This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot. hp0009lx5z Mittendorf dot SNOMEDCT_US:370483001|UMLS:C1299892 owl:Class HP:0025327 biolink:NamedThing Decreased renal parenchymal thickness Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. hp0009lx5z 2017-02-11 10:48:34+00:00 The thickness of the renal parenchyma decreases with age. The thickness of the renal parenchyma is correlated with renal function. HPO:probinson owl:Class HP:0006852 biolink:NamedThing Episodic generalized hypotonia The occurrence of repeated episodes of generalized muscular hypotonia. hp0009lx5z Episodic generalised hypotonia UMLS:C4024976 human_phenotype owl:Class HP:0040251 biolink:NamedThing Hand dimple A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand. hp0009lx5z Hand dimples Use case: PMC4498842 UMLS:C4280697 owl:Class HP:0025476 biolink:NamedThing Testicular lipomatosis Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm. hp0009lx5z 2017-05-14 12:49:41+00:00 Testicular lipomatosis may be a sign of Cowden disease. HPO:probinson owl:Class HP:0011633 biolink:NamedThing Complete left sided absence of pericardium A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart. hp0009lx5z Absent lining around of left side of heart A congenital anomaly and not the result of a pericardectomy. peter 2012-04-08T10:11:03Z UMLS:C4023256 human_phenotype owl:Class HP:0010557 biolink:NamedThing Overlapping fingers A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. hp0009lx5z Overlapping of the fingers occurring as the result of a deviation of the fingers from their normal position. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly. sandra1 2009-10-13T09:21:52Z UMLS:C1446712 human_phenotype owl:Class HP:0002738 biolink:NamedThing Hypoplastic frontal sinuses Underdevelopment of frontal sinus. hp0009lx5z Decreased volume of frontal sinuses|Hypotrophic frontal sinus|Underdeveloped frontal sinuses|Decreased pneumatization of frontal sinus|Small frontal sinuses UMLS:C4280549|UMLS:C1859682|UMLS:C4280548 human_phenotype owl:Class HP:0012840 biolink:NamedThing Proximal Localized close to the central point of the body. hp0009lx5z peter 2014-06-06T07:30:42Z UMLS:C0205107|SNOMEDCT_US:40415009 human_phenotype owl:Class HP:0012427 biolink:NamedThing Excessive femoral anteversion An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward. hp0009lx5z Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood. peter 2013-11-12T10:51:07Z UMLS:C4022909 owl:Class HP:0030983 biolink:NamedThing Ovarian thecoma A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types. hp0009lx5z 2017-05-31 00:22:37+00:00 robinp owl:Class HP:0030885 biolink:NamedThing Recurrent parasitic infections Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection. hp0009lx5z UMLS:C4280726 owl:Class HP:0012259 biolink:NamedThing Absent inner and outer dynein arms Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. hp0009lx5z peter 2013-04-07T09:40:14Z UMLS:C4022986 human_phenotype owl:Class HP:0025521 biolink:NamedThing Increased body fat percentage The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males. hp0009lx5z 2017-05-17 22:56:46+00:00 HPO:probinson owl:Class HP:0006576 biolink:NamedThing Hepatic vascular malformations hp0009lx5z Liver vascular malformations UMLS:C1861790 human_phenotype owl:Class HP:0008193 biolink:NamedThing Primary gonadal insufficiency hp0009lx5z UMLS:C1859014 owl:Class HP:0025229 biolink:NamedThing Triggered by vestibular stimulation Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair. hp0009lx5z Vestibular stimulation triggered attacks|Vestibular stimulation triggered symptoms 2016-12-10 14:30:38+00:00 HPO:probinson owl:Class HP:0025565 biolink:NamedThing Anterior chamber cells grade 3+ Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp0009lx5z 2017-12-14 13:23:54+00:00 HPO:probinson owl:Class HP:0010833 biolink:NamedThing Spontaneous pain sensation Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. hp0009lx5z peter 2010-07-10T07:19:19Z UMLS:C4023690 human_phenotype owl:Class HP:0030599 biolink:NamedThing Abnormal Estermann grid perimetry test hp0009lx5z UMLS:C4073071 owl:Class HP:0032502 biolink:NamedThing Exacerbated by barbiturate medication Applied to a sign or symptom that is worsened by taking barbituates. hp0009lx5z Barbiturates produce worsening 2019-05-23 22:55:06+00:00 peter owl:Class HP:0008691 biolink:NamedThing Solitary bladder diverticulum Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder. hp0009lx5z UMLS:C4024639 human_phenotype owl:Class HP:0002343 biolink:NamedThing Normal pressure hydrocephalus A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. hp0009lx5z Normal-pressure hydrocephalus Normal pressure hydrocephalus rarely occurs in patients younger than 60 years. UMLS:C0020258|SNOMEDCT_US:30753002|MSH:D006850 owl:Class HP:0025153 biolink:NamedThing Transient Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. hp0009lx5z 2016-12-03 22:19:26+00:00 HPO:probinson owl:Class HP:0011059 biolink:NamedThing Localized periodontitis A localized form of periodontitis. hp0009lx5z Localized periodontal disease|Localised periodontitis|Localised periodontal disease|Limited area of gum disease|Localized gum disease|Localised gum disease peter 2011-03-10T12:26:35Z UMLS:C4280344|UMLS:C4023559 human_phenotype owl:Class HP:0011305 biolink:NamedThing Partial absence of toe The absence of a phalangeal segment of a toe or hallux. hp0009lx5z Partial absence of toe|Hypophalangy of toes The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe. hecht 2012-02-12T12:20:32Z UMLS:C4021169 human_phenotype owl:Class HP:0032768 biolink:NamedThing Focal aware autonomic seizure with pupillary dilation/constriction A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0030886 biolink:NamedThing Abnormal lymphocyte apoptosis A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes. hp0009lx5z UMLS:C4280725 owl:Class HP:0001607 biolink:NamedThing Subglottic stenosis hp0009lx5z SNOMEDCT_US:22668006|UMLS:C0238441 human_phenotype owl:Class HP:0000659 biolink:NamedThing Peters anomaly A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. hp0009lx5z UMLS:C0344559|MSH:C537884|SNOMEDCT_US:204153003 human_phenotype owl:Class HP:0040036 biolink:NamedThing Onychogryposis of fingernail Thickened fingernails. hp0009lx5z Overgrowth and curving of fingernail HPO:skoehler UMLS:C4022477 owl:Class HP:0032413 biolink:NamedThing Diffuse subcortical band heterotopia Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain. hp0009lx5z Subcortical band heterotopia diffuse 2019-02-24 21:25:58+00:00 peter owl:Class HP:0025005 biolink:NamedThing Thickening of glomerular capillary wall Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. hp0009lx5z 2016-08-06 22:31:55+00:00 HPO:probinson owl:Class HP:0031172 biolink:NamedThing Sectoral retinitis pigmentosa A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration. hp0009lx5z 2017-06-18 20:05:46+00:00 peter owl:Class HP:0005765 biolink:NamedThing Sacral meningocele hp0009lx5z SNOMEDCT_US:95478002|UMLS:C0521556 human_phenotype owl:Class HP:0030293 biolink:NamedThing Fibular metaphyseal irregularity Irregularity of the normally smooth surface of a metaphysis of a fibula. hp0009lx5z Irregularity of wide portion of calf bone UMLS:C4022532 owl:Class HP:0032876 biolink:NamedThing Focal aware cognitive seizure with conduction dysphasia/aphasia A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0430008 biolink:NamedThing Accessory eyelid The presence of more than the normal number of eyelids. hp0009lx5z Double eyelid|Extra eyelid UMLS:C4280275|UMLS:C0266576|SNOMEDCT_US:24606006 owl:Class HP:0004977 biolink:NamedThing Bilateral radial aplasia Missing radius bone on both sides associated with congenital failure of development. hp0009lx5z Bilateral absence of radius HP:0005870 UMLS:C1848840 human_phenotype owl:Class HP:0008132 biolink:NamedThing Medial rotation of the medial malleolus hp0009lx5z UMLS:C3805726 human_phenotype owl:Class HP:0031590 biolink:NamedThing Asthenopia Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache. hp0009lx5z Eye strain 2017-10-14 13:28:32+00:00 peter owl:Class HP:0011269 biolink:NamedThing Bifid tragus Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak. hp0009lx5z Tragus, bifid|Notched tragus peter 2011-12-18T07:56:56Z UMLS:C4021173 human_phenotype owl:Class HP:0006470 biolink:NamedThing Thin long bone diaphyses Decreased width of the diaphysis of long bones. hp0009lx5z Thin shaft of long bone|Thin diaphyses of long bones UMLS:C1859449 human_phenotype owl:Class HP:0008020 biolink:NamedThing Cone dystrophy Inherited progressive cone degeneration. hp0009lx5z Progressive cone degeneration|Progressive cone dystrophy HP:0007789 UMLS:C0730290|UMLS:C3665342 owl:Class HP:0032600 biolink:NamedThing Renal tubular epithelial cell hyaline droplets Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. hp0009lx5z peter owl:Class HP:0008014 biolink:NamedThing Central fundal arteriolar microaneurysms Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc. hp0009lx5z UMLS:C4024755 human_phenotype owl:Class HP:0030406 biolink:NamedThing Primary peritoneal carcinoma A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum. hp0009lx5z UMLS:C1514428 owl:Class HP:0031211 biolink:NamedThing Elevated cholesterol ester level An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol. hp0009lx5z Increased cholesteryl esters|Elevated cholesteryl ester level|Increased cholesterol esters 2017-07-02 11:04:47+00:00 The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis. peter HP:0500010 owl:Class HP:0002849 biolink:NamedThing Absence of lymph node germinal center Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. hp0009lx5z Lymphoid germinal center defect|Lymph nodes lack germinal centre|Absence of lymph node germinal centre|Lymph nodes lack germinal center|Lymphoid germinal centre defect UMLS:C1847383 human_phenotype owl:Class HP:0100233 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe. hp0009lx5z Speckled calcifications in the end part of the innermost bone of the pinky toe|Speckled calcifications in the end part of the innermost bone of the pinkie toe|Speckled calcifications in the end part of the innermost bone of the little toe doelkens 2010-06-24T05:04:53Z UMLS:C4022188 human_phenotype owl:Class HP:0008439 biolink:NamedThing Lumbar hemivertebrae Absence of one half of the vertebral body in the lumbar spine. hp0009lx5z SNOMEDCT_US:93167001|UMLS:C0432149 human_phenotype owl:Class HP:0012760 biolink:NamedThing Impaired social reciprocity A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first. hp0009lx5z peter 2014-04-03T12:52:44Z UMLS:C4022736 human_phenotype owl:Class HP:0007536 biolink:NamedThing Aplasia cutis congenita of midline scalp vertex hp0009lx5z UMLS:C4024849 human_phenotype owl:Class HP:0012576 biolink:NamedThing Glomerular C3 deposition The presence of complement 3 deposits in the glomerulus. hp0009lx5z C3 nephropathy|Renal C3 deposition peter 2014-01-16T01:08:21Z UMLS:C4022837 human_phenotype owl:Class HP:0020077 biolink:NamedThing Carnitinuria An elevated level of carnitine in the urine. hp0009lx5z 2019-02-25 13:29:26+00:00 robinp owl:Class HP:0001008 biolink:NamedThing Accumulation of melanosomes in melanocytes hp0009lx5z UMLS:C1843389 human_phenotype owl:Class HP:0011477 biolink:NamedThing Upbeat nystagmus In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient. hp0009lx5z In most cases, paramedian lesions in the medulla oblongata or the midbrain are found, for example, in patients with multiple sclerosis, brainstem ischemia or tumors, or Wernicke's encephalopathy. peter 2012-04-01T10:54:17Z UMLS:C0585545|SNOMEDCT_US:307677002 human_phenotype owl:Class HP:0003116 biolink:NamedThing Abnormal echocardiogram An abnormality detectable by sonography of the heart (echocardiography). hp0009lx5z Abnormal echocardiogram|Abnormal echocardiography Note that while structural heart anomalies can cause abnormal echocardiograpy findings, structural abnormalities are detectable by multiple imaging modalities and should be coded using terms from the hierarchy under 'Abnormality of cardiac morphology' (HP:0001627). SNOMEDCT_US:169241000|UMLS:C0476369 human_phenotype owl:Class HP:0033138 biolink:NamedThing Right atrial thrombus A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart. hp0009lx5z 2020-09-09 13:51:57+00:00 peter owl:Class HP:0011715 biolink:NamedThing Trifascicular block Abnormal conduction in all three divisions of the intraventricular conducting tissue. hp0009lx5z peter 2012-04-11T08:10:14Z SNOMEDCT_US:86014007|UMLS:C0155707 human_phenotype owl:Class HP:0025305 biolink:NamedThing Quotidian Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours). hp0009lx5z 2016-12-21 00:57:17+00:00 HPO:probinson owl:Class HP:0025304 biolink:NamedThing Periodic Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length. hp0009lx5z Cyclic|Cyclical 2016-12-21 00:55:09+00:00 HPO:probinson owl:Class HP:0010510 biolink:NamedThing Hypermobility of toe joints An ability of the toe joints to move beyond their normal range of motion. hp0009lx5z peter 2009-09-19T10:15:12Z UMLS:C4023798 human_phenotype owl:Class HP:0000021 biolink:NamedThing Megacystis Dilatation of the bladder postnatally. hp0009lx5z HP:0002838 MSH:C536139|UMLS:C1855311 human_phenotype owl:Class HP:0003529 biolink:NamedThing Parathormone-independent increased renal tubular calcium reabsorption An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. hp0009lx5z Parathormone-independent increased renal tubular Ca2+ reabsorption|Parathormone-independent increased renal tubular Ca reabsorption This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis. UMLS:C4025604 human_phenotype owl:Class HP:0032915 biolink:NamedThing Focal aware vocal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0011363 biolink:NamedThing Abnormality of hair growth rate Hair whose growth rate deviates from the norm. hp0009lx5z Abnormality of speed of hair growth|Abnormality of pace of hair growth|Abnormality of hair growth rate Hair growth rate is normally about 1.25 centimeters per month. peter 2012-03-01T09:46:36Z UMLS:C4023396 human_phenotype owl:Class HP:0003915 biolink:NamedThing Lytic defects of the humeral metaphysis hp0009lx5z UMLS:C4025512 human_phenotype owl:Class HP:0025012 biolink:NamedThing Status cribrosum Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations. hp0009lx5z 2016-08-07 23:40:40+00:00 HPO:probinson owl:Class HP:0033918 biolink:NamedThing Renal arteriole medial hypertrophy Increased thickness of middle layer of the arterioles of the kidney. hp0009lx5z Medial hypertrophy within arterioles 2021-06-23 23:31:33+00:00 peter owl:Class HP:0000300 biolink:NamedThing Oval face A face with a rounded and slightly elongated outline. hp0009lx5z Oval face|Oval facies|Oval facial shape UMLS:C1849025 human_phenotype owl:Class HP:0033000 biolink:NamedThing Subglottic laryngitis Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure. hp0009lx5z Pseudocroup|Croup|Viral croup|Subglottic laryngitis|Spasmodic croup|Laryngitis peter owl:Class HP:0010918 biolink:NamedThing Abnormal circulating cysteine concentration An abnormality of a cysteine metabolic process. hp0009lx5z peter 2010-12-11T11:45:39Z UMLS:C4023652 human_phenotype owl:Class HP:0011846 biolink:NamedThing Osteoblastoma A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. hp0009lx5z peter 2012-05-09T08:34:41Z UMLS:C0029417|MSH:D018215|SNOMEDCT_US:55333008 human_phenotype owl:Class HP:0001256 biolink:NamedThing Intellectual disability, mild Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. hp0009lx5z Intellectual disability, mild|Mild mental retardation|Mental retardation, borderline-mild|Mild and nonprogressive mental retardation|Mental retardation, mild HP:0006908|HP:0007119 SNOMEDCT_US:86765009|UMLS:C0026106 human_phenotype owl:Class HP:0100857 biolink:NamedThing Flat sella turcica An abnormally flat sella turcica. hp0009lx5z doelkens 2011-11-30T10:02:07Z UMLS:C4021952 human_phenotype owl:Class HP:0031226 biolink:NamedThing Perinephric fluid collection An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography. hp0009lx5z 2017-07-02 12:16:46+00:00 peter owl:Class HP:0010851 biolink:NamedThing EEG with burst suppression The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. hp0009lx5z Burst suppression can occur in a generalized or lateralized distribution and is often a sign of severe encephalopathy. Generally, an interburst interval of 30 seconds or less is associated with a better prognosis than longer interburst intervals (>30 sec). Burst suppression is an electroencephalogram (EEG) pattern in which high voltage activity (burst) and flatline (suppression) periods alternate systematically but quasiperiodically (almost periodic but with variations in inter- and intra-burst duration) is a state of profound brain inactivation. peter 2010-07-11T08:02:41Z UMLS:C1969156 human_phenotype owl:Class HP:0003080 biolink:NamedThing Hydroxyprolinuria An increased concentration of 4-hydroxy-L-proline in the urine. hp0009lx5z Elevated urinary hydroxyproline UMLS:C0948585 human_phenotype owl:Class HP:0032035 biolink:NamedThing Lower eyelid laxity Abnormally lax lower eyelid associated with tissue relaxation. hp0009lx5z 2018-09-01 14:53:46+00:00 peter owl:Class HP:0008615 biolink:NamedThing Adult onset sensorineural hearing impairment The presence of sensorineural deafness with late onset. hp0009lx5z Late sensorineural hearing loss|Sensorineural deafness, late-onset HP:0008532|HP:0008599 UMLS:C4021534 human_phenotype owl:Class HP:0012518 biolink:NamedThing Abnormal circle of Willis morphology An anomaly of the circle of Willis, also known as the cerebral arterial circle. hp0009lx5z Abnormality of the cerebral arterial circle The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries. peter 2013-12-09T07:03:02Z UMLS:C4022868 human_phenotype owl:Class HP:0008970 biolink:NamedThing Scapulohumeral muscular dystrophy hp0009lx5z MSH:C562932|SNOMEDCT_US:240074006|UMLS:C0410192 human_phenotype owl:Class HP:0033414 biolink:NamedThing Lower extremity hypokinesia Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. hp0009lx5z Hypokinesia of the lower extremities 2021-01-09 16:33:56+00:00 peter owl:Class HP:0033413 biolink:NamedThing Upper extremity hypokinesia Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. hp0009lx5z Hypokinesia of the upper extremities 2021-01-09 16:33:49+00:00 peter owl:Class HP:0012033 biolink:NamedThing Sacral lipoma Presence of a lipoma in the region of the sacrum. hp0009lx5z peter 2012-07-27T01:37:57Z UMLS:C4021835 human_phenotype owl:Class HP:0032473 biolink:NamedThing Decreased urine urobilinogen An abnormally reduced concentration of urobilinogen in the urine. hp0009lx5z 2019-04-09 11:54:30+00:00 Urinary urobilinogen can be reduced or absent if reduced amounts of bilirubin are excreted into the intestinal tract. peter owl:Class HP:0001634 biolink:NamedThing Mitral valve prolapse One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. hp0009lx5z Mitral valve prolapse can be associated with mitral regurgitation. MSH:D008945|SNOMEDCT_US:8074002|SNOMEDCT_US:409712001|Fyler:1533|UMLS:C0026267 human_phenotype owl:Class HP:0001343 biolink:NamedThing Kernicterus Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction. hp0009lx5z UMLS:C0022610|SNOMEDCT_US:74925009|MSH:D007647|SNOMEDCT_US:50143004 human_phenotype owl:Class HP:0031431 biolink:NamedThing Persistent repetition of words Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others. hp0009lx5z 2017-09-16 12:14:57+00:00 peter owl:Class HP:0430020 biolink:NamedThing Abnormality of levator labii superioris alaeque nasi muscle An abnormality of the levator labii superioris alaeque nasi muscle. hp0009lx5z UMLS:C4073202 owl:Class HP:0010857 biolink:NamedThing EEG with periodic abnormalities Periodically recurring abnormalities in the EEG. hp0009lx5z EEG: periodic abnormalities peter 2010-07-11T08:39:39Z UMLS:C4021211 human_phenotype owl:Class HP:0011200 biolink:NamedThing EEG with generalized polymorphic epileptiform discharges Generalized epileptiform discharges of different shapes and frequencies. hp0009lx5z EEG with generalised polymorphic epileptiform discharges hecht 2011-11-19T11:19:04Z UMLS:C4023474 human_phenotype owl:Class HP:0011961 biolink:NamedThing Non-obstructive azoospermia Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. hp0009lx5z Testicular azoospermia peter 2012-07-16T12:22:54Z UMLS:C4021107 human_phenotype owl:Class HP:0025559 biolink:NamedThing Coronary cataract A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. hp0009lx5z 2017-12-13 13:04:32+00:00 HPO:probinson owl:Class HP:0030325 biolink:NamedThing Cervicomedullary schisis Fissure within the spinal cord of the neck. hp0009lx5z UMLS:C4022510 owl:Class HP:0001737 biolink:NamedThing Pancreatic cysts A cyst of the pancreas that possess a lining of mucous epithelium. hp0009lx5z Multiple pancreatic cysts|Pancreatic cyst|Pancreatic cysts Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium. MSH:D010181|UMLS:C0030283|UMLS:C1860394|SNOMEDCT_US:31258000 human_phenotype owl:Class HP:0025141 biolink:NamedThing Gingival calcification Ectopic deposition of calcium salts found in the gingiva. hp0009lx5z Gingival calcifications 2016-11-27 14:27:44+00:00 HPO:probinson owl:Class HP:0025166 biolink:NamedThing Thickened elastic fibers in the dermis An increase of the diameter of elastic fibers in the dermis. hp0009lx5z Thickened elastic fibres in the dermis 2016-12-04 13:54:31+00:00 HPO:probinson owl:Class HP:0007549 biolink:NamedThing Desquamation of skin soon after birth hp0009lx5z UMLS:C1842714 human_phenotype owl:Class HP:0008541 biolink:NamedThing Superiorly displaced ears hp0009lx5z High set ears UMLS:C1850190 human_phenotype owl:Class HP:0031665 biolink:NamedThing Midsystolic murmur A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern. hp0009lx5z 2017-12-17 16:17:45+00:00 A common cause of midsystolic murmurs in adults is aortic stenosis. peter owl:Class HP:0500249 biolink:NamedThing Abnormal circulating ethanolamine concentration Any deviation from the normal concentration of ethanolamine in circulation. hp0009lx5z Abnormal ethanolamine levels in the blood 2019-02-26 16:08:51+00:00 owl:Class HP:0007485 biolink:NamedThing Absence of subcutaneous fat Lack of subcutaneous adipose tissue. hp0009lx5z General absence of subcutaneous fat|Absent fat below the skin|Lack of fatty tissue below the skin HP:0007519 UMLS:C0241267|UMLS:C4024855 human_phenotype owl:Class HP:0012208 biolink:NamedThing Immotile sperm A lack of mobility of ejaculated sperm. hp0009lx5z Nonmotile sperm peter 2013-03-12T12:24:28Z UMLS:C4023001 owl:Class HP:0041069 biolink:NamedThing Chronic (near) absent circulating IgG1 A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured. hp0009lx5z Chronic (near) absent IgG1 in blood owl:Class HP:0041068 biolink:NamedThing Chronic decreased circulating IgG1 A lasting decrease of immunoglobulin G1 (IgG1) in the blood. hp0009lx5z Chronic decreased IgG1 in blood owl:Class HP:0007341 biolink:NamedThing Diffuse swelling of cerebral white matter hp0009lx5z UMLS:C1858855 human_phenotype owl:Class HP:0032069 biolink:NamedThing Anti-thyroglobulin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. hp0009lx5z 2018-09-30 14:43:28+00:00 The autoimmune thyroid diseases (AITD), Graves' disease (GD) and Hashimoto's thyroiditis (HT) are most common endocrine disorders in humans. Both disorders are characterized by lymphocytic infiltration of the thyroid gland and the production of autoantibodies (aAb) against proteins that are thyroid-specific or expressed predominantly in the thyroid. The three main autoantigens are thyroperoxidase (TPO), thyroglobulin (Tg), and thyrotropin hormone receptor. peter owl:Class HP:0008293 biolink:NamedThing Long-chain dicarboxylic aciduria An increase in the level of long-chain dicarboxylic acid in the urine. hp0009lx5z UMLS:C1837273 owl:Class HP:0008182 biolink:NamedThing Adrenocortical hypoplasia hp0009lx5z Small adrenal cortex UMLS:C4024719 human_phenotype owl:Class HP:0004746 biolink:NamedThing Glomerular subendothelial electron-dense deposits Electron dense deposits at the glomerular basement membrane, hp0009lx5z Membranoproliferative glomerulonephritis type II|Dense deposit disease Subendothelial electron-dense deposits are a characteristc feature of dense-deposit disease. MSH:D015432|SNOMEDCT_US:59479006|UMLS:C0268743 owl:Class HP:0410062 biolink:NamedThing Increased level of galactitol in urine An increase in the level of galactitol in the urine. hp0009lx5z 2018-01-29 22:38:29+00:00 Galactitol is the reduction product of galactose. ORCID:0000-0001-5208-3432 owl:Class HP:0002510 biolink:NamedThing Spastic tetraplegia Spastic paralysis affecting all four limbs. hp0009lx5z Spastic quadriplegia HP:0001280 UMLS:C0426970|SNOMEDCT_US:192965001|MSH:D011782 human_phenotype owl:Class HP:0003799 biolink:NamedThing Marked delay in bone age hp0009lx5z Markedly retarded bone age|Marked retardation in skeletal maturation|Marked delay in bone age HP:0005742|HP:0005843 UMLS:C1868549 human_phenotype owl:Class HP:0003219 biolink:NamedThing Ethylmalonic aciduria An increased concentration of ethylmalonic acid in the urine. hp0009lx5z Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group. UMLS:C1865353 owl:Class HP:0033872 biolink:NamedThing Cortical peritubular capillary lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp0009lx5z 2021-06-23 19:22:33+00:00 peter owl:Class HP:0004864 biolink:NamedThing Refractory sideroblastic anemia A type of sideroblastic anemia that is not responsive to treatment. hp0009lx5z Refractory sideroblastic anaemia UMLS:C0002896|MSH:D000756|SNOMEDCT_US:41841004 human_phenotype owl:Class HP:0006749 biolink:NamedThing Malignant gastrointestinal tract tumors hp0009lx5z Malignant GI tract tumors|Malignant gastrointestinal tract tumours|Malignant GI tract tumours SNOMEDCT_US:428905002|UMLS:C0685938|MSH:D005770 human_phenotype owl:Class HP:0007146 biolink:NamedThing Bilateral basal ganglia lesions hp0009lx5z UMLS:C4024932 human_phenotype owl:Class HP:0008259 biolink:NamedThing Adrenocorticotropin receptor defect Adrenal insufficiency secondary to a defect in the ACTH receptor. hp0009lx5z Adrenocorticotropic hormone-resistant adrenal insufficiency|ACTH receptor defect|ACTHR defect UMLS:C4021548 human_phenotype owl:Class HP:0031718 biolink:NamedThing Consecutive exotropia Exotropia in an individual who has previously had esotropia or esophoria. hp0009lx5z 2018-01-13 13:36:10+00:00 peter owl:Class HP:0033241 biolink:NamedThing Polyalveolar lobe An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold. hp0009lx5z 2020-11-24 11:11:20+00:00 Indiviudals with polyalveolar lobe have some pulmonary function abnormalities, specifically a decrease in airway conductance, and forced expiratory volume. peter owl:Class HP:0031229 biolink:NamedThing Increased incisura length The length of the incisura from the upper to lower border is greater than that observed in the average population. hp0009lx5z 2017-07-02 12:58:49+00:00 peter owl:Class HP:0025017 biolink:NamedThing Capillary fragility Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises). hp0009lx5z 2016-08-12 11:50:33+00:00 The formation of petechiae distal to a tourniquet or sphygmomanometer on release of pressure is known as the Rumpel-Leede sign. This sign was reported in 1909 by Theodor Rumpel, and again independently in 1911 by Carl Stockbridge Leede. Historically, the tourniquet test (or Rumpel-Leede Capillary-Fragility Test) was used to assess patients for thrombocytopenia and capillary fragility. Today, the Rumpel-Leede sign may be observed iatrogenically in the context of continuous blood-pressure monitoring [PMID:24382085]. HPO:probinson owl:Class HP:0025018 biolink:NamedThing Abnormal capillary physiology A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. hp0009lx5z 2016-08-12 11:56:48+00:00 HPO:probinson owl:Class HP:0025402 biolink:NamedThing Square-wave jerks Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion. hp0009lx5z 2017-04-22 14:07:11+00:00 HPO:probinson owl:Class HP:0004263 biolink:NamedThing Large capitate bone hp0009lx5z UMLS:C4025383 human_phenotype owl:Class HP:0007687 biolink:NamedThing Unilateral ptosis A unilateral form of ptosis. hp0009lx5z Dropping of one upper eyelid UMLS:C1866806 human_phenotype owl:Class HP:3000048 biolink:NamedThing Abnormal great auricular nerve morphology Any structural anomaly of a great auricular nerve. hp0009lx5z The great auricular nerve originates from the cervical plexus and ascends to the posterior inferior region of the parotid gland, where it divides into several small branches. The nerve supplies sensation for an extensive area of the face including the skin over the parotid gland and the mastoid process and the surface of the external ear. The great auricular nerve winds around the posterior aspect of the sternocleidomastoid muscle. After perforating the deep fascia, it ascends upon the sternocleidomastoid muscle beneath the platysma to the parotid gland, where it divides into an anterior and a posterior branch. The anterior branch provides sensory innervation to the skin overlying the parotid gland and communicates with the facial nerve in the substance of the gland. The posterior branch innervates the skin over the mastoid and the posterior surface of the auricle except at its upper part. vasilevs 2015-08-07T01:08:45Z UMLS:C4073256 human_phenotype owl:Class HP:0011455 biolink:NamedThing Absent malleus Aplasia of the malleus. hp0009lx5z peter 2012-03-19T09:40:08Z UMLS:C0576900|SNOMEDCT_US:300169003 human_phenotype owl:Class HP:0025359 biolink:NamedThing Polygonal renal calices An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). hp0009lx5z Polygonal-shaped calices|Polygonal calices 2017-02-17 12:14:46+00:00 HPO:probinson owl:Class HP:0009718 biolink:NamedThing Subependymal giant-cell astrocytoma A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis. hp0009lx5z peter 2009-01-31T12:07:02Z UMLS:C0205768|SNOMEDCT_US:449799008|SNOMEDCT_US:1586004|MSH:D001254 human_phenotype owl:Class HP:0007201 biolink:NamedThing Cerebral artery atherosclerosis Atherosclerosis (HP:0002621) of a cerebral artery. hp0009lx5z Plaque build-up in cerebral artery UMLS:C4024924 human_phenotype owl:Class HP:0031583 biolink:NamedThing Tessier number 11 facial cleft An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal. hp0009lx5z 2017-10-14 12:51:12+00:00 peter owl:Class HP:0032520 biolink:NamedThing Masseter muscular weakness Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw. hp0009lx5z 2019-05-26 11:14:27+00:00 peter owl:Class HP:0008419 biolink:NamedThing Intervertebral disc degeneration The presence of degenerative changes of intervertebral disk. hp0009lx5z Degenerative intervertebral disc|Degeneration of intervertebral disks|Degeneration of intervertebral discs|Degenerative intervertebral disk|Degenerative disc disease SNOMEDCT_US:77547008|MSH:D055959|UMLS:C0158266 human_phenotype owl:Class HP:0011578 biolink:NamedThing Transitional atrioventricular canal defect A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices. hp0009lx5z peter 2012-04-08T10:58:47Z UMLS:C4023289 human_phenotype owl:Class HP:0033185 biolink:NamedThing Triggered by EBV infection Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus. hp0009lx5z Triggered by Epstein Barr virus infection 2020-10-04 11:48:39+00:00 peter owl:Class HP:0011432 biolink:NamedThing High maternal serum alpha-fetoprotein An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. hp0009lx5z Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. peter 2012-03-17T07:45:07Z UMLS:C4023361 human_phenotype owl:Class HP:4000030 biolink:NamedThing Anti-reticulin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin. hp0009lx5z 2021-05-02 15:01:52+00:00 robinp owl:Class HP:0410308 biolink:NamedThing Decreased specific antibody response to infection A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection. hp0009lx5z 2019-01-30 19:50:11+00:00 owl:Class HP:0003134 biolink:NamedThing Abnormality of peripheral nerve conduction An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). hp0009lx5z Sensory and motor nerve conduction abnormalities|Abnormal peripheral nerve transmission A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introducted to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured. HP:0006832|HP:0007186 UMLS:C4020690 human_phenotype owl:Class HP:0030275 biolink:NamedThing Ectopic scrotum Scrotum in a position other than the usual position inferior to the base of the penis. hp0009lx5z Abnormal scrotum position This term is distinguished from Accessory scrotum, as there is no significant scrotal tissue in the normal position in ectopic scrotum. This definition excludes the finding of Penoscrotal transposition or Overriding scrotum. Usually the scrotum is split and there is unilateral ectopia. The ectopic scrotum is typically located supra-inguinally, but may be located elsewhere such as on the upper thigh. A testis is commonly present in the ectopic scrotum. Ectopic scrotum can be accompanied by Chordee or Bifid penis, which should be coded separately, and by renal and non-urogenital malformations. UMLS:C4022542 owl:Class HP:0010594 biolink:NamedThing Abnormality of the proximal fibular epiphysis Any abnormality of the proximal epiphysis of the fibula. hp0009lx5z Abnormality of the innermost end part of calf bone sandra1 2009-10-22T03:04:39Z UMLS:C4023779 human_phenotype owl:Class HP:0010593 biolink:NamedThing Abnormality of fibular epiphyses hp0009lx5z Abnormality of the end part of the calf bone sandra1 2009-10-22T03:03:34Z UMLS:C4023780 human_phenotype owl:Class HP:0030102 biolink:NamedThing Reduced muscle fiber alpha sarcoglycan A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. hp0009lx5z Reduced muscle fibre alpha sarcoglycan UMLS:C4022643 owl:Class HP:0011886 biolink:NamedThing Hyphema Bleeding in the anterior chamber of the eye. hp0009lx5z peter 2012-06-02T10:49:36Z MSH:D006988|UMLS:C0020581|SNOMEDCT_US:75229002 human_phenotype owl:Class HP:0011818 biolink:NamedThing Nasofrontal encephalocele hp0009lx5z Naso-frontal encephalocele peter 2012-04-29T09:20:25Z SNOMEDCT_US:253106003|UMLS:C0431291 human_phenotype owl:Class HP:0430012 biolink:NamedThing Incomplete ossification of palatine bone Failure to complete ossification (maturation and calcification) of the palatine bone. hp0009lx5z Incomplete calcification of palatine bone|Incomplete formation of palatine bone|Incomplete mineralization of palatine bone SNOMEDCT_US:93595006|UMLS:C0685213 owl:Class HP:0430003 biolink:NamedThing Abnormality of the palatine bone An abnormality of the palatine bone. hp0009lx5z Deformity of the palatine bone|Malformation of the palatine bone|Anomaly of the palatine bone UMLS:C4021871 owl:Class HP:0041056 biolink:NamedThing Hot cross bun sign A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI). hp0009lx5z It is commonly associated with atrophy of the pons, cerebellum, and putamen in multiple system atrophy (MSA). owl:Class HP:0410033 biolink:NamedThing Unilateral alveolar cleft of maxilla One sided alveolar cleft of the maxilla. hp0009lx5z 2017-06-20 23:37:01+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0012152 biolink:NamedThing Foveoschisis Splitting of the retinal layers in the macula. hp0009lx5z Retinoschisis involving the fovea peter 2012-09-16T09:06:26Z UMLS:C2674407 human_phenotype owl:Class HP:0006677 biolink:NamedThing Prolonged QRS complex Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. hp0009lx5z Prolonged QRS complex on EKG SNOMEDCT_US:991002|UMLS:C0235475 human_phenotype owl:Class HP:0400003 biolink:NamedThing Focal absence of the external ear Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe). hp0009lx5z UMLS:C4021874 owl:Class HP:0032025 biolink:NamedThing Reduced serum alpha-1-antitrypsin A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. hp0009lx5z 2018-09-01 14:16:39+00:00 peter owl:Class HP:0020108 biolink:NamedThing Unusual parasitic infection An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite. hp0009lx5z 2019-04-08 19:30:24+00:00 robinp owl:Class HP:0000263 biolink:NamedThing Oxycephaly Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. hp0009lx5z Acrocephaly MSH:D003398 owl:Class HP:0000262 biolink:NamedThing Turricephaly Tall head relative to width and length. hp0009lx5z Tall shaped head|Tower skull shape|Tall shaped skull|Tower cranium shape|Tall shaped cranium Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape. HP:0001356 MSH:D003398|UMLS:C0030044|SNOMEDCT_US:48069004 owl:Class HP:0004036 biolink:NamedThing Long styloid process of ulna hp0009lx5z UMLS:C4025426 human_phenotype owl:Class HP:0031473 biolink:NamedThing Hostility Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults. hp0009lx5z 2017-09-17 16:45:08+00:00 peter owl:Class HP:0410231 biolink:NamedThing Increased anti-egg IgE antibody level Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid. hp0009lx5z 2018-10-03 21:39:10+00:00 owl:Class HP:0410273 biolink:NamedThing Retropharyngeal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx. hp0009lx5z 2018-10-30 02:17:49+00:00 NCIT:C3085 owl:Class HP:0005170 biolink:NamedThing Complete heart block with broad QRS complexes A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex. hp0009lx5z UMLS:C1861987 human_phenotype owl:Class HP:0006702 biolink:NamedThing Coronary artery dissection Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery. hp0009lx5z MSH:C565153|UMLS:C1852540 human_phenotype owl:Class HP:0004490 biolink:NamedThing Calvarial hyperostosis Excessive growth of the calvaria. hp0009lx5z Enlargement of calvarial bones|Increased ossification of calvarial bones|Hypertrophy of calvarial bones|Hyperostosis of calvarial bones|Overgrowth of calvarial bones|Excessive growth of calvarial bones|Overgrowth of skullcap|Thick calvarial bones The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw. UMLS:C4280519|MSH:C537963|UMLS:C1863351|UMLS:C4280520 human_phenotype owl:Class HP:0007607 biolink:NamedThing Hypohidrotic ectodermal dysplasia hp0009lx5z SNOMEDCT_US:7731005|SNOMEDCT_US:239007005|UMLS:C0162359|MSH:D053358 human_phenotype owl:Class HP:0007286 biolink:NamedThing Horizontal jerk nystagmus Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other. hp0009lx5z Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. UMLS:C4024910 human_phenotype owl:Class HP:0011264 biolink:NamedThing Discontinuous ascending root of helix Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid. hp0009lx5z Helix, discontinuous ascending root peter 2011-12-18T07:31:00Z UMLS:C4021176 human_phenotype owl:Class HP:0100184 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 4th toe hp0009lx5z Fragmentation of the end part of the middle bone of the 4th toe doelkens 2010-06-24T04:54:13Z UMLS:C4022237 human_phenotype owl:Class HP:0020188 biolink:NamedThing Anterior predominant pachygyria with 5-10 mm cortical thickness Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. hp0009lx5z robinp 2019-09-03 12:58:34+00:00 owl:Class HP:0005235 biolink:NamedThing Jejunal atresia A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. hp0009lx5z HP:0011101 MSH:D007409|SNOMEDCT_US:204702007|SNOMEDCT_US:360491009|UMLS:C0266175 owl:Class HP:0006994 biolink:NamedThing Diffuse leukoencephalopathy hp0009lx5z UMLS:C1868514 human_phenotype owl:Class HP:0025211 biolink:NamedThing Triggered by ethanol ingestion Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol. hp0009lx5z Triggered by alcohol ingestion|Ethanol ingestion triggered symptoms 2016-12-10 13:50:14+00:00 HPO:probinson owl:Class HP:0011621 biolink:NamedThing Gerbode ventricular septal defect A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve. hp0009lx5z Left ventricular - right atrial communication Echocardiography may visualize a jet across a small defect between left ventricle and right atrium. peter 2012-04-08T09:34:01Z UMLS:C4023265|SNOMEDCT_US:41893002|UMLS:C0265812 human_phenotype owl:Class HP:0006462 biolink:NamedThing Generalized bone demineralization A generalized decrease in bone mineral density. hp0009lx5z Generalised bone demineralization The terms Osteopenia or Osteoporosis should be prefered to this term, which may be obsoleted in the future. UMLS:C1833326 human_phenotype owl:Class HP:0005449 biolink:NamedThing Bridged sella turcica hp0009lx5z MSH:C566689|UMLS:C1866959 human_phenotype owl:Class HP:0012342 biolink:NamedThing Macroprolactinoma A pituitary prolactin cell adenoma of more than 10 mm diameter. hp0009lx5z peter 2013-09-13T09:50:29Z UMLS:C0344453|MSH:D015175|SNOMEDCT_US:253011004 human_phenotype owl:Class HP:0001413 biolink:NamedThing Micronodular cirrhosis A type of cirrhosis characterized by the presence of small regenerative nodules. hp0009lx5z In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy. SNOMEDCT_US:21861000|UMLS:C0267812 human_phenotype owl:Class HP:0030357 biolink:NamedThing Small cell lung carcinoma Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly. hp0009lx5z Oat cell lung cancer|Small cell lung cancer|Oat cell carcinoma of lung SNOMEDCT_US:254633006|MSH:D055752|SNOMEDCT_US:254632001|UMLS:C0149925 owl:Class HP:0031521 biolink:NamedThing Vaginal clear cell adenocarcinoma A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm. hp0009lx5z Clear cell adenocarcinoma of the vagina 2017-09-23 01:45:41+00:00 peter owl:Class HP:0003717 biolink:NamedThing Minimal subcutaneous fat hp0009lx5z Minimal fat below the skin UMLS:C1859442 human_phenotype owl:Class HP:0010772 biolink:NamedThing Anomalous pulmonary venous return A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. hp0009lx5z sdoelken 2010-04-29T10:02:26Z SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|UMLS:C0036400|MSH:D012587 human_phenotype owl:Class HP:0002151 biolink:NamedThing Increased serum lactate Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). hp0009lx5z Higher than normal levels of lactate in blood|Increased blood lactate HP:0003638 UMLS:C1836440 human_phenotype owl:Class HP:0005745 biolink:NamedThing Congenital foot contractures hp0009lx5z UMLS:C4025144 human_phenotype owl:Class HP:0007885 biolink:NamedThing Slowed horizontal saccades An abnormally slow velocity of horizontal saccadic eye movements. hp0009lx5z Saccades are rapid eye movements that align the fovea with the target. UMLS:C1856477 human_phenotype owl:Class HP:0030542 biolink:NamedThing Unaided visual acuity 0.7 LogMAR hp0009lx5z UMLS:C4073016 owl:Class HP:0006727 biolink:NamedThing T-cell acute lymphoblastic leukemias Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. hp0009lx5z UMLS:C1961099|SNOMEDCT_US:277575008|MSH:D054218|SNOMEDCT_US:128824003 human_phenotype owl:Class HP:0032598 biolink:NamedThing Blebbing of apical cytoplasm of renal tubular epithelial cells Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. hp0009lx5z peter owl:Class HP:0031939 biolink:NamedThing Conus terminalis arteriovenous malformation hp0009lx5z 2018-07-05 13:14:07+00:00 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries with location in the conus terminalis. peter owl:Class HP:0040250 biolink:NamedThing Reduced prothrombin antigen Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin. hp0009lx5z This term has been requested and created by members of the BRIDGE consortium UMLS:C4280698 owl:Class HP:0011002 biolink:NamedThing Osteopetrosis Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. hp0009lx5z Albers-Schönberg disease|Harder, denser, fracture-prone bones|Marble bone disease|Albers-Schonberg disease|Albers-Schoenberg disease sdoelken 2011-02-13T11:58:36Z SNOMEDCT_US:367489004|SNOMEDCT_US:1926006|UMLS:C0029454|MSH:D010022 human_phenotype owl:Class HP:0030887 biolink:NamedThing Increased lymphocyte apoptosis A elevation in the rate of apoptosis in lymphocytes. hp0009lx5z UMLS:C4280724 owl:Class HP:0030547 biolink:NamedThing Unaided visual acuity 1.2 LogMAR hp0009lx5z UMLS:C4073021 owl:Class HP:0031084 biolink:NamedThing Excessive insulin response to glucagon test An abnormally high increase in insulin levels following a glucagon stimulation test. hp0009lx5z 2017-05-29 00:02:23+00:00 peter owl:Class HP:0032170 biolink:NamedThing Severe varicella zoster infection An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. hp0009lx5z 2018-12-16 15:12:18+00:00 Varicella-zoster virus (VZV) is one of eight herpes viruses known to cause human infection and is distributed worldwide. Varicella zoster infections are considered to be mild and ubiquitous infections predominantly affecting the paediatric population. However, in adults and in specific groups of patients, such as those who are immunosuppressed, varicella infections can be fulminant and life threatening. peter owl:Class HP:0009740 biolink:NamedThing Aplasia of the parotid gland Absence of the parotid gland. hp0009lx5z Underdevelopment of parotid gland|Hypoplasia of parotid gland|Abnormally small parotid gland|Absence of the parotid gland peter 2009-01-31T12:51:47Z UMLS:C4024215|UMLS:C4020779|UMLS:C1400252 human_phenotype owl:Class HP:0033730 biolink:NamedThing Membranous lupus nephritis A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis hp0009lx5z Class V lupus nephritis 2021-04-16 13:42:22+00:00 peter owl:Class HP:0032381 biolink:NamedThing Hydroa vacciniforme In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation. hp0009lx5z Acute vesiculation and crusting and scarring following sun exposure 2019-02-24 14:55:08+00:00 peter owl:Class HP:0032994 biolink:NamedThing Supernumerary pulmonary fissure Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes. hp0009lx5z increased pulmonary fissure count peter owl:Class HP:0006660 biolink:NamedThing Aplastic clavicle Absence of the clavicles as a developmental defect. hp0009lx5z Absent clavicles|Aplastic clavicles|Absent collarbone UMLS:C1857665 human_phenotype owl:Class HP:0033729 biolink:NamedThing Minimal mesangial lupus nephritis A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence. hp0009lx5z Class I lupus nephritis 2021-04-16 13:41:02+00:00 peter owl:Class HP:0100860 biolink:NamedThing Dilatation of Inferior mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery . hp0009lx5z Inferior mesenteric artery aneurysm Aneurysm is considered a severe form of dilatation. doelkens 2011-11-30T10:07:35Z UMLS:C0340625|SNOMEDCT_US:195289005 human_phenotype owl:Class HP:0007236 biolink:NamedThing Recurrent subcortical infarcts hp0009lx5z UMLS:C4024918 human_phenotype owl:Class HP:0032099 biolink:NamedThing Perioral radial furrowing The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976). hp0009lx5z 2018-11-04 11:17:31+00:00 peter owl:Class HP:0001069 biolink:NamedThing Episodic hyperhidrosis Intermittent episodes of abnormally increased perspiration. hp0009lx5z Sporadic excessive sweating|Hyperhidrosis, episodic UMLS:C1857171 human_phenotype owl:Class HP:0004736 biolink:NamedThing Crossed fused renal ectopia A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. hp0009lx5z Ectopic kidney with fusion UMLS:C1835796 human_phenotype owl:Class HP:0030481 biolink:NamedThing Abnormal amplitude of light-adapted single flash electroretinogram hp0009lx5z UMLS:C4072971 owl:Class HP:0031765 biolink:NamedThing Partially accomodative esotropia A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses. hp0009lx5z Constant esotropia with an accommodative component|Constant esotropia with an accommodative element 2018-01-21 14:48:00+00:00 peter owl:Class HP:0012405 biolink:NamedThing Hypocitraturia A lower than normal concentration of citrate(3-) in the urine. hp0009lx5z Decreased urine citrate concentration peter 2013-11-09T03:54:41Z UMLS:C2673444 human_phenotype owl:Class HP:0012846 biolink:NamedThing Multiple trichilemmomata Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle. hp0009lx5z Multiple trichilemmomas peter 2014-06-06T08:07:30Z UMLS:C4021063 human_phenotype owl:Class HP:0010397 biolink:NamedThing Bullet-shaped proximal phalanx of the 2nd toe An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped innermost bone of 2nd toe doelkens 2009-07-16T11:58:15Z UMLS:C4023857 human_phenotype owl:Class HP:0410238 biolink:NamedThing Increased anti-plant product IgE antibody level Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen. hp0009lx5z 2018-10-03 23:09:00+00:00 owl:Class HP:0007572 biolink:NamedThing Hyperpigmented streaks hp0009lx5z UMLS:C1866245 human_phenotype owl:Class HP:0200133 biolink:NamedThing Lumbosacral meningocele hp0009lx5z sebastiankohler 2013-06-11T03:59:35Z UMLS:C2675557 human_phenotype owl:Class HP:0032735 biolink:NamedThing Focal aware emotional seizure with anger Focal emotional seizure with anger in which awareness is retained throughout. hp0009lx5z peter owl:Class HP:0002508 biolink:NamedThing Brainstem dysplasia A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord. hp0009lx5z Malformation of brainstem structures|Brainstem hypoplasia/dysplasia HP:0006991 UMLS:C1855677 human_phenotype owl:Class HP:0100891 biolink:NamedThing Bifid xiphoid process A cleft of the xiphoid process of the sternum. hp0009lx5z Bifid xiphisternum doelkens 2011-12-01T05:07:17Z UMLS:C4020943 human_phenotype owl:Class HP:0010540 biolink:NamedThing Advanced pneumatization of cranial sinuses A degree of pneumatization that is increased compared to age-related norms. hp0009lx5z peter 2009-09-23T10:04:21Z UMLS:C4023793 human_phenotype owl:Class HP:0004924 biolink:NamedThing Abnormal oral glucose tolerance An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. hp0009lx5z Abnormal glucose oral tolerance test UMLS:C1847425 human_phenotype owl:Class HP:0003391 biolink:NamedThing Gowers sign A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. hp0009lx5z Positive Gower sign|Gower sign|Positive Gowers sign UMLS:C0575071|SNOMEDCT_US:85905009|SNOMEDCT_US:298294005|UMLS:C0234182 human_phenotype owl:Class HP:0025014 biolink:NamedThing Subcutaneous spheroids Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray. hp0009lx5z 2016-08-12 11:18:11+00:00 This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome. HPO:probinson owl:Class HP:0005305 biolink:NamedThing Cerebral venous thrombosis Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. hp0009lx5z Blood clot in cerebral vein|Cerebral vein thrombosis|Cerebral thrombosis UMLS:C0151945|SNOMEDCT_US:95455008 human_phenotype owl:Class HP:0004030 biolink:NamedThing Patchy sclerosis of radial diaphysis hp0009lx5z UMLS:C4025431 human_phenotype owl:Class HP:0005411 biolink:NamedThing Chronic intestinal candidiasis Persistent overgrowth of Candida albicans in the gastrointestinal tract. hp0009lx5z Candida overgrowth syndrome UMLS:C4020823|UMLS:C4025199 human_phenotype owl:Class HP:0031181 biolink:NamedThing Necrolytic migratory erythema Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution. hp0009lx5z 2017-06-18 21:02:25+00:00 This feature can be a manifestation of glucagonoma and other cancers. peter owl:Class HP:0012255 biolink:NamedThing Dynein arm defect of respiratory motile cilia An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. hp0009lx5z The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another. peter 2013-04-07T09:20:03Z UMLS:C4022990 human_phenotype owl:Class HP:0030901 biolink:NamedThing Pruritis on breast Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast. hp0009lx5z owl:Class HP:0033651 biolink:NamedThing Pulmonary mycetoma A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma. hp0009lx5z Lung fungus ball 2021-02-24 12:56:44+00:00 See Figure 40 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0033951 biolink:NamedThing Cortical radial artery intraluminal organized thrombi Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. hp0009lx5z Organized thrombi within interlobular arterial lumen 2021-06-24 12:19:35+00:00 peter owl:Class HP:0009432 biolink:NamedThing Curved middle phalanx of the 3rd finger Curved appearance of the middle phalanx of the 3rd (middle) finger. hp0009lx5z Curved middle bone of the middle finger doelkens 2009-01-14T03:41:31Z UMLS:C4024366 human_phenotype owl:Class HP:0031985 biolink:NamedThing Esophageal exudate An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa. hp0009lx5z 2018-07-08 14:58:59+00:00 peter owl:Class HP:0003127 biolink:NamedThing Hypocalciuria An abnormally decreased calcium concentration in the urine. hp0009lx5z Low urine calcium levels UMLS:C0020599|SNOMEDCT_US:86353007 human_phenotype owl:Class HP:0008544 biolink:NamedThing Abnormally folded helix hp0009lx5z UMLS:C1970777 human_phenotype owl:Class HP:0040022 biolink:NamedThing Clinodactyly of the 2nd finger hp0009lx5z Second finger clinodactyly|Curvature of index finger HPO:skoehler UMLS:C4022486 owl:Class HP:0007308 biolink:NamedThing Extrapyramidal dyskinesia hp0009lx5z UMLS:C1848528 human_phenotype owl:Class HP:0033715 biolink:NamedThing Hippocampal sclerosis Atrophy with gliosis of the hippocampus with loss of neurons and the normal cortical architecture. hp0009lx5z Mesial temporal sclerosis 2021-04-07 12:37:41+00:00 peter owl:Class HP:0006882 biolink:NamedThing Severe hydrocephalus hp0009lx5z UMLS:C3278123 owl:Class HP:0031048 biolink:NamedThing Light-chain paraproteinemia An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. hp0009lx5z 2017-05-27 14:28:36+00:00 peter owl:Class HP:0005507 biolink:NamedThing Hemoglobin Barts Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. hp0009lx5z Hb Barts|Haemoglobin Barts Hb Bart is normally not present in adult blood. It makes up about 85-90 percent of hemoglobin in Hb Bart hydrops fetalis syndrome, and about 2-5 percent in HbH disease. UMLS:C3539063 human_phenotype owl:Class HP:0030590 biolink:NamedThing Abnormal Amsler grid test hp0009lx5z UMLS:C4073062 owl:Class HP:0012673 biolink:NamedThing Aplasia of the upper vagina A failure to develop of the upper vagina. hp0009lx5z Absent upper vagina The female reproductive tract primarily develops from the Mullerian ducts (MD), which form as an invagination of the coelomic epithelium and further develop into the upper two-thirds of the vagina, the uterus and the Fallopian tubes. Complete aplasia of the uterus, cervix, and upper vagina is termed Mullerian aplasia. This term refers to the aplasia of the upper roughly two thirds of the vagina that is characteristic of Mullerian aplasia. peter 2014-02-27T11:00:26Z UMLS:C4022788 human_phenotype owl:Class HP:0008984 biolink:NamedThing Neck muscle hypoplasia Underdevelopment of muscles of the neck. hp0009lx5z Hypotrophic neck muscle|Small neck muscle|Decreased size of neck muscle|Underdevelopment of neck muscle|Deficiency of neck muscle UMLS:C4280408|UMLS:C1969000|UMLS:C4280409 human_phenotype owl:Class HP:0025004 biolink:NamedThing Hallux rigidus Osteoarthritis of the metatarsophalangeal joint of the first toe. hp0009lx5z Arthritis of the big toe 2016-06-25 09:23:22+00:00 Hallux rigidus is characterised by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. HPO:probinson UMLS:C0264134|SNOMEDCT_US:6654000|MSH:D020859 owl:Class HP:0002888 biolink:NamedThing Ependymoma The presence of an ependymoma of the central nervous system. hp0009lx5z According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign. MSH:D004806|SNOMEDCT_US:443643007|UMLS:C0014474|SNOMEDCT_US:57706008|NCIT:C3017 human_phenotype owl:Class HP:0025266 biolink:NamedThing Cervical osteoarthritis Degeneration (wear and tear) of the articular cartilage of the neck joints. hp0009lx5z 2016-12-18 01:33:11+00:00 HPO:probinson owl:Class HP:0032616 biolink:NamedThing Renal interstitial immunoglobulin deposits Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). hp0009lx5z Renal interstitial immunoglobulin deposition Monoclonal immunoglobulin deposition is characterized by nonorganized electron-dense granular deposits predominantly localized in basement membranes of the kidney (other organs may additionally be affected). By light microscopy, tubular lesions are characterized by the deposition of a refractile, eosinophilic, periodic acid-Schiff (PAS)-positive, ribbon-like material along the tubular basement membrane. immunofluorescence examination of the kidney. Immunofluoerescence may show evidence of monotypic light or heavy chain fixation along tubular basement membranes. Electron microscopy can show finely to coarsely granular electron-dense deposits along the outer (interstitial) aspect of the tubular basement membranes. peter owl:Class HP:0033801 biolink:NamedThing Blistering by histological location Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. hp0009lx5z 2021-05-08 14:55:16+00:00 peter owl:Class HP:0007730 biolink:NamedThing Iris hypopigmentation An abnormal reduction in the amount of pigmentation of the iris. hp0009lx5z Light eye colour|Reduced iris pigmentation|Light eye color SNOMEDCT_US:247032003|UMLS:C0154920|SNOMEDCT_US:70397008 human_phenotype owl:Class HP:0031623 biolink:NamedThing Brow ptosis Drooping of the upper eyebrow below the superior orbital rim. hp0009lx5z Drooping brow 2017-12-16 13:48:49+00:00 Eybrow ptosis can be caused by age-related changes in the periorbital soft tissues and soft tissues of the face. peter owl:Class HP:0025083 biolink:NamedThing Elevated dermal desmosine content An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin. hp0009lx5z 2016-10-15 13:13:02+00:00 Disorders of elastosis may show an increased content of desmosines, whereas elastolytic disordersmay show a reduced content of desmosine. HPO:probinson owl:Class HP:0005510 biolink:NamedThing Transient erythroblastopenia A transient reduction in the number of erythroblasts in the circulation. hp0009lx5z Transient decrease in blood erythrocyte number An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus. UMLS:C4082199 human_phenotype owl:Class HP:0025117 biolink:NamedThing Rete ridge flattening Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance. hp0009lx5z Flattened rete pegs|Flattened rete ridges 2016-11-01 10:52:20+00:00 HPO:probinson owl:Class HP:0012299 biolink:NamedThing Long distal phalanx of finger Increased length of the distal phalanx of finger. hp0009lx5z Long outermost bone of finger peter 2013-04-12T05:48:52Z UMLS:C4021865 human_phenotype owl:Class HP:0001525 biolink:NamedThing Severe failure to thrive hp0009lx5z Marked failure to thrive|Severe faltering weight|Severe postnatal failure to thrive|Severe weight faltering HP:0008876 UMLS:C1855514 human_phenotype owl:Class HP:0001723 biolink:NamedThing Restrictive cardiomyopathy Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. hp0009lx5z Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM. HP:0005130 MSH:D002313|UMLS:C0007196|SNOMEDCT_US:415295002|SNOMEDCT_US:90828009 human_phenotype owl:Class HP:0010060 biolink:NamedThing Bullet-shaped hallux phalanx An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped bone of big toe|Bullet-shaped phalanges of the hallux doelkens 2009-05-29T12:10:46Z UMLS:C4021342 human_phenotype owl:Class HP:0032126 biolink:NamedThing Decreased proportion of unswitched memory B cells A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells. hp0009lx5z Decreased proportion of non-class-switched memory B cells|Reduced proportion of unswitched memory B cells 2018-11-22 12:53:34+00:00 peter owl:Class HP:0410390 biolink:NamedThing Decreased proportion of effector memory CD8-positive, alpha-beta T cells A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z owl:Class HP:0033498 biolink:NamedThing Segmental glomerulosclerosis away from the vascular and tubular poles Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. hp0009lx5z 2021-01-10 13:29:02+00:00 peter owl:Class HP:0020178 biolink:NamedThing Abnormal dendritic cell count A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). hp0009lx5z Dendritic cells (DC), the professional antigen-pre-senting cells that prime specific immune responses,comprise a very small percentage of circulating whiteblood cells. robinp 2019-07-06 22:25:02+00:00 owl:Class HP:0007451 biolink:NamedThing Ipsilateral lack of facial sweating hp0009lx5z UMLS:C4024874 human_phenotype owl:Class HP:0011386 biolink:NamedThing Narrow internal auditory canal Reduction in diameter of the internal auditory canal. hp0009lx5z peter 2012-03-09T07:35:00Z UMLS:C4023383 human_phenotype owl:Class HP:0032688 biolink:NamedThing Focal aware cognitive seizure with dissociation A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0006631 biolink:NamedThing Hypoplastic distal segments of scapulae hp0009lx5z Small outermost segments of shoulder blade|Small distal segments of the shoulder blade|Underdeveloped outermost segments of shoulder blade UMLS:C4025014 human_phenotype owl:Class HP:0033695 biolink:NamedThing Occupational disability This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities. hp0009lx5z 2021-03-07 23:02:06+00:00 This term does not intend to include or exclude legal definitions of occupational disability. It is included in the HPO because inability to work is a frequent manifestation of disease comparable in some ways to impairment of activities of daily living. peter owl:Class HP:0430022 biolink:NamedThing Abnormality of the sphenoid sinus An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. hp0009lx5z Abnormality of the sphenoidal sinus UMLS:C4073204 owl:Class HP:0200096 biolink:NamedThing Triangular-shaped open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. hp0009lx5z Triangular-shaped open mouth sebastiankohler 2013-06-04T03:06:03Z UMLS:C1859292 human_phenotype owl:Class HP:0010618 biolink:NamedThing Ovarian fibroma The presence of a fibroma of the ovary. hp0009lx5z Ovarian fibromas belong to the sex cord-stromal tumour group of ovarian neoplasms. Ovarian fibromas are most frequent during middle age, and rare in children. Upon gross pathological inspection, ovary fibromas are firm and white or tan. sandra1 2009-10-28T06:13:11Z UMLS:C0149951|MSH:C562391|NCIT:C3041|SNOMEDCT_US:254865006 human_phenotype owl:Class HP:0003880 biolink:NamedThing Sclerotic foci of the humerus hp0009lx5z Humeral sclerotic foci UMLS:C4021717 human_phenotype owl:Class HP:0000802 biolink:NamedThing Impotence Inability to develop or maintain an erection of the penis. hp0009lx5z Difficulty getting an erection|Difficulty getting a full erection UMLS:C0242350|MSH:D007172|SNOMEDCT_US:397803000 human_phenotype owl:Class HP:0100247 biolink:NamedThing Recurrent singultus A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. hp0009lx5z Hiccups|Hiccup|Recurrent hiccup|Recurrent hiccough|Recurrent synchronous diaphragmatic flutter A bout of hiccups, in general, resolves itself without intervention, although many home remedies claim to shorten the duration, and medical treatment is occasionally necessary in cases of chronic hiccups. Hiccups are caused by many central and peripheral nervous system disorders, all from injury or irritation to the phrenic and vagus nerves, as well as toxic or metabolic disorders affecting the aforementioned systems. Hiccups often occur after consuming carbonated beverages, alcohol, dry breads, or spicy foods. Prolonged laughter or eating too fast are also known to cause hiccups. Persistent or intractable hiccups may be caused by any condition which irritates or damages the relevant nerves. doelkens 2010-07-08T05:28:00Z SNOMEDCT_US:65958008|UMLS:C0019521|UMLS:C0744897|MSH:D006606 human_phenotype owl:Class HP:0010530 biolink:NamedThing Palatal myoclonus Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate. hp0009lx5z peter 2009-09-20T08:50:17Z MSH:D009207|UMLS:C0030214|SNOMEDCT_US:9366002 human_phenotype owl:Class HP:0032176 biolink:NamedThing Apical pulmonary opacity An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space. hp0009lx5z Apical cap|Apical pleural thickening 2019-01-06 11:20:30+00:00 The usual appearance is of homogeneous soft-tissue attenuation capping the extreme lung apex (uni- or bilaterally), with a sharp or irregular lower border (See Figure 6 of PMID:18195376). Thickness is variable, ranging up to about 30 mm. An apical cap occasionally mimics apical consolidation on transverse CT scans. peter owl:Class HP:0000586 biolink:NamedThing Shallow orbits Reduced depth of the orbits associated with prominent-appearing ocular globes. hp0009lx5z Decreased depth of eye sockets|Decreased depth of orbits|Shallow eye sockets|Small shallow orbits HP:0002706 UMLS:C1865244 human_phenotype owl:Class HP:3000018 biolink:NamedThing Abnormality of zygomaticus major muscle An abnormality of a zygomaticus major muscle. hp0009lx5z vasilevs 2015-02-26T03:59:07Z UMLS:C4073227 human_phenotype owl:Class HP:0030990 biolink:NamedThing Pleomorphic cholangitis Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree. hp0009lx5z 2017-05-13 13:41:39+00:00 peter owl:Class HP:0008523 biolink:NamedThing Posterior helix pit Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. hp0009lx5z Pits in posterior aspect of ear helices|Helix, posterior pit|Ear, posterior helical groove|Indentation in back of outer ear|Ear, posterior helical notch They are usually linear to a narrow oval in shape and may be single or multiple. UMLS:C4021539 human_phenotype owl:Class HP:0001212 biolink:NamedThing Prominent fingertip pads A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. hp0009lx5z Persistence of fingerpads|Persistent fetal fingertip pads|Prominent fingertip pads|Prominent finger pads|Persistent foetal fingertip pads HP:0001235 UMLS:C1835807 human_phenotype owl:Class HP:0008265 biolink:NamedThing Mitochondrial lysine transport defect hp0009lx5z UMLS:C4024715 human_phenotype owl:Class HP:0008722 biolink:NamedThing Urethral diverticulum The presence of a diverticulum (sac or pouch) in the wall of the urethra. hp0009lx5z SNOMEDCT_US:90531003|UMLS:C0152443 human_phenotype owl:Class HP:0001125 biolink:NamedThing Transient unilateral blurring of vision Transient blurring of vision associated with the aura phase of migraine. hp0009lx5z Hemianoptic blurring of vision|Transient unilateral blurred vision|Hemianopic blurring The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. HP:0000583 UMLS:C1865332 human_phenotype owl:Class HP:0000622 biolink:NamedThing Blurred vision Lack of sharpness of vision resulting in the inability to see fine detail. hp0009lx5z Blurred vision This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. HP:0007723 SNOMEDCT_US:111516008|UMLS:C0344232|SNOMEDCT_US:246636008 human_phenotype owl:Class HP:0006699 biolink:NamedThing Premature atrial contractions A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. hp0009lx5z Premature supraventricular beats|Atrial premature complex|PACs|Atrial ectopic beats|Ectopic supraventricular rhythms SNOMEDCT_US:406461004|SNOMEDCT_US:287057009|SNOMEDCT_US:284470004|MSH:D018880|SNOMEDCT_US:63593006|UMLS:C0033036 human_phenotype owl:Class HP:0004920 biolink:NamedThing Phenylpyruvic acidemia hp0009lx5z UMLS:C1849926 human_phenotype owl:Class HP:0007566 biolink:NamedThing Index finger dermatoglyphic radial loop hp0009lx5z UMLS:C4024845 human_phenotype owl:Class HP:0031187 biolink:NamedThing Abnormal circulating pregnenolone concentration An abnormality of the concentration of pregnenolone in the blood. hp0009lx5z Abnormality of circulating pregnenolone level 2017-06-21 10:45:33+00:00 Neurosteroids are steroids synthesized within the central nervous system as well as in other steroidogenic organs/tissues. In contrary with the classical actions through intracellular receptors, extensive evidence has established that neurosteroids can exert rapid, potent actions at the cell membrane via allosteric interactions with the GABAA receptor. Pregnenolone is a naturally occurring neurosteroid directly metabolized from cholesterol and the precursor of virtually all neurosteroids. peter owl:Class HP:0007208 biolink:NamedThing Irregular myelin loops Presence of irregular redundant loops of focally folded myelin in a peripheral nerve. hp0009lx5z UMLS:C4024922 human_phenotype owl:Class HP:0005322 biolink:NamedThing Prominent nasal septum hp0009lx5z Low hanging nasal septum|Prominent nasal septum|Visible nasal septum|Prominent septum of nose|Visible septum of nose|Low hanging septum of nose UMLS:C4025216|UMLS:C4280490|UMLS:C4280489 human_phenotype owl:Class HP:0033792 biolink:NamedThing Cross bite Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth. hp0009lx5z 2021-05-07 11:30:03+00:00 Cross bite may occur unilaterally, bilaterally, or frontally. A total cross bite with buccal displacement of the maxillary posterior teeth, with or without contact between the lingual surface of the maxillary lingual cusp and the buccal surface of the buccal cusp of its mandibular antagonist, has been called scissor bite. If only a single tooth is affected, the term single cross bite can be used. peter owl:Class HP:0046507 biolink:NamedThing Bradypnea Bradypnea is referring to breathing that is abnormally slow. hp0009lx5z SNOMED_CT:86684002 owl:Class HP:0007434 biolink:NamedThing Plaque-like facial hemangioma Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology. hp0009lx5z Hemangioma, facial, plaque-like UMLS:C1847884 human_phenotype owl:Class HP:0010759 biolink:NamedThing Prominence of the premaxilla Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. hp0009lx5z Prominence of the primary palate bone|Anterior position of the primary palate bone|Premaxillary bone excess|Anterior position of the premaxilla|Prominence of the intermaxillary bone As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated. sdoelken 2010-04-23T11:01:23Z UMLS:C2749369 human_phenotype owl:Class HP:0032209 biolink:NamedThing Abnormal circulating free T3 level A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. hp0009lx5z Abnormal circulating free T3 concentration|Abnormal circulating free triiodotyronine concentration 2019-01-20 20:34:42+00:00 peter owl:Class HP:0030260 biolink:NamedThing Microphallus Length of penis more than 2 SD below the mean for age accompanied by hypospadias. hp0009lx5z Traditionally a distinction is made between a Short penis, a short penis with otherwise normal anatomy, versus microphallus, a short penis with hypospadias. Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. A short penis should be differentiated from an inconspicuous penis, for instance due to excessive suprapubic fat ("buried"). We also recognize that shortness of a penis is defined by some subspecialists as penile length more than 2.5 SD below the mean. UMLS:C0240701|SNOMEDCT_US:276333003 owl:Class HP:0011044 biolink:NamedThing Abnormal number of permanent teeth The presence of an altered number of of permanent teeth. hp0009lx5z Abnormal permanent tooth count|Abnormal number of adult teeth|Abnormal number of permanent teeth|Abnormal number of secondary dentition|Abnormal complement of permanent teeth peter 2011-03-10T10:43:37Z UMLS:C4023573 human_phenotype owl:Class HP:0008345 biolink:NamedThing Hypoplasia of the iris dilator muscle Underdevelopment of the dilatator pupillae. hp0009lx5z Underdeveloped iris dilator muscle|Hypoplasia of the pupil dilator muscle|Underdeveloped pupil dilator muscle UMLS:C4024696 human_phenotype owl:Class HP:0007809 biolink:NamedThing Punctate corneal dystrophy hp0009lx5z UMLS:C4024796 human_phenotype owl:Class HP:0001971 biolink:NamedThing Hypersplenism A malfunctioning of the spleen in which it prematurely destroys red blood cells. hp0009lx5z The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly). SNOMEDCT_US:58381000|MSH:D006971|UMLS:C0020532 human_phenotype owl:Class HP:0008812 biolink:NamedThing Flattened femoral head An abnormally flattened femoral head. hp0009lx5z Flat head of thigh bone|Flattened femoral heads UMLS:C1860601 human_phenotype owl:Class HP:0012006 biolink:NamedThing Jamais vu aura A subjective feeling that an experience which has occurred before is being experienced for the first time. hp0009lx5z Jamais vu hecht 2012-07-20T11:55:38Z UMLS:C0233803|SNOMEDCT_US:28249008 owl:Class HP:0011774 biolink:NamedThing Thyroid follicular adenoma hp0009lx5z peter 2012-04-22T06:01:31Z SNOMEDCT_US:255033000|SNOMEDCT_US:255034006|MSH:D013964|UMLS:C0151468 human_phenotype owl:Class HP:0200017 biolink:NamedThing Cerebral white matter agenesis Congenital defect with failure of the development of the cerebral white matter. hp0009lx5z White matter agenesis|Agenesis of the cerebral white matter sebastiankohler 2010-06-16T12:37:37Z UMLS:C1859969 human_phenotype owl:Class HP:0025171 biolink:NamedThing Rosette-forming glioneuronal tumor A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy. hp0009lx5z Rosette-forming glioneuronal tumor of the fourth ventricle|Rosette-forming glioneuronal neoplasm|Rosette-forming glioneuronal tumour|Rosette-forming glioneuronal tumour of the fourth ventricle 2016-12-04 14:35:51+00:00 HPO:probinson owl:Class HP:0004058 biolink:NamedThing Hand monodactyly hp0009lx5z UMLS:C4025415 human_phenotype owl:Class HP:0006253 biolink:NamedThing Swelling of proximal interphalangeal joints hp0009lx5z Swelling of innermost hinge joints UMLS:C1860841 human_phenotype owl:Class HP:0011726 biolink:NamedThing Persistent fetal circulation Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course. hp0009lx5z Persistent foetal circulation peter 2012-04-11T09:02:26Z SNOMEDCT_US:35604006|SNOMEDCT_US:233815004|MSH:D010547|SNOMEDCT_US:206597007|UMLS:C0031190 human_phenotype owl:Class HP:0030257 biolink:NamedThing Freckled genitalia One or more brown punctate macules on the skin of the genitalia. hp0009lx5z Genitalia, ephelides|Freckled genitalia This should be differentiated from Hyperpigmented genitalia in which an area larger than a freckle or the complete external genitalia are hyperpigmented. The description should be qualified by a description of the affected part(s). UMLS:C4021040 owl:Class HP:0012562 biolink:NamedThing Premature epimetaphyseal fusion in hand Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. hp0009lx5z peter 2014-01-04T02:02:35Z UMLS:C4022844 human_phenotype owl:Class HP:0004495 biolink:NamedThing Thin anteverted nares hp0009lx5z This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations. UMLS:C1834056 human_phenotype owl:Class HP:0033453 biolink:NamedThing Limited neck extension Reduced abilty to move the head back towards the ceiling so that one is looking upwards. hp0009lx5z 2021-01-09 21:40:47+00:00 peter owl:Class HP:0012873 biolink:NamedThing Absent vas deferens Aplasia (congenital absence) of the vas deferens. hp0009lx5z Congenital absence of the vas deferens|Absent deferent duct|Absent ductus deferens hecht 2014-06-09T11:14:47Z SNOMEDCT_US:300506000|SNOMEDCT_US:702610009|UMLS:C0266444|SNOMEDCT_US:5286009 human_phenotype owl:Class HP:0030252 biolink:NamedThing Absent circulating B cells Complete lack of mature B cells, that is, of B cells that have left the bone marrow. hp0009lx5z Absence of mature B cells UMLS:C4022558 owl:Class HP:0025095 biolink:NamedThing Sneeze A sudden violent, spasmodic, audible expiration of breath through the nose and mouth. hp0009lx5z 2016-10-24 01:36:17+00:00 HPO:probinson owl:Class HP:0032377 biolink:NamedThing Increased urinary orosomucoid An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism. hp0009lx5z Increased urinary alpha-1-acid glycoprotein 2019-02-24 14:04:48+00:00 peter owl:Class HP:0011567 biolink:NamedThing Sinus venosus atrial septal defect An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting. hp0009lx5z peter 2012-04-08T08:15:24Z ICD-10:Q21.1|MSH:C548009|SNOMEDCT_US:95268002|UMLS:C0344730|Fyler:2010 human_phenotype owl:Class HP:0011969 biolink:NamedThing Elevated circulating luteinizing hormone level An elevated concentration of luteinizing hormone in the blood. hp0009lx5z Elevated LH level|Elevated luteinizing hormone|Increased circulating luteinizing hormone level peter 2012-07-18T08:36:09Z HP:0030343 UMLS:C4023101 human_phenotype owl:Class HP:0006163 biolink:NamedThing Enlarged metacarpophalangeal joints hp0009lx5z UMLS:C1859700 human_phenotype owl:Class HP:0032853 biolink:NamedThing Focal impaired awareness sensory seizure with hot-cold sensations A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure. hp0009lx5z peter owl:Class HP:0031104 biolink:NamedThing Insulin receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor. hp0009lx5z 2017-05-30 02:42:21+00:00 peter owl:Class HP:0004591 biolink:NamedThing Disc-like vertebral bodies hp0009lx5z UMLS:C1835444 human_phenotype owl:Class HP:0020204 biolink:NamedThing Tubulointerstitial bacterial infiltration Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. hp0009lx5z Renal tubulointerstitial bacterial organisms Tubulointerstitial bacteria can be ascending or vascuolcentric/blood-born. This finding can be associated with neutrophil rich infiltrates. robinp 2019-12-23 16:29:36+00:00 owl:Class HP:0002025 biolink:NamedThing Anal stenosis Abnormal narrowing of the anal opening. hp0009lx5z Narrowing of anal opening MEDDRA:10002176|SNOMEDCT_US:250037002|UMLS:C0262374|SNOMEDCT_US:69914001 human_phenotype owl:Class HP:0005280 biolink:NamedThing Depressed nasal bridge Posterior positioning of the nasal root in relation to the overall facial profile for age. hp0009lx5z Depressed nasal root|Concave bridge of nose|Concave nasal bridge|Flat nasal root|Retruded bridge of nose|Low nasal bridge|Low nasal root|Depressed nasal bridge|Retruded nasal bridge|Flat bridge of nose|Flat, nasal bridge|Flat nasal bridge|Depressed bridge of nose|Flattened nasal bridge|Depressed nasal root/bridge The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. HP:0004506|HP:0000428|HP:0004413|HP:0005119|HP:0000425|HP:0000439|HP:0000459|HP:0004666|HP:0004505|HP:0005284 UMLS:C3550546|UMLS:C4280495|UMLS:C1836542 human_phenotype owl:Class HP:0001348 biolink:NamedThing Brisk reflexes Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. hp0009lx5z Brisk deep tendon reflexes UMLS:C2673700 human_phenotype owl:Class HP:0003908 biolink:NamedThing Corner fracture of metaphysis Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. hp0009lx5z Metaphyseal corner fracture|Bucket handle fracture A corner fracture is a subepiphyseal planer fracture through immature metaphyseal bone. The appearance of a corner, avulsion or bucket handle depends on the extent of bone failure and radiographic projection. Bone can fail in this pattern from both shearing and tensile stresses. The weakest area of bone for a given loading condition determines the injury threshold for that structure. UMLS:C4025516 owl:Class HP:0032072 biolink:NamedThing Popliteal synovial cyst A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle. hp0009lx5z Baker's cyst 2018-10-13 11:41:38+00:00 Popliteal synovial cysts, also known as Baker's cysts, are commonly found in association with intraarticular knee disorders, such as osteoarthritis and meniscus tears. Histologically, the cyst walls resemble synovial tissue with fibrosis, and chronic nonspecific inflammation may be present. Osteocartilaginous loose bodies may also be found within the cyst, even if they are not seen in the knee joint. Baker cysts can be a source of posterior knee pain that persists despite surgical treatment of the intraarticular lesion, and they are routinely discovered on magnetic resonance imaging scans of the symptomatic knee. Symptoms related to a popliteal cyst origin are infrequent and may be related to size. peter owl:Class HP:0011987 biolink:NamedThing Ectopic ossification in muscle tissue Formation of abnormal bony tissue within muscle tissue. hp0009lx5z Calcification of muscle tissue peter 2012-07-19T10:46:03Z UMLS:C4023096 human_phenotype owl:Class HP:0020183 biolink:NamedThing Increased circulating A-type natriuretic peptide level A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. hp0009lx5z robinp 2019-07-24 16:40:06+00:00 owl:Class HP:0025246 biolink:NamedThing Trichilemmal cyst Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous. hp0009lx5z Pilar cyst 2016-12-17 13:45:04+00:00 Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. HPO:probinson owl:Class HP:0033320 biolink:NamedThing Mesangial cell loss Loss of mesangial cells segmentally or globally. hp0009lx5z 2020-11-29 13:43:05+00:00 Mesangial cell loss can be observed in the setting of mesangiolysis. peter owl:Class HP:0033441 biolink:NamedThing Elevated circulating hexanoylcarnitine concentration Increased concentration of hexanoylcarnitine in the blood circulation. hp0009lx5z Elevated circulating O-hexanoylcarnitine concentration|Elevated plasma hexanoylcarnitine, C6:0 2021-01-09 18:44:30+00:00 peter owl:Class HP:0031693 biolink:NamedThing Severe Epstein Barr virus infection An unusually severe Epstein Barr virus (EBV) infection. hp0009lx5z Fulminant infectious mononucleosis|Severe EBV infection 2017-12-17 22:35:16+00:00 peter owl:Class HP:0032560 biolink:NamedThing Coiled sperm flagella Sperm cells whose flagella are twisted (coiled). hp0009lx5z 2019-06-15 00:22:19+00:00 peter owl:Class HP:0040184 biolink:NamedThing Oral bleeding hp0009lx5z Oral haemorrhage|Oral hemorrhage|Oral bleeding MSH:D006472|SNOMEDCT_US:22490002|UMLS:C0029163 owl:Class HP:0011672 biolink:NamedThing Cardiac myxoma A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber. hp0009lx5z peter 2012-04-09T12:10:35Z NCIT:C6577|UMLS:C1960546|SNOMEDCT_US:426191007 owl:Class HP:0000643 biolink:NamedThing Blepharospasm A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. hp0009lx5z Involuntary closure of eyelid|Eyelid twitching|Eyelid spasm|Spontaneous closure of eyelid HP:0007907 MSH:D001764|SNOMEDCT_US:59026006|UMLS:C0005747 human_phenotype owl:Class HP:0030484 biolink:NamedThing Supernormal dark-adapted bright flash electroretinogram b-wave hp0009lx5z UMLS:C4072974 owl:Class HP:0001404 biolink:NamedThing Hepatocellular necrosis hp0009lx5z Hepatocellular loss|Death of liver cells UMLS:C1855038 human_phenotype owl:Class HP:0410253 biolink:NamedThing Myeloid maturation arrest Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. hp0009lx5z Myeloid maturation arrest in bone marrow 2018-10-19 18:41:56+00:00 owl:Class HP:0033606 biolink:NamedThing Bone marrow maturation arrest Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. hp0009lx5z Haematopoietic maturation arrest|Hematopoietic maturation arrest 2021-01-30 21:26:37+00:00 peter owl:Class HP:0033930 biolink:NamedThing Arcuate artery endoarterial lymphocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. hp0009lx5z Endoarterial hypercellularity within arcuate artery consisting of lymphocytes 2021-06-24 01:16:06+00:00 peter owl:Class HP:0100212 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 5th toe hp0009lx5z Triangular end part of the outermost bone of the little toe|Triangular end part of the outermost bone of the pinkie toe|Triangular end part of the outermost bone of the pinky toe doelkens 2010-06-24T05:03:31Z UMLS:C4022209 human_phenotype owl:Class HP:0005103 biolink:NamedThing Calcification of the auricular cartilage Ossification affecting the external ear cartilage. hp0009lx5z Ear cartilage calcification|Cartilaginous ossification of pinnae|Ossification of pinnae|Petrified ear peter 2008-03-25T05:09:00Z HP:0008549 UMLS:C1408806 human_phenotype owl:Class HP:0004384 biolink:NamedThing Type I truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries. hp0009lx5z Persistent truncus arteriosus type I|Type 1 truncus arteriosus According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. peter 2008-03-18T08:57:00Z Fyler:0510|Fyler:510|UMLS:C1834934 human_phenotype owl:Class HP:0003502 biolink:NamedThing Mild short stature A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. hp0009lx5z short stature, mild|Relative short stature HP:0008908|HP:0003503|HP:0008879 UMLS:C3150077|UMLS:C4020838 human_phenotype owl:Class HP:0010808 biolink:NamedThing Protruding tongue Tongue extending beyond the alveolar ridges or teeth at rest. hp0009lx5z Tongue sticking out of mouth|Prominent tongue|Lingual prolapse|Lingual prominence|Protruding tongue|Lingual protrusion|Tongue protrusion|Prolapse of tongue Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately. peter 2010-07-02T09:38:37Z UMLS:C0241442|SNOMEDCT_US:285503005|SNOMEDCT_US:249872000 human_phenotype owl:Class HP:0003863 biolink:NamedThing Angulated humerus hp0009lx5z Angulated long bone in upper arm UMLS:C4025546 human_phenotype owl:Class HP:0003353 biolink:NamedThing Propionyl-CoA carboxylase deficiency An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase. hp0009lx5z Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids. SNOMEDCT_US:69080001|UMLS:C0268579|MSH:D056693|SNOMEDCT_US:124718009 human_phenotype owl:Class HP:0025319 biolink:NamedThing Rubeosis iridis Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. hp0009lx5z 2017-01-25 14:46:08+00:00 HPO:probinson owl:Class HP:0005177 biolink:NamedThing Premature arteriosclerosis Arteriosclerosis occurring at an age that is younger than usual. hp0009lx5z Premature hardening of arteries UMLS:C4280503|UMLS:C1848486 human_phenotype owl:Class HP:0033123 biolink:NamedThing Elevated circulating osteopontin level Abnormally increased level of osteopontin in the blood circulation hp0009lx5z 2020-09-05 12:56:32+00:00 Osteopontin (OPN, also known as Eta-1) is a noncollagenous matrix protein produced by macrophages and T lymphocytes. Plasma OPN levels can be elevated in a range of diseases including tuberculosis and systemic lupus erythematosus. peter owl:Class HP:0003462 biolink:NamedThing Elevated 8-dehydrocholesterol hp0009lx5z UMLS:C1840013 human_phenotype owl:Class HP:0031974 biolink:NamedThing Increased vertical cup-to-disc ratio - 0.6 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). hp0009lx5z 2018-07-08 00:13:08+00:00 peter owl:Class HP:0011901 biolink:NamedThing Dysfibrinogenemia Qualitatively abnormal fibrinogen. hp0009lx5z Dysfibrinogenaemia peter 2012-06-03T03:40:21Z UMLS:C1260903|SNOMEDCT_US:111589005 human_phenotype owl:Class HP:0008189 biolink:NamedThing Insulin insensitivity Decreased sensitivity toward insulin. hp0009lx5z UMLS:C1864570 human_phenotype owl:Class HP:0011855 biolink:NamedThing Pharyngeal edema Abnormal accumulation of fluid leading to swelling of the pharynx. hp0009lx5z Swollen throat|Pharyngeal oedema|Throat swelling hecht 2012-05-21T11:02:52Z SNOMEDCT_US:2129002|UMLS:C0236024 human_phenotype owl:Class HP:0032266 biolink:NamedThing CSF anti-NMDA receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. hp0009lx5z Presence of anti-NMDAR antibody in cerebrospinal fluid|Presence of NMDAR antibody in CSF|Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF 2019-01-27 20:14:16+00:00 peter owl:Class HP:0032265 biolink:NamedThing CSF autoimmune antibody positivity The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues. hp0009lx5z Cerebrospinal fluid autoimmune antibody positivity 2019-01-27 20:13:27+00:00 peter owl:Class HP:0033518 biolink:NamedThing Methylphenidate addiction Addiction to methylphenidate. hp0009lx5z Methylphenidate dependence 2021-01-13 12:33:58+00:00 Methylphenidate is used to treat attention deficit hyperactivity disorder. peter owl:Class HP:0012044 biolink:NamedThing Seesaw nystagmus Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. hp0009lx5z Seesaw nystagmus can be a manifestation of lesions of the optic chiasma. peter 2012-08-01T12:06:36Z SNOMEDCT_US:95782001|UMLS:C0344243|MSH:D009759 human_phenotype owl:Class HP:0010739 biolink:NamedThing Osteopoikilosis Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake. hp0009lx5z doelkens 2010-04-21T07:19:11Z SNOMEDCT_US:9147009|MSH:D010023|UMLS:C0029455 human_phenotype owl:Class HP:0001049 biolink:NamedThing Absent dorsal skin creases over affected joints hp0009lx5z UMLS:C1861400 human_phenotype owl:Class HP:0032698 biolink:NamedThing Focal cognitive seizure with conduction dysphasia/aphasia A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation. hp0009lx5z Conduction dysphasia / aphasia is the inability to repeat speech that is heard, due to failure to encode phonological information, in the setting of intact auditory comprehension (full understanding of what is heard), and fluent speech production (subject to paraphrasic errors). peter owl:Class HP:0410226 biolink:NamedThing Increased anti-feather IgE antibody level Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers. hp0009lx5z 2018-10-03 18:40:30+00:00 owl:Class HP:0007793 biolink:NamedThing Granular macular appearance Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea. hp0009lx5z Macular retinal pigment epithelial mottling UMLS:C4024799 human_phenotype owl:Class HP:0033158 biolink:NamedThing Reduced respiratory ciliary beating frequency An abnormal reduction in the number of beats per unit time of the respiratory cilia. hp0009lx5z Dminished respiratory ciliary beat frequency 2020-09-20 13:24:25+00:00 Respiratory cilia beat in a coordinated manner with a specific frequency and pattern, clearing mucus and debris from the airways. In primary ciliary dyskinesia cilia are either stationary or beat in a slow or dyskinetic fashion. Impaired mucociliary clearance in these patients is associated with recurrent chest infections, which may lead to bronchiectasis and sinusitis. The diagnosis of primary ciliary dyskinesia is made on the basis of a supportive clinical history and an abnormal ciliary beat frequency accompanied in most cases by specific abnormalities of the ciliary axoneme on electron microscopy. peter owl:Class HP:0025287 biolink:NamedThing Axial Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs. hp0009lx5z 2016-12-18 15:34:25+00:00 HPO:probinson owl:Class HP:0032105 biolink:NamedThing Macrosaccadic oscillations A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern. hp0009lx5z Macrosaccadic oscillation 2018-11-04 23:04:28+00:00 Macrosaccadic oscillation is usually observed in acute damage to the dorsal cerebellum involving the deep cerebellar nuclei, as in demyelination, tumour or haematoma. peter HP:0032117 owl:Class HP:0003621 biolink:NamedThing Juvenile onset Onset of signs or symptoms of disease between the age of 5 and 15 years. hp0009lx5z Signs and symptoms begin before 15 years of age HP:0003589|HP:0003578|HP:0003620|HP:0003659|HP:0003583|HP:0003582|HP:0003580|HP:0003625|HP:0003670|HP:0003604|HP:0003661|HP:0003592|HP:0003619 UMLS:C4025588 human_phenotype owl:Class HP:0031387 biolink:NamedThing Increased multinucleated megakaryocyte count The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow. hp0009lx5z 2017-09-02 16:37:55+00:00 A multinucleated megakaryocyte is a cell of normal size with two or more nuclei. Binucleated micromegakaryocytes should be categorized as such rather than as multinucleated megakaryocytes since the restricted size is of more diagnostic significance than the presence of two nuclei. Multinucleated megakaryocytes are seen in small numbers in normal bone marrow aspirates but in larger numbers in some patients with MDS. peter owl:Class HP:0011411 biolink:NamedThing Forceps delivery hp0009lx5z Forceps delivery peter 2012-03-15T09:58:47Z UMLS:C0341808 human_phenotype owl:Class HP:0005910 biolink:NamedThing Rhomboid or triangular shaped 5th finger middle phalanx Rhomboid or triangular shaped 5th (little) finger middle phalanx. hp0009lx5z Rhomboid or triangular shaped fifth finger middle phalanx UMLS:C4021616 human_phenotype owl:Class HP:0006685 biolink:NamedThing Endocardial fibrosis The presence of excessive connective tissue in the endocardium. hp0009lx5z Endomyocardial fibrosis HP:0005169 SNOMEDCT_US:398716006|UMLS:C0553980|MSH:D004719 human_phenotype owl:Class HP:0032513 biolink:NamedThing Four-vessel umbilical cord Four-vessel umbilical cord containing two arteries and two veins. hp0009lx5z 2019-05-23 23:25:42+00:00 A normal umbilical cord contains two umbilical arteries and one umbilical vein. peter owl:Class HP:0001444 biolink:NamedThing Autosomal dominant somatic cell mutation Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body. hp0009lx5z UMLS:C4025781 human_phenotype owl:Class HP:0005593 biolink:NamedThing Macular hypopigmented whorls, streaks, and patches hp0009lx5z UMLS:C3806616 human_phenotype owl:Class HP:0006976 biolink:NamedThing Necrotizing encephalopathy A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue. hp0009lx5z The disease acute necrotizing encephalopathy is characterized by acute onset encephalopathy with rapid, progressive neurologic deterioration, seizures and symmetric multifocal brain lesions. This term is kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. UMLS:C1396481 human_phenotype owl:Class HP:0005692 biolink:NamedThing Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles. hp0009lx5z Joints move beyond expected range of motion UMLS:C3553764 human_phenotype owl:Class HP:0003232 biolink:NamedThing Mitochondrial malic enzyme reduced hp0009lx5z Decreased mitochondrial malic enzyme UMLS:C1856697 human_phenotype owl:Class HP:0031676 biolink:NamedThing Monomorphic ventricular tachycardia A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so). hp0009lx5z 2017-12-17 17:06:28+00:00 Monomorphic VT originates from a single ventricular focus. peter owl:Class HP:0040114 biolink:NamedThing Absence of the reflex of the tensor tympani muscle hp0009lx5z HPO:skoehler UMLS:C4022430 owl:Class HP:0030203 biolink:NamedThing Unfavorable response of muscle weakness to acetylcholine esterase inhibitors Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. hp0009lx5z Unfavourable response of muscle weakness to acetylcholine esterase inhibitors An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis. UMLS:C4022580 owl:Class HP:0030900 biolink:NamedThing Pruritus on foot Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot. hp0009lx5z Itchy feet|Itchy foot owl:Class HP:0011896 biolink:NamedThing Subconjunctival hemorrhage Bleeding beneath the mucous membrane that lines the inner surface of the eyelid. hp0009lx5z Subconjunctival haemorrhage peter 2012-06-03T03:11:41Z SNOMEDCT_US:78768009|UMLS:C0038534 human_phenotype owl:Class HP:0033605 biolink:NamedThing Pustular rash A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils. hp0009lx5z Pustulosis 2021-01-30 16:59:06+00:00 peter owl:Class HP:0032615 biolink:NamedThing Abnormal diffusion weighted cerebral MRI morphology A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images. hp0009lx5z Diffusion weighted imaging (DWI) abnormality|MRI diffusion abnormality of the cerebrum|Diffusion weighted magnetic resonance imaging (DWI) abnormality peter owl:Class HP:0007647 biolink:NamedThing Congenital extraocular muscle anomaly Congenital abnormality of the extraocular muscles. hp0009lx5z UMLS:C4024823 human_phenotype owl:Class HP:0031041 biolink:NamedThing Obstruction of the superior vena cava Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction. hp0009lx5z Superior vena cava obstruction|Superior vena cava syndrome 2017-05-27 12:23:27+00:00 Diagnosis of superior vena cava obstruction may be made by computed tomography with contrast and other means. peter owl:Class HP:0025432 biolink:NamedThing Acanthoma A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm. hp0009lx5z 2017-04-23 15:58:05+00:00 HPO:probinson owl:Class HP:0002398 biolink:NamedThing Degeneration of anterior horn cells hp0009lx5z Degeneration of spinal cord anterior horn cells|Anterior horn cell loss|Loss of spinal cord anterior horn cells|Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord|Spinal cord anterior horn cell degeneration|Progressive loss of anterior horn cells HP:0007136|HP:0008312 UMLS:C1843505 human_phenotype owl:Class HP:0032707 biolink:NamedThing Focal aware cognitive seizure with dyslexia/alexia A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0033914 biolink:NamedThing Arcuate artery intima/media amyloidosis Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. hp0009lx5z Amyloidosis within arcuate arterial intima/media 2021-06-23 23:14:47+00:00 peter owl:Class HP:0011120 biolink:NamedThing Concave nasal ridge Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. hp0009lx5z Saddle nose|Concave dorsum of nose|Concave nasal dorsum|Ski jump nose|Boxer's nasal deformity|Saddle nose deformity|Saddle shaped nasal dorsum|Boxer's nose deformity A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum. peter 2011-06-12T09:39:55Z SNOMEDCT_US:710234009|UMLS:C0264169 human_phenotype owl:Class HP:0032551 biolink:NamedThing Hemorrhoids Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain. hp0009lx5z Piles|Haemorrhoids 2019-06-14 10:37:17+00:00 Hemorrrhoids result from dilation of the submucosal vascular tissue in the distal anal canal. This vascular tissue is supported by connective tissue that, when weakened, leads to descent or prolapse of the hemorrhoids. Internal hemorrhoids originate above the dentate line (i.e., the junction between columnar and squamous epithelium) and are viscerally innervated and, therefore, painless. External hemorrhoids originate below the dentate line, have somatic innervation, and can cause pain. Some patients have both internal and external (mixed) hemorrhoids. peter owl:Class HP:0011935 biolink:NamedThing Decreased urinary urate Decreased concentration of urate in the urine. hp0009lx5z Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. peter 2012-06-10T02:19:49Z UMLS:C4023118 human_phenotype owl:Class HP:0100621 biolink:NamedThing Dysgerminoma The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. hp0009lx5z doelkens 2010-12-28T11:47:47Z MSH:D004407|UMLS:C0013377|SNOMEDCT_US:60718004|NCIT:C2996 human_phenotype owl:Class HP:0009132 biolink:NamedThing Abnormal tarsal bone mineral density This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. hp0009lx5z Abnormality of bone mineral density involving tarsal bones peter 2008-04-17T02:39:00Z UMLS:C4021522 human_phenotype owl:Class HP:0012353 biolink:NamedThing Decreased fucosylation of N-linked protein glycosylation Decreased addition of fucose sugar units to N-linked glycans. hp0009lx5z peter 2013-09-15T10:20:00Z UMLS:C4022938 human_phenotype owl:Class HP:0040318 biolink:NamedThing Red urine An abnormal red color of the urine. hp0009lx5z http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean ORCID:0000-0002-5316-1399 owl:Class HP:0500095 biolink:NamedThing Food-induced anaphylaxis Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food. hp0009lx5z 2018-04-27 19:55:30+00:00 owl:Class HP:0007325 biolink:NamedThing Generalized dystonia A type of dystonia that affects all or most of the body. hp0009lx5z Generalised dystonia SNOMEDCT_US:425492002|UMLS:C1848954 human_phenotype owl:Class HP:0031987 biolink:NamedThing Diminished ability to concentrate Being unable to focus one's attention or mental effort on a particular object or activity. hp0009lx5z Lack of concentration|Poor concentration|Concentration problems 2018-07-09 01:48:46+00:00 peter owl:Class HP:0032911 biolink:NamedThing Focal aware orofacial automatism seizure A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout. hp0009lx5z peter owl:Class HP:0020157 biolink:NamedThing Thin zona pellucida Reduced thickness of the zona pellucida. hp0009lx5z robinp 2019-07-06 18:52:13+00:00 owl:Class HP:0002058 biolink:NamedThing Myopathic facies A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. hp0009lx5z Myopathic facial appearance|Myopathic face HP:0004647 UMLS:C0332615|SNOMEDCT_US:26432009 human_phenotype owl:Class HP:0032020 biolink:NamedThing Eosinophilic bladder infiltration Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis. hp0009lx5z Eosinophilic cystitis 2018-08-25 15:48:26+00:00 peter owl:Class HP:0004580 biolink:NamedThing Anterior scalloping of vertebral bodies An excessive concavity of the anterior surface of one or more vertebral bodies. hp0009lx5z Anterior scalloping vertebral bodies One cause of anterior scalloping is an aortic aneurysm, which because of its pulsatile pressure can cause a convex defect along the anterior surface of an adjacent vertebra body. The defect may have a sclerotic margin. UMLS:C2673652 human_phenotype owl:Class HP:0003715 biolink:NamedThing Myofibrillar myopathy Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. hp0009lx5z Myofibrillar changes This feature is demonstrated by muscle biopsy. UMLS:C2678065|MSH:C580316|SNOMEDCT_US:699269005 human_phenotype owl:Class HP:0002145 biolink:NamedThing Frontotemporal dementia A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. hp0009lx5z MSH:D057180|UMLS:C0338451|SNOMEDCT_US:230270009 owl:Class HP:0000726 biolink:NamedThing Dementia A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. hp0009lx5z Progressive dementia|Dementia, progressive|Dementia HP:0007122|HP:0007283|HP:0007150|HP:0002274 UMLS:C0497327|SNOMEDCT_US:52448006|MSH:D003704 human_phenotype owl:Class HP:0006782 biolink:NamedThing Malignant eosinophil proliferation hp0009lx5z UMLS:C1851585|MSH:C565054 human_phenotype owl:Class HP:0032947 biolink:NamedThing Renal medullary interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. hp0009lx5z peter owl:Class HP:0033946 biolink:NamedThing Arcuate vein intima/media crystal accumulation Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. hp0009lx5z 2021-06-24 01:57:38+00:00 peter owl:Class HP:0012203 biolink:NamedThing Onychomycosis A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. hp0009lx5z peter 2013-03-12T12:08:30Z SNOMEDCT_US:414941008|UMLS:C0040261|MSH:D014009 human_phenotype owl:Class HP:0010132 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the hallux hp0009lx5z Irregular end part of the innermost bone of the big toe doelkens 2009-05-29T01:22:23Z UMLS:C4024027 human_phenotype owl:Class HP:0005543 biolink:NamedThing Reduced protein C activity An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. hp0009lx5z Protein C deficiency Protein C can function as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa. Therefore, a defect in protein C is associated with an increased risk of thrombosis. SNOMEDCT_US:76407009|UMLS:C0398625|MSH:D020151 human_phenotype owl:Class HP:0002000 biolink:NamedThing Short columella Reduced distance from the anterior border of the naris to the subnasale. hp0009lx5z Hypoplasia of columella|Columella, short|Decreased length of columella This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. UMLS:C1857479|UMLS:C4280585 human_phenotype owl:Class HP:0031362 biolink:NamedThing Sex-limited autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females). hp0009lx5z 2017-08-29 11:43:01+00:00 peter owl:Class HP:0000007 biolink:NamedThing Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). hp0009lx5z Autosomal recessive|Autosomal recessive form|Autosomal recessive predisposition HP:0001416|HP:0001526 UMLS:C4020899|UMLS:C0441748|SNOMEDCT_US:258211005 human_phenotype owl:Class HP:0012709 biolink:NamedThing Abnormal brain choline/creatine ratio by MRS A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z Creatine (Cr) is related to cell energy pathways, being both the substrate and product of creatine kinase. Creatine reflects the energy potential available in brain tissue. Its concentration in normal brain remains very high and stable due to high metabolic energy needs of brain cells. Its peak is noticed at 3.0 ppm. Creatine-Choline ratios are an important indicator of disease states such as demyelization. peter 2014-03-22T08:12:15Z UMLS:C4022760 human_phenotype owl:Class HP:0011424 biolink:NamedThing Increased serum zinc An increased consentration of zinc in the blood. hp0009lx5z Hyperzincemia peter 2012-03-17T08:54:44Z UMLS:C0856208|UMLS:C0854520 human_phenotype owl:Class HP:0032442 biolink:NamedThing Blood group O ABO phenotype O, corresponding to the genotype OO. hp0009lx5z 2019-03-03 16:37:48+00:00 peter owl:Class HP:0012225 biolink:NamedThing Oligodontia of primary teeth Reduced number of primary teeth. hp0009lx5z Missing some primary teeth|Decreased number of baby teeth|Failure of development of some primary teeth|Partial anodontia of primary teeth|Failure of development of some deciduous teeth|Fewer baby teeth than normal|Decreased number of deciduous teeth|Decreased number of milk teeth|Decreased number of primary teeth|Fewer primary teeth than normal|Missing some baby teeth|Fewer deciduous teeth than normal|Missing some milk teeth|Partial anodontia of deciduous teeth Primary teeth are also called temporary teeth or deciduous teeth. peter 2013-03-30T07:31:16Z UMLS:C4280316|UMLS:C4022997 human_phenotype owl:Class HP:0000677 biolink:NamedThing Oligodontia The absence of six or more teeth from the normal series by a failure to develop. hp0009lx5z Failure of development of more than six teeth|Number of teeth decreased by more than six|Missing more than six teeth|Partial anodontia The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001]. HP:0000702 UMLS:C4082304|UMLS:C4280619 owl:Class HP:0008998 biolink:NamedThing Pectoralis hypoplasia Underdevelopment of the pectoral muscle. hp0009lx5z Hypoplastic pectoral muscle|Underdeveloped pec muscle|Small pec muscle UMLS:C1846477 human_phenotype owl:Class HP:0007406 biolink:NamedThing Hyperpigmentation of eyelids hp0009lx5z Pigmentation of eyelids|Dark eyelids|Brown eyelids UMLS:C0155211|UMLS:C4280440|MSH:C562400|UMLS:C0854438|SNOMEDCT_US:41115008 human_phenotype owl:Class HP:0032210 biolink:NamedThing Decreased circulating free T3 A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. hp0009lx5z Decreased circulating free triiodothyronine 2019-01-20 20:42:18+00:00 peter owl:Class HP:0005353 biolink:NamedThing Recurrent herpes Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. hp0009lx5z Susceptibility to herpesvirus UMLS:C4025207 human_phenotype owl:Class HP:0100739 biolink:NamedThing Bulimia A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). hp0009lx5z Binge and purge doelkens 2011-06-06T05:55:43Z MSH:D002032|SNOMEDCT_US:78004001|UMLS:C0006370 human_phenotype owl:Class HP:0011619 biolink:NamedThing Pulmonary situs ambiguus with bilateral morphologic left lungs An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung. hp0009lx5z peter 2012-04-08T09:26:18Z UMLS:C4023267 human_phenotype owl:Class HP:0031618 biolink:NamedThing Anterior chamber flare grade 1+ Faint anterior chamber flare. hp0009lx5z 2017-12-16 13:29:05+00:00 peter owl:Class HP:0012889 biolink:NamedThing Cervical endometriosis Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix. hp0009lx5z hecht 2014-06-11T09:42:02Z UMLS:C0269107|SNOMEDCT_US:61640006 human_phenotype owl:Class HP:0025446 biolink:NamedThing Anomalous insertion of papillary muscle directly into anterior mitral leaflet A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet. hp0009lx5z 2017-04-30 10:50:30+00:00 This malformation consists of a direct continuity between a hypertrophied papillary muscle and the anterior mitral leaflet (Normally, the papillary muscle is connected to the leaflet via the chordae tendinae). Themalformation can be identified echocardiographically. It results in a long rigid area of mid-cavity narrowing that in turn can cause left ventricular outflow tract obstruction. HPO:probinson owl:Class HP:0004975 biolink:NamedThing Erlenmeyer flask deformity of the femurs Flaring of distal femur. hp0009lx5z Erlenmeyer flask femora|Erlenmeyer flask deformity of distal femur|Erlenmeyer flask shaped thighbone HP:0006422 UMLS:C1855895 owl:Class HP:0020087 biolink:NamedThing BCGosis Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. hp0009lx5z BCGiosis|Disseminated Bacillus Calmette-Guerin infection 2019-04-08 17:27:13+00:00 The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. robinp HP:0031698 owl:Class HP:0033427 biolink:NamedThing Pulmonary capillary angioectasia Focal accumulation of dilated pulmonary capillaries. hp0009lx5z 2021-01-09 17:45:06+00:00 peter owl:Class HP:0500255 biolink:NamedThing Increased level of hexanoylglycine in urine Elevated concentration of hexanoylglycine in the urine. hp0009lx5z Elevated urinary N-hexanoylglycine concentration 2019-03-08 21:01:41+00:00 owl:Class HP:0031833 biolink:NamedThing Hypometric upward saccades Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. hp0009lx5z 2018-05-04 02:39:32+00:00 peter owl:Class HP:0004573 biolink:NamedThing Anterior wedging of T11 An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). hp0009lx5z Wedge-shaped 11th thoracic vertebra|Anterior wedging of the 11th thoracic vertebra UMLS:C4021652 human_phenotype owl:Class HP:0100150 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 3rd toe hp0009lx5z Fragmentation of the end part of the middle bone of the 3rd toe doelkens 2010-06-24T10:24:13Z UMLS:C4022271 human_phenotype owl:Class HP:0001488 biolink:NamedThing Bilateral ptosis hp0009lx5z Drooping of both upper eyelids UMLS:C1865916 human_phenotype owl:Class HP:0012107 biolink:NamedThing Increased fibular diameter Increased width of the cross sectional diameter of the fibula. hp0009lx5z Wide calf bone|Wide fibula|Thick fibulae|Thick fibula peter 2012-09-08T04:03:50Z HP:0200082 UMLS:C4021100 human_phenotype owl:Class HP:0008344 biolink:NamedThing Elevated plasma branched chain amino acids An increased concentration of a branched chain amino acid in the blood. hp0009lx5z UMLS:C4024697 human_phenotype owl:Class HP:0100817 biolink:NamedThing Renovascular hypertension The presence of hypertension related to stenosis of the renal artery. hp0009lx5z Hypertension due to renal artery hyperplasia Renal artery stenosis can lead to hypertension and chronic kidney disease (due to chronic renal ischemia). The hypertension is caused by activation of the renin-angiotensin-aldosterone system. doelkens 2011-06-09T04:48:35Z HP:0008741 MSH:D006978|UMLS:C0020545|SNOMEDCT_US:123799005 human_phenotype owl:Class HP:0007993 biolink:NamedThing Malformed lacrimal duct Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. hp0009lx5z Malformed tear ducts UMLS:C4024757 human_phenotype owl:Class HP:0007404 biolink:NamedThing Nonepidermolytic palmoplantar hyperkeratosis Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis. hp0009lx5z Nonepidermolytic palmoplantar keratoderma UMLS:C1833030|MSH:C563422 owl:Class HP:0033808 biolink:NamedThing Spermatocele A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily. hp0009lx5z 2021-05-08 15:33:22+00:00 Spermatoceles are frequently seen on scrotal ultrasound as an incidental finding and may be present in up to 30% of patients. peter owl:Class HP:0031328 biolink:NamedThing Perivascular cardiac fibrosis A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces. hp0009lx5z 2017-08-27 12:38:28+00:00 peter owl:Class HP:0033849 biolink:NamedThing Bilingual aphasia The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages. hp0009lx5z 2021-06-01 18:43:06+00:00 peter owl:Class HP:0004112 biolink:NamedThing Midline nasal groove An abnormal groove on the midline of the nose that may extend to the nasal tip. hp0009lx5z Central nasal groove|Midline nasal groove peter 2009-01-21T04:59:08Z UMLS:C4025412 human_phenotype owl:Class HP:0032969 biolink:NamedThing Traction bronchiectasis Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts. hp0009lx5z The juxtaposition of numerous cystic airways may make the distinction from pure fibrotic honeycombing difficult. Also the differentation to peribronchovascular interstitial thickening can be difficult, but they can be distinguished on the basis of symptoms or pulmonary function abnormalities. In addition, patients with traction bronchiectasis have abnormal thick-walled and dilated bronchi that often appear much larger than the adjacent pulmonary artery braches, with a bronchoarterial ratio exceeding 1. This results in the appearance of an additional finding, the signet ring sign (HP:0032175). peter owl:Class HP:0025397 biolink:NamedThing Mosaic attenuation pattern on pulmonary HRCT A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography. hp0009lx5z 2017-04-22 13:10:01+00:00 Mosaic attenuation pattern may represent patchy interstitial disease, obliterative small airways disease, or occlusive small vascular disease. HPO:probinson owl:Class HP:0025275 biolink:NamedThing Lateral Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure. hp0009lx5z 2016-12-18 14:47:04+00:00 HPO:probinson owl:Class HP:0004799 biolink:NamedThing Jejunoileal diverticula hp0009lx5z UMLS:C4025290 human_phenotype owl:Class HP:0002179 biolink:NamedThing Opisthotonus hp0009lx5z Opisthotonos Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. UMLS:C0151818|SNOMEDCT_US:8652009 human_phenotype owl:Class HP:0000920 biolink:NamedThing Enlargement of the costochondral junction Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. hp0009lx5z Wide costochondral junctions|Widened costochondral junction|Enlarged costochondral junctions|Prominent costochondral junction|Costochondral thickening HP:0006620 UMLS:C1857180 human_phenotype owl:Class HP:0009735 biolink:NamedThing Spinal neurofibromas Neurofibromas originating in the spine. hp0009lx5z Spinal neurofibromas can affect the spinal cord or the spinal nerve roots. Spinal neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels. peter 2009-01-31T11:19:24Z HP:0007077 UMLS:C4024217 human_phenotype owl:Class HP:0011599 biolink:NamedThing Mesocardia Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. hp0009lx5z peter 2012-04-08T02:41:36Z UMLS:C0265865|Fyler:140|SNOMEDCT_US:16567006|Fyler:0140 owl:Class HP:0011307 biolink:NamedThing Splayed toes Divergence of digits along the anteroposterior axis (in the plane of the sole). hp0009lx5z Splayed toes hecht 2012-02-12T12:38:36Z UMLS:C2117390 human_phenotype owl:Class HP:0033251 biolink:NamedThing Elevated residual volume Increase in the amount of air remaining in a person's lungs after full exhalation. hp0009lx5z Elevated RV 2020-11-25 14:24:29+00:00 peter owl:Class HP:0011564 biolink:NamedThing Mitral valve arcade Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle. hp0009lx5z Hammock mitral valve peter 2012-04-08T10:03:28Z UMLS:C4021143 human_phenotype owl:Class HP:0008740 biolink:NamedThing Longitudinal vaginal septum The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. hp0009lx5z Vertical vaginal septum HP:0008698 UMLS:C1841680 human_phenotype owl:Class HP:0012809 biolink:NamedThing Narrow nasal base Decreased distance between the attachments of the alae nasi to the face. hp0009lx5z Decreased width of base of nose|Thin nasal base|Narrow base of nose|Narrow nasal base|Thin base of nose|Decreased width of nasal base There is a marked difference in width of the nasal base depending on ethnic background. hecht 2014-05-25T05:58:16Z UMLS:C4022717 human_phenotype owl:Class HP:0006461 biolink:NamedThing Proximal femoral epiphysiolysis Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. hp0009lx5z Slipped capilal femoral epiphysis|Slipped end part of innermost thighbone|Slipped capital femoral epiphyses HP:0003000 MSH:D060048|UMLS:C0149887 human_phenotype owl:Class HP:0009995 biolink:NamedThing Partial duplication of the middle phalanx of the 5th finger Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Partial duplication of the middle pinky finger bone|Partial duplication of the middle pinkie finger bone|Partial duplication of the middle little finger bone doelkens 2009-05-26T02:24:47Z UMLS:C4024123 human_phenotype owl:Class HP:0004031 biolink:NamedThing Broad radial diaphysis Increase in width of the diaphysis of radius. hp0009lx5z Wide radial diaphysis Increased diameter of the shaft (diaphysis) of the radius. UMLS:C4021690 human_phenotype owl:Class HP:0002290 biolink:NamedThing Poliosis Circumscribed depigmentation of the hair of the head or the eyelashes. hp0009lx5z Patch of white hair|White patch SNOMEDCT_US:14240001|UMLS:C0221262 human_phenotype owl:Class HP:0011365 biolink:NamedThing Patchy hypopigmentation of hair Reduced pigmentation of hair in patches. hp0009lx5z peter 2012-03-01T09:52:58Z UMLS:C4023395 human_phenotype owl:Class HP:0002159 biolink:NamedThing Heparan sulfate excretion in urine An increased concentration of heparan sulfates in the urine. hp0009lx5z Heparan sulphate excretion in urine UMLS:C1854827 human_phenotype owl:Class HP:0033520 biolink:NamedThing Paradoxical embolism Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation. Comment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke. hp0009lx5z 2021-01-13 13:59:14+00:00 peter owl:Class HP:0030019 biolink:NamedThing Increased female libido Elevated sexual desire in female hp0009lx5z Increased female sex drive UMLS:C4022675 owl:Class HP:0040268 biolink:NamedThing Recurrent infections of the middle ear Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections hp0009lx5z UMLS:C0747085 owl:Class HP:0007453 biolink:NamedThing Flexural lichenification Lichenification affecting primarily flexural areas of the skin. hp0009lx5z The parts of the skin that touch when a joint flexes (bends) are called the flexural surfaces. UMLS:C4024873 human_phenotype owl:Class HP:0100725 biolink:NamedThing Lichenification Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. hp0009lx5z doelkens 2011-06-06T04:18:53Z SNOMEDCT_US:402237006|UMLS:C0023653|SNOMEDCT_US:19940005 human_phenotype owl:Class HP:0032790 biolink:NamedThing Focal impaired awareness behavior arrest seizure A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure. hp0009lx5z Focal impaired awareness behaviour arrest seizure peter owl:Class HP:0011173 biolink:NamedThing Focal behavior arrest seizure A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure. hp0009lx5z Partial seizure with behaviour arrest|Localized seizure with behavioral arrest|Partial hypokinetic seizure|Localised seizure with behavioural arrest|Partial seizure with behavior arrest|Focal behaviour arrest seizure|Focal hypokinetic seizure|Hypokinetic seizure|Hypokinetic seizures The word 'focal' is explicit in the term title to emphasise the difference between these seizures and absence (generalised non-motor) seizures. Because brief behavior arrest is common and difficult to identify at the start of many seizures, the arrest must be persistent and dominant through the entire seizure. If the patient is able to identify that fear is the primary onset feature of the seizure, and results in immobility, the seizure is a focal emotional seizure with fear, and the immobility is then considered a descriptive feature, due to the fear. If the focal seizure is not characterized by this feature at the very outset of the seizure, it is not used to classify the seizure, it is instead used as a seizure descriptor, after the seizure is classified according to its onset feature. hecht 2011-11-19T10:12:04Z UMLS:C4023498 owl:Class HP:0006230 biolink:NamedThing Unilateral oligodactyly hp0009lx5z UMLS:C3805861 human_phenotype owl:Class HP:0012497 biolink:NamedThing Reduced maximal expiratory pressure A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration. hp0009lx5z peter 2013-11-30T08:28:49Z UMLS:C4022879 human_phenotype owl:Class HP:0003088 biolink:NamedThing Premature osteoarthritis hp0009lx5z Premature osteoarthritis|Premature arthritis UMLS:C1835121 human_phenotype owl:Class HP:0000758 biolink:NamedThing Impaired use of nonverbal behaviors Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures. hp0009lx5z Impaired use of nonverbal behaviours|Impaired use of nonverbal behaviors UMLS:C4021798 human_phenotype owl:Class HP:0004470 biolink:NamedThing Atretic occipital cephalocele A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues. hp0009lx5z UMLS:C1836600 human_phenotype owl:Class HP:0011815 biolink:NamedThing Cephalocele A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. hp0009lx5z A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720). peter 2012-04-29T09:04:09Z SNOMEDCT_US:48777005|MSH:D004677|UMLS:C0014065|SNOMEDCT_US:55999004|SNOMEDCT_US:253101008 human_phenotype owl:Class HP:0007958 biolink:NamedThing Optic atrophy from cranial nerve compression hp0009lx5z UMLS:C4024763 human_phenotype owl:Class HP:0000648 biolink:NamedThing Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. hp0009lx5z Optic-nerve degeneration|Optic nerve atrophy The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. HP:0007751|HP:0007855 UMLS:C0029124|MSH:D009896|SNOMEDCT_US:76976005 human_phenotype owl:Class HP:0031335 biolink:NamedThing Abnormal cardiomyocyte mitochondrial morphology An anomaly of the structure of mitochondria within cardiomyocytes. hp0009lx5z 2017-08-27 13:21:27+00:00 peter owl:Class HP:0025619 biolink:NamedThing Elevated plasma cell count An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. hp0009lx5z 2019-04-08 23:53:33+00:00 HPO:probinson owl:Class HP:0100812 biolink:NamedThing Halitosis Noticeably unpleasant odors exhaled in breathing. hp0009lx5z Bad breath|Foetor ex ore doelkens 2011-06-09T02:00:42Z MEDDRA:10006326|SNOMEDCT_US:79879001|UMLS:C0018520|MSH:D006209 owl:Class HP:0100290 biolink:NamedThing Abnormality of peripheral somatosensory evoked potentials hp0009lx5z doelkens 2010-08-10T01:31:37Z UMLS:C4022164 human_phenotype owl:Class HP:0006517 biolink:NamedThing Intraalveolar phospholipid accumulation Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. hp0009lx5z Detection of PAS-positive extracellular material in broncho-alveolar lavage|Pulmonary alveolar proteinosis|Alveolar proteinosis The periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perfom. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP). HP:0032982 SNOMEDCT_US:10501004|UMLS:C0034050|MSH:D011649 owl:Class HP:0025335 biolink:NamedThing Delayed ability to stand A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. hp0009lx5z 2017-02-12 11:48:00+00:00 Child can stand in an upright position on both feet, holding onto a stable object (eg, furniture) for at least 10 s without leaning on it. HPO:probinson owl:Class HP:0009063 biolink:NamedThing Progressive distal muscle weakness Progressively reduced strength of the distal musculature. hp0009lx5z Muscle weakness, progressive, distal|Muscle weakness, distal, progressive HP:0009057|HP:0008933|HP:0009022 UMLS:C1836609 human_phenotype owl:Class HP:0031165 biolink:NamedThing Multifocal seizures Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). hp0009lx5z Multifocal onset seizures 2017-06-18 18:13:43+00:00 peter owl:Class HP:0007476 biolink:NamedThing Anhidrotic ectodermal dysplasia hp0009lx5z MSH:D004476|SNOMEDCT_US:7731005|UMLS:C1706004 human_phenotype owl:Class HP:0100020 biolink:NamedThing Posterior capsular cataract A cataract which is found in the back outer layer of the lens. This type often develops more rapidly. hp0009lx5z doelkens 2010-05-28T11:36:49Z UMLS:C4022388 human_phenotype owl:Class HP:0030005 biolink:NamedThing Capillary leak An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes. hp0009lx5z Systemic capillary leak syndrome|Increased capillary permeability MSH:D019559|UMLS:C1382398|SNOMEDCT_US:1608005|SNOMEDCT_US:87730004|UMLS:C0343084 owl:Class HP:0030140 biolink:NamedThing Oral cavity bleeding Recurrent or excessive bleeding from the mouth. hp0009lx5z Oral cavity haemorrhage|Oral cavity hemorrhage|Oral cavity bleeding|Bleeding from mouth UMLS:C4022608 owl:Class HP:0008353 biolink:NamedThing Neutral hyperaminoaciduria The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine. hp0009lx5z UMLS:C1856194 human_phenotype owl:Class HP:0100558 biolink:NamedThing Hemiatrophy of upper limb Unilateral atrophy (reduction in size) of an arm. hp0009lx5z Hemihypotrophy of upper limb|Asymmetric upper limb shortening doelkens 2010-12-21T04:01:48Z HP:0200052 SNOMEDCT_US:253921005|UMLS:C0431814 human_phenotype owl:Class HP:0030920 biolink:NamedThing 5-minute APGAR score of 0 hp0009lx5z 2016-11-07 18:14:18+00:00 robinp owl:Class HP:0030328 biolink:NamedThing Decreased osteoclast count Decreased number of osteoclasts. hp0009lx5z UMLS:C4022507 owl:Class HP:0041165 biolink:NamedThing Fractured maxilla A partial or complete breakage of the maxilla. hp0009lx5z bone maxilla owl:Class HP:0032121 biolink:NamedThing Froment sign An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint. hp0009lx5z Froment thumb sign 2018-11-17 16:58:42+00:00 peter owl:Class HP:5000020 biolink:NamedThing Anti-LGI1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1). hp0009lx5z Anti-Anti-leucine-rich glioma-inactivated 1 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0000221 biolink:NamedThing Furrowed tongue Accentuation of the grooves on the dorsal surface of the tongue. hp0009lx5z Grooved tongue|Prominent tongue grooves|Scrotal tongue|Lingue plicata|Plicated tongue|Lingual furrow|Fissured tongue Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children. SNOMEDCT_US:52368004|UMLS:C0040412|MSH:D014063 human_phenotype owl:Class HP:0032429 biolink:NamedThing Decreased HDL3a concentration A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. hp0009lx5z 2019-03-02 13:49:28+00:00 peter owl:Class HP:0000017 biolink:NamedThing Nocturia Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. hp0009lx5z Nycturia Often occuring as a result of heart insufficiency. MSH:D053158|UMLS:C0028734|SNOMEDCT_US:139394000 human_phenotype owl:Class HP:0410264 biolink:NamedThing Subglottic hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway. hp0009lx5z Airway hemangioma 2018-10-30 01:47:40+00:00 owl:Class HP:0100519 biolink:NamedThing Anuria Absence of urine, clinically classified as below 50ml/day. hp0009lx5z Absent urine output doelkens 2010-12-20T10:41:00Z SNOMEDCT_US:2472002|MSH:D001002|UMLS:C0003460 human_phenotype owl:Class HP:0001090 biolink:NamedThing Abnormally large globe Diffusely large eye (with megalocornea) without glaucoma. hp0009lx5z Large eyeballs|Increased size of eyes|Large of palpebral fissures|Large eyes|Megalophthalmos|Increased size of palpebral fissures Note that Increased size of palpebral fissues is not a synonym of this term. HP:0200093 UMLS:C0423221|UMLS:C1855852|UMLS:C4280603|SNOMEDCT_US:246920008 human_phenotype owl:Class HP:0032779 biolink:NamedThing Focal impaired awareness autonomic seizure with pupillary dilation/constriction A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0006642 biolink:NamedThing Large sternal ossification centers hp0009lx5z Large sternal ossification centres UMLS:C1865241 human_phenotype owl:Class HP:0007074 biolink:NamedThing Thick corpus callosum Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. hp0009lx5z Large corpus callosum|Abnormal size of corpus callosum HP:0006805|HP:0006807|HP:0200010|HP:0200009 UMLS:C1835194 human_phenotype owl:Class HP:0001662 biolink:NamedThing Bradycardia A slower than normal heart rate (in adults, slower than 60 beats per minute). hp0009lx5z Slow heartbeats|Brachycardia UMLS:C0428977|SNOMEDCT_US:48867003|MSH:D001919 human_phenotype owl:Class HP:0006691 biolink:NamedThing Pulmonic valve myxoma hp0009lx5z UMLS:C4025002 human_phenotype owl:Class HP:0012581 biolink:NamedThing Simple renal cyst An isolated cyst of the kidney. hp0009lx5z Solitary renal cyst|Simple kidney cyst peter 2014-01-16T03:06:37Z UMLS:C4022836|UMLS:C0268800|SNOMEDCT_US:77945009 owl:Class HP:0010871 biolink:NamedThing Sensory ataxia Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. hp0009lx5z Spinal ataxia|Ataxia, sensory|Afferent ataxia Afferent (seonsory) ataxia is caused by lackof proprioceptive feedback during gait and stance. It can be caused by lesions to the peripheral nerves, the dorsal root ganglia, or the spinal cord. It can be distinguished from cerebellar ataxia by (1) heavy dependence of the affected individual on visual guidance; (2) a minor degree of oculomotor deficits; and (3) the absence of dysarthria. Afferent ataxia may be associated with impaired tendon reflexes and sensory deficits. peter 2010-08-18T01:57:54Z UMLS:C0240991|SNOMEDCT_US:445458007|MSH:D001259|SNOMEDCT_US:69131009|UMLS:C0037921 owl:Class HP:0020088 biolink:NamedThing Post-vaccination measles Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases. hp0009lx5z Vaccine associated measles 2019-04-08 17:31:45+00:00 robinp owl:Class HP:0012439 biolink:NamedThing Abnormal biliary tract physiology A functional abnormality of the biliary tree. hp0009lx5z peter 2013-11-23T02:14:51Z UMLS:C4022902 human_phenotype owl:Class HP:0008453 biolink:NamedThing Congenital kyphoscoliosis hp0009lx5z SNOMEDCT_US:405772002|UMLS:C0345392 human_phenotype owl:Class HP:0200012 biolink:NamedThing Short corpus callosum hp0009lx5z sebastiankohler 2010-06-09T11:52:21Z UMLS:C4021902 human_phenotype owl:Class HP:0005768 biolink:NamedThing 2-4 toe cutaneous syndactyly A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4. hp0009lx5z Soft tissue syndactyly of toes 2, 3, and 4|Webbed second, third and fourth toes|Webbed 2nd, 3rd and 4th toes UMLS:C4021622 owl:Class HP:0020099 biolink:NamedThing Severe norovirus infection An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals. hp0009lx5z 2019-04-08 19:02:54+00:00 robinp owl:Class HP:0100211 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe. hp0009lx5z Speckled calcifications in the end part of the outermost bone of the pinkie toe|Speckled calcifications in the end part of the outermost bone of the little toe|Speckled calcifications in the end part of the outermost bone of the pinky toe doelkens 2010-06-24T05:03:31Z UMLS:C4022210 human_phenotype owl:Class HP:0031921 biolink:NamedThing Gastrocnemius myalgia Pain of the gastrocnemius muscle. hp0009lx5z Calf muscle pain|Calf myalgia 2018-07-04 11:57:08+00:00 The gastrocnemius is located together with the soleus muscle in the calf of the leg. Gastrocnemius myalgia refers to pain and tenderness in this muscle with a course of weeks or months or more. Gastrocnemius myalgia is a rarely observed initial manifestion of Crohn disease. peter owl:Class HP:0003184 biolink:NamedThing Decreased hip abduction Reduced ability to move the femur outward to the side. hp0009lx5z Limited hip abduction UMLS:C1836589 human_phenotype owl:Class HP:0009088 biolink:NamedThing Speech articulation difficulties Impairment in the physical production of speech sounds. hp0009lx5z Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities). UMLS:C1865313 human_phenotype owl:Class HP:0008360 biolink:NamedThing Neonatal hypoproteinemia A neonatal decreased concentration of proteins in the blood. hp0009lx5z UMLS:C4024691 human_phenotype owl:Class HP:0000289 biolink:NamedThing Broad philtrum Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. hp0009lx5z Wide philtrum|Increased width of philtrum|Increased breadth of philtrum|Increased horizontal dimension of philtrum|Increased transverse dimension of philtrum The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum. UMLS:C1854111 human_phenotype owl:Class HP:0006355 biolink:NamedThing Agenesis of mandibular central incisor Agenesis of lower secondary incisor or lower primary incisor. hp0009lx5z Missing mandibular central incisor|Missing lower central incisor|Absence of lower central incisor|Absence of mandibular central incisor|Failure of development of mandibular central incisor UMLS:C4025054|UMLS:C1840225 human_phenotype owl:Class HP:0031975 biolink:NamedThing Increased vertical cup-to-disc ratio - 0.7 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). hp0009lx5z 2018-07-08 00:15:02+00:00 peter owl:Class HP:0003003 biolink:NamedThing Colon cancer hp0009lx5z Colon cancer HP:0006718 MSH:D003110|SNOMEDCT_US:363406005|UMLS:C0007102 human_phenotype owl:Class HP:0010661 biolink:NamedThing Absence of the third cerebral ventricle A developmental defect characterized by the absence of the third ventricle. hp0009lx5z peter 2010-02-26T08:00:47Z UMLS:C4023753 owl:Class HP:0031778 biolink:NamedThing Incyclophoria A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other. hp0009lx5z 2018-01-27 11:40:45+00:00 peter owl:Class HP:0031030 biolink:NamedThing Elevated carcinoma antigen 125 level An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer. hp0009lx5z Increased plasma CA125 2017-05-27 10:54:15+00:00 peter owl:Class HP:0033933 biolink:NamedThing Arcuate artery intima/media liquefactive necrosis A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. hp0009lx5z Liquefactive necrosis of the arcuate artery intima/media 2021-06-24 01:22:54+00:00 peter owl:Class HP:0003359 biolink:NamedThing Decreased urinary sulfate Decreased concentration of sulfate in the urine. hp0009lx5z Decreased urinary sulfate|Decreased urinary sulphate UMLS:C1848958 human_phenotype owl:Class HP:0012739 biolink:NamedThing Agenesis of the small intestine Failure to develop of the small intestine. hp0009lx5z Undeveloped small intestine|Small bowel agenesis peter 2014-03-23T04:28:53Z UMLS:C4021071 human_phenotype owl:Class HP:0011426 biolink:NamedThing Fetal choroid plexus cysts Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637). hp0009lx5z Foetal choroid plexus cysts There is agreement that ultrasound characteristics of CPC, such as bilaterality, size, number, complexity, and resolution, are not related to the risk of aneuploidy. However, cysts with diameters less than 5 mm may not be linked with trisomy and large cysts in excess of 10 mm may impart a higher risk. peter 2012-03-17T06:59:50Z UMLS:C3532166|SNOMEDCT_US:462165005 human_phenotype owl:Class HP:0100142 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 3rd toe hp0009lx5z doelkens 2010-06-24T10:23:44Z UMLS:C4022279 human_phenotype owl:Class HP:0031554 biolink:NamedThing Reduced granulocyte CD55 level Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry. hp0009lx5z 2017-09-24 23:23:06+00:00 peter owl:Class HP:0006929 biolink:NamedThing Hypoglycemic encephalopathy Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. hp0009lx5z UMLS:C0149877|SNOMEDCT_US:64624009 human_phenotype owl:Class HP:0003934 biolink:NamedThing Slender humeral diaphysis hp0009lx5z Slender shaft of long bone in upper arm UMLS:C4025495 human_phenotype owl:Class HP:0033167 biolink:NamedThing Neutrophilic urticarial dermatosis A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present. hp0009lx5z 2020-09-24 09:39:14+00:00 Neutrophilic urticarial dermatosis is typically accompanied by systemic symptoms including fever and arthralgias. peter owl:Class HP:0033545 biolink:NamedThing Mesangial fibrillary deposits Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. hp0009lx5z 2021-01-21 13:36:19+00:00 peter owl:Class HP:0031215 biolink:NamedThing Decreased circulating dehydroepiandrosterone-sulfate concentration A reduced concentration of dehydroepiandrosterone-sulfate in the blood. hp0009lx5z Decreased circulating dehydroepiandrosterone-sulfate level 2017-07-02 11:31:34+00:00 DHEA is transformed into DHEA-S by sulfation at the C3beta position by sulfotransferase SULT2A1. peter owl:Class HP:0033006 biolink:NamedThing Diffuse alveolar damage Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation. hp0009lx5z peter owl:Class HP:0032355 biolink:NamedThing Decreased peak expiratory flow A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways. hp0009lx5z 2019-02-23 16:59:55+00:00 peter owl:Class HP:0020126 biolink:NamedThing Prostate mass A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. hp0009lx5z The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. robinp 2019-07-03 17:10:08+00:00 owl:Class HP:0410258 biolink:NamedThing Neutrophilia in absence of infection An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders. hp0009lx5z 2018-10-19 19:23:14+00:00 owl:Class HP:0032573 biolink:NamedThing Elevated urinary cytidine Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond. hp0009lx5z peter owl:Class HP:0033239 biolink:NamedThing Visceral epithelial cell capping Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. hp0009lx5z Podocyte cap 2020-11-01 12:45:51+00:00 peter owl:Class HP:0001135 biolink:NamedThing Chorioretinal dystrophy hp0009lx5z HP:0007920|HP:0007712 UMLS:C1857627 human_phenotype owl:Class HP:0031078 biolink:NamedThing Impaired cortisol response to corticotropin releasing hormone stimulation test Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test. hp0009lx5z 2017-05-28 23:29:58+00:00 peter owl:Class HP:0030604 biolink:NamedThing Abnormal fundus fluorescein angiography An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation. hp0009lx5z UMLS:C4073074 owl:Class HP:0032842 biolink:NamedThing Generalized-onset epileptic spasm A type of epileptic spasm of generalized onset. hp0009lx5z Generalised-onset epileptic spasm|Generalized onset epileptic spasm|Generalised onset epileptic spasm peter owl:Class HP:0011387 biolink:NamedThing Enlarged vestibular aqueduct Increased size of the vestibular aqueduct. hp0009lx5z Dilated vestibular aqueduct|Widened vestibular aqueduct Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. peter 2012-03-09T07:38:34Z MSH:C566366|UMLS:C1863752 human_phenotype owl:Class HP:0010896 biolink:NamedThing Hypersarcosinemia An elevated plasma concentration of sarcosine. hp0009lx5z High plasma sarcosine levels Sarcosine is the N-methyl derivative of glycine. peter 2010-11-30T05:38:24Z SNOMEDCT_US:64852002|MSH:C537236|UMLS:C0268563 human_phenotype owl:Class HP:0033478 biolink:NamedThing Increased circulating lipoprotein lipase concentration Increased concentration of lipoprotein lipase in the blood circulation. hp0009lx5z Elevated lipoprotein lipase level 2021-01-09 22:56:12+00:00 peter owl:Class HP:0009917 biolink:NamedThing Persistent pupillary membrane The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. hp0009lx5z The tunica vasculosa lentis anterior (pupillary membrane) normally undergoes atrophy in the third trimester of pregnancy. If the membrane does not completely atrophy, then remnants of membranous structures can be observed to emrge from the iris. peter 2009-05-02T05:51:28Z SNOMEDCT_US:95500008|UMLS:C0344541 human_phenotype owl:Class HP:0011144 biolink:NamedThing Age-related posterior subcapsular cataract A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule. hp0009lx5z peter 2011-06-27T09:52:45Z UMLS:C4023517 human_phenotype owl:Class HP:0003218 biolink:NamedThing Oroticaciduria An increased concentration of orotic acid in the urine. hp0009lx5z Orotic aciduria|Increased urinary orotic acid concentration|High urine orotic acid levels Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis. HP:0010928|HP:0000810 UMLS:C0268128|SNOMEDCT_US:47641009|SNOMEDCT_US:124277009 human_phenotype owl:Class HP:0008239 biolink:NamedThing Adrenal medullary hypoplasia Developmental hypoplasia of the adrenal medulla. hp0009lx5z Small adrenal medulla UMLS:C4024717 human_phenotype owl:Class HP:0031579 biolink:NamedThing Tessier number 7 facial cleft The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate. hp0009lx5z Tessier facial cleft number 7|Tessier cleft number 7 2017-10-14 12:45:44+00:00 peter owl:Class HP:0033906 biolink:NamedThing Renal intimal/medial arteriolitis Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. hp0009lx5z 2021-06-23 22:50:38+00:00 peter owl:Class HP:0011826 biolink:NamedThing Philtrum with midline raphe Narrow ridge in the midline of the philtral groove. hp0009lx5z Philtrum with midline ridge|Philtrum with central raphe|Philtrum, midline raphe The ridge may be very subtly elevated. peter 2012-05-01T10:33:46Z UMLS:C4021118 human_phenotype owl:Class HP:0410279 biolink:NamedThing Atrophic pituitary gland Partial or complete wasting (loss) of the pituitary gland. hp0009lx5z Pituitary gland atrophy|Atrophic pituitary 2018-10-30 19:54:09+00:00 owl:Class HP:0012388 biolink:NamedThing Acute bronchitis Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness. hp0009lx5z peter 2013-11-07T07:27:42Z UMLS:C0149514|SNOMEDCT_US:35301006|SNOMEDCT_US:10509002 human_phenotype owl:Class HP:0009470 biolink:NamedThing Contracture of the metacarpophalangeal joint of the 3rd finger Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue. hp0009lx5z doelkens 2009-01-15T09:50:20Z UMLS:C4024343 human_phenotype owl:Class HP:0001140 biolink:NamedThing Limbal dermoid A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). hp0009lx5z Epibulbar dermoid|Benign eye tumor|Benign eye tumour|Epibulbar dermoids UMLS:C0496897|SNOMEDCT_US:5131000119107|SNOMEDCT_US:92097004|UMLS:C1867616 human_phenotype owl:Class HP:0000895 biolink:NamedThing Lateral clavicle hook An excessive upward convexity of the lateral clavicle. hp0009lx5z Handlebar clavicle|Hooked clavicle|Hook-shaped collarbone|Hook-shaped clavicle UMLS:C0426805|SNOMEDCT_US:249684000 human_phenotype owl:Class HP:0031159 biolink:NamedThing Thinning of Descemet membrane A reduction in the thickness of Descemet's membrane. hp0009lx5z 2017-06-18 13:55:59+00:00 peter owl:Class HP:0007249 biolink:NamedThing Decreased number of small peripheral myelinated nerve fibers hp0009lx5z Decreased number of small peripheral myelinated nerve fibres UMLS:C4024916 human_phenotype owl:Class HP:0010538 biolink:NamedThing Small sella turcica An abnormally small sella turcica. hp0009lx5z Small pituitary fossa|Hypoplasia of pituitary fossa|Hypoplasia of hypophseal fossa|Small hypophyseal fossa|Hypoplasia of sella turcica peter 2009-09-21T10:19:05Z UMLS:C4072876|UMLS:C4072875|UMLS:C4023794 human_phenotype owl:Class HP:0033776 biolink:NamedThing Enamel pearls Small nodules of enamel on the root of a tooth. hp0009lx5z 2021-05-07 09:49:37+00:00 Enamel pearls can typically not be seen on X-rays but need direct visualization. The pearls can be present on the surface of the dentine or cement of deciduous teeth, with a frequency of 33% or on the roots of maxillary molars, with a frequency of 1.2%. peter owl:Class HP:0007394 biolink:NamedThing Prominent superficial blood vessels hp0009lx5z Prominent superficial vasculature|Prominent superficial blood vessels HP:0007577 UMLS:C1848771 owl:Class HP:0012171 biolink:NamedThing Stereotypical hand wringing Habitual clasping and squeezing of the hands. hp0009lx5z peter 2013-02-20T09:44:45Z UMLS:C4023014 human_phenotype owl:Class HP:0030608 biolink:NamedThing Increased OCT-measured macular thickness hp0009lx5z UMLS:C4073078 owl:Class HP:0410324 biolink:NamedThing Dust mite allergy Hypersensitivity in form of an adverse immune reaction against dust mites. hp0009lx5z Immunoglobulin E-mediated dust mite allergy|Allergy to dust mites|Dust mite allergy|IgE-mediated dust mite allergy owl:Class HP:0011224 biolink:NamedThing Ablepharon Absent eyelids. hp0009lx5z Absent eyelids|Ablepharon of eyelid|Missing eyelids|Aplasia of the eyelids|Agenesis of eyelids In ablepharon, the globe is continuously exposed. It is arguable whether true aplasia of the eyelid exists, or whether this represents severe hypoplasia. Nevertheless, as it is difficult or impossible to make this distinction on clinical grounds, the term was felt to be useful. peter 2011-12-13T07:58:12Z HP:0009925 UMLS:C4020757|SNOMEDCT_US:13401001|SNOMEDCT_US:708541009|UMLS:C0266574 human_phenotype owl:Class HP:0030835 biolink:NamedThing Elbow pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow. hp0009lx5z Elbow pain UMLS:C0239266|SNOMEDCT_US:74323005 owl:Class HP:0005304 biolink:NamedThing Hypoplastic pulmonary veins hp0009lx5z Underdeveloped lung veins UMLS:C1970501 human_phenotype owl:Class HP:0003954 biolink:NamedThing Angulated forearm bones hp0009lx5z Angulated forearm bones UMLS:C4025483 human_phenotype owl:Class HP:0500133 biolink:NamedThing Hypotyrosinemia An decreased concentration of tyrosine in the blood. hp0009lx5z Decreased tyrosine in blood|Low blood tyrosine concentration 2018-10-01 15:01:56+00:00 owl:Class HP:0025374 biolink:NamedThing Duplicated odontoid process The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates. hp0009lx5z 2017-04-08 13:00:41+00:00 The odontoid process forms from different ossification centers. Two centers normally appear on each side of the midline around the fifth or sixth month of fetal life. These two centers usually fuse by one year of age. When there is a delay in fusion, a longitudinal midline cleft may be seen. Duplication of the odontoid process most likely is the result of a lack of fusion of these two centers of ossification [from PMID:9367321]. HPO:probinson owl:Class HP:0030078 biolink:NamedThing Lung adenocarcinoma hp0009lx5z NCIT:C2852|MSH:C538231|SNOMEDCT_US:254626006|UMLS:C0152013 owl:Class HP:0032534 biolink:NamedThing Exacerbated by methylxanthine ingestion Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate). hp0009lx5z Methylxanthines produce worsening 2019-05-27 13:08:24+00:00 peter owl:Class HP:0030059 biolink:NamedThing Mitochondrial depletion An abnormal reduction in mitochondrial DNA content of cells. hp0009lx5z UMLS:C4022659 owl:Class HP:0030212 biolink:NamedThing Collectionism Excessive or pathological tendency to save and collect possessions. hp0009lx5z Compulsive hoarding UMLS:C0424290|SNOMEDCT_US:247968005 owl:Class HP:0033945 biolink:NamedThing Arcuate intimal/medial granulomatous venulitis A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. hp0009lx5z 2021-06-24 01:56:15+00:00 peter owl:Class HP:0002723 biolink:NamedThing Absence of bactericidal oxidative respiratory burst in phagocytes An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. hp0009lx5z UMLS:C1844385 human_phenotype owl:Class HP:0012421 biolink:NamedThing Congenital absence of foreskin Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis. hp0009lx5z Aposthia|Absent foreskin Absence of the foreskin can be accompanied by Cryptorchidism and Hypospadias, which should be coded separately. peter 2013-11-10T06:17:21Z SNOMEDCT_US:300519001|UMLS:C0577242 human_phenotype owl:Class HP:0020186 biolink:NamedThing Multilobulated spleen The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen. hp0009lx5z Multi-lobulated spleen Sometimes a splenic lobule may extend medially anterior to the upper pole of the left kidney and less often posterior to the upper pole of the left kidney. Although these lobules are not of any clinical importance, close relation of the splenic lobule to the upper pole of the left kidney may cause misinterpretations as a mass originating from the kidney by the radiologists. robinp 2019-09-03 12:36:55+00:00 owl:Class HP:0031963 biolink:NamedThing Decreased serum anion gap An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). hp0009lx5z 2018-07-07 14:31:52+00:00 Low values of the serum anion gap most commonly indicate laboratory error or hypoalbuminemia but can denote the presence of a paraproteinemia or intoxication with lithium, bromide, or iodide. peter owl:Class HP:0003138 biolink:NamedThing Increased blood urea nitrogen An increased amount of nitrogen in the form of urea in the blood. hp0009lx5z Increased blood urea nitrogen|Increased BUN UMLS:C0151539 human_phenotype owl:Class HP:0020193 biolink:NamedThing Prolonged reptilase time An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds. hp0009lx5z Reptilase time may be increased with a deficiency of fibronogen. Unlike the thrombin time, this assay is not affected by the presence of heparin, hirudin, or direct thrombin inhibitors in a blood sample. robinp 2019-09-05 13:57:09+00:00 owl:Class HP:0004293 biolink:NamedThing Synostosis of second metacarpal-trapezoid Fusion of the second metacarpal-trapezoid. hp0009lx5z Fusion of second metacarpal-trapezoid UMLS:C4021665 human_phenotype owl:Class HP:0032454 biolink:NamedThing Labial melanotic macule Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture. hp0009lx5z Labial melanotic freckle 2019-03-08 11:08:58+00:00 peter owl:Class HP:0007524 biolink:NamedThing Atypical neurofibromatosis hp0009lx5z UMLS:C0220695|MSH:C537392 human_phenotype owl:Class HP:0100029 biolink:NamedThing Lingual thyroid An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend. hp0009lx5z A lingual thyroid is the most common form of an aberrant thyroid gland. doelkens 2010-06-10T10:20:31Z SNOMEDCT_US:129123002|SNOMEDCT_US:21279007|UMLS:C0266284|MSH:D046151 human_phenotype owl:Class HP:0032762 biolink:NamedThing Focal autonomic seizure with pallor/flushing A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature. hp0009lx5z peter owl:Class HP:0500011 biolink:NamedThing Moon facies A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. hp0009lx5z Puffy face|Puffy facies|Moon face Moon facies can occur in persons treated with high-dose corticosteroids or with Cushing disease. owl:Class HP:0500088 biolink:NamedThing Foveal depigmentation Loss of pigment in the fovea centralis. hp0009lx5z 2018-03-20 20:30:24+00:00 owl:Class HP:0011613 biolink:NamedThing Interrupted aortic arch type B Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries. hp0009lx5z Interrupted aortic arch, type b peter 2012-04-08T03:18:58Z UMLS:C0345093|Fyler:1252|SNOMEDCT_US:253682003 human_phenotype owl:Class HP:0006799 biolink:NamedThing Basal ganglia cysts hp0009lx5z Cystic lesions in the basal ganglia HP:0007244 UMLS:C1837251 human_phenotype owl:Class HP:0003223 biolink:NamedThing Decreased methylcobalamin Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. hp0009lx5z Methylcobalamin deficiency HP:0008287 UMLS:C4021736 human_phenotype owl:Class HP:0025552 biolink:NamedThing Periorbital purpura Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding. hp0009lx5z 2017-07-09 13:14:08+00:00 HPO:probinson owl:Class HP:0010803 biolink:NamedThing Everted upper lip vermilion Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. hp0009lx5z Everted prominent upper lip|Everted upper lip|Outward turned upper lip|Protruding upper lip|Eclabium of upper lip|Drooping upper lip In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately. peter 2010-06-26T02:30:13Z UMLS:C4280363|UMLS:C3275452|UMLS:C4023698 human_phenotype owl:Class HP:0025109 biolink:NamedThing Reduced red cell pyruvate kinase level Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. hp0009lx5z Reduced erythrocyte pyruvate kinase activity 2016-10-29 00:37:18+00:00 HPO:probinson owl:Class HP:0033341 biolink:NamedThing Elevated circulating sitosterol concentration An increased concentration of beta-sitosterol in the blood circulation. hp0009lx5z Elevated circulating beta-sitosterol concentration 2020-11-30 12:46:27+00:00 Sitosterol (also known as beta-sitosterol) is a phytosterols with a chemical structure similar to that of cholesterol. peter owl:Class HP:3000039 biolink:NamedThing Abnormality of dorsal nasal artery An abnormality of a dorsal nasal artery. hp0009lx5z vasilevs 2015-08-07T00:36:15Z UMLS:C4073247 human_phenotype owl:Class HP:0025455 biolink:NamedThing Decreased CSF 5-hydroxyindolacetic acid CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal. hp0009lx5z Low CSF 5-HIAA|Low CSF 5-hydroxyindolacetic acid|Decreased CSF 5-HIAA 2017-05-05 10:26:09+00:00 HPO:probinson owl:Class HP:0010088 biolink:NamedThing Curved proximal phalanx of the hallux A deviation from the normal straight form of the proximal phalanx of the big toe. hp0009lx5z Curved innermost bone of the big toe doelkens 2009-05-29T12:17:16Z UMLS:C4024059 human_phenotype owl:Class HP:0006747 biolink:NamedThing Ganglioneuroblastoma hp0009lx5z SNOMEDCT_US:69515008|SNOMEDCT_US:116381000119105|UMLS:C0206718|MSH:D018305 human_phenotype owl:Class HP:0040017 biolink:NamedThing Protruding coccyx hp0009lx5z Protruding tailbone HPO:skoehler UMLS:C4022489 owl:Class HP:0006144 biolink:NamedThing Shortening of all proximal phalanges of the fingers Congenital hypoplasia of proximal phalanx of finger or all fingers. hp0009lx5z Shortening of all innermost bones of the fingers HP:0006021 UMLS:C4025089 human_phenotype owl:Class HP:0030974 biolink:NamedThing Cryptozoospermia A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). hp0009lx5z Cryptospermia 2017-04-18 15:25:12+00:00 robinp owl:Class HP:0000798 biolink:NamedThing Oligospermia Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. hp0009lx5z Low sperm count UMLS:C0028960|MSH:D009845 human_phenotype owl:Class HP:0025427 biolink:NamedThing Abnormal bronchus physiology Any anomaly of the function of the bronchi. hp0009lx5z 2017-04-23 12:51:32+00:00 HPO:probinson owl:Class HP:0009884 biolink:NamedThing Tapered distal phalanges of finger A reduction in diameter of the distal phalanx of finger towards the distal end. hp0009lx5z Tapered outermost finger bone|Tapered distal phalanges of the hand|Tapered distal phalanges doelkens 2009-04-24T04:40:31Z HP:0006052 UMLS:C1969237 human_phenotype owl:Class HP:0003805 biolink:NamedThing Rimmed vacuoles Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. hp0009lx5z 'rimmed vacuoles' on biopsy|'rimmed' vacuoles on biopsy Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers. HP:0009029 UMLS:C1853932 human_phenotype owl:Class HP:0100884 biolink:NamedThing Compensatory scoliosis A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time. hp0009lx5z doelkens 2011-12-01T02:56:41Z UMLS:C0343292|SNOMEDCT_US:203645000 human_phenotype owl:Class HP:0032029 biolink:NamedThing Floppy eyelid Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis. hp0009lx5z 2018-09-01 14:47:22+00:00 peter owl:Class HP:0001543 biolink:NamedThing Gastroschisis A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. hp0009lx5z MSH:D020139|MEDDRA:10018046|SNOMEDCT_US:72951007|UMLS:C0265706 human_phenotype owl:Class HP:0006634 biolink:NamedThing Osteosclerosis of ribs Osteosclerosis of ribs (increased density related to increased bone mass). hp0009lx5z Increased bone density in ribs UMLS:C4025013 human_phenotype owl:Class HP:0033218 biolink:NamedThing Glomerular hyalinosis at the tubular pole Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. hp0009lx5z 2020-10-24 12:19:40+00:00 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. peter owl:Class HP:0030229 biolink:NamedThing Accumulation of muscle fiber valosin-containing protein Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy. hp0009lx5z Accumulation of muscle fibre valosin-containing protein UMLS:C4022569 owl:Class HP:0010427 biolink:NamedThing Partial duplication of the middle phalanx of the 2nd toe Partial duplication of middle phalanx of second toe. hp0009lx5z Partial duplication of the middle bone of the 2nd toe doelkens 2009-07-16T12:58:18Z UMLS:C4023832 human_phenotype owl:Class HP:0003921 biolink:NamedThing Laterally sloping humeral metaphysis hp0009lx5z Laterally sloping metaphysis of long bone of upper arm UMLS:C4025506 human_phenotype owl:Class HP:0003148 biolink:NamedThing Elevated serum acid phosphatase hp0009lx5z Acid phosphatase elevated|Elevated serum acid phosphatase Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. UMLS:C1839866 human_phenotype owl:Class HP:0012834 biolink:NamedThing Right Being located on the right side of the body. hp0009lx5z Right-sided peter 2014-06-06T07:21:46Z SNOMEDCT_US:264180000|UMLS:C0444532 human_phenotype owl:Class HP:0031222 biolink:NamedThing Increased circulating thyroxine-binding globulin level An elevated concentration of thyroxine-binding globulin (TBG) in the blood. hp0009lx5z 2017-07-02 12:03:22+00:00 Thyroxine-binding globulin is one of the proteins that binds thyroid hormones in the circulation. peter owl:Class HP:0012500 biolink:NamedThing Verrucous papule A wartlike (with multiple small elevated projections) papule. hp0009lx5z Papillomatous papule peter 2013-11-30T09:03:16Z UMLS:C4022877 human_phenotype owl:Class HP:0011485 biolink:NamedThing Corneolenticular adhesion Developmental abnormality in which the lens and cornea are not separated. hp0009lx5z peter 2012-04-02T08:52:43Z UMLS:C4023334 human_phenotype owl:Class HP:0033632 biolink:NamedThing Abnormal alveolar volume Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas. hp0009lx5z 2021-02-01 13:14:58+00:00 Only a portion of each tidal volume (Vt) reaches the alveoli and participates in gas exchange. This is referred to as the alveolar volume (Va). The remainder, the so-called dead space volume (Vd), consists of gas that fills the upper and lower airways (anatomic dead space) or reaches nonperfused or relatively poorly perfused alveoli (alveolar dead space). peter owl:Class HP:0033221 biolink:NamedThing Increased CD4:CD8 ratio An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells. hp0009lx5z 2020-10-29 11:06:41+00:00 peter owl:Class HP:0000128 biolink:NamedThing Renal potassium wasting High urine potassium in the presence of hypokalemia. hp0009lx5z Renal K wasting A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting. UMLS:C1846348 human_phenotype owl:Class HP:0041063 biolink:NamedThing Chronic decreased cirulating IgG2 A lasting decrease of immunoglobulin G2 (IgG2) in the blood. hp0009lx5z Chronic decreased IgG2 in blood owl:Class HP:0011094 biolink:NamedThing Increased overbite Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm. hp0009lx5z Scissors bite|Increased overlap of upper and lower incisors|Deep bite|Overbite|Supraocclusion|Deep overbite peter 2011-03-11T05:13:34Z UMLS:C0266063|UMLS:C0266067|UMLS:C1305740|SNOMEDCT_US:60476005|SNOMEDCT_US:251293001|SNOMEDCT_US:63783001|MSH:D057887|SNOMEDCT_US:10816007 owl:Class HP:0410152 biolink:NamedThing Eosinophilic microabscess formation in the esophagus The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques. hp0009lx5z Eosinophilic microabscess formation in the oesophagus|Eosinophilic micro-abscess formation in the esophagus|Eosinophilic micro-abscess formation in the oesophagus 2018-03-13 04:43:53+00:00 owl:Class HP:0032275 biolink:NamedThing Recurrent shingles Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes. hp0009lx5z 2019-01-27 21:15:51+00:00 peter owl:Class HP:0005425 biolink:NamedThing Recurrent sinopulmonary infections An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. hp0009lx5z Chronic sinopulmonary infection|Recurrent sinus and lung infections UMLS:C1846546 human_phenotype owl:Class HP:0025529 biolink:NamedThing Hyperpigmented nodule A nodule of the skin that exhibits an increased amount of pigmentation. hp0009lx5z 2017-05-18 00:19:15+00:00 HPO:probinson owl:Class HP:0007016 biolink:NamedThing Corticospinal tract hypoplasia hp0009lx5z UMLS:C1844007 human_phenotype owl:Class HP:0100693 biolink:NamedThing Iridodonesis Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. hp0009lx5z doelkens 2011-02-18T05:11:16Z UMLS:C0423320|SNOMEDCT_US:118166004 human_phenotype owl:Class HP:0030336 biolink:NamedThing Absence of CD4-positive, CD25-positive regulatory T cells Lack of CD4+CD25+ T regulatory cells. hp0009lx5z Absence of CD4+CD25+ Tregs|Absence of CD4+CD25+ T regulatory cells UMLS:C4021039 owl:Class HP:0001082 biolink:NamedThing Cholecystitis The presence of inflammatory changes in the gallbladder. hp0009lx5z Gallbladder inflammation SNOMEDCT_US:76581006|MSH:D002764|UMLS:C0008325 human_phenotype owl:Class HP:0006170 biolink:NamedThing Chess-pawn distal phalanges A morphological abnormality of distal phalanges such that they have the appearance of chess pawns. hp0009lx5z Chess-pawn shaped outermost bone UMLS:C1862097 human_phenotype owl:Class HP:0004264 biolink:NamedThing Narrow carpal joint spaces hp0009lx5z Decreased carpal joint angles HP:0004265 UMLS:C4021666 human_phenotype owl:Class HP:0100694 biolink:NamedThing Tibial torsion Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia. hp0009lx5z Normally, lateral rotation of the tibia increases from approximately 5 degrees at birth to approximately 15 degrees at maturity. Tibial torsion is the most common cause of intoeing. In a study by Mullaji et al to determine tibial torsion norms, individuals in India were found to have less tibial torsion than Caucasians but about the same amount as the Japanese population. The differences in normal tibial torsion values are expected to be caused by the different lifestyles and postures of the different populations, such as cross-legged sitting positions. doelkens 2011-03-28T05:04:08Z UMLS:C0426900|SNOMEDCT_US:249785006 human_phenotype owl:Class HP:0030488 biolink:NamedThing Abnormal central response of multifocal electroretinogram hp0009lx5z UMLS:C4072978 owl:Class HP:3000027 biolink:NamedThing Abnormality of buccinator muscle An abnormality of a buccinator muscle. hp0009lx5z vasilevs 2015-08-07T00:16:16Z UMLS:C4073236 human_phenotype owl:Class HP:0011971 biolink:NamedThing Dermatographic urticaria An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). hp0009lx5z Dermographism|Dermatographism|Skin writing peter 2012-07-18T08:42:25Z UMLS:C0343065|SNOMEDCT_US:7632005|SNOMEDCT_US:402601007|SNOMEDCT_US:402410006 owl:Class HP:0007466 biolink:NamedThing Midfrontal capillary hemangioma hp0009lx5z UMLS:C1859339 human_phenotype owl:Class HP:0032742 biolink:NamedThing Focal aware emotional seizure with pleasure Focal emotional seizure with pleasure in which awareness is retained throughout. hp0009lx5z peter owl:Class HP:0010517 biolink:NamedThing Ectopic thymus tissue The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. hp0009lx5z Abnormal thymus position peter 2009-09-19T04:30:35Z UMLS:C4023795 human_phenotype owl:Class HP:0030054 biolink:NamedThing Perifollicular fibrosis Presence of excess fibrous connective tissue surrounding hair follicules. hp0009lx5z UMLS:C2748531 owl:Class HP:0030797 biolink:NamedThing Reduced volume of central subdivision of bed nucleus of stria terminalis A diminished volume of the central part of the bed nucleus of the stria terminalis. hp0009lx5z This structure is larger in men than in females. UMLS:C4280762 owl:Class HP:0000347 biolink:NamedThing Micrognathia Developmental hypoplasia of the mandible. hp0009lx5z Hypotrophic lower jaw|Hypoplasia of mandible|Little mandible|Mandibular retrognathia|Small lower jaw|Decreased projection of lower jaw|Decreased size of mandible|Hypoplastic mandible condyle|Mandibular retrusion|Underdevelopment of mandible|Lower jaw hypoplasia|Micrognathia of lower jaw|Hypoplastic mandible|Robin mandible|Lower jaw deficiency|Hypoplasia of lower jaw|Deficiency of lower jaw|Mandibular micrognathia|Little lower jaw|Small mandible|Underdevelopment of lower jaw|Hypotrophic mandible|Decreased size of lower jaw|Micromandible|Lower jaw retrusion|Mandibular deficiency|Small jaw|Mandibular hypoplasia|Severe hypoplasia of mandible|Decreased projection of mandible|Retrusion of lower jaw Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. HP:0005460|HP:0002674|HP:0000330|HP:0002005|HP:0000345|HP:0000210|HP:0005470|HP:0004669 SNOMEDCT_US:32958008|UMLS:C1857130|UMLS:C0240295|UMLS:C0025990|MSH:D008844|Fyler:4163 human_phenotype owl:Class HP:0000283 biolink:NamedThing Broad face Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). hp0009lx5z Increased width of face|Transverse excess of face|Increased breadth of face|Broad face|Wide facies|Transverse hyperplasia of face|Broad facies|Increased horizontal dimension of face|Increased transverse dimension of face|Horizontal hyperplasia of face|Wide face|Horizontal excess of face Note that broad face is distinct from round face. UMLS:C1859680 human_phenotype owl:Class HP:0033531 biolink:NamedThing Decreased cardiac index A reduced cardiac index, defined as cardiac output divided by body surface area. hp0009lx5z 2021-01-15 12:55:00+00:00 peter owl:Class HP:0011092 biolink:NamedThing Mulberry molar Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. hp0009lx5z Syphilitic permanent first molar peter 2011-03-11T02:25:56Z SNOMEDCT_US:109436001|UMLS:C0266024 owl:Class HP:0100515 biolink:NamedThing Pollakisuria Increased frequency of urination. hp0009lx5z Frequent urination|Constant urination doelkens 2010-12-20T10:34:28Z SNOMEDCT_US:300471006|SNOMEDCT_US:162116003|UMLS:C0042023 human_phenotype owl:Class HP:0100890 biolink:NamedThing Cyst of the ductus choledochus hp0009lx5z Choledochal cyst doelkens 2011-12-01T05:02:35Z SNOMEDCT_US:398197009|MSH:D015529|UMLS:C0008340|SNOMEDCT_US:440471007|SNOMEDCT_US:397868007 human_phenotype owl:Class HP:0100889 biolink:NamedThing Abnormality of the ductus choledochus An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. hp0009lx5z Abnormality of the common bile duct doelkens 2011-12-01T04:52:13Z UMLS:C4020944 human_phenotype owl:Class HP:0011561 biolink:NamedThing Overriding atrioventricular valve An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect. hp0009lx5z Straddling and overriding atrioventricular valves usually occur in combination. peter 2012-04-07T12:09:28Z UMLS:C4023298 human_phenotype owl:Class HP:0500055 biolink:NamedThing Retinopathy of prematurity stage 4b A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well. hp0009lx5z ROP 4b 2018-02-19 18:56:48+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0005832 biolink:NamedThing Dysharmonic delayed bone age A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. hp0009lx5z HP:0005840 UMLS:C1859444 human_phenotype owl:Class HP:0020215 biolink:NamedThing Thinking-induced seizure Seizures induced by thinking and decision-making. comment: hp0009lx5z Cognition induced seizure These have been reported occurring in response to higher nonverbal mental activity such as playing chess or card games, performing mathematical calculation, drawing complex figures, manipulating spatial information, and typing. robinp 2020-02-24 13:53:17+00:00 owl:Class HP:0030937 biolink:NamedThing Fibrotic muscularis propria The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process. hp0009lx5z 2016-12-02 21:21:03+00:00 robinp owl:Class HP:0025043 biolink:NamedThing Enlarged mesenteric lymph node Increase in size of one or more mesenteric lymph nodes. hp0009lx5z 2016-09-25 14:26:25+00:00 Mesenteric lymph nodes measured by CT as being larger than 10 mm are considered enlarged. HPO:probinson owl:Class HP:0007272 biolink:NamedThing Progressive psychomotor deterioration hp0009lx5z Progressive mental and motor deterioration HP:0006856 UMLS:C1856565 owl:Class HP:0004562 biolink:NamedThing Beaking of vertebral bodies T12-L3 hp0009lx5z UMLS:C1854941 human_phenotype owl:Class HP:0033523 biolink:NamedThing Abnormal sperm principal piece morphology A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece. hp0009lx5z 2021-01-14 13:15:10+00:00 peter owl:Class HP:5000001 biolink:NamedThing Anti-AMPAR antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR). hp0009lx5z Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody ORCID:0000-0002-3387-1836 owl:Class HP:0007429 biolink:NamedThing Few cafe-au-lait spots The presence of two to five cafe-au-lait macules. hp0009lx5z UMLS:C4024881 human_phenotype owl:Class HP:0033290 biolink:NamedThing Glomerular subendothelial widening Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. hp0009lx5z 2020-11-28 21:22:38+00:00 peter owl:Class HP:0007932 biolink:NamedThing Bilateral congenital mydriasis Congenital abnormal dilation of the pupil on both sides. hp0009lx5z UMLS:C4024770 human_phenotype owl:Class HP:0033140 biolink:NamedThing Blake's pouch cyst The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna. hp0009lx5z 2020-09-12 15:35:37+00:00 peter owl:Class HP:0500032 biolink:NamedThing Abnormal neuron branching Abnormality of the structure and branching of the dendrites of a neuron. hp0009lx5z Abnormal neuronal branching|Aberrant neuronal branching 2017-06-07 17:35:08+00:00 ORCID:0000-0003-0169-8159 ORCID:0000-0001-7941-2961 owl:Class HP:0012757 biolink:NamedThing Abnormal neuron morphology A structural anomaly of a neuron. hp0009lx5z Abnormal neuronal morphology|Abnormal neuron shape peter 2014-04-02T05:12:30Z UMLS:C4022739 human_phenotype owl:Class HP:0011093 biolink:NamedThing Molarization of premolar Increased size and molar morphology of premolar tooth. hp0009lx5z Increased size of premolar|Molar shape of bicuspid|Molarization of bicuspid|Molar shape of premolar|Enlarged premolar peter 2011-03-11T02:32:39Z UMLS:C4280334|UMLS:C1404304 human_phenotype owl:Class HP:0005152 biolink:NamedThing Histiocytoid cardiomyopathy A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells. hp0009lx5z Isolated cardiac lipidosis|Arachnocytosis of the myocardium|Myocardial or conduction system hamartoma|Foamy myocardial transformation|Infantile cardiomyopathy with histiocytoid changes|Focal lipid cardiomyopathy|Infantile xanthomatous cardiomyopathy|Oncocytic cardiomyopathy This HPO term intends to refer to the histological changes that characterize histiocytoid cardiomyopthy. The disease entity Histiocytoid cardiomyopathy is a rare arrhythmogenic disorder characterized by incessant ventricular tachycardia, cardiomegaly, and often sudden death by age 2 years. UMLS:C1708371|MSH:C535584 human_phenotype owl:Class HP:0025351 biolink:NamedThing Recurrent interdigital mycosis A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers. hp0009lx5z Recurrent interdigital tinea 2017-02-13 00:11:13+00:00 HPO:probinson owl:Class HP:0009941 biolink:NamedThing Asymmetry of the mouth The presence of an asymmetric mouth. hp0009lx5z Uneven mouth|Asymmetry of the mouth|Crooked mouth|Canted mouth|Tilted mouth|Asymmetry of oral cavity peter 2009-05-10T11:30:31Z UMLS:C4024153 human_phenotype owl:Class HP:0010311 biolink:NamedThing Aplasia/Hypoplasia of the breasts Absence or underdevelopment of the breasts. hp0009lx5z Absent/small breasts|Absent/underdeveloped breasts peter 2009-07-12T02:31:49Z UMLS:C4023911 human_phenotype owl:Class HP:0006783 biolink:NamedThing Posterior pharyngeal cleft hp0009lx5z UMLS:C1848389 human_phenotype owl:Class HP:0007328 biolink:NamedThing Impaired pain sensation Reduced ability to perceive painful stimuli. hp0009lx5z Decreased pain sensation|Decreased pinprick sensation|Impaired pain sensation HP:0002713 UMLS:C1837522 human_phenotype owl:Class HP:0010619 biolink:NamedThing Fibroadenoma of the breast A benign biphasic tumor of the breast with epithelial and stromal components. hp0009lx5z Breast fibroadenomas|Breast fibroadenosis|Breast fibroadenoma|Fibroadenosis of breast|Fibroadenosis - breast A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman. sandra1 2009-10-28T06:13:11Z NCIT:C3744|SNOMEDCT_US:254845004|UMLS:C0178421 owl:Class HP:0010716 biolink:NamedThing 3-5 toe syndactyly Syndactyly with fusion of toes three to five. hp0009lx5z Webbed 3rd-5th toes sdoelken 2010-03-26T05:22:26Z UMLS:C4023723 human_phenotype owl:Class HP:0011572 biolink:NamedThing Supramitral ring A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve. hp0009lx5z Membranous supravalvular mitral stenosis|Supravalvular mitral ring peter 2012-04-08T08:49:07Z UMLS:C4021142 human_phenotype owl:Class HP:0007240 biolink:NamedThing Progressive gait ataxia A type of gait ataxia displaying progression of clinical severity. hp0009lx5z Gait ataxia, progressive HP:0002142 UMLS:C1843885 human_phenotype owl:Class HP:0008278 biolink:NamedThing Cerebellar cortical atrophy Atrophy (wasting) of the cerebellar cortex. hp0009lx5z Cerebellar cortex degeneration Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells. UMLS:C4024710 owl:Class HP:0031541 biolink:NamedThing Linear C3 deposits along the epidermal basement membrane zone Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. hp0009lx5z 2017-09-24 01:36:15+00:00 peter owl:Class HP:0100027 biolink:NamedThing Recurrent pancreatitis A recurrent form of pancreatitis. hp0009lx5z Recurring pancreas inflammation|Recurring pancreatitis doelkens 2010-06-01T01:45:23Z MSH:D050500|SNOMEDCT_US:235494005|SNOMEDCT_US:233870001|SNOMEDCT_US:234689009|UMLS:C0149521 human_phenotype owl:Class HP:0012879 biolink:NamedThing Anejaculation Inability to ejaculate. hp0009lx5z Ejaculatory incompetence hecht 2014-06-09T11:33:16Z SNOMEDCT_US:248782001|UMLS:C0278106|SNOMEDCT_US:42288005 human_phenotype owl:Class HP:0012466 biolink:NamedThing Chronic respiratory acidosis Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L). hp0009lx5z peter 2013-11-24T01:11:15Z SNOMEDCT_US:8764008|UMLS:C0268048 human_phenotype owl:Class HP:0031613 biolink:NamedThing Inferior chorioretinal coloboma Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus. hp0009lx5z 2017-12-16 12:49:21+00:00 peter owl:Class HP:0200057 biolink:NamedThing Marcus Gunn pupil An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye. hp0009lx5z Relative afferent pupil defect|Relative afferent pupillary defect sebastiankohler 2012-11-18T12:14:22Z SNOMEDCT_US:247015002|SNOMEDCT_US:232122003|UMLS:C0549122 owl:Class HP:0032262 biolink:NamedThing Pulmonary tuberculosis A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria. hp0009lx5z Pulmonary TB 2019-01-27 19:04:54+00:00 Predisposing factors include poverty, social disruption, malnutrition, different causes of immune suppression, human immunodeficiency virus (HIV) infection, HIV-TB co-infection and increasing drug resistance. peter owl:Class HP:0032185 biolink:NamedThing Disseminated molluscum contagiosum The presense of molluscum contagiosum lesions across multiple areas of the body. hp0009lx5z 2019-01-12 14:58:01+00:00 Molluscum contagiosum (MC) are very common cutaneous warts caused by molluscum contagiosum virus (MCV), a double-stranded DNA virus of the poxvirus family. The typical clinical presentation consists of small, umbilicated, skin-coloured, pearly papules with predilection of the trunk, axillae, antecubital and popliteal fossae and genital area. Incidence first peaks in pre-school children. In immunocompetent individuals, lesions usually clear spontaneously within several months or years. peter owl:Class HP:0005929 biolink:NamedThing Synostosis involving the tibia hp0009lx5z Bone fusion involving the shinbone peter 2008-03-27T02:34:00Z UMLS:C4025103 human_phenotype owl:Class HP:0003852 biolink:NamedThing Normal density transverse bands in metaphyses of the upper limbs hp0009lx5z UMLS:C4025553 human_phenotype owl:Class HP:0003513 biolink:NamedThing Reduced ratio of renal calcium clearance to creatinine clearance A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. hp0009lx5z Reduced ration of renal Ca2+ to creatinine clearance|Reduced ration of renal Ca clearance to creatinine clearance|Reduced ration of kidney calcium clearance to creatinine clearance UMLS:C4025605 human_phenotype owl:Class HP:0011129 biolink:NamedThing Bilateral fetal pyelectasis A bilateral form of fetal pyelectasis. hp0009lx5z Bilateral fetal pyelectasia|Bilateral foetal pyelectasia|Bilateral foetal pyelectasis peter 2011-06-19T10:00:34Z UMLS:C4023523 human_phenotype owl:Class HP:0010945 biolink:NamedThing Fetal pyelectasis Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. hp0009lx5z Foetal renal pelvic dilatation|Fetal renal pelvic dilatation|Foetal pyelectasis|Mild foetal hydronephrosis|Mild fetal hydronephrosis The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargement of the renal pelvis from 4 to 10 millimeters. In many cases, fetal pyelectasis resolves spontaneously. Note that dilatation of the renal pelvis to more than 10 mm is referred to as severe pyelectasis or hydronephrosis. Measurements less than 5mm are normal, should not be designated as pyelectasis, and should not be reported (PMID:16100637). peter 2011-01-16T03:36:31Z MSH:D058536|SNOMEDCT_US:430035004|UMLS:C2317073 human_phenotype owl:Class HP:0040010 biolink:NamedThing Small posterior fossa hp0009lx5z HPO:skoehler UMLS:C4022496 owl:Class HP:0004897 biolink:NamedThing Stress/infection-induced lactic acidosis A form of lactic acidemia that occurs in relation to stress or infection. hp0009lx5z Metabolic crises during febrile infections UMLS:C4025278 owl:Class HP:0100541 biolink:NamedThing Femoral hernia A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. hp0009lx5z Crural hernia Femoral hernias are a relatively uncommon type, accounting for only 3% of all hernias. Femoral hernia appears as a bulge in the upper thigh. doelkens 2010-12-20T06:16:40Z SNOMEDCT_US:50063009|MSH:D006550|UMLS:C0019288|MEDDRA:10016434 human_phenotype owl:Class HP:0002943 biolink:NamedThing Thoracic scoliosis hp0009lx5z HP:0004615 UMLS:C1857790 human_phenotype owl:Class HP:0032420 biolink:NamedThing Increased HDL2a concentration An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. hp0009lx5z 2019-03-02 13:40:40+00:00 peter owl:Class HP:0002254 biolink:NamedThing Intermittent diarrhea Repeated episodes of diarrhea separated by periods without diarrhea. hp0009lx5z Episodic diarrhoea|Episodic diarrhea|Intermittent diarrhoea UMLS:C0239181 owl:Class HP:0011214 biolink:NamedThing EEG with photoparoxysmal response grade IV Occurrence of generalized epileptiform discharges during photic stimulation. hp0009lx5z peter 2011-11-19T01:01:38Z UMLS:C4023461 human_phenotype owl:Class HP:0008963 biolink:NamedThing Tibialis muscle weakness Muscle weakness affecting the tibialis anterior muscle. hp0009lx5z This is a bundled term which should be made obsolete. UMLS:C4024612 human_phenotype owl:Class HP:0011396 biolink:NamedThing Abnormality of the cochlear nerve hp0009lx5z hecht 2012-03-09T05:39:04Z UMLS:C4023377 human_phenotype owl:Class HP:0011391 biolink:NamedThing Morphological abnormality of the nerves of the inner ear hp0009lx5z hecht 2012-03-09T05:03:30Z UMLS:C4023380 human_phenotype owl:Class HP:0006959 biolink:NamedThing Proximal spinal muscular atrophy Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. hp0009lx5z UMLS:C4024957 human_phenotype owl:Class HP:0025413 biolink:NamedThing Fossa navicularis urethral stricture A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis. hp0009lx5z 2017-04-23 11:16:18+00:00 The fossa navicularis is the small normal dilatation of the distal penile urethra. HPO:probinson owl:Class HP:0007766 biolink:NamedThing Optic disc hypoplasia Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. hp0009lx5z Hypoplastic optic disks|Hypoplastic optic discs HP:0007794|HP:0007890 UMLS:C1298695|SNOMEDCT_US:373650004 human_phenotype owl:Class HP:0100171 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 4th toe hp0009lx5z Cone-shaped end part of the outermost bone of the 4th toe doelkens 2010-06-24T04:53:36Z UMLS:C4022250 human_phenotype owl:Class HP:0005725 biolink:NamedThing Nonopposable triphalangeal thumb A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand. hp0009lx5z MSH:C536562|UMLS:C2931238 human_phenotype owl:Class HP:0033444 biolink:NamedThing Elevated circulating dodecanoylcarnitine concentration Increased concentration of dodecanoylcarnitine in the blood circulation. hp0009lx5z Elevated circulating O-dodecanoylcarnitine concentration|Elevated plasma dodecanoylcarnitine, C12:0 2021-01-09 18:51:51+00:00 peter owl:Class HP:0005249 biolink:NamedThing Functional intestinal obstruction hp0009lx5z UMLS:C3639956 human_phenotype owl:Class HP:0006889 biolink:NamedThing Intellectual disability, borderline Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. hp0009lx5z Intellectual disability, borderline|Mental retardation, borderline We choose to define the concept of borderline intellectual disability onthe basis of the commonly used range of 70-85 (IQ), but note that in DSM-5, IQ boundaries are no longer part of the classification. SNOMEDCT_US:77287004|UMLS:C0006009 human_phenotype owl:Class HP:0100449 biolink:NamedThing Curved distal phalanx of the 3rd toe A deviation from the normal straight form of the distal phalanx of the third toe. hp0009lx5z Curved outermost bone of the 3rd toe UMLS:C4022078 human_phenotype owl:Class HP:0500063 biolink:NamedThing Retinopathy of prematurity pre-plus As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal. hp0009lx5z ROP pre-plus 2018-02-19 20:18:12+00:00 Over time, the vessel abnormalities of pre-plus may progress to frank plus disease as the vessels dilate and become more tortuous. ORCID:0000-0001-7941-2961 owl:Class HP:0012781 biolink:NamedThing Mid-frequency hearing loss A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz). hp0009lx5z peter 2014-04-08T11:04:07Z UMLS:C4022723 human_phenotype owl:Class HP:0000454 biolink:NamedThing Flared nostrils hp0009lx5z Flared nasal alae|Flared nostrils SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873 human_phenotype owl:Class HP:0006655 biolink:NamedThing Rib segmentation abnormalities hp0009lx5z UMLS:C1968999 human_phenotype owl:Class HP:0030436 biolink:NamedThing Fibrofolliculoma Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. hp0009lx5z Fibrofolliculomas SNOMEDCT_US:128683008|UMLS:C0346011|SNOMEDCT_US:254699007 owl:Class HP:0032203 biolink:NamedThing Lymphoid nodular hyperplasia Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236). hp0009lx5z Lymphonodular hyperplasia of the colon 2019-01-20 14:41:25+00:00 The presence of LNH in the mucosa of the colon and/or terminal ileum is a frequent finding (30%) in children undergoing colonoscopy. Unless associated with other endoscopic lesions, LNH is mostly related to a condition of delayed-type food hypersensitivity and affects mainly preschool or school-age children with hematochezia. peter owl:Class HP:0100232 biolink:NamedThing Small epiphysis of the proximal phalanx of the 5th toe hp0009lx5z Small end part of the innermost bone of the pinky toe|Small end part of the innermost bone of the pinkie toe|Small end part of the innermost bone of the little toe doelkens 2010-06-24T05:04:53Z UMLS:C4022189 human_phenotype owl:Class HP:0100297 biolink:NamedThing Increased endomysial connective tissue An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. hp0009lx5z doelkens 2010-08-10T02:06:32Z UMLS:C4022161 owl:Class HP:0010806 biolink:NamedThing U-Shaped upper lip vermilion Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. hp0009lx5z Fish mouth|Wide, carp-shaped mouth|Carp-like mouth|Carp-shaped mouth|Large, carp-shaped mouth The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms). peter 2010-06-26T03:25:01Z HP:0000186 UMLS:C1856202 human_phenotype owl:Class HP:0007552 biolink:NamedThing Abnormal subcutaneous fat tissue distribution hp0009lx5z Abnormal fat tissue distribution below the skin UMLS:C1859347 human_phenotype owl:Class HP:0011749 biolink:NamedThing Adrenocorticotropic hormone excess Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. hp0009lx5z ACTH excess This term refers to increased production of ACTH. If additionally hypercorticolism is present, this should be coded separated with HP:0011744. peter 2012-04-22T01:09:54Z UMLS:C4021124 human_phenotype owl:Class HP:0001919 biolink:NamedThing Acute kidney injury Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). hp0009lx5z Acute renal failure|Acute kidney failure Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. SNOMEDCT_US:14669001|MSH:D058186|SNOMEDCT_US:14350001000004108|UMLS:C2609414|UMLS:C0022660 human_phenotype owl:Class HP:0032178 biolink:NamedThing Flaky paint dermatosis A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001). hp0009lx5z Flaky paint skin appearance 2019-01-06 13:46:09+00:00 Flaky paint dermatosis is a cutaneous manifestations of kwashiorkor. peter owl:Class HP:0003495 biolink:NamedThing GM2-ganglioside accumulation Cellular accumulation of GM2 gangliosides. hp0009lx5z Gangliosides are the main glycolipids of neuronal cell plasma membranes which ensure normal cellular activities. GM2-gangliosidosis can be caused by mutations in three genes: HEXA, HEXB, and GM2A. In patients with HexA deficiency GM2 ganglioside accumulates inside lysosomes, which form characteristic inclusions within the cells, so called membranous cytoplasmic bodies, which are enlarged lysosomes filled with gangliosides. The highest concentration of GM2 ganglioside is found in neuronal cells, therefore, the HexA deficiency primarily affects the nervous system, causing mental and motor developmental delay in patients. Later, progressive destruction of neurons, proliferation of microglia and accumulation of complex lipids in macrophages are observed in the brain tissue. UMLS:C1848920 owl:Class HP:0012667 biolink:NamedThing Regional left ventricular wall motion abnormality An abnormal motion of a segment of the left ventricle during the cardiac cycle. hp0009lx5z This feature can be appreciated using color kinesis, which tracks the motion of the endocardium in real time throughout systole and results in color-encoded images reflecting the magnitude and timing of endocardial motion. peter 2014-02-15T01:12:48Z UMLS:C4022789 human_phenotype owl:Class HP:0033008 biolink:NamedThing Increased Z-disc width Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005). hp0009lx5z Widened z-discs|Increased Z-disk width The sarcomere is the basic contractile unit of striated muscle, and is composed of highly ordered thin (actin) filaments and thick (myosin) filaments. The cytoskeleton surrounding this elegant contractile molecular machinery is required as a scaffold to ensure efficiency of contraction. Longitudinally, sarcomeres are connected by Z-disk lattices that anchor thin filaments and transmit force along the myofibril. The strikingly regular lateral alignment of Z-disks between adjacent myofibrils ensures that during contraction myofibrils change length in unison, thus preventing damage to membrane systems that span between myofibrils and that are responsible for activating and relaxing the sarcomeres (T-tubules, sarcoplasmic reticulum). peter owl:Class HP:0007020 biolink:NamedThing Progressive spastic paraplegia hp0009lx5z HP:0006875|HP:0007255 UMLS:C1855483 human_phenotype owl:Class HP:0009077 biolink:NamedThing Weakness of long finger extensor muscles hp0009lx5z UMLS:C4024601 human_phenotype owl:Class HP:0100789 biolink:NamedThing Torus palatinus A bony protrusion present on the midline of the hard palate. hp0009lx5z Palatal torus|Palatal tori|Maxillary torus|Prominent midpalatal ridge|Palate exostoses doelkens 2011-06-08T02:28:48Z SNOMEDCT_US:697945009|SNOMEDCT_US:46752004|UMLS:C0447996|UMLS:C1840236|UMLS:C0266981|SNOMEDCT_US:244683008 human_phenotype owl:Class HP:0500217 biolink:NamedThing Increased CSF aspartate concentration Abnormally increased levels of aspartic acid in cerebrospinal fluid. hp0009lx5z Increased CSF aspartic acid concentration|High aspartic acid levels in cerebrospinal fluid 2019-02-25 19:32:03+00:00 owl:Class HP:0003277 biolink:NamedThing Constricted iliac wing hp0009lx5z Constricted iliac wings UMLS:C1854785 owl:Class HP:0005879 biolink:NamedThing Congenital finger flexion contractures Multiple bent (flexed) finger joints that cannot be straightened actively or passively. hp0009lx5z Congenital finger contractures UMLS:C1393871 human_phenotype owl:Class HP:0033891 biolink:NamedThing Renal arteriolar lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp0009lx5z Cholesterol emboli within the arteriolar lumen 2021-06-23 22:11:23+00:00 peter owl:Class HP:0005045 biolink:NamedThing Diaphyseal cortical sclerosis An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. hp0009lx5z UMLS:C1833739 human_phenotype owl:Class HP:0005494 biolink:NamedThing Premature posterior fontanelle closure hp0009lx5z UMLS:C1839126 human_phenotype owl:Class HP:0008756 biolink:NamedThing Bowing of the vocal cords Bowing (abnormal curvature) of the vocal folds. hp0009lx5z UMLS:C0396064|SNOMEDCT_US:232448002 human_phenotype owl:Class HP:0033466 biolink:NamedThing Weak grip Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand. hp0009lx5z 2021-01-09 22:40:44+00:00 peter owl:Class HP:0012708 biolink:NamedThing Reduced brain N-acetyl aspartate level by MRS A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy N-Acetyl Aspartate (NAA) is an amino acid found exclusively in neurons. It is regarded as a non-specific marker and is thought to be involved in Coenzyme A interactions and lipogenesis within the brain. It is a marker of neuronal viability. Normal NAA concentration is in the range of 8-9 mmol/kg in healthy adult brain. Concentrations are decreased in conditions leading to axonal injury or neuronal loss. NAA is also decreased in other conditions such as neoplasm, infarction, and inflammatory conditions such as multiple sclerosis. NAA peak is seen at 2.0 ppm (parts per million) on MR spectra. peter 2014-03-22T08:09:12Z UMLS:C4022761 human_phenotype owl:Class HP:0001341 biolink:NamedThing Olfactory lobe agenesis hp0009lx5z Olfactory lobe absence UMLS:C1855331 human_phenotype owl:Class HP:0012820 biolink:NamedThing Bilateral vocal cord paralysis A loss of the ability to move the vocal fold on both sides. hp0009lx5z hecht 2014-05-28T09:22:32Z UMLS:C2146481 human_phenotype owl:Class HP:0001605 biolink:NamedThing Vocal cord paralysis A loss of the ability to move the vocal folds. hp0009lx5z Inability to move vocal cords|Laryngeal paralysis Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. HP:0001606|HP:0006847 UMLS:C0042928|MSH:D014826|SNOMEDCT_US:302912005|UMLS:C1854345 human_phenotype owl:Class HP:0010963 biolink:NamedThing Absence of stomach bubble on fetal sonography By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. hp0009lx5z Absence of stomach bubble on foetal sonography The absence of stomach bubble on fetal sonography can be an indication of malformations such as esophageal atresia, especially in combination with polyhydramnios. peter 2011-01-18T12:45:41Z UMLS:C4023625 human_phenotype owl:Class HP:0030719 biolink:NamedThing Unguarded tricuspid valve A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue. hp0009lx5z Rudimentary tricuspid valve leaflets|Unguarded tricuspid valve orifice UMLS:C0344745|SNOMEDCT_US:253381001 owl:Class HP:0011662 biolink:NamedThing Tricuspid atresia Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. hp0009lx5z Tricuspid valve atresia peter 2012-04-09T10:45:29Z SNOMEDCT_US:63042009|ICD-10:Q22.4|SNOMEDCT_US:253455004|MSH:D018785|Fyler:400|UMLS:C0243002|EPCC:06.01.01|Fyler:0400 human_phenotype owl:Class HP:0010983 biolink:NamedThing Oligogenic inheritance A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform. hp0009lx5z peter 2011-02-08T10:13:16Z MSH:D020412|UMLS:C1136026 human_phenotype owl:Class HP:0041085 biolink:NamedThing Compression-fractured vertebra A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. hp0009lx5z Wedge fractured vertebra|Compression fractured vertebra owl:Class HP:0045051 biolink:NamedThing Decreased DLCO Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. hp0009lx5z Decreased diffusing capacity DLCO is decreased in any condition which affects the effective alveolar surface area UMLS:C4073175 owl:Class HP:0045049 biolink:NamedThing Abnormal DLCO An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs. hp0009lx5z Abnormal TLCO|Abnormal transfer factor of the lung for carbon monoxide|Abnormal diffusing capacity Inhaled CO is used for this test due to its high affinity for hemoglobin (200-250 times that of oxygen). During a ten-second breath-hold, DLCO measures uptake of CO per unit time per mm of driving pressure of CO (cc of CO/sec/mm of Hg). UMLS:C4073173 owl:Class HP:0011383 biolink:NamedThing Enlarged semicircular canal Increased size of the semicircular canal. hp0009lx5z Dilated semicircular canal peter 2012-03-09T07:16:58Z UMLS:C4021156 human_phenotype owl:Class HP:0100562 biolink:NamedThing Diplomyelia Duplication of the spinal cord. hp0009lx5z Duplication of spinal cord doelkens 2010-12-21T04:35:22Z SNOMEDCT_US:360527003|UMLS:C1260890 human_phenotype owl:Class HP:0006566 biolink:NamedThing Neonatal cholestatic liver disease hp0009lx5z UMLS:C1859162 human_phenotype owl:Class HP:0100951 biolink:NamedThing Enlarged fossa interpeduncularis hp0009lx5z Enlarged basal cistern|Enlarged interpeduncular cistern doelkens 2011-12-02T04:45:02Z HP:0002420 UMLS:C4020922 human_phenotype owl:Class HP:0002483 biolink:NamedThing Bulbar signs hp0009lx5z UMLS:C1856507 human_phenotype owl:Class HP:0008134 biolink:NamedThing Irregular tarsal ossification Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. hp0009lx5z Irregular ankle bone maturation|Irregular tarsal centers|Irregular tarsal centres HP:0008140 UMLS:C4280415|UMLS:C4021554 human_phenotype owl:Class HP:0003102 biolink:NamedThing Increased carrying angle An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. hp0009lx5z Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis. UMLS:C1855478 human_phenotype owl:Class HP:0033635 biolink:NamedThing Post-capillary pulmonary hypertension Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). hp0009lx5z Postcapillary pulmonary hypertension 2021-02-01 13:21:16+00:00 Post-capillary hypertension resulting from left heart disease causes backpressure and increases the hydrostatic pressure in the pulmonary veins which eventually results in increased pressure in pulmonary arteries. peter owl:Class HP:0031905 biolink:NamedThing Increased total hemolytic complement activity An abnormally elevated total hemolytic complement activity in the circulation. hp0009lx5z 2018-05-19 15:27:17+00:00 peter owl:Class HP:0031904 biolink:NamedThing Abnormal total hemolytic complement activity Any deviation from the normal total hemolytic complement activity in the circulation. hp0009lx5z Abnormal CH50 2018-05-19 15:22:54+00:00 The total hemolytic complement test, also known as the CH50, is a screening test for total complement activity. peter owl:Class HP:0007732 biolink:NamedThing Lacrimal gland hypoplasia Underdevelopment of the lacrimal gland. hp0009lx5z Underdeveloped tear gland|Hypoplastic lacrimal gland UMLS:C1863200 human_phenotype owl:Class HP:0008038 biolink:NamedThing Aplastic/hypoplastic lacrimal glands Absence or underdevelopment of the lacrimal gland. hp0009lx5z Absent/underdeveloped tear glands|Absent/underdeveloped lacrimal glands UMLS:C1835602 human_phenotype owl:Class HP:0100695 biolink:NamedThing Lipedema Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise . hp0009lx5z The pattern of fat deposition is most often bilateral, symmetrical and usually from the waist to a distinct line just above the ankles. doelkens 2011-03-28T04:43:32Z MSH:D065134|UMLS:C0398370|SNOMEDCT_US:234102003 human_phenotype owl:Class HP:0100172 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 4th toe hp0009lx5z Enlarged end part of the outermost bone of the 4th toe doelkens 2010-06-24T04:53:36Z UMLS:C4022249 human_phenotype owl:Class HP:0033692 biolink:NamedThing Declarative memory loss Impaired ability to remember facts and events. hp0009lx5z Impaired declarative memory 2021-03-07 22:56:17+00:00 peter owl:Class HP:0007039 biolink:NamedThing Symmetric lesions of the basal ganglia hp0009lx5z UMLS:C4024947 human_phenotype owl:Class HP:0005067 biolink:NamedThing Proximal fibular overgrowth Overgrowth of the proximal part of the fibula. hp0009lx5z Overgrowth of innermost part of calf bone UMLS:C2673395 human_phenotype owl:Class HP:0100566 biolink:NamedThing Amyelia Congenital absence of the spinal cord. hp0009lx5z Absent spinal cord doelkens 2010-12-21T04:41:35Z SNOMEDCT_US:78784005|UMLS:C0266510 human_phenotype owl:Class HP:0031423 biolink:NamedThing Small cerebellar cortex Reduced size of the cerebellar cortex. hp0009lx5z 2017-09-16 11:14:43+00:00 peter owl:Class HP:0011788 biolink:NamedThing Increased circulating free T3 An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. hp0009lx5z Increased serum free triiodothyronine|Increased circulating free triiodothyronine|Increased serum free T3|Increased serum fT3 peter 2012-04-22T06:31:08Z UMLS:C4021843 owl:Class HP:0012755 biolink:NamedThing Enlarged brainstem Abnormal increase in size of the brainstem. hp0009lx5z An enlarged brainstem may be observed with diffuse infiltrating tumor, PNET (primitive neuroectodermal tumor), ganglionoma, hamartoma, vascular malformation, or inflammatory process. peter 2014-03-30T07:23:06Z UMLS:C4022741 human_phenotype owl:Class HP:0003297 biolink:NamedThing Hyperlysinuria An increased concentration of lysine in the urine. hp0009lx5z High urine lysine levels|Lysinuria Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours. HP:0002158 UMLS:C4021733 human_phenotype owl:Class HP:0025113 biolink:NamedThing Misophonia An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound. hp0009lx5z 2016-11-01 01:33:52+00:00 HPO:probinson owl:Class HP:0009371 biolink:NamedThing Type A1 brachydactyly hp0009lx5z doelkens 2009-01-13T10:50:19Z UMLS:C1862151|MSH:C537088|SNOMEDCT_US:715720006 human_phenotype owl:Class HP:0001468 biolink:NamedThing Aplasia/Hypoplasia involving the musculature of the upper arm Absence or underdevelopment of the muscles of the upper arm. hp0009lx5z Absent/underdeveloped upper arm muscles|Absent/small upper arm muscles peter 2008-04-07T10:52:00Z UMLS:C4025769 human_phenotype owl:Class HP:0002868 biolink:NamedThing Narrow iliac wing Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). hp0009lx5z Narrow iliac wings UMLS:C1836688 owl:Class HP:0010636 biolink:NamedThing Schizencephaly The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. hp0009lx5z peter 2009-12-06T08:05:54Z SNOMEDCT_US:38353004|MSH:D065707|UMLS:C0266484|SNOMEDCT_US:253159001 human_phenotype owl:Class HP:0030796 biolink:NamedThing Increased C-peptide level An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. hp0009lx5z Increased C peptide level C-peptide, which is composed of 31 amino acids, is released from the pancreatic beta-cells following cleavage of insulin from proinsulin. C-peptide levels are generally measured after an overnight fast. UMLS:C4280763 owl:Class HP:0031769 biolink:NamedThing Peripheral fixation Fixation of an object in a peripheral area of the retina. hp0009lx5z 2018-01-21 14:55:27+00:00 peter owl:Class HP:0030263 biolink:NamedThing Torsion of the penis Rotated position of the glans, with or without the penile shaft, of 30 degrees or more. hp0009lx5z Penile torsion is defined traditionally as being between 30 and 180 degrees rotation. Penile torsion is usually counter clockwise and is often associated with Chordee and Hypospadias, which should be coded separately. UMLS:C1407019 owl:Class HP:0030560 biolink:NamedThing Best corrected visual acuity 0.6 LogMAR hp0009lx5z UMLS:C4073033 owl:Class HP:0031708 biolink:NamedThing Compensatory face turn to the left A tendency to turn the face to the left to compensate for a limitation of eye movement. hp0009lx5z 2017-12-18 00:30:18+00:00 With a sixth cranial nerve palsy there is a weakened lateral rectus muscule and the affected patient will often turn the head towards the affected eye. peter owl:Class HP:0008376 biolink:NamedThing Nasal, dysarthic speech hp0009lx5z Breathy speech UMLS:C1834664 human_phenotype owl:Class HP:0000346 biolink:NamedThing Whistling appearance An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. hp0009lx5z Whistling facial appearance|Whistling appearance UMLS:C1848473 human_phenotype owl:Class HP:0007057 biolink:NamedThing Poor hand-eye coordination hp0009lx5z UMLS:C1845864 human_phenotype owl:Class HP:0040175 biolink:NamedThing Platelet-activating factor acetylhydrolase deficiency Reduced level of platelet-activating factor acetylhydrolase. hp0009lx5z MSH:C566640|UMLS:C3280315 owl:Class HP:0010608 biolink:NamedThing Hordeolum internum Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling. hp0009lx5z Red bump on inner eyelid|Stye of inner eyelid sandra1 2009-10-27T11:33:25Z UMLS:C4280375|UMLS:C0085690|SNOMEDCT_US:414521009 human_phenotype owl:Class HP:3000031 biolink:NamedThing Abnormality of anterior ethmoidal artery An abnormality of an anterior ethmoidal artery. hp0009lx5z vasilevs 2015-08-07T00:27:12Z UMLS:C4073287 human_phenotype owl:Class HP:4000012 biolink:NamedThing Necrotizing ileitis hp0009lx5z 2021-05-02 13:10:00+00:00 robinp owl:Class HP:0007123 biolink:NamedThing Subcortical dementia A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. hp0009lx5z UMLS:C4024935 owl:Class HP:0032110 biolink:NamedThing Severely reduced contrast sensitivity A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss. hp0009lx5z 2018-11-17 14:20:27+00:00 peter owl:Class HP:0025174 biolink:NamedThing Irregular septal thickening on pulmonary HRCT Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture. hp0009lx5z 2016-12-04 19:31:03+00:00 HPO:probinson owl:Class HP:0012121 biolink:NamedThing Panuveitis Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid. hp0009lx5z hecht 2012-09-16T06:23:34Z UMLS:C0030343|SNOMEDCT_US:75614007|MSH:D015864 human_phenotype owl:Class HP:0033508 biolink:NamedThing EBV meningitis Inflammation of the meninges related to infection by Epstein-Barr virus. hp0009lx5z Epstein-Barr virus meningitis 2021-01-10 17:16:45+00:00 peter owl:Class HP:0002507 biolink:NamedThing Semilobar holoprosencephaly A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. hp0009lx5z UMLS:C0751617|MSH:D016142|SNOMEDCT_US:253138008 human_phenotype owl:Class HP:0005203 biolink:NamedThing Spontaneous esophageal perforation The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. hp0009lx5z Spontaneous esophageal rupture|Boerhaave syndrome Esophageal perforation can lead to retained gastric contents, saliva, bile, and other substances entering the mediastinum, resulting in mediastinitis, which in turn may lead to sepsis. HP:0005251 UMLS:C0238115|SNOMEDCT_US:19995004|MSH:C536571 human_phenotype owl:Class HP:0010879 biolink:NamedThing Postnatal cystic hygroma hp0009lx5z peter 2010-09-13T08:08:47Z UMLS:C4023677 human_phenotype owl:Class HP:0025080 biolink:NamedThing Orthokeratotic hyperkeratosis A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei. hp0009lx5z 2016-10-12 23:40:17+00:00 Hyperkeratosis is most commonly orthokeratotic. HPO:probinson owl:Class HP:0033104 biolink:NamedThing Inappropriate absence of fever Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response. hp0009lx5z 2020-08-29 13:06:30+00:00 The induction and maintenance of fever during infection involves the tightly coordinated interplay between the innate immune system and neuronal circuitry within the central and peripheral nervous systems. Some diseases (such as Hyper-IgE recurrent infection syndrome 5, autosomal recessive, which is due to IL6R mutation) are associated with a lack of clinically adequate inflammatory response in the face of marked infection. peter owl:Class HP:0032497 biolink:NamedThing Reduced terminal:vellus ratio A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia. hp0009lx5z 2019-04-12 11:38:06+00:00 An decreased proportion of terminal hairs compared to vellus hairs. peter owl:Class HP:0006659 biolink:NamedThing Internally rotated shoulders hp0009lx5z Internally rotated shoulders UMLS:C1862491 owl:Class HP:0012170 biolink:NamedThing Nail-biting Habitual biting of one's own fingernails. hp0009lx5z Nail-biting|Onychophagy|Onychophagia peter 2013-02-20T09:40:31Z UMLS:C0027338|ICD-10:F98.8|MSH:D009259|SNOMEDCT_US:37298006 human_phenotype owl:Class HP:0045061 biolink:NamedThing Decreased carnitine level in liver hp0009lx5z UMLS:C4073182 owl:Class HP:0012275 biolink:NamedThing Autosomal dominant inheritance with maternal imprinting A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. hp0009lx5z Since the maternally inherited copy of such genes is silenced normally, only a paternally transmitted mutation leads to disease in this kind of inheritance. peter 2013-04-07T02:54:09Z UMLS:C4022975 human_phenotype owl:Class HP:0410071 biolink:NamedThing Increased level of ribitol in CSF An increase in the level of ribitol in the cerebral spinal fluid. hp0009lx5z Increased level of ribitol in cerebrospinal fluid 2018-01-29 22:59:19+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0025502 biolink:NamedThing Overweight Increased body weight with a body mass index of 25-29.9 kg per square meter. hp0009lx5z 2017-05-14 20:12:36+00:00 HPO:probinson owl:Class HP:0012829 biolink:NamedThing Profound Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. hp0009lx5z Profound peter 2014-06-06T07:05:46Z SNOMEDCT_US:795002|UMLS:C0439808 human_phenotype owl:Class HP:0200058 biolink:NamedThing Angiosarcoma hp0009lx5z sebastiankohler SNOMEDCT_US:33176006|MSH:D006394|UMLS:C0018923|SNOMEDCT_US:403977003|SNOMEDCT_US:39000009 human_phenotype owl:Class HP:0003440 biolink:NamedThing Horizontal sacrum hp0009lx5z UMLS:C1850558 human_phenotype owl:Class HP:0500197 biolink:NamedThing Increased CSF glutamine concentration Abnormally increased levels of glutamine in cerebrospinal fluid. hp0009lx5z High glutamine levels in cerebrospinal fluid 2019-02-25 16:43:02+00:00 owl:Class HP:0033898 biolink:NamedThing Arcuate artery intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. hp0009lx5z Intraluminal thrombi within arcuate arterial lumen 2021-06-23 22:25:15+00:00 peter owl:Class HP:0007534 biolink:NamedThing Congenital posterior occipital alopecia Loss of hair in the occipital region of the scalp with congenital onset. hp0009lx5z UMLS:C4024850 human_phenotype owl:Class HP:0004974 biolink:NamedThing Coarctation of abdominal aorta Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta. hp0009lx5z UMLS:C4025263 human_phenotype owl:Class HP:0030198 biolink:NamedThing Fatigable weakness of distal limb muscles A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. hp0009lx5z UMLS:C4022585 owl:Class HP:0000134 biolink:NamedThing Female hypogonadism Decreased functionality of the female gonads, i.e., of the ovary. hp0009lx5z Hypogonadism, female SNOMEDCT_US:16041008|UMLS:C0271578 human_phenotype owl:Class HP:0009775 biolink:NamedThing Amniotic constriction ring Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. hp0009lx5z Pseudoainhum|Amniotic bands|Amniotic constriction band Pseudoainhum is a rare condition of unknown etiology that produces digital constricting rings, most commonly on the small fingers. doelkens 2009-02-02T05:36:41Z HP:0001078 SNOMEDCT_US:19988008|MSH:D000652|MSH:C535821|UMLS:C1527388|UMLS:C0334166|SNOMEDCT_US:238879003 human_phenotype owl:Class HP:0002162 biolink:NamedThing Low posterior hairline Hair on the neck extends more inferiorly than usual. hp0009lx5z Low posterior hair line|Low hairline at back of neck This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. UMLS:C1855728 owl:Class HP:0001518 biolink:NamedThing Small for gestational age Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. hp0009lx5z Low birth weight|Birth weight less than 10th percentile|Small for gestational age HP:0008849|HP:0001422|HP:0008919|HP:0008927 UMLS:C0024032|MSH:D007230|UMLS:C0235991|SNOMEDCT_US:267258002|SNOMEDCT_US:276610007 human_phenotype owl:Class HP:0100127 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 2nd toe hp0009lx5z Irregular end part of the innermost bone of the 2nd toe doelkens 2010-06-24T10:06:29Z UMLS:C4022294 human_phenotype owl:Class HP:0006167 biolink:NamedThing Prominent proximal interphalangeal joints hp0009lx5z Prominent innermost hinge joints UMLS:C4025085 human_phenotype owl:Class HP:0032530 biolink:NamedThing Decreased succinic semialdehyde dehydrogenase level Reduced level of succinic semialdehyde dehydrogenase (SSADH). hp0009lx5z 2019-05-27 12:55:45+00:00 Succinic semialdehyde dehydrogenase catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). peter owl:Class HP:0410053 biolink:NamedThing Increased level of GABA in serum An increase in the level of GABA in the serum. hp0009lx5z Increased level of gamma-aminobutyric acid in serum 2018-01-27 01:56:05+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0007602 biolink:NamedThing Complex palmar dermatoglyphic pattern hp0009lx5z UMLS:C4024835 human_phenotype owl:Class HP:0025434 biolink:NamedThing Reduced hemolytic complement activity A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. hp0009lx5z Reduced CH50 2017-04-23 16:53:06+00:00 Individual complement components can be quantified however this does not provide any information as to the activity of the pathway. The CH50 is a screening assay for the activation of the classical complement pathway and it is sensitive to the reduction, absence and/or inactivity of any component of the pathway. The CH50 tests the functional capability of serum complement components of the classical pathway to lyse sheep red blood cells (SRBC) pre-coated with rabbit anti-sheep red blood cell antibody (haemolysin). When antibody-coated SRBC are incubated with test serum, the classical pathway of complement is activated and haemolysis results. If a complement component is absent, the CH50 level will be zero; if one or more components of the classical pathway are decreased, the CH50 will be decreased. HPO:probinson owl:Class HP:0025098 biolink:NamedThing Dysgenesis of the hypothalamus Structural abnormality of the hypothalamus related to defective development. hp0009lx5z Hypothalamic dysgenesis 2016-10-28 06:41:35+00:00 Note that the term hypothalamic dysgenesis is generally used to refer to a morphological abnormality of the hypothalamus that is of presumed developmental (rather than acquired) origin. HPO:probinson owl:Class HP:0002050 biolink:NamedThing Macroorchidism, postpubertal hp0009lx5z UMLS:C1839782 human_phenotype owl:Class HP:0011739 biolink:NamedThing Dexamethasone-suppressible primary hyperaldosteronism A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone. hp0009lx5z Familial primary hyperaldosteronism type 1|Glucocorticoid-remediable familial primary aldosteronism peter 2012-04-21T09:27:36Z UMLS:C4023209|UMLS:C4020743|UMLS:C4020744 human_phenotype owl:Class HP:0011736 biolink:NamedThing Primary hyperaldosteronism A form of hyperaldosteronism caused by a defect within the adrenal gland. hp0009lx5z peter 2012-04-21T09:26:05Z SNOMEDCT_US:258117004|SNOMEDCT_US:190507007|UMLS:C1384514|MSH:D006929 human_phenotype owl:Class HP:0004001 biolink:NamedThing Medially deficient radial epiphyses hp0009lx5z UMLS:C4025456 human_phenotype owl:Class HP:0031710 biolink:NamedThing Compensatory head tilt to the left shoulder A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement. hp0009lx5z 2017-12-18 00:33:44+00:00 With fourth cranial nerve palsy leading to weakness of the superior oblique muscle, affected persons tilt the head away from the affected eye as both eyes are most straight in this position. peter owl:Class HP:0006524 biolink:NamedThing Tracheobronchial leiomyomatosis hp0009lx5z UMLS:C3806786 human_phenotype owl:Class HP:0008830 biolink:NamedThing Hypoplastic pubic rami hp0009lx5z UMLS:C1969176 human_phenotype owl:Class HP:0041084 biolink:NamedThing Compression-fractured thoracic vertebra A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. hp0009lx5z Compression fractured thoracic vertebra|Wedge fractured thoracic vertebra owl:Class HP:0033705 biolink:NamedThing Tearfulness A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control. hp0009lx5z 2021-03-12 13:20:59+00:00 peter owl:Class HP:0012268 biolink:NamedThing Myxoid liposarcoma A liposarcoma that contains myxomatous tissue. hp0009lx5z peter 2013-04-07T01:59:19Z MSH:D018208|SNOMEDCT_US:404069006|UMLS:C0206634|SNOMEDCT_US:27849002 human_phenotype owl:Class HP:0031363 biolink:NamedThing Palpable purpura A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation). hp0009lx5z 2017-08-29 12:31:01+00:00 peter owl:Class HP:0000979 biolink:NamedThing Purpura Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. hp0009lx5z Blood spots|Red or purple spots on the skin Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). SNOMEDCT_US:387778001|UMLS:C0034150|SNOMEDCT_US:423902002|MSH:D011693|SNOMEDCT_US:12393003 human_phenotype owl:Class HP:0001407 biolink:NamedThing Hepatic cysts hp0009lx5z Liver cysts SNOMEDCT_US:85057007|UMLS:C0267834 human_phenotype owl:Class HP:0009430 biolink:NamedThing Broad middle phalanx of the 3rd finger Increased width of the middle phalanx of the 3rd finger. hp0009lx5z Broad middle bone of middle finger|Wide/broad middle phalanx of middle-finger doelkens 2009-01-14T03:41:31Z HP:0004178 UMLS:C4021476 human_phenotype owl:Class HP:0001427 biolink:NamedThing Mitochondrial inheritance A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). hp0009lx5z Mitochondrial HP:0001458|HP:0001431|HP:0001506 UMLS:C0887941|MSH:D050259 human_phenotype owl:Class HP:0031174 biolink:NamedThing Double-layered patella An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. hp0009lx5z 2017-06-18 20:08:32+00:00 This feature can be observed in Multiple epiphyseal dysplasia type 4. It is distinct from bipartite patella, which is characterized by an unfused accessory ossification center at the superolateral aspect of the patella. Double layer patella appears to be caused by the presence of several patellar ossification centers. peter owl:Class HP:0007047 biolink:NamedThing Atrophy of the dentate nucleus Partial or complete wasting (loss) of dentate nucleus. hp0009lx5z UMLS:C1857788 human_phenotype owl:Class HP:0003909 biolink:NamedThing Cortical subperiosteal resorption of humeral metaphyses hp0009lx5z UMLS:C4025515 human_phenotype owl:Class HP:0009934 biolink:NamedThing Supernumerary naris The presence of more than two nostrils. hp0009lx5z Extra nostril|Accessory nostril|Supernumerary nostrils|Accessory nares|Supernumerary nares peter 2009-05-10T10:37:41Z UMLS:C4021372 human_phenotype owl:Class HP:0005534 biolink:NamedThing Transient myeloproliferative syndrome A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts. hp0009lx5z Transient leukemia of Down syndrome|TMD|Transient myeloproliferative disorder|Transient leukaemia of Down syndrome MSH:C563551|SNOMEDCT_US:450934005|UMLS:C1834582 human_phenotype owl:Class HP:0010952 biolink:NamedThing Mild fetal ventriculomegaly A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637). hp0009lx5z Mild foetal ventriculomegaly A ventricular atrial diameter of more than 10 mm at 20-24 weeks of gestation has been accepted as defining ventriculomegaly because it represents at least 3 standard deviations above the mean (which is roughly 5 mm at 20-24 weeks of gestation). If the diameter is above 15 mm, the ventriculomegaly is considered to be severe. Amongst the most common causes of ventriculomegaly are impaired absorption of CSF, developmental cerebral defects, and destroyed brain tissue. peter 2011-01-17T01:36:57Z UMLS:C4023628 owl:Class HP:0033268 biolink:NamedThing Deflation of the glomerular tuft Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. hp0009lx5z 2020-11-28 16:01:47+00:00 peter owl:Class HP:0006603 biolink:NamedThing Flared, irregular rib ends hp0009lx5z Flared, irregular rib ends UMLS:C1865833 human_phenotype owl:Class HP:0410261 biolink:NamedThing Wide space between 4th and 5th toe A widely spaced gap between the fourth toe and the fifth (pinky) toe. hp0009lx5z Wide space between the 4th and 5th toe 2018-10-19 22:00:03+00:00 owl:Class HP:0020062 biolink:NamedThing Decreased hemoglobin concentration An abnormal reduction below normal hemoglobin concentration in the circulation. hp0009lx5z Decreased haemoglobin concentration|Decreased Hb concentration 2018-09-28 23:53:11+00:00 robinp owl:Class HP:0020061 biolink:NamedThing Abnormal hemoglobin concentration Any deviation from the normal concentration of hemoglobin in the blood. hp0009lx5z Abnormal Hb concentration|Abnormal haemoglobin concentration 2018-09-28 23:52:35+00:00 robinp owl:Class HP:0031358 biolink:NamedThing Vegetative state Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities). hp0009lx5z 2017-08-27 15:49:29+00:00 peter owl:Class HP:0033219 biolink:NamedThing Glomerular hyalinosis away from the vascular and tubular poles Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. hp0009lx5z 2020-10-24 12:22:00+00:00 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. peter owl:Class HP:0033050 biolink:NamedThing Pharyngalgia An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat. hp0009lx5z Pharyngodynia|Throat discomfort|Throat pain|Sore throat peter owl:Class HP:0030527 biolink:NamedThing Very severe constriction of peripheral visual field Peripheral visual field constriction with <10 degrees central field preserved. hp0009lx5z Very severe peripheral visual field loss UMLS:C4073004 owl:Class HP:0410204 biolink:NamedThing Increased intestinal transit time An increase in the length of time required for food to pass through the intestines. hp0009lx5z 2018-08-15 02:19:44+00:00 owl:Class HP:0041172 biolink:NamedThing Fractured fused sacrum A partial or complete breakage of the fused sacrum. hp0009lx5z bone fused sacrum owl:Class HP:0031163 biolink:NamedThing Low femoral bone density Reduced bone mineral density of the femur. hp0009lx5z Low femur bone density 2017-06-18 17:59:29+00:00 Osteopenia is defined as BMD between 1 standard deviation (SD) and 2.5 SD below the mean of the young reference group. Osteoporosis is defined as BMD 2.5 SD or more below the mean of the young reference group. peter owl:Class HP:0030494 biolink:NamedThing Macular microaneurysm/hemorrhage Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms). hp0009lx5z UMLS:C4072982 owl:Class HP:0004941 biolink:NamedThing Extrahepatic portal hypertension Increased pressure in the pre-hepatic portal vein. hp0009lx5z Hypertension in the portal venous tree proper. previous def: 'has part' some ('increased pressure' and ('inheres in' some ('arterial blood' and ('part of' some 'Pre-hepatic portal vein (adult human)'))) and ('has modifier' some abnormal)) UMLS:C4025268 human_phenotype owl:Class HP:0031249 biolink:NamedThing Parageusia A distortion of the sense of taste, often characterized by the sensation of a metallic taste. hp0009lx5z Metallic taste in mouth|Dysgeusia|Metallic taste|Altered sense of taste 2017-08-12 13:35:52+00:00 peter owl:Class HP:0000963 biolink:NamedThing Thin skin Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. hp0009lx5z Thin skin HP:0001020 UMLS:C0423757|SNOMEDCT_US:277797007 human_phenotype owl:Class HP:0003761 biolink:NamedThing Calcinosis Formation of calcium deposits in any soft tissue. hp0009lx5z Calcium buildup in soft tissues of body SNOMEDCT_US:6595006|UMLS:C0006663|MSH:D002114 human_phenotype owl:Class HP:0008497 biolink:NamedThing Congenital craniofacial dysostosis hp0009lx5z UMLS:C4024667 human_phenotype owl:Class HP:0005707 biolink:NamedThing Bilateral triphalangeal thumbs A bilateral form of triphalangeal thumb. hp0009lx5z Bilateral digitalized thumb UMLS:C4021627 human_phenotype owl:Class HP:0031643 biolink:NamedThing Fusiform ascending tubular aorta aneurysm An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall. hp0009lx5z 2017-12-17 14:02:25+00:00 peter owl:Class HP:0008659 biolink:NamedThing Multiple small medullary renal cysts The presence of many cysts in the medulla of the kidney. hp0009lx5z Medullary cystic disease|Medullary sponge kidney disease This feature is the cardinal sign of medullary cystic disease, also known as medullary sponge disease. HP:0100956|HP:0005569 SNOMEDCT_US:204958008|UMLS:C4020790|UMLS:C4024644|UMLS:C0687120 human_phenotype owl:Class HP:0006216 biolink:NamedThing Single interphalangeal crease of fifth finger Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. hp0009lx5z Fifth finger single interphalangeal crease HP:0006245 UMLS:C1850336 human_phenotype owl:Class HP:0002038 biolink:NamedThing Protein avoidance hp0009lx5z UMLS:C1839531 human_phenotype owl:Class HP:0003647 biolink:NamedThing Electron transfer flavoprotein-ubiquinone oxidoreductase defect A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase. hp0009lx5z UMLS:C4025586 human_phenotype owl:Class HP:0011247 biolink:NamedThing Prominent superior crus of antihelix Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem. hp0009lx5z Hypertrophic superior crus of antihelix|Hyperplastic superior crus of antihelix This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. peter 2011-12-18T12:02:57Z UMLS:C4021188 human_phenotype owl:Class HP:0032537 biolink:NamedThing Delayed fracture healing A delay in healing of a fracture past the expected duration. hp0009lx5z 2019-05-27 13:23:40+00:00 Initially, after injury a hematoma forms and this is followed by inflammatory cells arriving at the fracture site to debride the wound. During the soft callus phase of healing a collar of bone forms at the periosteum adjacent to the fractured bone, and cells in the periosteum proliferate and differentiate into chondrocytes that form cartilage that bridges the fracture gap. During the hard callus phase, the cartilage is replaced by bone through endochondral ossification, possibly by transformation of some of the chondrocytes into osteoblasts. Finally, through remodeling, newly formed bone is restored to its pre-injured state. Depending on the site of the fracture, healing usually takes from 3 to 12 weeks in healthy adults. peter owl:Class HP:0008125 biolink:NamedThing Second metatarsal posteriorly placed hp0009lx5z UMLS:C1859224 human_phenotype owl:Class HP:0011249 biolink:NamedThing Absent antitragus Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. hp0009lx5z The size of the antitragus is highly variable. peter 2011-12-18T12:13:00Z UMLS:C4023443 human_phenotype owl:Class HP:0003741 biolink:NamedThing Congenital muscular dystrophy hp0009lx5z Muscular dystrophy, congenital HP:0003793 SNOMEDCT_US:240059009|UMLS:C0699743 human_phenotype owl:Class HP:0012381 biolink:NamedThing Delayed self-feeding during toddler years A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age). hp0009lx5z peter 2013-10-16T11:46:54Z UMLS:C4022920 human_phenotype owl:Class HP:0030465 biolink:NamedThing Undetectable light-adapted electroretinogram No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. hp0009lx5z Absent photopic (cone) responses on ERG|non-detectable photopic ERG UMLS:C4072955 owl:Class HP:0001700 biolink:NamedThing Myocardial necrosis Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). hp0009lx5z SNOMEDCT_US:251061000|UMLS:C1442837 human_phenotype owl:Class HP:0032001 biolink:NamedThing Pink urine An abnormal pink color of urine. hp0009lx5z 2018-07-15 21:57:17+00:00 Pink urine color may indicate blood or be a consequence of the ingestion of certain food such as beets, blackberries and rhubarb. peter owl:Class HP:0012459 biolink:NamedThing Hypnic headache A headache disorder that occurs exclusively at night, waking the affected individual from sleep. hp0009lx5z Alarm clock headache Hypnic headache can be unilateral or bilateral, and is often but not always described as throbbing. The pain begins abruptly and can last from 15 minutes to 6 hours, although typically it is about 30-60 minutes. peter 2013-11-24T11:20:18Z UMLS:C0752150|SNOMEDCT_US:122711000119109|MSH:D051270 human_phenotype owl:Class HP:0040020 biolink:NamedThing Radial deviation of the 5th finger hp0009lx5z HPO:skoehler UMLS:C4022487 owl:Class HP:0032777 biolink:NamedThing Focal impaired awareness autonomic seizure with pallor/flushing A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0000447 biolink:NamedThing Pear-shaped nose hp0009lx5z Pear-shaped nose UMLS:C1853482 human_phenotype owl:Class HP:0410275 biolink:NamedThing Lumbosacral hemangioma A spinal cord hemangioma located in the lumbosacral spine region. hp0009lx5z Lumbar/sacral hemangioma 2018-10-30 02:21:55+00:00 owl:Class HP:0012801 biolink:NamedThing Narrow jaw Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). hp0009lx5z Narrow jaw|Narrow lower jaw|Narrow mandible|Narrow lower face|Thin lower jaw|Thin lower face The width of the jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. hecht 2014-05-25T02:37:13Z UMLS:C4280310|UMLS:C4021066 human_phenotype owl:Class HP:0004291 biolink:NamedThing Stippled calcification of hand bones hp0009lx5z UMLS:C4025365 human_phenotype owl:Class HP:0003533 biolink:NamedThing Reduced acetaldehyde dehydrogenase level Decreased level of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism. hp0009lx5z Delayed oxidation of acetaldehyde In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase. UMLS:C4025601 human_phenotype owl:Class HP:0025563 biolink:NamedThing Anterior chamber cells grade 0 Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. hp0009lx5z 2017-12-14 13:19:21+00:00 HPO:probinson owl:Class HP:0020050 biolink:NamedThing Anti-granulocyte-macrophage colony stimulating factor antibody positivity The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor. hp0009lx5z Anti-GM-CSF antibody positivity 2017-12-22 15:05:06+00:00 Anti-granulocyte macrophage-colony stimulating factor (GM-CSF) autoantibodies have been shown to cause acquired pulmonary alveolar proteinosis (PAP)(1, 2), a chronic lung disease characterized by abnormalities of surfactant metabolism. robinp owl:Class HP:0006590 biolink:NamedThing Premature sternal synostosis Prematurely closed sternal sutures. hp0009lx5z Prematurely closed sternal sutures UMLS:C4021590 human_phenotype owl:Class HP:0031786 biolink:NamedThing Cogan lid twitch Transient eyelid retraction during refixation from down to straight ahead. hp0009lx5z Lid twitch|Cogan eyelid twitch|Eyelid twitch 2018-01-28 12:52:25+00:00 peter owl:Class HP:0006224 biolink:NamedThing Tapering pointed ends of distal finger phalanges A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms). hp0009lx5z UMLS:C4025078 human_phenotype owl:Class HP:0003431 biolink:NamedThing Decreased motor nerve conduction velocity A type of decreased nerve conduction velocity that affects the motor neuron. hp0009lx5z Reduced motor nerve conduction velocity|Decreased motor NCV|Decreased motor nerve conduction velocities Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers. HP:0003379|HP:0008170|HP:0003437|HP:0006907|HP:0000760|HP:0003395 UMLS:C1858729 human_phenotype owl:Class HP:0000762 biolink:NamedThing Decreased nerve conduction velocity A reduction in the speed at which electrical signals propagate along the axon of a neuron. hp0009lx5z Slow nerve conduction velocity|Decreased nerve conduction velocities|Delayed nerve conduction velocity|Slowed nerve conduction velocities|Decreased NCV|Reduced nerve conduction velocities Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. HP:0000761|HP:0007118|HP:0007231|HP:0007218 UMLS:C1857640 human_phenotype owl:Class HP:0031429 biolink:NamedThing Decreased circulating osteocalcin level A reduced level of osteocalcin in the blood. hp0009lx5z 2017-09-16 11:33:11+00:00 peter owl:Class HP:0000716 biolink:NamedThing Depression Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior. hp0009lx5z Depression|Depressive disorder|Depressivity UMLS:C0011581|SNOMEDCT_US:35489007|MSH:D003866|SNOMEDCT_US:21061000119107|SNOMEDCT_US:78667006 owl:Class HP:0025140 biolink:NamedThing Decreased serum estrone A reduction below normal limits of the concentration of estrone in the circulation. hp0009lx5z 2016-11-27 14:15:48+00:00 HPO:probinson owl:Class HP:0033676 biolink:NamedThing Posttraumatic stress symptom A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating). hp0009lx5z PTSD 2021-03-02 00:54:28+00:00 This term is intended to be used if no additional information is available. If possible, more specific terms should be used. peter owl:Class HP:0031670 biolink:NamedThing Continuous heart murmur A murmur that occurs in both systole and diastole. hp0009lx5z 2017-12-17 16:23:25+00:00 Continuous murmurs are related to pressure gradients that persist across systole and diastole. A classic example is the murmur related to patent ductus arteriosus. peter owl:Class HP:0030597 biolink:NamedThing Abnormal Humphrey SITA 24-2 perimetry test hp0009lx5z UMLS:C4073069 owl:Class HP:0032657 biolink:NamedThing Elevated circulating lyso-globotriaosylsphingosine concentration An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation. hp0009lx5z Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A that affects males and shows disease expression in heterozygotes. Lysosomal accumulation of its substrate globotriaosylceramide (Gb3) that is prominent in endothelial cells is thought to cause the progressive renal insufficiency, cardiac involvement, and CNS pathology in Fabry patients. Plasma Lyso-Gb3 is considered to be a biomarker for Fabry disease. peter owl:Class HP:0500037 biolink:NamedThing Nasolacrimal sac epithelial papillary carcinoma The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac. hp0009lx5z 2018-01-31 17:14:14+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0006978 biolink:NamedThing Dysmyelinating leukodystrophy hp0009lx5z UMLS:C3278204 human_phenotype owl:Class HP:0002682 biolink:NamedThing Broad skull Increased width of the skull. hp0009lx5z Wide cranium|Broad skull|Increased width of skull|Increased width of cranium|Wide skull|Broad cranium UMLS:C0424693|SNOMEDCT_US:248374004 human_phenotype owl:Class HP:0032620 biolink:NamedThing Intrarenal abscess An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. hp0009lx5z Renal parenchymal abcess|Renal abscess Most renal abscesses are caused by gram-negative bacteria and are commonly caused by ascending infection associated with urologic abnormality, obstruction or calculi. peter owl:Class HP:0011970 biolink:NamedThing Cerebral amyloid angiopathy Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. hp0009lx5z Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Extracellular deposition of the amyloid protein in the brain is associated with neurologic and physiological disease progression. peter 2012-07-18T08:39:48Z UMLS:C0085220|SNOMEDCT_US:230724001|MSH:D016657 human_phenotype owl:Class HP:0012317 biolink:NamedThing Sacroiliac arthritis Inflammation of the sacroiliac joint, generally accompanied by lower back pain. hp0009lx5z Sacroiliitis peter 2013-08-10T12:58:43Z UMLS:C0748473|MSH:C563037 human_phenotype owl:Class HP:0011284 biolink:NamedThing Short-segment aganglionic megacolon A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid. hp0009lx5z peter 2012-01-01T02:59:57Z UMLS:C4023431 human_phenotype owl:Class HP:0040097 biolink:NamedThing Neoplasm of the ceruminal gland A tumor (abnormal growth of tissue) of the ceruminal gland. hp0009lx5z Adenoma of the ceruminous gland|Ceruminous adenoma|Ceruminoma HPO:skoehler SNOMEDCT_US:403945001|NCIT:C3262|UMLS:C0334352|SNOMEDCT_US:52707009 owl:Class HP:0032401 biolink:NamedThing Aspartic aciduria A increased concentration of aspartic acid in the urine. hp0009lx5z 2019-02-24 17:47:28+00:00 peter owl:Class HP:0031906 biolink:NamedThing Decreased total hemolytic complement activity An abnormally reduced total hemolytic complement activity in the circulation. hp0009lx5z 2018-05-19 15:27:49+00:00 peter owl:Class HP:3000055 biolink:NamedThing Abnormality of inferior alveolar nerve An abnormality of an inferior alveolar nerve. hp0009lx5z vasilevs 2015-08-07T01:10:08Z UMLS:C4073263 human_phenotype owl:Class HP:0030748 biolink:NamedThing Grade I preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove. hp0009lx5z Germinal matrix haemorrhage|Grade I preterm intraventricular haemorrhage|Germinal matrix hemorrhage SNOMEDCT_US:276650005|UMLS:C0475737 owl:Class HP:0004870 biolink:NamedThing Chronic hemolytic anemia An chronic form of hemolytic anemia. hp0009lx5z Chronic hemolytic anaemia|hemolytic anemia, chronic HP:0004815 SNOMEDCT_US:707480001|UMLS:C1387532 human_phenotype owl:Class HP:0025607 biolink:NamedThing Upper eyelid entropion An inward turning (inversion) of the margin of the upper eyelid. hp0009lx5z 2018-01-13 22:44:13+00:00 HPO:probinson owl:Class HP:0010687 biolink:NamedThing Low intestinal alkaline phosphatase An abnormally reduced level of alkaline phosphatase, intestinal type in the blood. hp0009lx5z Low intestinal ALP doelkens 2010-03-05T11:13:10Z UMLS:C4023738 human_phenotype owl:Class HP:0001820 biolink:NamedThing Leukonychia White discoloration of the nails. hp0009lx5z White discoloration of nails MEDDRA:10050658|UMLS:C0240182|SNOMEDCT_US:111202002 human_phenotype owl:Class HP:0007902 biolink:NamedThing Vitreous hemorrhage Bleeding within the vitreous compartment of the eye. hp0009lx5z Vitreous haemorrhage The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others. MSH:D014823|UMLS:C0042909|SNOMEDCT_US:31341008 human_phenotype owl:Class HP:0002236 biolink:NamedThing Frontal upsweep of hair Upward and/or sideward growth of anterior hair. hp0009lx5z Frontal upsweep of hair|Cowlick|Upswept frontal hair pattern|Upswept frontal hair|Upswept frontal hairline|Frontal Cowlick UMLS:C3275754|UMLS:C1185616|UMLS:C2675540 human_phenotype owl:Class HP:0012835 biolink:NamedThing Left Being located on the left side of the body. hp0009lx5z Left-sided peter 2014-06-06T07:23:17Z UMLS:C0443246|SNOMEDCT_US:263795004 human_phenotype owl:Class HP:0500027 biolink:NamedThing Aplastic colon Congenital absence of the colon hp0009lx5z Aplasia of the colon|Absence of the colon 2017-05-29 17:10:13+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0003707 biolink:NamedThing Calf muscle pseudohypertrophy Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. hp0009lx5z Pseudohypertrophy of the calves Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions. UMLS:C1839666 human_phenotype owl:Class HP:0004026 biolink:NamedThing Broad radial metaphysis Increase in width (breadth) of the radial metaphysis. hp0009lx5z Wide radial metaphysis UMLS:C4021691 human_phenotype owl:Class HP:0041146 biolink:NamedThing Fractured coccyx A partial or complete breakage of the coccyx. hp0009lx5z bone coccyx owl:Class HP:0030153 biolink:NamedThing Cholangiocarcinoma Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension. hp0009lx5z Bile duct cancer UMLS:C0206698|MSH:D018281|SNOMEDCT_US:70179006|NCIT:C3262|SNOMEDCT_US:312104005 owl:Class HP:0010144 biolink:NamedThing Ivory epiphysis of the distal phalanx of the hallux hp0009lx5z Increased bone density of end part of the outermost bone of the big toe doelkens 2009-05-29T01:22:47Z UMLS:C4024015 human_phenotype owl:Class HP:0031317 biolink:NamedThing Fatty replacement of ventricular myocardial tissue Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue. hp0009lx5z Intramyocardial fat infiltration|Fatty infiltration of cardiac ventricle 2017-08-27 11:45:49+00:00 peter owl:Class HP:0008757 biolink:NamedThing Unilateral vocal cord paralysis A loss of the ability to move the vocal fold on one side. hp0009lx5z Unilateral paralysis of the vocal cord MSH:D014826|UMLS:C0751575 human_phenotype owl:Class HP:0011882 biolink:NamedThing Decreased platelet P2Y12 receptor Decreased cell membrane concentration of P2Y12 receptor. hp0009lx5z The P2Y12 receptor is activated by ADP and plays a central role in platelet activation. peter 2012-06-02T09:18:58Z UMLS:C4023147 human_phenotype owl:Class HP:0006385 biolink:NamedThing Short lower limbs Shortening of the legs related to developmental hypoplasia of the bones of the leg. hp0009lx5z Short lower limbs|Short legs HP:0003054 UMLS:C0426901|SNOMEDCT_US:249786007 human_phenotype owl:Class HP:0031575 biolink:NamedThing Tessier number 3 facial cleft As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced. hp0009lx5z 2017-10-14 12:38:50+00:00 peter owl:Class HP:5000030 biolink:NamedThing Anti-Ri antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody. hp0009lx5z Anti-ANNA-2 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0033178 biolink:NamedThing Increased circulating interleukin 8 An increased concentration of interleukin-8 in the circulation. hp0009lx5z Increased serum interleukin 8|Increased serum IL-8|Increased serum interleukin-8 2020-09-28 22:05:51+00:00 IL-8 is a chemokine that acts as a chemotactic factor secreted by activated monocytes and macrophages that promotes the directional migration of neutrophils, basophils, and T lymphocytes. peter owl:Class HP:0410012 biolink:NamedThing Abnormal mouth floor morphology Any abnormality of the mouth floor. hp0009lx5z Abnormality of the floor of mouth|Abnormality of the mouth floor UMLS:C4073191 owl:Class HP:0010638 biolink:NamedThing Elevated alkaline phosphatase of hepatic origin An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. hp0009lx5z Elevated ALP of hepatic origin doelkens 2009-12-11T03:47:19Z UMLS:C4023764 owl:Class HP:0033592 biolink:NamedThing Anti-H3-H4 antibody positivity The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer. hp0009lx5z 2021-01-28 02:13:35+00:00 peter owl:Class HP:0007943 biolink:NamedThing Congenital stapes ankylosis A form of stapes ankylosis with congenital onset. hp0009lx5z UMLS:C1866657 human_phenotype owl:Class HP:0040244 biolink:NamedThing Prolonged Russell's viper venom time Increased time to coagulation in the Russell's viper venom assay hp0009lx5z This term has been requested and created by members of the BRIDGE consortium UMLS:C4280704 owl:Class HP:0006725 biolink:NamedThing Pancreatic adenocarcinoma The presence of an adenocarcinoma of the pancreas. hp0009lx5z UMLS:C0281361|NCIT:C2852|SNOMEDCT_US:700423003 human_phenotype owl:Class HP:0032518 biolink:NamedThing Disseminated dermatophytosis A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs. hp0009lx5z 2019-05-26 10:37:28+00:00 Disseminated dermatophytosis tends to occur in patients with both defi cient T cell-mediated immunity and an impaired infl ammatory response. This process occurs either by direct extension, draining lymphatics, or hematogenous spread. It can present with involvement of distant skin areas, lymph nodes, bone, muscle, liver, spleen, testes or the central nervous system. Ultimately, disseminated infection can result in bacterial superinfection, osteomyelitis, organ dysfunction and eventual death. peter owl:Class HP:0012723 biolink:NamedThing Sinoatrial block Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. hp0009lx5z Sinoatrial block is characterized by a delayed in heartbeat and pauses between P waves as demonstrated by electrocardiography. peter 2014-03-23T01:34:01Z Fyler:7014|MSH:D012848|SNOMEDCT_US:65778007|UMLS:C0037188 human_phenotype owl:Class HP:0011250 biolink:NamedThing Bifid antitragus Double rather than single peak of the antitragus. hp0009lx5z Double antitragus peter 2011-12-18T12:14:26Z UMLS:C4021187 human_phenotype owl:Class HP:0007387 biolink:NamedThing Hypoplastic sweat glands Underdevelopment of the sweat glands. hp0009lx5z Underdeveloped sweat glands UMLS:C1832455 human_phenotype owl:Class HP:0033445 biolink:NamedThing Reduced circulating acylcarnitine concentration An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. hp0009lx5z 2021-01-09 18:53:21+00:00 peter owl:Class HP:0012428 biolink:NamedThing Prominent calcaneus Protruding heel bone, or calcaneus. hp0009lx5z Prominent heel bone peter 2013-11-12T11:04:49Z UMLS:C4021088 human_phenotype owl:Class HP:0020114 biolink:NamedThing Persistent human papillomavirus infection Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease. hp0009lx5z 2019-04-08 20:54:37+00:00 robinp owl:Class HP:0009932 biolink:NamedThing Single naris The presence of only a single nostril. hp0009lx5z Single nare|Single nostril|Mono nostril|One nostril The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified. peter 2009-05-10T10:33:56Z SNOMEDCT_US:95266003|UMLS:C0685682 human_phenotype owl:Class HP:0002729 biolink:NamedThing Follicular hyperplasia Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. hp0009lx5z Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one (See Gaddey HL et al. Unexplained Lymphadenopathy: Evaluation and Differential Diagnosis. Am Fam Physician. 2016 1;94:896-903 and Weiss LM. et al. Benign lymphadenopathies. Mod Pathol. 2013;26 Suppl 1:S88-96). UMLS:C4014733 human_phenotype owl:Class HP:0032358 biolink:NamedThing Decreased post-bronchodilator forced expiratory volume in one second An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication. hp0009lx5z Decreased postbronchodilator forced expiratory volume in one second|Decreased post bronchodilator forced expiratory volume in one second 2019-02-23 17:09:37+00:00 peter owl:Class HP:0100109 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe. hp0009lx5z Speckled calcifications in the end part of the outermost bone of the 2nd toe doelkens 2010-06-24T10:04:20Z UMLS:C4022312 human_phenotype owl:Class HP:0010626 biolink:NamedThing Anterior pituitary agenesis Absence of the anterior pituitary gland resulting from a developmental defect. hp0009lx5z Aplasia of the pituitary gland|Absent pituitary gland peter 2009-12-05T03:04:20Z UMLS:C4021249 human_phenotype owl:Class HP:0007182 biolink:NamedThing Peripheral hypomyelination Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. hp0009lx5z This finding can be demonstrated by nerve biopsy. HP:0007160|HP:0007012|HP:0007226 UMLS:C4024927 human_phenotype owl:Class HP:0025627 biolink:NamedThing Increased circulating octadecanoate level An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). hp0009lx5z 2019-04-09 00:28:58+00:00 HPO:probinson owl:Class HP:0100316 biolink:NamedThing Hirano bodies Intracellular aggregates of actin and actin-associated proteins within nerve cells. hp0009lx5z doelkens 2010-08-10T03:32:38Z UMLS:C0521178|SNOMEDCT_US:57458003 human_phenotype owl:Class HP:0032301 biolink:NamedThing Genital warts Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress. hp0009lx5z 2019-02-12 23:10:40+00:00 Genital warts are the clinical manifestations of a sexually transmitted disease caused by some types of human papillomavirus (HPV). peter owl:Class HP:0410194 biolink:NamedThing Increased uridine diphosphate glucose-4-epimerase level in plasma An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp0009lx5z Increased UDP-glucose 4-epimerase level in plasma 2018-05-21 18:23:47+00:00 owl:Class HP:0011812 biolink:NamedThing Agraphesthesia Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination). hp0009lx5z peter 2012-04-28T02:56:29Z UMLS:C1328618 human_phenotype owl:Class HP:0020201 biolink:NamedThing Abnormal sarcomere morphology Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. hp0009lx5z robinp 2019-12-23 15:56:20+00:00 owl:Class HP:0001293 biolink:NamedThing Cranial nerve compression hp0009lx5z UMLS:C0521670|SNOMEDCT_US:95664006 human_phenotype owl:Class HP:0007052 biolink:NamedThing Multifocal cerebral white matter abnormalities hp0009lx5z ORCID:0000-0002-5316-1399 UMLS:C1833434 human_phenotype owl:Class HP:0001611 biolink:NamedThing Nasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech. hp0009lx5z Hypernasal speech|Hypernasal voice|Nasal speech|Nasal voice May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy. HP:0001614 UMLS:C0566620|SNOMEDCT_US:289190003|UMLS:C0454555|SNOMEDCT_US:229645001 owl:Class HP:0012328 biolink:NamedThing Cementoma An odontogenic tumor of the cementum of tooth. hp0009lx5z peter 2013-08-12T08:55:10Z SNOMEDCT_US:23255001|MSH:D002485|UMLS:C0007659|SNOMEDCT_US:37258009 human_phenotype owl:Class HP:0012839 biolink:NamedThing Distal Localized away from the central point of the body. hp0009lx5z Outermost peter 2014-06-06T07:29:38Z UMLS:C0205108|SNOMEDCT_US:46053002 human_phenotype owl:Class HP:0031415 biolink:NamedThing High serum calcitriol An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. hp0009lx5z Increased serum calcitriol|High serum 1,25-dihydroxyvitamin D3|Increased serum 1,25-dihydroxyvitamin D3|High serum 1,25-dihydroxycholecalciferol 2017-09-12 01:53:03+00:00 peter HP:0003152 UMLS:C1833331 owl:Class HP:0002089 biolink:NamedThing Pulmonary hypoplasia hp0009lx5z Hypoplastic lung|Poorly developed lungs|Hypoplastic lungs|Lung hypoplasia|Small lung|Underdeveloped lung SNOMEDCT_US:80825009|UMLS:C0265783 owl:Class HP:0025471 biolink:NamedThing Congenital panfollicular nevus A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation. hp0009lx5z 2017-05-14 11:57:54+00:00 HPO:probinson owl:Class HP:0030108 biolink:NamedThing Reduced muscle fiber gamma sarcoglycan Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy. hp0009lx5z Reduced muscle fibre gamma sarcoglycan UMLS:C4022637 owl:Class HP:0410203 biolink:NamedThing Positive gastric fluid barbiturate test Detection of barbiturate metabolites such as phenobarbital in the gastric fluid. hp0009lx5z 2018-07-20 23:04:36+00:00 owl:Class HP:0025464 biolink:NamedThing Increased reactive oxygen species production An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage. hp0009lx5z Increased ROS production|Oxidative stress 2017-05-07 11:19:52+00:00 HPO:probinson owl:Class HP:0003784 biolink:NamedThing Type 1 collagen overmodification hp0009lx5z UMLS:C1970463 human_phenotype owl:Class HP:0007293 biolink:NamedThing Anterior sacral meningocele hp0009lx5z UMLS:C1867776 human_phenotype owl:Class HP:0010399 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 2nd toe hp0009lx5z doelkens 2009-07-16T11:58:15Z UMLS:C4023855 human_phenotype owl:Class HP:0031810 biolink:NamedThing Anti-ganglioside antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides. hp0009lx5z 2018-04-28 14:42:59+00:00 peter owl:Class HP:0031945 biolink:NamedThing Elevated N,N-dimethylglycine level An increased concentration of N,N-dimethylglycine in the circulation. hp0009lx5z 2018-07-06 11:54:09+00:00 An important metabolic pathway for choline involves its conversion into glycine via betaine aldehyde, betaine, N,N-dimethylglycine (DMG),1 and sarcosine. DMG is converted into sarcosine and sarcosine is converted into glycine by two oxidative demethylation steps mediated by DMG dehydrogenase (DMGDH; EC 1.5.99.2) and sarcosine dehydrogenase (EC 1.5.99.1), respectively. An increased concentration of DMG of DMG can caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH), which normally catalyzes the conversion of DMG into sarcosine as well as the conversion of sarcosine into glycine. peter owl:Class HP:0033673 biolink:NamedThing Positive Phalen test The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger). hp0009lx5z Phalen maneuver|Phalen manoeuvre 2021-02-28 15:04:14+00:00 See Figure 2 of PMID:31773104. peter owl:Class HP:0200059 biolink:NamedThing Metastatic angiosarcoma hp0009lx5z sebastiankohler UMLS:C0854892 human_phenotype owl:Class HP:3000017 biolink:NamedThing Abnormality of temporalis muscle An abnormality of a temporalis muscle. hp0009lx5z vasilevs 2015-02-26T03:59:01Z UMLS:C4073226 human_phenotype owl:Class HP:0033506 biolink:NamedThing Increased esterified to free carnitine ratio An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. hp0009lx5z 2021-01-10 15:13:06+00:00 peter owl:Class HP:0002740 biolink:NamedThing Recurrent E. coli infections Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent. hp0009lx5z E coli infections|E coli infections, recurrent SNOMEDCT_US:71057007|MSH:D004927|UMLS:C0014836 human_phenotype owl:Class HP:0032959 biolink:NamedThing Intratubular calcium oxalate casts Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. hp0009lx5z peter owl:Class HP:0003614 biolink:NamedThing Trimethylaminuria Increased concentration of trimethylamine in the urine. hp0009lx5z High urine trimethylamine levels Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide. UMLS:C0342739|MSH:C536561|SNOMEDCT_US:237959005 human_phenotype owl:Class HP:0012826 biolink:NamedThing Moderate Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. hp0009lx5z PATO:0000395, moderate. peter 2014-06-06T06:48:12Z SNOMEDCT_US:446421000124109|SNOMEDCT_US:6736007|UMLS:C0205081 human_phenotype owl:Class HP:0031355 biolink:NamedThing Maintenance insomnia Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep. hp0009lx5z Waking up several times during the night 2017-08-27 15:04:00+00:00 peter owl:Class HP:0012120 biolink:NamedThing Methylmalonic aciduria Increased concentration of methylmalonic acid in the urine. hp0009lx5z High blood methylmalonic acid levels|Methymalonicaciduria Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. hecht 2012-09-16T06:02:23Z UMLS:C1855119|MSH:C537358 human_phenotype owl:Class HP:0012424 biolink:NamedThing Chorioretinitis An inflammation of the choroid and retina. hp0009lx5z Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. peter 2013-11-11T08:10:29Z MSH:D002825|SNOMEDCT_US:46627006|UMLS:C0008513 human_phenotype owl:Class HP:0031365 biolink:NamedThing Macular purpura Purpura that is flat (non-palpable, not raised). hp0009lx5z Flat purpura 2017-08-29 12:35:34+00:00 peter owl:Class HP:0030671 biolink:NamedThing Abnormal common tendinous ring morphology Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles. hp0009lx5z Abnormality of the common tendinous ring ORCID:0000-0003-0986-4123 UMLS:C4073122 owl:Class HP:0008425 biolink:NamedThing Cuboid-shaped thoracolumbar vertebral bodies hp0009lx5z UMLS:C1855289 human_phenotype owl:Class HP:0004634 biolink:NamedThing Cuboid-shaped vertebral bodies hp0009lx5z Cuboid vertebral bodies UMLS:C2673653 human_phenotype owl:Class HP:0006236 biolink:NamedThing Slender metacarpals Decreased width of the metacarpal bones (that is, reduced diameter). hp0009lx5z Slender long bones of hand UMLS:C4025077 human_phenotype owl:Class HP:0040295 biolink:NamedThing Duplication of the upper lip hp0009lx5z Double upper lip owl:Class HP:0033731 biolink:NamedThing Focal lupus nephritis A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations hp0009lx5z Class III lupus nephritis 2021-04-16 13:45:49+00:00 peter owl:Class HP:0031717 biolink:NamedThing Alternating exotropia A type of exotropia in which either eye may be used for fixation. hp0009lx5z Alternating strabismus 2018-01-13 13:33:37+00:00 peter owl:Class HP:0032423 biolink:NamedThing Decreased HDL2b concentration A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. hp0009lx5z 2019-03-02 13:46:25+00:00 peter owl:Class HP:0030578 biolink:NamedThing Pinhole visual acuity 1.0 LogMAR hp0009lx5z UMLS:C4073051 owl:Class HP:0011234 biolink:NamedThing Absent antihelix No discernible ridge between concha and triangular fossa and helix. hp0009lx5z This finding is common in a protruding and cupped ear, where the superior and inferior parts of the antihelix are often absent. This is distinct from partial absence of the antihelix as may occur in, for example, underdeveloped inferior crus of the antihelix. peter 2011-12-15T07:09:03Z UMLS:C4023448 human_phenotype owl:Class HP:0002895 biolink:NamedThing Papillary thyroid carcinoma The presence of a papillary adenocarcinoma of the thyroid gland. hp0009lx5z Papillary carcinoma of thyroid|Thyroid papillary carcinoma MSH:C536915|UMLS:C0238463|SNOMEDCT_US:255029007|NCIT:C2853 human_phenotype owl:Class HP:0008596 biolink:NamedThing Postlingual sensorineural hearing impairment A form of sensorineural hearing impairment with onset after the acquisition of speech. hp0009lx5z UMLS:C4024654 human_phenotype owl:Class HP:0012382 biolink:NamedThing Left-to-right shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. hp0009lx5z peter 2013-10-16T11:54:21Z UMLS:C0428870|SNOMEDCT_US:66130006 human_phenotype owl:Class HP:0100131 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe. hp0009lx5z Speckled calcifications in the end part of the innermost bone of the 2nd toe doelkens 2010-06-24T10:06:29Z UMLS:C4022290 human_phenotype owl:Class HP:0000225 biolink:NamedThing Gingival bleeding Hemorrhage affecting the gingiva. hp0009lx5z Gingival haemorrhage|Gingival hemorrhage|Gingivorrhagia|Bleeding gums HP:0000167 SNOMEDCT_US:86276007|MSH:D005884|UMLS:C0017565 human_phenotype owl:Class HP:0003885 biolink:NamedThing Undermodeled humerus hp0009lx5z UMLS:C4025529 owl:Class HP:0033058 biolink:NamedThing Decreased serum complement C7 A reduced level of the complement component C7 in the blood circulation. hp0009lx5z The complement component C7 is one of the five plasma proteins that interact sequentially to form the lytic membrane attack complex. peter owl:Class HP:0002487 biolink:NamedThing Hyperkinetic movements Motor hyperactivity with excessive movement of muscles of the body as a whole. hp0009lx5z Muscle spasms|Hyperkinesis|Hyperkinesia UMLS:C0037763|SNOMEDCT_US:44548000|UMLS:C0424295|MSH:D006948|SNOMEDCT_US:45352006|MSH:D013035 human_phenotype owl:Class HP:0033074 biolink:NamedThing Steroid-responsive anemia Amelioration of anemia upon treatment with a steroid medication. hp0009lx5z Steroid-responsive anaemia|Prednisone-responsive anemia|Prednisone-responsive anaemia peter owl:Class HP:0030426 biolink:NamedThing Ossifying fibroma A benign central bone tumor composed of fibrous connective tissue within which bone is formed. hp0009lx5z UMLS:C0206640|SNOMEDCT_US:302862001|MSH:D018214|SNOMEDCT_US:25603007|SNOMEDCT_US:80699009|SNOMEDCT_US:302863006 owl:Class HP:0032997 biolink:NamedThing Decreased cystatin C level A decreased concentration of cystatin C in the blood circulation. hp0009lx5z peter owl:Class HP:0031364 biolink:NamedThing Ecchymosis A purpuric lesion that is larger than 1 cm in diameter. hp0009lx5z Ecchymoses 2017-08-29 12:32:57+00:00 peter owl:Class HP:0006286 biolink:NamedThing Yellow-brown discoloration of the teeth hp0009lx5z Yellow-brown discoloration of the teeth|Yellow-brown discoloured teeth|Yellow-brown discolored teeth|Yellow-brown tooth shade UMLS:C1863008 human_phenotype owl:Class HP:0012232 biolink:NamedThing Shortened QT interval Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). hp0009lx5z peter 2013-03-31T09:34:21Z UMLS:C0151879|SNOMEDCT_US:77867006 human_phenotype owl:Class HP:0033436 biolink:NamedThing Elevated circulating 3-methyl-2-oxovaleric acid concentration An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation. hp0009lx5z 2021-01-09 18:25:27+00:00 peter owl:Class HP:0030080 biolink:NamedThing Burkitt lymphoma A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. hp0009lx5z UMLS:C0006413|MSH:D002051|SNOMEDCT_US:118617000|SNOMEDCT_US:22197008|SNOMEDCT_US:397400006|SNOMEDCT_US:77381001|SNOMEDCT_US:277571004 owl:Class HP:0007859 biolink:NamedThing Congenital horizontal nystagmus Horizontal nystagmus dating from or present at birth. hp0009lx5z Nystagmus, congenital horizontal UMLS:C1866180 human_phenotype owl:Class HP:0007179 biolink:NamedThing Absent smooth pursuit A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. hp0009lx5z UMLS:C4024928 human_phenotype owl:Class HP:0032131 biolink:NamedThing Cervical dysplasia Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium. hp0009lx5z 2018-11-22 13:45:16+00:00 peter owl:Class HP:0004980 biolink:NamedThing Metaphyseal rarefaction Reduction in density of metaphyseal bony tissue. hp0009lx5z Rarefaction of the metaphyses UMLS:C1832146 human_phenotype owl:Class HP:0002684 biolink:NamedThing Thickened calvaria The presence of an abnormally thick calvaria. hp0009lx5z Thickening of the calvaria|Thickened calvaria|Calvarial thickening|Calvarium thickened|Thickened cranium|Increased thickness of skull cap|Increased thickness of calvaria|Increased thickness of cranium|Increased thickness of cranial vault|Thickened calvarium|Thickened cranial vault|Thick calvarium|Thick calvaria|Thickened skull cap|Increased thickness of calvarium|Increased calvarial thickness UMLS:C1858452|UMLS:C4280560 human_phenotype owl:Class HP:0030278 biolink:NamedThing Hypoplastic vertebral pedicle Underdeveloped vertebral pedicle. hp0009lx5z UMLS:C4022540 owl:Class HP:0000273 biolink:NamedThing Facial grimacing hp0009lx5z Facial grimacing SNOMEDCT_US:37126005|UMLS:C0234853 human_phenotype owl:Class HP:0030294 biolink:NamedThing Metaphyseal chondromatosis of tibia hp0009lx5z UMLS:C4022531 owl:Class HP:0025314 biolink:NamedThing Choroidal nevus A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia. hp0009lx5z 2016-12-21 01:54:28+00:00 HPO:probinson owl:Class HP:0030778 biolink:NamedThing Modic type III vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs. hp0009lx5z Modic type 3 vertebral endplate changes UMLS:C4280775 owl:Class HP:0002208 biolink:NamedThing Coarse hair Hair shafts are rough in texture. hp0009lx5z Coarse hair texture|Coarse hair|Rough hair texture HP:0200078 UMLS:C0277959|SNOMEDCT_US:48610005|UMLS:C4072834 human_phenotype owl:Class HP:0012743 biolink:NamedThing Abdominal obesity Excessive fat around the stomach and abdomen. hp0009lx5z Abdominal obesity|Central obesity peter 2014-03-23T05:00:05Z MSH:D056128|SNOMEDCT_US:248311001|UMLS:C0311277 human_phenotype owl:Class HP:0002480 biolink:NamedThing Hepatic encephalopathy Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. hp0009lx5z SNOMEDCT_US:13920009|SNOMEDCT_US:449902003|MSH:D006501|UMLS:C0019151 human_phenotype owl:Class HP:0002743 biolink:NamedThing Recurrent enteroviral infections Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. hp0009lx5z UMLS:C4025681 human_phenotype owl:Class HP:0033246 biolink:NamedThing Type II pneumocyte hypertrophy Increase in size of type II pneumocytes. hp0009lx5z Hypertrophic alveolar type II cells|Hypertrophic alveolar type II pneumocytes 2020-11-25 11:46:33+00:00 peter owl:Class HP:0003023 biolink:NamedThing Bowing of limbs due to multiple fractures Curvature of the shafts of the long bones due to multiple fractures. hp0009lx5z Bowed limbs due to multiple fractures UMLS:C1850178 human_phenotype owl:Class HP:0430013 biolink:NamedThing Absent palatine bone ossification Lack of formation of the palatine bone. hp0009lx5z Absence of palatine bone mineralization|Absence of palatine bone calcification|Absence of palatine bone formation UMLS:C4021867 owl:Class HP:0410228 biolink:NamedThing Increased anti-plant based food allergen IgE antibody level Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits. hp0009lx5z Increased level of anti-plant based food allergen IgE antibody 2018-10-03 21:28:37+00:00 owl:Class HP:0025024 biolink:NamedThing Megarectum An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum. hp0009lx5z 2016-08-26 11:18:38+00:00 Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and faecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507]. HPO:probinson owl:Class HP:0011847 biolink:NamedThing Giant cell tumor of bone A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. hp0009lx5z Giant cell tumour of bone peter 2012-05-09T08:35:52Z UMLS:C0206638|MSH:D018212|SNOMEDCT_US:57500000|SNOMEDCT_US:697970009 human_phenotype owl:Class HP:0040162 biolink:NamedThing Orthokeratosis Formation of an anuclear keratin layer hp0009lx5z UMLS:C1843359|SNOMEDCT_US:708474007 owl:Class HP:0025124 biolink:NamedThing Fragile teeth A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma. hp0009lx5z Spontaneous tooth fracture|Enamel with tendency to chip 2016-11-14 01:53:11+00:00 HPO:probinson owl:Class HP:0025093 biolink:NamedThing Peripapillary exudate A retinal exudate in the area surrounding the optic nerve head. hp0009lx5z Peripapillary exudation 2016-10-24 01:19:32+00:00 HPO:probinson owl:Class HP:0033757 biolink:NamedThing Pancreatic steatosis Fat infiltration in the pancreas. hp0009lx5z Non-alcoholic fatty pancreatic disease|Pancreatic lipomatosis|Pancreatic lipomatous pseudohypertrophy|Pancreatic fatty infiltration|Fatty pancreas|Pancreatic fatty replacement 2021-04-22 22:17:33+00:00 Pancreatic steatosis is the most common benign pathologic condition of the pancreas in adult and commonly related to obesity and associated insulin resistance. peter owl:Class HP:0000081 biolink:NamedThing Duplicated collecting system A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. hp0009lx5z Duplex collecting system|Duplicated renal collecting system|Double collecting system|Double urinary collecting systems on intravenous pyelography peter 2008-02-25T12:45:00Z UMLS:C1858565 human_phenotype owl:Class HP:0032370 biolink:NamedThing Blood group A ABO phenotype A, corresponding to the genotype AO or AA. hp0009lx5z 2019-02-23 18:59:31+00:00 peter owl:Class HP:0001281 biolink:NamedThing Tetany A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. hp0009lx5z Intermittent involuntary muscle spasm UMLS:C0039621|MSH:D013746|SNOMEDCT_US:10629009 human_phenotype owl:Class HP:0011463 biolink:NamedThing Childhood onset Onset of disease at the age of between 1 and 5 years. hp0009lx5z Symptoms begin in childhood This term refers to ages up to but not including the fifth birthday (see Juvenile onset). peter 2012-03-25T07:16:20Z HP:0003617|HP:0003586 UMLS:C1837352 human_phenotype owl:Class HP:0030679 biolink:NamedThing Ash-leaf spot A hypopigmented spot in the shape of a leaf from the mountain ash tree. hp0009lx5z Wood's light is a blue light with an emission peak of 360 nm. The blue end of visible light is absorbed by epidermal pigmentation. If there is no epidermal pigmentation in a site, the area will appear nonpigmented as compared with the surrounding skin. Minimally visible hypopigmented spots are more easily visualized with the Wood's lamp. Ash-leaf spots are only one variety of hypopigmented macules present on the skin of patients who have tuberous sclerosis. UMLS:C4073125 owl:Class HP:0001927 biolink:NamedThing Acanthocytosis Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. hp0009lx5z Acanthocytes|Red cell acanthocytosis HP:0005552 UMLS:C0687751|SNOMEDCT_US:250249008 human_phenotype owl:Class HP:0033877 biolink:NamedThing Arcuate vein intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. hp0009lx5z Intraluminal thrombi within arcuate veins 2021-06-23 19:29:12+00:00 peter owl:Class HP:0032327 biolink:NamedThing Interhemispheric cyst Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system. hp0009lx5z 2019-02-16 14:47:30+00:00 peter owl:Class HP:0011253 biolink:NamedThing Type I cryptotia A type of cryptotia associated with reduction in size of the antihelix and superior crus. hp0009lx5z Type 1 cryptotia peter 2011-12-18T02:14:49Z UMLS:C4023442 human_phenotype owl:Class HP:0031401 biolink:NamedThing Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. hp0009lx5z 2017-09-03 13:02:44+00:00 peter owl:Class HP:0031218 biolink:NamedThing Inappropriate antidiuretic hormone secretion A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume. hp0009lx5z SIADH|Syndrome of inappropriate antidiuretic hormone secretion|Inappropriate ADH secretion 2017-07-02 11:46:17+00:00 Common etiologies of inappropriate antidiuretic hormone (ADH) secretion include nervous system disease, cancer, pulmonary disease, and as a side effect of a medication. This term is meant to refer to the inappropriately high level of ADH and not to the full syndrome of inappropriate antidiuretic hormone secretion (SIADH), which is considered a disease entity rather than a phenotypic feature. peter owl:Class HP:0005828 biolink:NamedThing Transient pulmonary infiltrates hp0009lx5z UMLS:C3805920 human_phenotype owl:Class HP:0032632 biolink:NamedThing Renal papillary necrosis Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. hp0009lx5z peter owl:Class HP:0030635 biolink:NamedThing Retinal dystrophy with early macular involvement hp0009lx5z UMLS:C4049066 owl:Class HP:0040217 biolink:NamedThing Elevated hemoglobin A1c An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. hp0009lx5z Elevated glycosylated hemoglobin|Elevated glycated hemoglobin|Increased HbA1c levels|Elevated haemoglobin A1c|Elevated glycated haemoglobin|Elevated HbA1c|Elevated glycosylated haemoglobin UMLS:C4073162 owl:Class HP:0033227 biolink:NamedThing Glomerular synechial adhesion An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. hp0009lx5z 2020-10-30 11:05:52+00:00 peter owl:Class HP:0040320 biolink:NamedThing Red-brown urine An abnormal red-brown color of the urine. hp0009lx5z red brown urine http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean ORCID:0000-0002-5316-1399 owl:Class HP:0001572 biolink:NamedThing Macrodontia Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. hp0009lx5z Increased size of tooth|Tooth mass excess|Large tooth|Hyperplasia of tooth|Megalodontia|Hypertrophy of tooth|Increased width of tooth The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased. UMLS:C0266036|UMLS:C4280592|SNOMEDCT_US:71485000|UMLS:C4280591|UMLS:C4280590 owl:Class HP:0007814 biolink:NamedThing Retinal pigment epithelial mottling Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium. hp0009lx5z Salt and pepper retinal pigmentation|Focal hypopigmentation of the retinal pigment epithelium|Salt and pepper retinopathy|RPE irregularity|Retinal pigment epithelium irregularity|RPE mottling HP:0001124 UMLS:C1857644 human_phenotype owl:Class HP:0007398 biolink:NamedThing Asymmetric, linear skin defects hp0009lx5z UMLS:C4024888 human_phenotype owl:Class HP:0004845 biolink:NamedThing Acute monocytic leukemia The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation. hp0009lx5z AML-M5|Acute monoblastic leukemia|Acute monocytic leukaemia|AMoL|Acute monoblastic leukaemia HP:0004833 SNOMEDCT_US:22331004|SNOMEDCT_US:413441006|UMLS:C0023465|MSH:D007948 human_phenotype owl:Class HP:0031313 biolink:NamedThing Abdominal aortic calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta. hp0009lx5z 2017-08-26 21:44:24+00:00 peter owl:Class HP:0010423 biolink:NamedThing Partial duplication of the proximal phalanx of the 2nd toe Partial duplication of proximal phalanx of second toe. hp0009lx5z Partial duplication of the innermost 2nd toe bone|Partial duplication of the proximal phalanx of the second toe doelkens 2009-07-16T12:56:56Z UMLS:C4021270 human_phenotype owl:Class HP:0033061 biolink:NamedThing Increased factor IX activity Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. hp0009lx5z peter owl:Class HP:0025441 biolink:NamedThing Achilles tendon calcification Ectopic deposition of calcium salts in the Achilles tendon. hp0009lx5z Calcification of the Achilles tendon 2017-04-24 00:51:04+00:00 HPO:probinson owl:Class HP:0005722 biolink:NamedThing Hyperextensible thumb The ability of the thumb joints to move beyond their normal range of motion. hp0009lx5z Double jointed thumb UMLS:C4025148 human_phenotype owl:Class HP:0031518 biolink:NamedThing Absent posterior alpha rhythm Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. hp0009lx5z 2017-09-22 02:28:47+00:00 peter owl:Class HP:0410158 biolink:NamedThing Increased urine O-phosphoethanolamine level An increase in the level of O-phosphoethanolamine in the urine. hp0009lx5z Increased level of O-phosphoethanolamine in urine 2018-03-28 19:43:27+00:00 owl:Class HP:0005602 biolink:NamedThing Progressive vitiligo hp0009lx5z UMLS:C3806428 human_phenotype owl:Class HP:0005942 biolink:NamedThing Desquamative interstitial pneumonitis Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. hp0009lx5z Filling of the alveoli with alveolar macrophages|Filling of the alveoli with desquamated epithelial cells|Intra-alveolar accumulation of macrophages The name originated from the belief that the dominant histologic feature was desquamation of epithelial cells. However, this is now recognized to be intra-alveolar macrophage accumulation rather than desquamation of epithelial cells as originally thought by Liebow and Carrington. In adults the condition is almost invariable associated with cigarette smoke. However, rare cases occur in nonsmokers, some of whom have had exposure to environmental inhalation exposures including passive exposure to cigarette smoke. In children genetically caused surfactant dysfunction syndromes may have the histological pattern of DIP. SNOMEDCT_US:8549006|UMLS:C0238378|MSH:C562470 owl:Class HP:0031270 biolink:NamedThing Decreased CD25 upregulation upon TCR activation Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR). hp0009lx5z Reduced IL2RA upregulation upon TCR activation|Poor CD25 upregulation upon TCR activation 2017-08-12 20:02:57+00:00 peter owl:Class HP:0031269 biolink:NamedThing Abnormal CD25 upregulation upon TCR activation Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression. hp0009lx5z 2017-08-12 19:51:36+00:00 peter owl:Class HP:0007817 biolink:NamedThing Horizontal supranuclear gaze palsy A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. hp0009lx5z UMLS:C4024794 human_phenotype owl:Class HP:0032378 biolink:NamedThing Immediate-type hypersensitivity drug reaction Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement. hp0009lx5z 2019-02-24 14:43:10+00:00 Hypersensitivity is broadly defined as objectively reproducible symptoms or signs, initiated by exposure to a defined stimulus at a dose tolerated by normal subjects and may be caused by immunologic (allergic) and non-immunologic mechanisms. peter owl:Class HP:0010569 biolink:NamedThing Elevated 7-dehydrocholesterol Elevated 7-dehydrocholesterol levels. hp0009lx5z Elevated levels of cholesta-5,7-dien-3beta-ol Elevated 7-dehydrocholesterol levels occur as the result of a deficiency of the enzyme delta-7-sterol reductase, the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Homozygous mutations in the gene encoding for this enzyme are the molecular genetic cause of Smith-Lemli-Opitz Syndrome. sandra1 2009-10-19T08:49:58Z UMLS:C1849185 human_phenotype owl:Class HP:0005733 biolink:NamedThing Spinal stenosis with reduced interpedicular distance An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging). hp0009lx5z Spinal stenosis due to short pedicles The pedicles are two short, thick processes that connect the body of the vertebrae to the arch. HP:0004597 UMLS:C4021625 human_phenotype owl:Class HP:0011852 biolink:NamedThing Chylopericardium Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct. hp0009lx5z hecht 2012-05-21T10:44:29Z UMLS:C0242426|MSH:D010490|SNOMEDCT_US:233890005 owl:Class HP:0025336 biolink:NamedThing Delayed ability to sit A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. hp0009lx5z 2017-02-12 12:04:58+00:00 This milestone can be defined as the ability of an infant to sit up straight with head erect for at least 10 s without using arms or hands to balance body or support the position. HPO:probinson owl:Class HP:0033787 biolink:NamedThing Cementum hypoplasia The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth. hp0009lx5z Cementum aplasia 2021-05-07 11:07:41+00:00 peter owl:Class HP:0025616 biolink:NamedThing Sterile abscess An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms. hp0009lx5z 2019-04-08 22:44:34+00:00 HPO:probinson owl:Class HP:0032675 biolink:NamedThing Acute cutaneous wound A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin. hp0009lx5z Wound healing accors in multiple overlapping stages, with re=-eipthelialization normally beginning on day one or two. In most clinical settings, closure of acute and chronic wounds is considered the wound healing end point, but wounds can continue to undergo remodeling or tissue maturation for several months or even years. peter owl:Class HP:0030677 biolink:NamedThing Mozart ear A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus. hp0009lx5z HPO:skoehler UMLS:C4073124 owl:Class HP:0010954 biolink:NamedThing Hypoplastic right heart Underdevelopment of the right-sided structures of the heart. hp0009lx5z Underdeveloped right heart|Hypoplastic right heart syndrome Hypoplastic right heart syndrome (HRHS) causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill. peter 2011-01-17T03:31:37Z SNOMEDCT_US:268180007|SNOMEDCT_US:39589002|UMLS:C0265856|UMLS:C0344963 human_phenotype owl:Class HP:0031160 biolink:NamedThing Myelokathexis Impaired egress of mature neutrophils from bone marrow causing neutropenia. hp0009lx5z 2017-06-18 14:13:54+00:00 The word myelo-kathexis is derived from the Greek words for marrow (myelo) retention (kathexis). Unlike other forms of severe neutropenia, myelokathexis is characterized by granulocytic hyperplasia in the bone marrow, which contains neutrophils with cytoplasmic vacuoles, nuclear hypersegmentation, and pyknotic nuclear lobes connected by thin filaments. peter owl:Class HP:0100343 biolink:NamedThing Tibial deviation of the 3rd toe hp0009lx5z doelkens 2010-11-11T03:43:52Z UMLS:C4022137 human_phenotype owl:Class HP:0008747 biolink:NamedThing Cartilaginous ossification of larynx Ossification affecting the set of cartilages of larynx. hp0009lx5z This term describes abnormal ossification affecting one or more of the cartilages of the larnyx (cricoid cartilage, thyroid cartilage, epiglottic cartilage, arytenoid cartilage, corniculate cartilage, cuneiform cartilage, triticeal cartilage, and sesamoid cartilage). UMLS:C1855622 human_phenotype owl:Class HP:0033501 biolink:NamedThing Subepithelial glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. hp0009lx5z 2021-01-10 14:16:42+00:00 peter owl:Class HP:0033045 biolink:NamedThing Bipedal edema A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid). hp0009lx5z Bipedal oedema peter owl:Class HP:0030143 biolink:NamedThing Hyperactive bowel sounds Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines. hp0009lx5z Borborygmi|Increased bowel sounds UMLS:C0232694|SNOMEDCT_US:18101008 owl:Class HP:0031044 biolink:NamedThing Type A5 brachydactyly A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5. hp0009lx5z 2017-05-27 13:48:13+00:00 Individuals with BDA5 may have nail dysplasia; this should be coded separately. peter owl:Class HP:0002695 biolink:NamedThing Symmetrical, oval parietal bone defects hp0009lx5z Symmetrical, oval defects in the parietal bone UMLS:C1865045 human_phenotype owl:Class HP:0030786 biolink:NamedThing Photopsia Perceived flashes of light. hp0009lx5z Photopsia may be associated with (1) posterior vitreous detachment, (2) migraine with aura, (3) migraine aura without headache, and (4) retinal break or detachment. SNOMEDCT_US:56170001|UMLS:C0085635 owl:Class HP:0008437 biolink:NamedThing Bifid thoracic vertebrae hp0009lx5z UMLS:C2751478 human_phenotype owl:Class HP:0033496 biolink:NamedThing Perihilar segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. hp0009lx5z Segmental glomerulosclerosis, perihilar pattern 2021-01-10 13:24:42+00:00 peter owl:Class HP:0031074 biolink:NamedThing Abnormal response to ACTH stimulation test An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. hp0009lx5z Abnormal response to adrenocorticotropic-hormone stimulation test|Abnormal response to corticotropin stimulation test 2017-05-28 23:15:41+00:00 Corticotropin is another term for ACTH. peter owl:Class HP:0500163 biolink:NamedThing Hypoornithinemia An abnormal decrease in ornithine in the blood. hp0009lx5z Decreased blood ornithine concentrations|Low blood ornithine levels 2018-10-12 13:25:49+00:00 owl:Class HP:0400004 biolink:NamedThing Long ear Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. hp0009lx5z Long ear|Long ears The commonly used term Macrotia is a bundled term comprising increased length and width (surface area). UMLS:C1848657 owl:Class HP:0032491 biolink:NamedThing Increased circulating argininosuccinic acid An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation. hp0009lx5z 2019-04-11 12:01:22+00:00 Argininosuccinic acid is an intermediate in the urea cycle. peter owl:Class HP:0200150 biolink:NamedThing Increased serum bile acid concentration during pregnancy hp0009lx5z Increased serum bile acid concentration during pregnancy, resolves sebastiankohler 2013-06-13T01:05:40Z UMLS:C4021882|UMLS:C4020695 human_phenotype owl:Class HP:0031027 biolink:NamedThing Internal notch of the femoral head A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546. hp0009lx5z 2017-05-21 16:09:24+00:00 peter owl:Class HP:0032525 biolink:NamedThing Aggravated by acetylcholinesterase inhibitor Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon). hp0009lx5z 2019-05-26 11:44:24+00:00 peter owl:Class HP:0012446 biolink:NamedThing Decreased CSF 5-methyltetrahydrofolate concentration A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. hp0009lx5z Reduced CSF 5-methyltetrahydrofolate concentration|Cerebral folate deficiency|Low CSF 5-methyltetrahydrofolate peter 2013-11-23T03:40:41Z HP:0012336 UMLS:C4022901|MSH:C567791|SNOMEDCT_US:711403001|UMLS:C2751584 owl:Class HP:0031862 biolink:NamedThing Increased heart rate variability Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. hp0009lx5z 2018-05-05 21:05:04+00:00 peter owl:Class HP:0003573 biolink:NamedThing Increased total bilirubin Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. hp0009lx5z High bili total|Increased bilirubin HP:0008168 SNOMEDCT_US:176271000119108|UMLS:C0741494 human_phenotype owl:Class HP:0030621 biolink:NamedThing Foveal inner retinal layer loss on macular OCT hp0009lx5z UMLS:C4073091 owl:Class HP:0032992 biolink:NamedThing Abnormal pulmonary fissure architecture An abnormal form or location of a pulmonary fissure. hp0009lx5z peter owl:Class HP:0008981 biolink:NamedThing Calf muscle hypertrophy Muscle hypertrophy affecting the calf muscles. hp0009lx5z Muscular hypertrophy of the calf muscles|Increased size of calf muscles|Calf hypertrophy Distal lower limb hypertrophy HP:0009024|HP:0003703 UMLS:C1843057 human_phenotype owl:Class HP:0009992 biolink:NamedThing Complete duplication of the middle phalanx of the 5th finger Complete duplication of the fifth middle phalanx of hand. hp0009lx5z Complete duplication of the middle little finger bone|Complete duplication of the middle pinkie finger bone|Complete duplication of the middle pinky finger bone doelkens 2009-05-26T02:24:33Z UMLS:C4024125 human_phenotype owl:Class HP:0011191 biolink:NamedThing Unilateral multifocal epileptiform discharges Epileptiform discharges being identified at multiple locations in one hemisphere. hp0009lx5z hecht 2011-11-19T10:48:51Z UMLS:C4023483 human_phenotype owl:Class HP:0410057 biolink:NamedThing Increased level of D-threitol in plasma An increase in the level of D-threitol in the plasma. hp0009lx5z 2018-01-27 02:34:34+00:00 D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. ORCID:0000-0001-5208-3432 owl:Class HP:0006217 biolink:NamedThing Limited mobility of proximal interphalangeal joint hp0009lx5z Limited mobility of innermost hinge joint UMLS:C1857288 human_phenotype owl:Class HP:0032529 biolink:NamedThing Elevated circulating gamma-aminobutyric acid concentration An increased concentration of gamma-aminobutyric acid (GABA) in the blood circulation. hp0009lx5z Elevated circulating GABA concentration 2019-05-27 12:51:41+00:00 Gamma-aminobutyric acid (GABA) is the primary inhibitory neurotransmitter known to counterbalance the action of the excitatory neurotransmitter glutamate. peter owl:Class HP:0410219 biolink:NamedThing Hypoplasia of mandible relative to maxilla Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw). hp0009lx5z Disorder of mandibular and maxillary dental arch relationship 2018-09-25 00:54:14+00:00 owl:Class HP:0012770 biolink:NamedThing Reduced arm span Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). hp0009lx5z Reduced arm span peter 2014-04-07T03:09:58Z UMLS:C4022730 human_phenotype owl:Class HP:0003447 biolink:NamedThing Axonal loss A reduction in the number of axons in the peripheral nervous system. hp0009lx5z This finding can be observed upon nerve biopsy. HP:0003360 UMLS:C1832338 human_phenotype owl:Class HP:0032823 biolink:NamedThing Neonatal electro-clinical seizure with behavior arrest Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations. hp0009lx5z Neonatal electroclinical seizure with behavioural arrest|Neonatal electro-clinical seizure with behaviour arrest May be focal and/or followed by apnea, other autonomic manifestations and motor seizures. peter owl:Class HP:0000298 biolink:NamedThing Mask-like facies A lack of facial expression often with staring eyes and a slightly open mouth. hp0009lx5z Masklike facies|Amimia|Expressionless face|Mask-like facial appearance|Lack of facial expression Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy. UMLS:C0424448|SNOMEDCT_US:103606006 human_phenotype owl:Class HP:0010595 biolink:NamedThing Abnormality of the distal fibular epiphysis Any abnormality of the distal epiphysis of the fibula. hp0009lx5z Abnormality of the outermost end part of calf bone sandra1 2009-10-22T03:04:39Z UMLS:C4023778 human_phenotype owl:Class HP:0003329 biolink:NamedThing Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes hp0009lx5z UMLS:C4025631 human_phenotype owl:Class HP:0012314 biolink:NamedThing Bouchard's node Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. hp0009lx5z Heberden's nodes are generally a sign of osteoarthritis. peter 2013-08-10T12:27:25Z UMLS:C0263780|SNOMEDCT_US:20243008 human_phenotype owl:Class HP:0001449 biolink:NamedThing Duplication of metatarsal bones hp0009lx5z Duplication of long bones of foot peter 2008-04-17T02:37:00Z UMLS:C4025778 human_phenotype owl:Class HP:0032486 biolink:NamedThing Elevated fecal osmolality Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram. hp0009lx5z Elevated faecal osmolality 2019-04-11 11:41:54+00:00 peter owl:Class HP:0002067 biolink:NamedThing Bradykinesia Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). hp0009lx5z Slow movements|Slowness of movements MSH:D018476|UMLS:C0233565|SNOMEDCT_US:399317006 human_phenotype owl:Class HP:0003719 biolink:NamedThing Muscle mounding hp0009lx5z Transient swelling of muscle induced by percussion. UMLS:C1853702 human_phenotype owl:Class HP:0003678 biolink:NamedThing Rapidly progressive Applies to a disease manifestation that quickly increases in scope or severity over the course of time. hp0009lx5z Worsening quickly|Rapidly progressive disorder|Rapid progression UMLS:C1850776|UMLS:C1838681 owl:Class HP:0012476 biolink:NamedThing Decreased specific pneumococcal antibody level The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci. hp0009lx5z Specific pneumococcal antibody deficiency|Low pneumococcal antibody titer peter 2013-11-27T10:28:04Z UMLS:C4022890 owl:Class HP:0004679 biolink:NamedThing Large tarsal bones hp0009lx5z Large ankle bones UMLS:C1859116 human_phenotype owl:Class HP:0002847 biolink:NamedThing Impaired memory B cell generation Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge. hp0009lx5z UMLS:C4025672 human_phenotype owl:Class HP:0032432 biolink:NamedThing Increased HDL3c concentration An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. hp0009lx5z 2019-03-02 13:51:23+00:00 peter owl:Class HP:0011625 biolink:NamedThing Multiple muscular ventricular septal defects A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum. hp0009lx5z Swiss cheese ventricular septal defect peter 2012-04-08T09:49:03Z UMLS:C4023263 human_phenotype owl:Class HP:0000848 biolink:NamedThing Increased circulating renin level An increased level of renin in the blood. hp0009lx5z Hyperreninemia|Increased serum renin|Increased plasma renin|Elevated plasma renin|Elevated blood renin level HP:0003615 UMLS:C0240783 human_phenotype owl:Class HP:0031569 biolink:NamedThing Absent aortic valve cusps A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva. hp0009lx5z Absent aortic valve 2017-09-29 23:21:20+00:00 peter Fyler:1484 owl:Class HP:3000014 biolink:NamedThing Abnormality of procerus muscle An abnormality of a procerus. hp0009lx5z vasilevs 2015-02-26T03:58:45Z UMLS:C4073223 human_phenotype owl:Class HP:0011152 biolink:NamedThing Early onset absence seizures Typical absence seizures starting before the age of 4 years. hp0009lx5z Early onset petit mal seizures peter 2011-10-18T02:12:41Z UMLS:C4023510 human_phenotype owl:Class HP:0011513 biolink:NamedThing Retinal cavernous angioma A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance. hp0009lx5z The lesions are variable in size and location, and frequently follow the course of a major retinal vein. Epiretinal membranes are a common feature. In contrast to retinal capillary hemangiomas, cavernous hemangiomas lack prominent feeder vessels, intraretinal exudate, and surrounding subretinal fluid. Because the fundoscopic features are characteristic, diagnosis can generally be made based upon clinical appearance. peter 2012-04-06T04:12:54Z UMLS:C0730304|SNOMEDCT_US:312937006 human_phenotype owl:Class HP:0010152 biolink:NamedThing Enlarged epiphysis of the 1st metatarsal hp0009lx5z Enlarged end part of the 1st long bone of foot doelkens 2009-05-29T01:24:17Z UMLS:C4024007 human_phenotype owl:Class HP:0012323 biolink:NamedThing Sleep myoclonus Myoclonus that occurs during the initial phases of sleep. hp0009lx5z peter 2013-08-11T10:21:47Z UMLS:C0751352|MSH:D009207|SNOMEDCT_US:34101000119105 human_phenotype owl:Class HP:0033850 biolink:NamedThing Coldness Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness. hp0009lx5z Cool skin temperature|Cold skin temperature|Cool skin|Coolness to palpation 2021-06-02 17:59:33+00:00 Coldness is a nonspecific finding, but can be a sing of peripheral vascular disease with a reduction in blood perfusion resulting in relative coldness of the affected body part (usually a hand or foot or an extremity). peter owl:Class HP:0008807 biolink:NamedThing Acetabular dysplasia The presence of developmental dysplasia of the acetabular part of hip bone. hp0009lx5z Dysplastic acetabulae HP:0008799 UMLS:C1328407|MSH:D006617 human_phenotype owl:Class HP:0020197 biolink:NamedThing Increased circulating arachidonic acid concentration An increased circulation of arachidonic acid in the blood circulation. hp0009lx5z Increased circulating arachidonate level|Increased circulating arachidonic acid level robinp 2019-09-05 14:12:41+00:00 owl:Class HP:0012168 biolink:NamedThing Head-banging Habitual striking of one's own head against a surface such as a mattress or wall of a crib. hp0009lx5z Head-banging peter 2013-02-20T09:33:57Z SNOMEDCT_US:43954004|MSH:D019956|UMLS:C0018672 human_phenotype owl:Class HP:0011341 biolink:NamedThing Long upper lip Increased width of the upper lip. hp0009lx5z Increased vertical length of upper lip|Elongation of upper lip|Increased height of upper lip|Long upper lip peter 2012-02-26T01:58:08Z UMLS:C3151495 human_phenotype owl:Class HP:5000037 biolink:NamedThing Anti-Yo antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo. hp0009lx5z Anti-Purkinje cell cytoplasmic antibody 1 ORCID:0000-0002-3387-1836 owl:Class HP:0200063 biolink:NamedThing Colorectal polyposis Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. hp0009lx5z Colorectal polyps sebastiankohler 2013-05-31T01:19:31Z UMLS:C0949059|SNOMEDCT_US:399505005 human_phenotype owl:Class HP:0012160 biolink:NamedThing Intracranial internal carotid artery dissection A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall. hp0009lx5z peter 2013-02-16T07:31:51Z UMLS:C4023017 human_phenotype owl:Class HP:5000034 biolink:NamedThing Anti-Tr/DNER antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr. hp0009lx5z PCA-Tr|Anti-delta/notch-like epidermal growth factor-related receptor antibody ORCID:0000-0002-3387-1836 owl:Class HP:5000039 biolink:NamedThing Anti-Zic4 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4). hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0031166 biolink:NamedThing Eyelid myokymia Involuntary, fine, continuous, undulating contractions of the eyelid. hp0009lx5z Orbicularis myokymia|Myokymia orbicularis 2017-06-18 19:03:22+00:00 peter owl:Class HP:0030431 biolink:NamedThing Osteochondroma A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. hp0009lx5z Osteocartilaginous exostoses|Osteochondromas SNOMEDCT_US:52299001|SNOMEDCT_US:307573009|MSH:D015831|SNOMEDCT_US:443093007|UMLS:C0029423 owl:Class HP:0031061 biolink:NamedThing Impaired toileting ability This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode. hp0009lx5z 2017-05-28 22:22:26+00:00 peter owl:Class HP:0008247 biolink:NamedThing Euthyroid hyperthyroxinemia An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease. hp0009lx5z Asymptomatic hyperthyroxinemia Any functional abnormality of the thyroid gland and the systems that control its rate of production of thyroid hormone (hypothalamic-pituitary-thyroid axis) and the peripheral reactivity to thyroid hormone. HP:0008212 UMLS:C4021549 human_phenotype owl:Class HP:0030129 biolink:NamedThing Impaired ristocetin cofactor assay activity Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma. hp0009lx5z Ristocetin induced platelet agglutination (RIPA) is similar to the Ristocetin Cofactor Assay but RIPA measures platelet agglutination induced by Ristocetin-mediated VWF binding to the platelet Gp1b receptor. WITH RIPA, the ristocetin is added directly to the patient's platelet rich plasma and there are no serial dilutions of the plasma sample. UMLS:C4022619 owl:Class HP:0031991 biolink:NamedThing Increased urinary excretion of galactosyl hydroxylysine An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption. hp0009lx5z 2018-07-09 15:24:43+00:00 peter owl:Class HP:0100564 biolink:NamedThing Triplomyelia Triplication of the spinal cord - extremely rare. hp0009lx5z Triplication of spinal cord doelkens 2010-12-21T04:35:22Z UMLS:C4022022 human_phenotype owl:Class HP:0033192 biolink:NamedThing Decreased circulating selenium concentration An abnormally reduced concentration of selenium in the blood circulation. hp0009lx5z 2020-10-04 12:17:32+00:00 peter owl:Class HP:0012173 biolink:NamedThing Orthostatic tachycardia An increase in heart rate with standing of 30 beats per minute or more. hp0009lx5z Postural tachycardia peter 2013-02-23T09:42:20Z UMLS:C4021099 human_phenotype owl:Class HP:0006114 biolink:NamedThing Multiple palmar creases The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease). hp0009lx5z Multiple palm lines UMLS:C1861872 human_phenotype owl:Class HP:0010285 biolink:NamedThing Oral synechia Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges. hp0009lx5z Oral fibrous bands|Synechiae of the mouth These bands must be distinguished from synechiaee between the tongue and palate (glossopalatal ankylosis) and from synechiae arising from the floor of the mouth (as in the subglossopalatal membrane), oropharyngeal isthmus (as in persistent buccopharyngeal membrane) or from the lower lip. If there is a complete soft tissue contiguity between the upper and lower alveolar ridges, the term, Fibrous syngnathia should be used instead. peter 2009-07-12T10:37:03Z UMLS:C4023921 human_phenotype owl:Class HP:0031371 biolink:NamedThing Rectal perforation A hole (perforation) in the wall of the rectum. hp0009lx5z 2017-09-02 01:31:51+00:00 peter owl:Class HP:0030174 biolink:NamedThing Increased peripheral myelin thickness Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion. hp0009lx5z UMLS:C4022599 owl:Class HP:0007595 biolink:NamedThing Redundant skin in infancy hp0009lx5z Excess skin in infancy UMLS:C1835587 human_phenotype owl:Class HP:0010570 biolink:NamedThing Low maternal serum alpha-fetoprotein An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. hp0009lx5z Low maternal serum alpha-fetoprotein Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. peter 2009-10-20T07:01:24Z UMLS:C4023787 human_phenotype owl:Class HP:0033710 biolink:NamedThing Rest dyspnea A perception of shortness of breath that occurs independently of exertion. hp0009lx5z Breathlessness at rest|Dyspnea at rest|Shortness of breath at rest|Dyspnoea at rest 2021-04-05 14:49:50+00:00 peter owl:Class HP:0025126 biolink:NamedThing Oral hairy leukoplakia A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance. hp0009lx5z 2016-11-14 02:15:28+00:00 HPO:probinson owl:Class HP:0006391 biolink:NamedThing Overtubulated long bones Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. hp0009lx5z UMLS:C1848769 human_phenotype owl:Class HP:0005232 biolink:NamedThing Pancreatic dysplasia The presence of developmental dysplasia of the pancreas. hp0009lx5z Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture. UMLS:C4019084 human_phenotype owl:Class HP:0025343 biolink:NamedThing Lupus anticoagulant Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. hp0009lx5z 2017-02-12 13:19:32+00:00 Most individuals with lupus anticoagulant do not have lupus erythematosus or other systemic autoimmune disorders. One of the tests for lupus anticoagulant is the dilute Russell's viper venom time (dRVVT). HPO:probinson owl:Class HP:0000105 biolink:NamedThing Enlarged kidney An abnormal increase in the size of the kidney. hp0009lx5z Large kidney|Large kidneys|Renal enlargement|Nephromegaly|Enlarged kidney The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography. UMLS:C0542518|SNOMEDCT_US:300444006 human_phenotype owl:Class HP:0030415 biolink:NamedThing Sarcomatoid carcinoma of the tongue Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation. hp0009lx5z Spindle cell carcinoma of the tongue UMLS:C2018408 owl:Class HP:0031344 biolink:NamedThing Pelvic arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis. hp0009lx5z 2017-08-27 13:56:39+00:00 peter owl:Class HP:0020136 biolink:NamedThing Anticardiolipin IgG antibody positivity The presence of circulating IgG autoantibodies to cardiolipin. hp0009lx5z robinp 2019-07-05 17:39:35+00:00 owl:Class HP:0010897 biolink:NamedThing Hypersarcosinuria An elevated urinary concentration of sarcosine. hp0009lx5z High urine sarcosine levels peter 2010-11-30T05:43:45Z UMLS:C4023669 human_phenotype owl:Class HP:0500054 biolink:NamedThing Retinopathy of prematurity stage 4a A detachment that involves the peripheral retina that does not extend into the macula. hp0009lx5z ROP stage 4a 2018-02-19 18:56:37+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0007984 biolink:NamedThing Electronegative electroretinogram A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3). hp0009lx5z Electroretinogram: reduced b-wave amplitude|Reduced amplitude of dark-adapted bright flash electroretinogram b-wave|Reduced electroretinogram rod b-wave|Reduced ERG amplitude of b-wave|Electronegative ERG Flashes will elicit an a-wave with an initial negative deflection followed by a b-wave with positive deflection. This feature refers to a reduction in the amplitude primarily of the b-wave. UMLS:C4021561 human_phenotype owl:Class HP:0005877 biolink:NamedThing Multiple small vertebral fractures hp0009lx5z UMLS:C4025119 human_phenotype owl:Class HP:0033393 biolink:NamedThing Irregularly shaped sperm tail Irregular or changing caliber (diameter) along the tail of the sperm. hp0009lx5z Sperm flagella with irregular calibre|Sperm flagella with irregular caliber 2021-01-06 12:41:14+00:00 peter owl:Class HP:0030491 biolink:NamedThing Choriocapillaris atrophy Atrophy of the capillary lamina of choroid. hp0009lx5z UMLS:C3275758 owl:Class HP:0006145 biolink:NamedThing Central Y-shaped metacarpal A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. hp0009lx5z Y-shaped central long bones of hand UMLS:C1848597 human_phenotype owl:Class HP:0005060 biolink:NamedThing Limited elbow flexion/extension hp0009lx5z UMLS:C1968605 human_phenotype owl:Class HP:0011095 biolink:NamedThing Overjet An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure. hp0009lx5z Protrusion of upper teeth in front of lower teeth|Upper teeth sticking out forward|Protrusion of the maxillary incisors|Abnormality of horizontal incisor relationship|Buck teeth peter 2011-03-11T05:15:43Z UMLS:C0596028|MSH:D057887|SNOMEDCT_US:70305005|SNOMEDCT_US:251292006 human_phenotype owl:Class HP:0001929 biolink:NamedThing Reduced factor XI activity Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. hp0009lx5z Low factor XI activity|Factor XI deficiency UMLS:C0015523|SNOMEDCT_US:49762007|MSH:D005173 human_phenotype owl:Class HP:0012641 biolink:NamedThing Decreased intracranial pressure A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. hp0009lx5z Intracranial hypotension peter 2014-01-19T08:15:01Z SNOMEDCT_US:167714004|UMLS:C0456892|SNOMEDCT_US:277657001 human_phenotype owl:Class HP:0500016 biolink:NamedThing Abnormal cardiac MRI Abnormal results of a MRI for the heart. hp0009lx5z Abnormal heart MRI|Abnormal cardiac magnetic resonance imaging 2017-05-12 16:33:16+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0012380 biolink:NamedThing Reduced carnitine O-palmitoyltransferase level Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. hp0009lx5z peter 2013-10-15T09:00:17Z UMLS:C4022921 human_phenotype owl:Class HP:0031305 biolink:NamedThing Tibial arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery. hp0009lx5z 2017-08-26 21:05:24+00:00 peter owl:Class HP:0030071 biolink:NamedThing Medulloepithelioma A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal. hp0009lx5z Medulloepithelioma is a rare primitive neuroectodermal tumour of the central nervous system usually developing in childhood, displaying highly malignant behaviour, with early progression or recurrence. SNOMEDCT_US:715903004|UMLS:C0334596|MSH:D018242|SNOMEDCT_US:39005004 owl:Class HP:0002861 biolink:NamedThing Melanoma The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). hp0009lx5z Skin cancer (melanoma)|Malignant melanoma|Cancer of skin pigment cells A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis. HP:0006777|HP:0002887|HP:0007474 UMLS:C0025202|SNOMEDCT_US:2092003|NCIT:C3224|MSH:D008545|SNOMEDCT_US:372244006 human_phenotype owl:Class HP:0007023 biolink:NamedThing Antenatal intracerebral hemorrhage Cerebral hemorrhage that occurs before birth. hp0009lx5z Antenatal intracerebral haemorrhage UMLS:C1837247 human_phenotype owl:Class HP:0033910 biolink:NamedThing Arcuate vein medial atrophy Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. hp0009lx5z Medial atrophy within arcuate veins 2021-06-23 23:01:44+00:00 peter owl:Class HP:0040032 biolink:NamedThing Hypoplasia of the upper eyelids hp0009lx5z Underdevelopment of upper eyelid|Decreased size of upper eyelid|Hypotrophic upper eyelid|Short upper eyelid|Small upper eyelid HPO:skoehler UMLS:C4022481 owl:Class HP:0033308 biolink:NamedThing Patellar overgrowth Excessive growth of the kneecap (patella). hp0009lx5z 2020-11-28 22:15:11+00:00 peter owl:Class HP:0033785 biolink:NamedThing Enamel agenesis Complete or almost complete absence of enamel. hp0009lx5z 2021-05-07 10:59:43+00:00 Enamel agenesis can indicate a total absence of enamel or the presence of a very thin enamel layer that is difficult to visualize during clinical examination. It may need microscopic studies to determine whether any enamel is still present. It can be present isolated and as part of rare syndromic entities. peter owl:Class HP:0012059 biolink:NamedThing Lentigo maligna melanoma A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging. hp0009lx5z peter 2012-08-01T02:16:45Z SNOMEDCT_US:302837001|SNOMEDCT_US:44474009|UMLS:C2739810 human_phenotype owl:Class HP:0020041 biolink:NamedThing Double elevator palsy A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. hp0009lx5z 2017-12-20 17:09:14+00:00 robinp owl:Class HP:0025310 biolink:NamedThing Oval pupil An abnormal pupil shape that is elliptical, i.e., egg-like. hp0009lx5z 2016-12-21 01:11:31+00:00 HPO:probinson owl:Class HP:0025309 biolink:NamedThing Abnormal pupil shape A deviation from the normal circular shape of the pupil hp0009lx5z Irregular pupil 2016-12-21 01:08:53+00:00 HPO:probinson owl:Class HP:0033049 biolink:NamedThing Globus pallidus hypointensity on susceptibility-weighted imaging Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI). hp0009lx5z Susceptibility-weighted imaging (SWI) is a relatively new magnetic resonance (MR) technique that exploits the magnetic susceptibility differences of various tissues, such as blood, iron and calcification, as a new source of contrast enhancement. Low SWI signal intensity may suggest deposition of paramagnetic material. peter owl:Class HP:0009918 biolink:NamedThing Ectopia pupillae A malposition of the pupil owing to a developmental defect of the iris. hp0009lx5z Displaced pupil|Corectopia peter 2009-05-02T06:01:01Z UMLS:C1271219|SNOMEDCT_US:392461003|MSH:C536185|SNOMEDCT_US:193523008 human_phenotype owl:Class HP:0033491 biolink:NamedThing Global mesangial sclerosis A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). hp0009lx5z 2021-01-10 13:02:15+00:00 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). peter owl:Class HP:0009439 biolink:NamedThing Short middle phalanx of the 3rd finger Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger. hp0009lx5z Hypoplastic/small middle phalanx of the 3rd finger|Brachymesophalangy III (finger)|Short middle bone of middle finger doelkens 2009-01-14T03:45:02Z HP:0004177|HP:0006212 UMLS:C4021474 owl:Class HP:0025594 biolink:NamedThing Superior oblique muscle overaction An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye. hp0009lx5z 2018-01-13 20:41:15+00:00 HPO:probinson owl:Class HP:0000399 biolink:NamedThing Prelingual sensorineural hearing impairment A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. hp0009lx5z Deafness, sensorineural, prelingual|Prelingual sensorineural deafness HP:0001731 UMLS:C4021806 human_phenotype owl:Class HP:0011537 biolink:NamedThing Left atrial isomerism In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest. hp0009lx5z Left and right hand side atria have left atrial morphology. peter 2012-04-07T10:37:51Z EPCC:03.01.05|MSH:D059446|UMLS:C3178807|ICD-10:Q20.6 human_phenotype owl:Class HP:0031854 biolink:NamedThing Left Isomerism A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. hp0009lx5z Left-sided isomerism 2018-05-05 18:13:50+00:00 peter owl:Class HP:0032142 biolink:NamedThing Fetor hepaticus Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic. hp0009lx5z Foetor hepaticus 2018-11-22 15:28:47+00:00 peter owl:Class HP:0032788 biolink:NamedThing Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure. hp0009lx5z peter owl:Class HP:0012230 biolink:NamedThing Rhegmatogenous retinal detachment A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. hp0009lx5z peter 2013-03-31T09:20:35Z SNOMEDCT_US:19620000|UMLS:C0271055 human_phenotype owl:Class HP:0010728 biolink:NamedThing Aplasia of the retina A developmental defect characterized by absence of the retina. hp0009lx5z Absent retina sdoelken 2010-04-20T11:09:59Z UMLS:C4023718 human_phenotype owl:Class HP:0030463 biolink:NamedThing Asymmetrical distribution of flash visual evoked potentials hp0009lx5z Crossed asymmetry of flash visual evoked potentials UMLS:C4072953 owl:Class HP:0011309 biolink:NamedThing Tapered toe The gradual reduction in girth of the toe from proximal to distal. hp0009lx5z Tapering toes|Tapered toe hecht 2012-02-12T12:41:30Z HP:0008088|HP:0200089 UMLS:C4021167 human_phenotype owl:Class HP:0001841 biolink:NamedThing Preaxial foot polydactyly Duplication of all or part of the first ray. hp0009lx5z Preaxial polydactyly of feet|Preaxial hallucal polydactyly|Partial/complete duplication of the phalanges of the big toe|Preaxial polydactyly of the feet|Polydactyly affecting the hallux|Preaxial polydactyly of foot|Preaxial polydactyly, feet This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet. HP:0009607|HP:0010050 UMLS:C1866339|MSH:C566632|UMLS:C2112942 human_phenotype owl:Class HP:0000751 biolink:NamedThing Personality changes An abnormal shift in patterns of thinking, acting, or feeling. hp0009lx5z Personality changes|Personality change This term refers to changes in personality that are perceived as being abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations. SNOMEDCT_US:102943000|UMLS:C0240735|SNOMEDCT_US:192073007 human_phenotype owl:Class HP:0033607 biolink:NamedThing Bone marrow arrest at the promyelocytic stage A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow. hp0009lx5z 2021-01-30 21:32:32+00:00 peter owl:Class HP:0033609 biolink:NamedThing Solid pulmonary nodule A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance. hp0009lx5z 2021-01-30 22:14:34+00:00 peter owl:Class HP:0003729 biolink:NamedThing Enteroviral dermatomyositis syndrome hp0009lx5z UMLS:C3806660 human_phenotype owl:Class HP:0005401 biolink:NamedThing Recurrent candida infections An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections. hp0009lx5z Frequent candida infections UMLS:C1860128 human_phenotype owl:Class HP:0030816 biolink:NamedThing Gingival recession The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth. hp0009lx5z Receding gums|Gum recession UMLS:C0017572|MSH:D005889|SNOMEDCT_US:4356008 owl:Class HP:0006802 biolink:NamedThing Abnormal anterior horn cell morphology Any anomaly of the anterior horn cell. hp0009lx5z Anomaly of the anterior horn cells|Anterior horn cell disease|Abnormality of the anterior horn cells|Abnormality of the anterior horn cell Anterior horn cells are efferent neurons that passes from the central nervous system or a ganglion toward or to a muscle. They conduct nerve impulses that lead to movement of muscles. SNOMEDCT_US:85672005|MSH:D016472|UMLS:C0154681|UMLS:C4020812 human_phenotype owl:Class HP:0033455 biolink:NamedThing Elevated urinary dicarboxylic acid level Increased amount of a dicarboxylic acid in the urine. hp0009lx5z 2021-01-09 22:03:15+00:00 A dicarboxylic acid is an oxoacid containing two carboxy groups. peter owl:Class HP:0005941 biolink:NamedThing Intermittent hyperpnea at rest hp0009lx5z UMLS:C4025098 human_phenotype owl:Class HP:0020059 biolink:NamedThing Increased red blood cell count An abnormal elevation above the normal number of red blood cells per volume in the circulation. hp0009lx5z Increased RBC count 2018-09-28 23:45:36+00:00 robinp owl:Class HP:0032610 biolink:NamedThing Tubulointerstitial mycobacterial infiltration Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. hp0009lx5z Renal tubulointerstitial mycobacterial organisms peter owl:Class HP:0030411 biolink:NamedThing Jejunal adenocarcinoma A malignant epithelial tumor with a glandular organization that originates in the jejunum. hp0009lx5z NCIT:C2852|UMLS:C4072935 human_phenotype owl:Class HP:0000417 biolink:NamedThing Slender nose hp0009lx5z Slender nose UMLS:C1857645 human_phenotype owl:Class HP:0010800 biolink:NamedThing Absent cupid's bow Lack of paramedian peaks and median notch of the upper lip vermilion. hp0009lx5z Missing cupid's bow|Aplasia of cupid's bow|Agenesis of cupid's bow|Failure of development of cupid's bow|Lack of cupid's bow|Absent cupid's bow This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately. peter 2010-06-26T02:01:31Z UMLS:C2053435 human_phenotype owl:Class HP:0041091 biolink:NamedThing Avulsion fractured epiphysis of femur A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma. hp0009lx5z owl:Class HP:0031103 biolink:NamedThing Decreased antimullerian hormone level A reduction below the normal range of the antimullerian hormone in the circulation. hp0009lx5z Decreased plasma AMH 2017-05-30 02:37:50+00:00 peter owl:Class HP:0031684 biolink:NamedThing Renal artery atherosclerosis An atherosclerotic lesion located in the renal artery. hp0009lx5z 2017-12-17 18:25:00+00:00 peter owl:Class HP:0025635 biolink:NamedThing Ureteral polyp A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk. hp0009lx5z Ureter polyp|Polyp of the ureter 2019-04-26 17:44:45+00:00 HPO:probinson NCIT:C4530 owl:Class HP:0011308 biolink:NamedThing Slender toe Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. hp0009lx5z Narrow toe|Slender toe hecht 2012-02-12T12:39:51Z HP:0200091 UMLS:C4021168 human_phenotype owl:Class HP:0100537 biolink:NamedThing Fasciitis Inflammation of fascia, the tissue under the skin and over the muscle. hp0009lx5z Inflammation of the fascia doelkens 2010-12-20T05:59:18Z SNOMEDCT_US:36948007|MSH:D005208|UMLS:C0015645 human_phenotype owl:Class HP:0100821 biolink:NamedThing Urethrocele The prolapse of the female urethra into the vagina. hp0009lx5z doelkens 2011-06-09T05:06:51Z UMLS:C0238502|ICD-9:618.03|SNOMEDCT_US:12068006 human_phenotype owl:Class HP:0032989 biolink:NamedThing Delayed ability to roll over Delayed ahcievement of the ability to roll front to back and back to front. hp0009lx5z Most infants can roll from the prone to supine position (front to back) at the age of 4 months. Most infants can roll from back to front at the age of 5 or 6 months. peter owl:Class HP:0032324 biolink:NamedThing Non-periodic recurrent fever Episodic fever that recurs at irregular intervals. hp0009lx5z 2019-02-14 11:54:53+00:00 peter owl:Class HP:0100923 biolink:NamedThing Clavicular sclerosis An increase in bone density within the clavicle. hp0009lx5z Osteosclerosis of the clavicles|Increased bone density in collarbone|Osteosclerosis of the clavicle doelkens 2011-12-02T10:28:41Z HP:0006648 UMLS:C3554669 human_phenotype owl:Class HP:0008331 biolink:NamedThing Elevated creatine kinase after exercise hp0009lx5z Elevated phospho-CK after exercise|Elevated creatine phosphokinase after exercise|Increased phospho-CK after exercise|Increased creatine kinase after exercise|Increased phospho-creatine kinase after exercise|Elevated CK after exercise|Increased CK after exercise|Elevated CPK after exercise|Increased creatine phosphokinase after exercise|Elevated phospho-creatine kinase after exercise UMLS:C4024700 human_phenotype owl:Class HP:0010762 biolink:NamedThing Chordoma A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. hp0009lx5z The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervertebral disks. peter 2010-06-25T09:00:39Z UMLS:C0008487|NCIT:C2947|MSH:D002817|SNOMEDCT_US:50007008 human_phenotype owl:Class HP:0001667 biolink:NamedThing Right ventricular hypertrophy In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. hp0009lx5z Heart right ventricle hypertrophy Fyler:3609|MSH:D017380|SNOMEDCT_US:89792004|UMLS:C0162770 human_phenotype owl:Class HP:0031063 biolink:NamedThing Impaired feeding ability Applies to an individual who needs partial or total help with feeding or requires parenteral feeding. hp0009lx5z 2017-05-28 22:24:24+00:00 peter owl:Class HP:0007069 biolink:NamedThing Profound static encephalopathy hp0009lx5z UMLS:C4024944 human_phenotype owl:Class HP:0031291 biolink:NamedThing Ichthyosis follicularis Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. hp0009lx5z 2017-08-13 21:18:38+00:00 peter owl:Class HP:0012596 biolink:NamedThing Moderate proteinuria Moderately increased levels of protein in the urine (500-1000 mg per day in adults). hp0009lx5z peter 2014-01-16T05:56:26Z UMLS:C4022831 human_phenotype owl:Class HP:0032408 biolink:NamedThing Breast mass A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician. hp0009lx5z Breast lump 2019-02-24 20:59:33+00:00 The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. The differential diagnosis of a breast mass includes fibrocystic disease, fibroadenomas, breast cancer, mammary duct ectasia, and intraductal papilloma. peter owl:Class HP:0012197 biolink:NamedThing Insulinoma A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. hp0009lx5z Pancreatic insulinoma peter 2013-03-11T07:06:29Z UMLS:C0021670|SNOMEDCT_US:302822000|MSH:D007340|SNOMEDCT_US:25324008 human_phenotype owl:Class HP:0000884 biolink:NamedThing Prominent sternum hp0009lx5z Prominent sternum|Sternal protrusion UMLS:C1846433 human_phenotype owl:Class HP:0033451 biolink:NamedThing Increased circulating prealbumin concentration An elevation above the normal concentration of prealbumin in the blood circulation. hp0009lx5z 2021-01-09 20:45:47+00:00 peter owl:Class HP:0011287 biolink:NamedThing EEG with occipital sharp slow waves EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. hp0009lx5z peter 2012-02-11T12:28:45Z UMLS:C4023429 human_phenotype owl:Class HP:0031036 biolink:NamedThing Reduced growth-hormone binding protein level A decreased blood concentration of growth hormone binding protein. hp0009lx5z Decreased plasma GH-binding protein 2017-05-27 11:34:42+00:00 peter owl:Class HP:0006277 biolink:NamedThing Pancreatic hyperplasia Hyperplasia of the pancreas. hp0009lx5z Hyperplasia is defined in MPATH as an increase in cell numbers in comparison to normal as a consequence of increased cell proliferation. Hyperplasia is a non -neoplastic process. UMLS:C1851733 human_phenotype owl:Class HP:0011239 biolink:NamedThing Underdeveloped inferior crus of antihelix Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem. hp0009lx5z Hypoplastic inferior crus of antihelix|Hypotrophic inferior crus of antihelix|Antihelix, inferior crus, underdeveloped This finding is highly variable. peter 2011-12-18T11:27:15Z UMLS:C4021194 human_phenotype owl:Class HP:0032188 biolink:NamedThing Cellular hypersensitivity to mitomycin C An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. hp0009lx5z 2019-01-15 11:19:21+00:00 Cellular hypersensitivity to mitomycin C is used in diagnostic criteria for Fanconi Anemia. peter owl:Class HP:0012300 biolink:NamedThing Ureteral agenesis Failure of the ureter to undergo development. hp0009lx5z peter 2013-04-13T06:00:10Z UMLS:C4022959 owl:Class HP:0008750 biolink:NamedThing Laryngeal atresia Congenital absence of the lumen of the larynx. hp0009lx5z Laryngeal atresia results from failure of recanalization of the laryngotracheal tube during the third month of gestation. Laryngeal atresia manifests as acute airway obstruction in the newborn immediately following clamping of the umbilical cord and is fatal without immediate airway management with a tracheotomy. Congenital laryngeal atresia is a rare anomaly that is mostly incompatible with life. Most authors claim that this malformation is related to an arrest of the sixth brachial arch at different gestational stages during normal embryologic development. Complete laryngeal atresia results in a desperate emergency during the first few moments of life, and surgical intervention must occur within 2 to 5 minutes of birth to enable respiration. The most dramatic physical finding is that the child is aphonic, with absence of any cry or gasp at birth. UMLS:C0265756|SNOMEDCT_US:64981002 human_phenotype owl:Class HP:0100698 biolink:NamedThing Subcutaneous neurofibromas The presence of Neurofibromas in the subcutis. hp0009lx5z doelkens 2011-03-29T12:03:47Z UMLS:C1827970|SNOMEDCT_US:425327002 human_phenotype owl:Class HP:0033428 biolink:NamedThing Systemic autoinflammation Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body. hp0009lx5z 2021-01-09 17:48:43+00:00 The main cell types of the innate immune system are monocytes, macrophages, and neutrophils and organ damage is mediated by neutrophils and macrophages. peter owl:Class HP:0020214 biolink:NamedThing Startle-induced seizure Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus. hp0009lx5z Seizures are stereotyped and typically unilateral or bilateral tonic in nature. robinp 2020-02-24 13:51:07+00:00 owl:Class HP:0012375 biolink:NamedThing Chemosis Edema (swelling) of the bulbar conjunctiva. hp0009lx5z peter 2013-10-13T05:45:45Z SNOMEDCT_US:8148005|UMLS:C0271298 human_phenotype owl:Class HP:0031447 biolink:NamedThing Penile freckling Multiple pigmented macules located on the skin of the penis. hp0009lx5z 2017-09-17 14:28:54+00:00 peter owl:Class HP:0009938 biolink:NamedThing Sunken cheeks Lack or loss of the soft tissues between the zygomata and mandible. hp0009lx5z Hollow cheeks|Depressed cheeks|Sunken cheeks peter 2009-05-10T11:17:18Z UMLS:C4024154 human_phenotype owl:Class HP:0002287 biolink:NamedThing Progressive alopecia Progressive loss of hair. hp0009lx5z UMLS:C1851885 human_phenotype owl:Class HP:0003465 biolink:NamedThing Elevated 8(9)-cholestenol hp0009lx5z UMLS:C1840014 human_phenotype owl:Class HP:0030341 biolink:NamedThing Decreased circulating follicle stimulating hormone concentration A reduction of the circulating level of follicle-stimulating hormone (FSH). hp0009lx5z Decreased circulating follicle stimulating hormone level UMLS:C4072889 owl:Class HP:0032045 biolink:NamedThing Hypoplastic carotid canal Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. hp0009lx5z 2018-09-16 10:47:06+00:00 peter owl:Class HP:0033706 biolink:NamedThing Progressive massive fibrosis This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis. hp0009lx5z 2021-03-31 10:46:55+00:00 See Figure 56 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0033905 biolink:NamedThing Arcuate artery intima/media arteriosclerosis Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. hp0009lx5z Arteriosclerosis within arcuate arterial intima/media 2021-06-23 22:47:08+00:00 peter owl:Class HP:0410318 biolink:NamedThing Decreased urinary 3-methylhistidine Decreased concentration of 3-methylhistidine in the urine. hp0009lx5z owl:Class HP:0032067 biolink:NamedThing Elevated serum bicarbonate concentration An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation. hp0009lx5z Elevated serum HCO3 concentration 2018-09-23 14:36:57+00:00 peter owl:Class HP:0011405 biolink:NamedThing Childhood onset short-limb short stature hp0009lx5z Short-limb dwarfism identifiable during childhood peter 2012-03-15T09:44:56Z HP:0003523 UMLS:C1867487 human_phenotype owl:Class HP:0003640 biolink:NamedThing Foam cells in visceral organs and CNS hp0009lx5z UMLS:C1843373 human_phenotype owl:Class HP:0000097 biolink:NamedThing Focal segmental glomerulosclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli. hp0009lx5z focal glomerulosclerosis|Focal and segmental glomerulosclerosis|Focal and segmental glomerular sclerosis Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). FSGS is characterized by focal and segmental occurrence of lesions with mesangial sclerosis, obliteration of glomerular capillaries with hyalinosis and intracapillary foam cells, formation of adhesions between the glomerular tuft and Bowman's capsule, and podocyte hypertrophy. FSGS is not a disease entity, but rather a pattern of injury with quite diverse clinical behavior, morphology, and possibly also pathogenesis. HP:0004747 UMLS:C0017668|MSH:D005923|SNOMEDCT_US:25821008|SNOMEDCT_US:236403004 owl:Class HP:0031433 biolink:NamedThing Alexithymia A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others. hp0009lx5z Unaware of others' emotions 2017-09-16 12:21:45+00:00 peter owl:Class HP:0031522 biolink:NamedThing Cervical clear cell adenocarcinoma A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm. hp0009lx5z Clear cell carcinoma of cervix 2017-09-23 01:51:13+00:00 peter owl:Class HP:0012348 biolink:NamedThing Decreased galactosylation of N-linked protein glycosylation A reduction in the amount of galactose residues of N-glycans. hp0009lx5z The majority of complex and hybrid N-glycans have elongated branches that are made by the addition of a beta-linked galactose residue to the initiating N-acetylglucosamine to produce the ubiquitous building block Gal-beta-linked1-4GlcNAc, referred to as a type-2 N-acetyllactosamine (LacNAc) sequence. peter 2013-09-15T10:02:47Z UMLS:C4022943 human_phenotype owl:Class HP:0030107 biolink:NamedThing Reduced muscle fiber beta sarcoglycan Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy. hp0009lx5z Reduced muscle fibre beta sarcoglycan UMLS:C4022638 owl:Class HP:0500233 biolink:NamedThing Increased CSF alanine concentration Abnormally increased levels of alanine in cerebrospinal fluid. hp0009lx5z High alanine levels in cerebrospinal fluid 2019-02-25 20:55:23+00:00 owl:Class HP:0500232 biolink:NamedThing Abnormal CSF alanine concentration Any deviation from the normal concentration of alanine in the cerebrospinal fluid. hp0009lx5z Abnormal alanine levels in cerebrospinal fluid 2019-02-25 20:53:52+00:00 owl:Class HP:0011601 biolink:NamedThing Rightward direction of ventricular apex Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal. hp0009lx5z peter 2012-04-08T02:46:32Z UMLS:C4023274 human_phenotype owl:Class HP:0008179 biolink:NamedThing Decreased Arden ratio of electrooculogram An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. hp0009lx5z Decreased Arden ratio of EOG UMLS:C4024720 human_phenotype owl:Class HP:0004458 biolink:NamedThing Dilatated internal auditory canal The presence of a dilated inner part of external acoustic meatus. hp0009lx5z Bulbous internal auditory canal|Enlarged internal auditory canal UMLS:C2676973 human_phenotype owl:Class HP:0003427 biolink:NamedThing Thenar muscle weakness hp0009lx5z UMLS:C1832276 human_phenotype owl:Class HP:0032294 biolink:NamedThing Monoclonal elevation of IgG kappa chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain. hp0009lx5z 2019-02-12 22:42:44+00:00 peter owl:Class HP:0100344 biolink:NamedThing Fibular deviation of the 2nd toe hp0009lx5z doelkens 2010-11-11T03:44:07Z UMLS:C4022136 human_phenotype owl:Class HP:0008954 biolink:NamedThing Intrinsic hand muscle atrophy Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. hp0009lx5z UMLS:C1864716 human_phenotype owl:Class HP:0033590 biolink:NamedThing Inguinal abscess A circumscribed area of pus or necrotic debris in the groin (inguinal region). hp0009lx5z Groin abscess 2021-01-28 02:06:20+00:00 peter owl:Class HP:0030368 biolink:NamedThing Hyperphalangy of the 2nd finger An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy. hp0009lx5z Hyperphalangy of index finger UMLS:C4072907 owl:Class HP:0000460 biolink:NamedThing Narrow nose Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. hp0009lx5z Thin nose|Decreased nasal width|Decreased nasal breadth|Narrow nose Note: a small nose has both decreased height and a decreased width. These should be coded separately. UMLS:C0426422|SNOMEDCT_US:249322008 human_phenotype owl:Class HP:0030922 biolink:NamedThing 5-minute APGAR score of 2 hp0009lx5z 2016-11-07 18:14:30+00:00 robinp owl:Class HP:0009931 biolink:NamedThing Enlarged naris Increased aperture of the nostril. hp0009lx5z Enlarged nostril|Broad nostril|Dilated nares|Dilated nostril|Increased width of nares|Naris, broad|Enlarged nares|Increased diameter of nostril|Large nares|Naris, enlarged|Wide nares|Increased diameter of nares|Wide nostril The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age. 2009-05-10T10:30:20Z SNOMEDCT_US:399353008|UMLS:C0426440 human_phenotype owl:Class HP:0010340 biolink:NamedThing Polydactyly affecting the 4th toe hp0009lx5z doelkens 2009-07-16T11:41:21Z UMLS:C4023894 human_phenotype owl:Class HP:0032403 biolink:NamedThing Asparaginuria An increased concentration of asparagine in the urine. hp0009lx5z Increased urine asparagine level|Increased level of asparagine in urine 2019-02-24 17:59:29+00:00 peter owl:Class HP:0008251 biolink:NamedThing Congenital goiter An enlargement of the thyroid gland with congenital onset. hp0009lx5z Congenital goitre UMLS:C0349476|SNOMEDCT_US:276565004 human_phenotype owl:Class HP:0031757 biolink:NamedThing Medial rectus muscle restriction Mechanical limitation of the range of movement of the medial rectus muscle. hp0009lx5z 2018-01-21 14:30:22+00:00 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. peter owl:Class HP:0030751 biolink:NamedThing Grade IV preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension. hp0009lx5z Grade IV preterm intraventricular haemorrhage UMLS:C4280786 owl:Class HP:0005462 biolink:NamedThing Calcification of falx cerebri The presence of calcium deposition in the falx cerebri. hp0009lx5z UMLS:C1397139 human_phenotype owl:Class HP:0000911 biolink:NamedThing Flat glenoid fossa Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. hp0009lx5z See PMID:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa. UMLS:C1855177 human_phenotype owl:Class HP:0011272 biolink:NamedThing Underdeveloped tragus Decreased posterolateral protrusion of the tragus. hp0009lx5z Hypotrophic tragus|Small tragus|Hypoplastic tragus peter 2011-12-18T08:01:33Z UMLS:C4013429 human_phenotype owl:Class HP:0030965 biolink:NamedThing Aortic stiffness The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension. hp0009lx5z Increased aortic stiffness 2017-04-18 13:16:10+00:00 robinp owl:Class HP:0001684 biolink:NamedThing Secundum atrial septal defect A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. hp0009lx5z Ostium secundum atrial septal defect|Patent ostium secundum|Atrial septal defect, ostium secundum type HP:0200131 SNOMEDCT_US:204315000|MSH:D006344|Fyler:2000|ICD-10:Q21.1|UMLS:C0344724 human_phenotype owl:Class HP:0032390 biolink:NamedThing Periventricular ribbonlike heterotopia Heterotopia that forms a continuous wavy line along the ventricular wall. hp0009lx5z 2019-02-24 16:02:11+00:00 peter owl:Class HP:0012009 biolink:NamedThing EEG with central focal spike waves EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. hp0009lx5z hecht 2012-07-20T11:58:18Z UMLS:C4023082 human_phenotype owl:Class HP:0031695 biolink:NamedThing Severe parainfluenza infection An unusually severe infection by a parainfluenza virus. hp0009lx5z 2017-12-17 22:38:29+00:00 peter owl:Class HP:0008227 biolink:NamedThing Pituitary resistance to thyroid hormone A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal. hp0009lx5z SNOMEDCT_US:360353005|SNOMEDCT_US:360348000|UMLS:C0342198 human_phenotype owl:Class HP:0003449 biolink:NamedThing Cold-induced muscle cramps Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. hp0009lx5z UMLS:C1861675 human_phenotype owl:Class HP:0002623 biolink:NamedThing Overriding aorta An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. hp0009lx5z Overriding aortic valve|Dextroposition of aorta Fyler:1432|SNOMEDCT_US:63934006|UMLS:C0011818|UMLS:C0265886 human_phenotype owl:Class HP:0031062 biolink:NamedThing Impaired transferring ability Applies to an individual who needs help in moving from bed to chair or requires a complete transfer. hp0009lx5z 2017-05-28 22:23:15+00:00 peter owl:Class HP:0000860 biolink:NamedThing Parathyroid hypoplasia Developmental hypoplasia of the parathyroid gland. hp0009lx5z Underdeveloped parathyroid glands|Small parathyroid glands UMLS:C1389851 human_phenotype owl:Class HP:0004717 biolink:NamedThing Axial malrotation of the kidney An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. hp0009lx5z UMLS:C4025300 human_phenotype owl:Class HP:0004712 biolink:NamedThing Renal malrotation An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. hp0009lx5z Abnormal rotation of the kidneys|Malrotation of the kidney The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation. HP:0004730 UMLS:C0238210|SNOMEDCT_US:49008000 human_phenotype owl:Class HP:0410171 biolink:NamedThing Increased cotinine level Increased concentration of cotinine in urine. hp0009lx5z 2018-05-18 17:47:54+00:00 Cotinine is the main metabolite of nicotine and accumulates in the body as a result of tobacco exposure. In humans, cotinine is excreted in the urine, mainly as trans-3[prime]-hydroxycotinine and glucuronide. This is used as a measure for exposure to tobacco smoke. owl:Class HP:0030279 biolink:NamedThing Hypoplastic L5 vertebral pedicle Underdeveloped pedicle of the fifth lumbar vertebra. hp0009lx5z UMLS:C4022539 owl:Class HP:0030594 biolink:NamedThing Abnormal automated kinetic perimetry test hp0009lx5z UMLS:C4073066 owl:Class HP:0010225 biolink:NamedThing Pseudoepiphysis of the 4th metacarpal The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. hp0009lx5z doelkens 2009-07-02T04:12:04Z UMLS:C4023959 human_phenotype owl:Class HP:0025460 biolink:NamedThing High myoinositol in brain by MRS An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z High myo-inositol in brain by MRS 2017-05-05 10:59:49+00:00 Myo-Inositol (MI) is one of the most abundant metabolites in the human brain located mainly in glial cells and functions as an osmolyte. The concentration of MI is altered in many brain disorders including Alzheimer's disease and brain tumors. HPO:probinson owl:Class HP:0006190 biolink:NamedThing Radially deviated wrists hp0009lx5z UMLS:C1861316 human_phenotype owl:Class HP:0001540 biolink:NamedThing Diastasis recti A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). hp0009lx5z Gap between large left and right abdominal muscles Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns. SNOMEDCT_US:62629000|UMLS:C0221766 human_phenotype owl:Class HP:0033762 biolink:NamedThing Middle cerebral artery stroke Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain. hp0009lx5z 2021-04-30 11:06:49+00:00 peter owl:Class HP:0033234 biolink:NamedThing Mesangial hyaline deposition Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. hp0009lx5z 2020-10-31 12:56:56+00:00 peter owl:Class HP:0033738 biolink:NamedThing Primary vesicoureteral reflux Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction. hp0009lx5z 2021-04-16 14:07:41+00:00 This term can be used together with a term to describe the grade of VUR. peter owl:Class HP:0031576 biolink:NamedThing Tessier number 4 facial cleft The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly. hp0009lx5z 2017-10-14 12:40:39+00:00 peter owl:Class HP:0040238 biolink:NamedThing Impaired neutrophil chemotaxis An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response hp0009lx5z Neutrophil migratory defect This term has been requested and created by members of the BRIDGE consortium UMLS:C4280709 owl:Class HP:0012905 biolink:NamedThing Euryblepharon Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. hp0009lx5z Kabuki syndrome eyelids The palpebral fissure length may be increased with an enlargement of the palpebral aperture. The lateral part is usually more everted defining euryblepharon. The whole length eversion of the lower lid defines congenital ectropion. Euryblepharon is characteristic of the Kabuki syndrome. peter 2014-06-23T11:43:42Z UMLS:C1303001|UMLS:C4280305|SNOMEDCT_US:400954002 human_phenotype owl:Class HP:0410166 biolink:NamedThing Defective interstrand cross-link repair A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. hp0009lx5z 2018-05-01 17:32:00+00:00 owl:Class HP:0020083 biolink:NamedThing Furuncle An infection of a hair follicle that extends subcutaneously, forming an abscess. hp0009lx5z Boil 2019-04-08 16:59:51+00:00 robinp owl:Class HP:0033021 biolink:NamedThing Transient decreased circulating IgE A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. hp0009lx5z Transient decreased IgE in blood peter owl:Class HP:0008801 biolink:NamedThing Hypoplasia of the lesser trochanter Underdevelopment of the lesser trochanter. hp0009lx5z Lesser trochanter hypoplasia UMLS:C1840062 human_phenotype owl:Class HP:0020190 biolink:NamedThing Perisylvian predominant thick cortex pachygyria Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. hp0009lx5z Pachygyria with cortical thickness > 10 mm perisylvian predominant robinp 2019-09-03 13:03:33+00:00 owl:Class HP:0033755 biolink:NamedThing Increased left ventricular end-diastolic volume Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). hp0009lx5z 2021-04-22 19:22:54+00:00 peter owl:Class HP:0030718 biolink:NamedThing Right atrial enlargement Increase in size of the right atrium. hp0009lx5z Enlarged heart right atrium|Right atrial dilatation|Dilated right atrium This feature can be appreciated on chext radiography, MRI, or CT. Fyler:1771|Fyler:2859|SNOMEDCT_US:67751000119106|UMLS:C0748427 owl:Class HP:0000253 biolink:NamedThing Progressive microcephaly Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. hp0009lx5z Progressively abnormally small skull|Progressively abnormally small cranium|Microcephaly, postnatal, progressive|Microcephaly, progressive UMLS:C1850456 human_phenotype owl:Class HP:0000319 biolink:NamedThing Smooth philtrum Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. hp0009lx5z Shallow philtrum|Philtrum, smooth|Indistinct philtrum|Simple philtrum|Flat philtrum|Decreased depth of philtrum There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. HP:0004663|HP:0000299|HP:0000323 UMLS:C1142533 human_phenotype owl:Class HP:0030040 biolink:NamedThing Fused lumbar vertebrae A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another. hp0009lx5z UMLS:C4022663 owl:Class HP:0025569 biolink:NamedThing Polypoidal choroidal vasculopathy The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization. hp0009lx5z 2017-12-14 13:39:58+00:00 The presence of choroidal polyps and BVN can lead to recurrent episodes of exudative retinal detachment, serous or hemorrhagic pigment epithelial detachment (PED), subretinal hemorrhage, and subretinal exudation. HPO:probinson owl:Class HP:0032083 biolink:NamedThing Aortic elastic fiber fragmentation Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers. hp0009lx5z Aortic elastic fibre fragmentation 2018-10-14 14:56:34+00:00 peter owl:Class HP:0011256 biolink:NamedThing Crus of helix connected to antihelix Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix. hp0009lx5z Helix, crus, connected to antihelix peter 2011-12-18T05:51:54Z UMLS:C4021184 human_phenotype owl:Class HP:0031730 biolink:NamedThing Axial myopia A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye. hp0009lx5z 2018-01-21 13:22:58+00:00 peter owl:Class HP:0012154 biolink:NamedThing Anhedonia Inability to experience pleasure activities usually found enjoyable. hp0009lx5z peter 2012-09-20T06:51:36Z SNOMEDCT_US:28669007|UMLS:C0178417|SNOMEDCT_US:247796005|MSH:D059445 owl:Class HP:0005968 biolink:NamedThing Temperature instability Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. hp0009lx5z Temperature instability|Body temperature instability UMLS:C3279038|UMLS:C1820737 owl:Class HP:0012695 biolink:NamedThing Decreased thalamic volume A reduction in the quantity of space occupied by the thalamus. hp0009lx5z peter 2014-03-22T05:48:28Z UMLS:C4022771 human_phenotype owl:Class HP:0031472 biolink:NamedThing Risk taking Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger. hp0009lx5z 2017-09-17 16:44:22+00:00 peter owl:Class HP:0032570 biolink:NamedThing Pontine ischemic lacunes Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons. hp0009lx5z Pontine ischaemic lacunes peter owl:Class HP:0031637 biolink:NamedThing Right coronary artery ostial atresia Absence of the normal opening of the coronary ostium from which the right main coronary artery originates. hp0009lx5z 2017-12-17 12:45:57+00:00 peter owl:Class HP:0011595 biolink:NamedThing Left aortic arch with retroesophageal right subclavian artery Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body. hp0009lx5z peter 2012-04-08T02:09:39Z UMLS:C4023278 human_phenotype owl:Class HP:0100408 biolink:NamedThing Complete duplication of the distal phalanx of the 4th toe Complete duplication of the distal phalanx of fourth toe. hp0009lx5z Complete duplication of the outermost bone of the 4th toe|Complete duplication of the distal phalanx of the fourth toe UMLS:C4020989 human_phenotype owl:Class HP:0030350 biolink:NamedThing Erythematous papule A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. hp0009lx5z Red-blue papule UMLS:C0747241 owl:Class HP:0031201 biolink:NamedThing Granular casts A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. hp0009lx5z 2017-06-27 11:06:58+00:00 It has been demonstrated that in patients with proteinuria, fine granules contain ultrafiltered proteins which have been reabsorbed by tubular cells, whilst in non-proteinuric patients coarse granules probably derive from the degeneration of cellular elements, such as leukocytes and renal epithelial cells present in the tubular lumen during cast formation. peter owl:Class HP:0000588 biolink:NamedThing Optic disc coloboma A cleft of the optic nerve that extends inferiorly. hp0009lx5z Optic disk coloboma|Optic nerve coloboma|Coloboma of optic nerve A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure. HP:0007997 SNOMEDCT_US:17541006|MSH:C535970|UMLS:C0155299|SNOMEDCT_US:44295002 owl:Class HP:0100599 biolink:NamedThing Bifid penis Two penile structures, separated from the tip to the base of the shaft. hp0009lx5z Diphallia|Penile duplication In individuals with complete duplication often one will find Hypospadias, Epispadias, Bladder exstrophy, or Bifid scrotum, which should be coded separately, as well as urinary tract duplications, renal anomalies, and gastrointestinal duplications. The terms indicate the presence of (part of) two penises, but do not indicate whether they are caused by splitting or double formation. doelkens 2010-12-27T05:17:57Z UMLS:C0345322|SNOMEDCT_US:253851000 human_phenotype owl:Class HP:0005595 biolink:NamedThing Generalized hyperkeratosis hp0009lx5z Hyperkeratosis, generalised|Hyperkeratosis, generalized|Generalised hyperkeratosis UMLS:C1969913 human_phenotype owl:Class HP:0003085 biolink:NamedThing Long fibula Disproportionately long fibulae. hp0009lx5z Disproportionately long fibula|Long calf bone|Long fibula UMLS:C1848109 human_phenotype owl:Class HP:0012468 biolink:NamedThing Chronic acidosis Longstanding abnormal acid accumulation or depletion of base. hp0009lx5z peter 2013-11-24T01:16:31Z UMLS:C1735903 human_phenotype owl:Class HP:0030754 biolink:NamedThing Allantoic cyst A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly. hp0009lx5z MSH:D014496|UMLS:C0041915|SNOMEDCT_US:17234001 owl:Class HP:0004825 biolink:NamedThing Increased hemoglobin oxygen affinity An abnormal increase in the binding affinity of hemoglobin for oxygen. hp0009lx5z Increased Hb oxygen affinity|Increased haemoglobin O2 affinity|Increased Hb O2 affinity|Increased haemoglobin oxygen affinity|Increased hemoglobin O2 affinity UMLS:C4021647 human_phenotype owl:Class HP:0005676 biolink:NamedThing Rudimentary postaxial polydactyly of hands hp0009lx5z UMLS:C4025158 human_phenotype owl:Class HP:0000042 biolink:NamedThing Absent external genitalia Lack of external genitalia in a male or female individual. hp0009lx5z Absent external genitalia UMLS:C1848869 human_phenotype owl:Class HP:0031883 biolink:NamedThing Increased proinsulin:insulin ratio An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation. hp0009lx5z 2018-05-07 10:24:19+00:00 peter owl:Class HP:0030661 biolink:NamedThing Vitreous snowballs Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery. hp0009lx5z Vitreous snowballs can be observed in intermediate uveitis. ORCID:0000-0003-0986-4123 SNOMEDCT_US:417393008|UMLS:C1563272 owl:Class HP:0025193 biolink:NamedThing Posterolateral diaphragmatic hernia A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity. hp0009lx5z Bochdalek hernia 2016-12-05 01:51:30+00:00 HPO:probinson owl:Class HP:0031523 biolink:NamedThing Salivary gland oncocytoma A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria) hp0009lx5z Parotid oncocytoma 2017-09-23 01:57:47+00:00 Most cases of salivary gland oncocytoma occur in the parotid gland. peter owl:Class HP:0004856 biolink:NamedThing Normochromic microcytic anemia A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. hp0009lx5z Normochromic microcytic anaemia SNOMEDCT_US:4984008|UMLS:C0271902 human_phenotype owl:Class HP:0007190 biolink:NamedThing Neuronal loss in the cerebral cortex hp0009lx5z UMLS:C1849485 human_phenotype owl:Class HP:0032639 biolink:NamedThing Elevated leukocyte cystine An increased concentration of cystine within white blood cells. hp0009lx5z peter owl:Class HP:0008573 biolink:NamedThing Low-frequency sensorineural hearing impairment A form of sensorineural hearing impairment that affects primarily the lower frequencies. hp0009lx5z Low-frequency sensorineural hearing loss UMLS:C3810445 human_phenotype owl:Class HP:0003278 biolink:NamedThing Square pelvis bone An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. hp0009lx5z Square pelvis bone|Squared off pelvis|Square pelvis UMLS:C1849953 human_phenotype owl:Class HP:0032321 biolink:NamedThing Unaffected This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded. hp0009lx5z 2019-02-14 11:48:40+00:00 peter owl:Class HP:0500089 biolink:NamedThing Optic nerve sheath meningioma A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2. hp0009lx5z 2018-03-20 20:36:12+00:00 owl:Class HP:0025087 biolink:NamedThing Delayed recoil upon stretching of skin Area of skin requiring an increased amount of time to return to its original shape after being stretched. hp0009lx5z 2016-10-15 14:50:00+00:00 see PMID:23919031 HPO:probinson owl:Class HP:0040284 biolink:NamedThing Very rare Present in 1% to 4% of the cases. hp0009lx5z Very rare (<4-1%)|Very rare (<4-1%) ORCID:0000-0002-5316-1399 ORPHA:453314 owl:Class HP:0020174 biolink:NamedThing Refractory drug response Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course. hp0009lx5z Drug resistance robinp 2019-07-06 21:47:57+00:00 owl:Class HP:0032272 biolink:NamedThing Elevated urinary N-acetylaspartic acid level Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. hp0009lx5z 2019-01-27 21:01:43+00:00 Although NAA concentration is also elevated in the blood and cerebrospinal fluid (CSF) of children with neonatal/infantile (severe) Canavan disease, elevated concentration of NAA in urine is sufficient for diagnosis of affected individuals. peter owl:Class HP:0003561 biolink:NamedThing Birth length less than 3rd percentile hp0009lx5z Birth length < 3rd percentile|Birth length <3rd percentile UMLS:C1855650 human_phenotype owl:Class HP:0025102 biolink:NamedThing Dysgenesis of the basal ganglia Structural abnormality of the basal ganglia related to defective development. hp0009lx5z Basal ganglia dysgenesis 2016-10-28 07:21:20+00:00 Note that the term basal ganglia dysgenesis is generally used to refer to a morphological abnormality of the basal ganglia that is of presumed developmental (rather than acquired) origin. HPO:probinson owl:Class HP:0011342 biolink:NamedThing Mild global developmental delay A mild delay in the achievement of motor or mental milestones in the domains of development of a child. hp0009lx5z Psychomotor retardation, mild|Global developmental delay, mild peter 2012-02-29T11:19:49Z UMLS:C2229182|UMLS:C4012968 human_phenotype owl:Class HP:0010882 biolink:NamedThing Pulmonary valve atresia A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. hp0009lx5z peter 2010-09-20T11:08:09Z SNOMEDCT_US:204342004|MSH:D018633|Fyler:1001|SNOMEDCT_US:448564004|UMLS:C0242855 human_phenotype owl:Class HP:0032092 biolink:NamedThing Left ventricular outflow tract obstruction Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. hp0009lx5z 2018-10-14 15:15:58+00:00 Common causes of left ventricular outflow tract (LVOT) obstruction include subaortic stenosis, bicupsid aortic valve, supravalvar aortic stenosis, coarctation of the aorta, and hypertrophic cardiomyopathy. Note that we reserve this term to describe the physiological abnormality, and denote the morphological abnormalities that lead to LVOT obstruction in the corresponding Morphology sections of the HPO. peter owl:Class HP:0006207 biolink:NamedThing Partial fusion of carpals hp0009lx5z UMLS:C1844519 human_phenotype owl:Class HP:0032995 biolink:NamedThing Decreased pulmonary fissure count Lack of one or more of the normal pulmonary fissures. hp0009lx5z Reduced pulmonary fissure count peter owl:Class HP:0007221 biolink:NamedThing Progressive truncal ataxia hp0009lx5z UMLS:C1849143 human_phenotype owl:Class HP:0011596 biolink:NamedThing Left aortic arch with right descending aorta and right ductus arteriosus The ring may be completed by the ductal ligament. hp0009lx5z peter 2012-04-08T02:10:48Z UMLS:C4023277 human_phenotype owl:Class HP:0032435 biolink:NamedThing Neonatal omphalitis An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. hp0009lx5z Omphalitis 2019-03-02 15:07:20+00:00 The umbilical cord stump then gradually dries and typically falls off within 5 to 15 days. Both skin and enteric bacteria may colonize the devitalized tissue of the stump and lead to infection. Omphalitis is, therefore, a polymicrobial infection and the most common pathogens are Staphylococcus aureus, Streptococcus pyogenes, and gram-negative bacteria such as Escherichia coli, Klebsiella pneumoniae, and Proteus mirabilis. peter owl:Class HP:0011870 biolink:NamedThing Impaired arachidonic acid-induced platelet aggregation Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. hp0009lx5z peter 2012-05-30T05:37:07Z UMLS:C4023155 human_phenotype owl:Class HP:0100304 biolink:NamedThing Muscle fiber intranuclear inclusion bodies The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. hp0009lx5z Muscle fibre intranuclear inclusion bodies doelkens 2010-08-10T02:39:22Z UMLS:C4022156 human_phenotype owl:Class HP:0011616 biolink:NamedThing Pulmonary situs inversus Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus. hp0009lx5z peter 2012-04-08T09:23:21Z UMLS:C4023270 human_phenotype owl:Class HP:0032456 biolink:NamedThing Unlayered lissencephaly A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter. hp0009lx5z 2019-03-08 11:17:49+00:00 peter owl:Class HP:0008483 biolink:NamedThing Cervical vertebral bodies with decreased anteroposterior diameter hp0009lx5z UMLS:C1847393 owl:Class HP:0006397 biolink:NamedThing Lateral displacement of patellae hp0009lx5z UMLS:C1860156 human_phenotype owl:Class HP:0031254 biolink:NamedThing Thalamic arteriovenous malformation An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus. hp0009lx5z 2017-08-12 15:44:28+00:00 peter owl:Class HP:0033145 biolink:NamedThing Increased circulating ceruloplasmin concentration Elevated concentration of ceruloplasmin in the blood circulation. hp0009lx5z 2020-09-15 11:16:39+00:00 peter owl:Class HP:0012741 biolink:NamedThing Unilateral cryptorchidism Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. hp0009lx5z Cryptorchidism, unilateral peter 2014-03-23T04:41:57Z SNOMEDCT_US:268227001|UMLS:C0431664|MSH:D003456 human_phenotype owl:Class HP:0033539 biolink:NamedThing Bilateral apical pulmonary fibrosis A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray. hp0009lx5z 2021-01-20 12:24:15+00:00 Bilateral apical fibrosis is a characteristic finding in ankylosing spondylitis. peter owl:Class HP:0011937 biolink:NamedThing Hypoplastic fifth toenail Underdeveloped nails of the fifth toes. hp0009lx5z Small fifth toenail|Underdeveloped fifth toenail peter 2012-06-10T04:27:42Z UMLS:C4023116 human_phenotype owl:Class HP:0001967 biolink:NamedThing Diffuse mesangial sclerosis Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. hp0009lx5z Mesangial sclerosis|Diffuse mesangial sclerosis glomerulopathy This finding can be demonstrated by renal biopsy. HP:0004728 SNOMEDCT_US:111406002|UMLS:C0268747|MSH:C537346 human_phenotype owl:Class HP:0010096 biolink:NamedThing Complete duplication of the distal phalanx of the hallux hp0009lx5z Complete duplication of the outermost bone of the big toe doelkens 2009-05-29T12:19:30Z UMLS:C4024051 human_phenotype owl:Class HP:0008138 biolink:NamedThing Equinus calcaneus Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. hp0009lx5z Equinus deformity of the calcaneus|Hindfoot equinus UMLS:C1860449 human_phenotype owl:Class HP:0010947 biolink:NamedThing Abnormality of ductus venosus blood flow A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus. hp0009lx5z The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. The typical abnormal finding in abnormal ductus venosus flow is a reversed a-wave. peter 2011-01-16T03:50:45Z UMLS:C4023632 human_phenotype owl:Class HP:0001545 biolink:NamedThing Anteriorly placed anus Anterior malposition of the anus. hp0009lx5z Anteriorly displaced anus|Anus anteposition UMLS:C1838705 human_phenotype owl:Class HP:0012220 biolink:NamedThing Non-caseating epithelioid cell granulomatosis The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). hp0009lx5z This feature is a hallmark of sarcoidosis. peter 2013-03-30T07:04:43Z UMLS:C4022999 human_phenotype owl:Class HP:0001151 biolink:NamedThing Impaired horizontal smooth pursuit An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. hp0009lx5z Impaired horizontal visual pursuit|Abnormal horizontal ocular pursuit UMLS:C1866753 human_phenotype owl:Class HP:0030970 biolink:NamedThing Abnormal vena cava physiology An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. hp0009lx5z 2017-04-18 13:41:37+00:00 robinp owl:Class HP:0005323 biolink:NamedThing Hemifacial hypertrophy Unilateral overgrowth of facial tissues, including muscles, bones and skin. hp0009lx5z Enlargement of half of face|Facial hemihyperplasia|Overgrowth of half of face|Facial hemihypertophy|Hypertrophy of half of face|Increase in size of half of face|Friedreich's disease|Hemifacial enlargement SNOMEDCT_US:697962004|SNOMEDCT_US:10394003|UMLS:C0016719|MSH:C563014|MSH:D005621|UMLS:C1399354 human_phenotype owl:Class HP:0410061 biolink:NamedThing Increased level of galactitol in plasma An increase in the level of galactitol in the plasma. hp0009lx5z 2018-01-29 22:37:31+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0031417 biolink:NamedThing Rhinorrhea Increased discharge of mucus from the nose. hp0009lx5z Runny Nose|Nasal Discharge 2017-09-12 02:06:56+00:00 peter owl:Class HP:0003898 biolink:NamedThing Large humeral epiphyses hp0009lx5z Large end part of long bone in upper arm UMLS:C4025522 human_phenotype owl:Class HP:0002340 biolink:NamedThing Caudate atrophy hp0009lx5z Caudate degeneration UMLS:C1858116 human_phenotype owl:Class HP:0032047 biolink:NamedThing Focal cortical dysplasia type I A type of focal cortical dysplasia that is characterized by abnormal cortical layering. hp0009lx5z 2018-09-16 11:00:11+00:00 peter owl:Class HP:0006184 biolink:NamedThing Decreased palmar creases Poorly defined or shallow palmar creases. hp0009lx5z Poorly formed palmar creases|Shallow palm line|Hypoplastic palmar creases|Shallow palmar creases HP:0006178 UMLS:C1857483 human_phenotype owl:Class HP:0003196 biolink:NamedThing Short nose Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. hp0009lx5z Shortened nose|Hypoplastic nose|Short nose|Nasal hypoplasia|Decreased length of nose|Small nose Note: a small nose has both decreased height and a decreased width. These should be coded separately. HP:0003192|HP:0000440|HP:0000450|HP:0200092|HP:0000449|HP:0003195|HP:0005270 UMLS:C1854114|UMLS:C0426414|SNOMEDCT_US:249310005 human_phenotype owl:Class HP:0006162 biolink:NamedThing Soft tissue swelling of interphalangeal joints hp0009lx5z Soft tissue swelling of hinge joints UMLS:C1854913 human_phenotype owl:Class HP:0100456 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 4th toe hp0009lx5z UMLS:C4022071 human_phenotype owl:Class HP:0010452 biolink:NamedThing Ectopia of the spleen An abnormal (non-anatomic) location of the spleen. hp0009lx5z Abnormal spleen location|Ectopic spleen peter 2009-09-14T10:51:09Z UMLS:C0266632|SNOMEDCT_US:65146007 human_phenotype owl:Class HP:0033714 biolink:NamedThing Multiple meningiomata The occurrence of multiple distinct meningiomas in the same individual. hp0009lx5z Multiple meningiomata|Multifocal meningiomata 2021-04-07 11:50:58+00:00 peter owl:Class HP:0031316 biolink:NamedThing Abnormal ventricular myocardium morphology A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle. hp0009lx5z 2017-08-27 11:43:31+00:00 peter owl:Class HP:0008167 biolink:NamedThing Very long chain fatty acid accumulation hp0009lx5z UMLS:C3279397 human_phenotype owl:Class HP:0007906 biolink:NamedThing Ocular hypertension Intraocular pressure that is 2 standard deviations above the population mean. hp0009lx5z Raised IOP|High eye pressure|Raised intraocular pressure|Increased intraocular pressure|Elevated IOP|Increased IOP|Elevated intraocular pressure SNOMEDCT_US:112222000|UMLS:C0234708 human_phenotype owl:Class HP:0002575 biolink:NamedThing Tracheoesophageal fistula An abnormal connection (fistula) between the esophagus and the trachea. hp0009lx5z Abnormal connection between trachea and esophagus|Abnormal connection between trachea and oesophagus SNOMEDCT_US:95435007|UMLS:C0040588|Fyler:4202|MSH:D014138|MEDDRA:10044310 human_phenotype owl:Class HP:0012058 biolink:NamedThing Nodular melanoma A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color. hp0009lx5z peter 2012-08-01T02:08:50Z UMLS:C0334424|SNOMEDCT_US:2142002|SNOMEDCT_US:254731001 human_phenotype owl:Class HP:0032215 biolink:NamedThing Disseminated cutaneous warts Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities. hp0009lx5z 2019-01-20 21:19:28+00:00 peter owl:Class HP:0005386 biolink:NamedThing Recurrent protozoan infections Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection. hp0009lx5z UMLS:C4025202 human_phenotype owl:Class HP:0032374 biolink:NamedThing Duffy Fya positivity Presence of the Duffy Fya antigen. hp0009lx5z 2019-02-24 13:40:29+00:00 peter owl:Class HP:0032373 biolink:NamedThing Duffy blood group The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-. hp0009lx5z 2019-02-24 13:37:17+00:00 FY has two major codominant alleles, FYA and FYB, which result from a SNP (125G>A), and the corresponding Fya and Fyb antigens differ by a single amino acid (G42D). Individuals who are homozygous for a -33T>C SNP in the erythroid promoter region of the FYB allele have the phenotype Fy(a-b-) and do not express Duffy antigens on their RBCs. peter owl:Class HP:0033362 biolink:NamedThing Recurrent coughing spasms Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing. hp0009lx5z 2020-12-16 11:33:03+00:00 peter owl:Class HP:0012832 biolink:NamedThing Bilateral Being present on both sides of the body. hp0009lx5z peter 2014-06-06T07:20:42Z SNOMEDCT_US:51440002|UMLS:C0238767 human_phenotype owl:Class HP:0030624 biolink:NamedThing Subretinal hyporeflective spaces on macular OCT hp0009lx5z UMLS:C4073094 owl:Class HP:0011005 biolink:NamedThing Mixed cirrhosis A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes. hp0009lx5z In mixed cirrhosis, there are regenerating nodules under and over 3 mm in size. peter 2011-02-17T09:01:14Z UMLS:C1392669 human_phenotype owl:Class HP:0033593 biolink:NamedThing Anti-H2A-H2B antibody positivity The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer. hp0009lx5z 2021-01-28 02:15:22+00:00 peter owl:Class HP:0011923 biolink:NamedThing Decreased activity of mitochondrial complex I A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. hp0009lx5z Respiratory complex I deficiency peter 2012-06-08T09:02:29Z UMLS:C2677650|UMLS:C4020739 human_phenotype owl:Class HP:0011105 biolink:NamedThing Hypervolemia An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood. hp0009lx5z Fluid overload in blood peter 2011-06-07T11:17:32Z SNOMEDCT_US:21639008|UMLS:C0546817 human_phenotype owl:Class HP:0011776 biolink:NamedThing Thyroid microfollicular adenoma hp0009lx5z peter 2012-04-22T06:01:48Z UMLS:C4023193 human_phenotype owl:Class HP:0005688 biolink:NamedThing Dysplastic distal thumb phalanges with a central hole hp0009lx5z UMLS:C4025153 human_phenotype owl:Class HP:0025324 biolink:NamedThing Arterial occlusion Blockage of blood flow through an artery. hp0009lx5z 2017-02-03 12:09:18+00:00 HPO:probinson owl:Class HP:0500157 biolink:NamedThing Hypoasparaginemia A decreased amount of asparagine in the blood. hp0009lx5z Decreased blood asparagine concentration|Low blood asparagine levels 2018-10-05 15:12:38+00:00 owl:Class HP:0032136 biolink:NamedThing Decreased circulating IgG1 level A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation. hp0009lx5z Decreased IgG1 level in blood 2018-11-22 14:29:21+00:00 peter owl:Class HP:0100783 biolink:NamedThing Breast aplasia Failure to develop and congenital absence of the breast. hp0009lx5z Congenital absence of breast|Absent breast|Mammary gland aplasia doelkens 2011-06-07T06:02:34Z SNOMEDCT_US:111324004|UMLS:C0266009 human_phenotype owl:Class HP:0000075 biolink:NamedThing Renal duplication A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. hp0009lx5z Extra kidney|Supernumerary kidney peter 2008-02-25T12:45:00Z UMLS:C0266298|SNOMEDCT_US:30275001 human_phenotype owl:Class HP:0003186 biolink:NamedThing Inverted nipples The presence of nipples that instead of pointing outward are retracted inwards. hp0009lx5z Inverted nipples|Invaginated nipples SNOMEDCT_US:82231009|UMLS:C0269269 human_phenotype owl:Class HP:0008651 biolink:NamedThing Uric acid urolithiasis independent of gout hp0009lx5z UMLS:C4024647 human_phenotype owl:Class HP:0004851 biolink:NamedThing Folate-responsive megaloblastic anemia A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. hp0009lx5z Folate-responsive megaloblastic anaemia UMLS:C2749656 human_phenotype owl:Class HP:0033985 biolink:NamedThing Elongated femoral neck Increased length of the neck of the femur. hp0009lx5z Long femoral neck 2021-07-15 11:54:11+00:00 peter owl:Class HP:0030273 biolink:NamedThing Reduced red cell adenosine deaminase level Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. hp0009lx5z UMLS:C4022544 owl:Class HP:0025040 biolink:NamedThing Thalamic edema Swelling within the thalamus due to the accumulation of fluid. hp0009lx5z Edema of the thalamus|Oedema of the thalamus|Thalamic oedema 2016-09-25 14:11:37+00:00 HPO:probinson owl:Class HP:0030936 biolink:NamedThing Abnormal layering of muscularis propria Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer. hp0009lx5z Muscularis propria malformation|Segmental additional circular muscle coat 2016-12-02 15:21:06+00:00 The intestinal muscularis propria is organized into discrete inner circular and outer longitudinal layers of muscle fibers that are oriented perpendicular to one another, except in the appendix, where the arrangement is more haphazard. The myenteric plexus of ganglia and nerves is sandwiched between the 2 muscle layers and is required for peristaltic activity. Maldevelopment or disruption of the neural or muscular elements can impair intestinal motility and cause intestinal pseudo-obstruction. This term refers to a malformation of the muscularis propria, with supernumerary and/or haphazard orientation of muscle fibers. robinp owl:Class HP:0500062 biolink:NamedThing Retinopathy of prematurity plus Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye. hp0009lx5z ROP plus 2018-02-19 20:17:35+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0033732 biolink:NamedThing Advanced sclerotic lupus nephritis A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity. hp0009lx5z Class VI lupus nephritis 2021-04-16 13:47:29+00:00 peter owl:Class HP:0011775 biolink:NamedThing Thyroid macrofollicular adenoma hp0009lx5z peter 2012-04-22T06:01:42Z UMLS:C4023194 human_phenotype owl:Class HP:0006571 biolink:NamedThing Reduced number of intrahepatic bile ducts The presence of reduced numbers of intrahepatic bile duct than normal. hp0009lx5z Hepatic ductopenia|Intrahepatic duct deficiency UMLS:C1861621|UMLS:C4021591 human_phenotype owl:Class HP:0031437 biolink:NamedThing Pregnancy exposure Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants. hp0009lx5z Exposure during pregnancy 2017-09-16 13:01:58+00:00 peter owl:Class HP:0004605 biolink:NamedThing Absent vertebral body mineralization A lack of bone mineralization of the vertebral bodies. hp0009lx5z UMLS:C1860191 human_phenotype owl:Class HP:0030892 biolink:NamedThing Deep cerebral white matter hyperdensities Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. hp0009lx5z Deep white matter hyperintensities|DWMH See also defintion for "Periventricular white matter hyperdensities". These two entities are in contra-distinction to each other. ORCID:0000-0002-5316-1399 owl:Class HP:0012634 biolink:NamedThing Iris pigment dispersion Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor. hp0009lx5z These pigment granules can accumulate in the trabucular meshwork and lead to increased intraocular pressure. That is coded separately as HP:001263. peter 2014-01-17T11:30:02Z UMLS:C4022813 human_phenotype owl:Class HP:0030157 biolink:NamedThing Flank pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank. hp0009lx5z Flank pain|Kidney pain The flank is the area on the side of the abdomen between the ribs and the hip. SNOMEDCT_US:247355005|MSH:D021501|UMLS:C0016199 owl:Class HP:0010040 biolink:NamedThing Aplasia of the 3rd metacarpal Absence of the third long bone of the hand. hp0009lx5z Absent 3rd long bone of hand doelkens 2009-05-27T04:36:08Z UMLS:C4024088 human_phenotype owl:Class HP:0004013 biolink:NamedThing Medially fused radial epiphyseal plates hp0009lx5z UMLS:C4025445 human_phenotype owl:Class HP:0004012 biolink:NamedThing Premature fusion of the radial epiphyseal plates A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone. hp0009lx5z The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. The growth plate has a very specific morphology in having a zonal arrangement. The growth plate includes a relatively inactive reserve zone at the epiphyseal end, moving distally into a proliferative and then hyper trophic zone and ending with a band of ossifying cartilage (the metaphysis). UMLS:C4025446 human_phenotype owl:Class HP:0030545 biolink:NamedThing Unaided visual acuity 1.0 LogMAR hp0009lx5z UMLS:C4073019 owl:Class HP:0005320 biolink:NamedThing Lack of facial subcutaneous fat hp0009lx5z Lack of facial fat below the skin UMLS:C3277426 human_phenotype owl:Class HP:0030499 biolink:NamedThing Macular drusen Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula. hp0009lx5z Lipid accumulation in macula UMLS:C0677628|SNOMEDCT_US:247154004 owl:Class HP:0040313 biolink:NamedThing Oligoarthritis A type of arthritis that affects up to four joints in the first six months of disease. hp0009lx5z owl:Class HP:0033269 biolink:NamedThing Glomerular capillary collapse Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). hp0009lx5z Collapse of glomerular capillary walls 2020-11-28 16:04:12+00:00 Wrinkling and folding of the glomerular basemement membrane (GBM) with partial or complete occlusion of the capillary lumen: wrinkling and folding of the GBM with partial or complete occlusion of the capillary lumen. The wrinkling is generally made by small and/or big irregular folds of the GBM. peter owl:Class HP:0003020 biolink:NamedThing Enlargement of the wrists hp0009lx5z Enlargement of the wrists UMLS:C1838663 human_phenotype owl:Class HP:0031235 biolink:NamedThing Predominantly epidermal neutrophilic infiltrate Collection of neutrophils in the epidermis. hp0009lx5z 2017-07-02 19:36:13+00:00 This feature can be seen in a variety of conditions ranging from inflammatory dermatosis like psoriasis, neonatal disorders e.g. transient neonatal pustular melanosis to neoplasms viz. keratoacanthoma. peter owl:Class HP:0002711 biolink:NamedThing Exaggerated median tongue furrow Increased depth of the median tongue furrow. hp0009lx5z Exaggerated median lingual furrow|Deep central tongue furrow|Deep central tongue groove|Deep median tongue furrow|Deep median lingual furrow|Deep central lingual groove|Deep median lingual groove|Deep median tongue groove|Deep central lingual furrow UMLS:C1845109 human_phenotype owl:Class HP:0010561 biolink:NamedThing Undulate ribs An abnormally wavy surface or edge of the ribs. hp0009lx5z Wavy ribs peter 2009-10-14T09:56:07Z UMLS:C1969185 human_phenotype owl:Class HP:0008222 biolink:NamedThing Female infertility hp0009lx5z Female infertility MSH:D007247|SNOMEDCT_US:6738008|UMLS:C0021361 human_phenotype owl:Class HP:0031388 biolink:NamedThing Megakaryocyte nucleus hyperlobulation The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus. hp0009lx5z 2017-09-02 16:40:09+00:00 A large megakaryocyte with a hyperlobulated nucleus is a cell that is larger than average size and has more nuclear lobulation than average. Some such megakaryocytes are seen in normal bone marrows but when they are present as an increased proportion they should be commented on. Increased numbers are seen sometimes in myelodysplastic syndrome but they are more frequent in myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and in MPN, particularly essential thrombocythemia. peter owl:Class HP:0012118 biolink:NamedThing Laryngeal carcinoma A carcinoma of the larynx. hp0009lx5z Cancer of the larynx|Laryngeal cancer Laryngeal carcinoma often is related to a history of smoking and may manifest by hoarseness, a lump in the neck, persistent cough, stridor and other symptoms. hecht 2012-09-16T05:28:05Z SNOMEDCT_US:276975007|UMLS:C0595989 human_phenotype owl:Class HP:0020097 biolink:NamedThing Infection due to encapsulated bacteria An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines. hp0009lx5z 2019-04-08 18:54:35+00:00 Encapsulated bacteria have been responsible for the majority of bacteremia and meningitis in children for many decades. In children aged over 3 months, Streptococcus pneumoniae (pneumococcus), Neisseria meningitidis (meningococcus), and Haemophilus influenzae have been the predominant pathogens, with H. influenzae being a less significant problem since the introduction of vaccines against type b organisms. Disease is most common in young children less than 5 years of age and older adults aged over 65 years. In neonates and young infants, Group B Streptococcus (GBS) is the major cause of bacteremia and meningitis. These organisms have the shared characteristic of being surrounded by a polysaccharide capsule, which is a key virulence factor because it helps the bacteria evade complement deposition and subsequent phagocytosis and killing. These polysaccharides have also been the basis for successful vaccines against all except GBS, because immune responses against the polysaccharide capsule are the primary mechanism of protection for the human host. Each species can be encapsulated by polysaccharides of different biochemical compositions, which has been used for categorization into capsular groups or serotypes. robinp owl:Class HP:0030924 biolink:NamedThing 5-minute APGAR score of 4 hp0009lx5z 2016-11-07 18:14:43+00:00 robinp owl:Class HP:0007482 biolink:NamedThing Generalized papillary lesions hp0009lx5z Generalised papillary lesions UMLS:C4024865 human_phenotype owl:Class HP:0011086 biolink:NamedThing Dentinogenesis imperfecta of primary and permanent teeth Developmental dysplasia of dentin or both the primary dentition and the permanent dentition. hp0009lx5z Dentinogenesis imperfecta of both sets of teeth|Dentinogenesis imperfecta of adult and baby teeth peter 2011-03-11T12:28:37Z UMLS:C4023539 human_phenotype owl:Class HP:3000020 biolink:NamedThing Abnormality of zygomaticus minor muscle An abnormality of a zygomaticus minor muscle. hp0009lx5z vasilevs 2015-08-07T00:15:45Z UMLS:C4073229 human_phenotype owl:Class HP:0008647 biolink:NamedThing Pubertal developmental failure in females hp0009lx5z UMLS:C4024649 human_phenotype owl:Class HP:0030522 biolink:NamedThing Mild constriction of peripheral visual field A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians. hp0009lx5z Mild peripheral visual field loss UMLS:C4072999 owl:Class HP:0001882 biolink:NamedThing Leukopenia An abnormal decreased number of leukocytes in the blood. hp0009lx5z Low white blood cell count|Decreased blood leukocyte number SNOMEDCT_US:84828003|MSH:D007970|UMLS:C0023530 owl:Class HP:0025154 biolink:NamedThing Portosystemic collateral veins Presence of biliary veins that serve as a collateral channel to the systemic circulation hp0009lx5z Collateral biliary circulation|Collateral biliary veins 2016-12-03 22:24:40+00:00 Venous blood returning from the small intestine, stomach, pancreas and spleen converges into the portal vein. The terminal branches of the hepatic portal vein and hepatic artery empty together and mix as they enter sinusoids in the liver. Conditions such as liver cirrhosis, in which scar tissue partially blocks the normal flow of blood, may increases the pressure in the portal vein (portal hypertension).When blood flow through a vessel or a vascular bed is obstructed due to occlusion, collateral pathways open up as blood bypasses the occlusion or obstruction, and this can lead to portosystemic collateral veins in the case of cirrhosis and some other hepatobiliary diseases. HPO:probinson owl:Class HP:0025269 biolink:NamedThing Panic attack A sudden episode of intense fear in a situation in which there is no danger or apparent cause. hp0009lx5z Panic attack 2016-12-18 13:34:22+00:00 The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some individuals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying. HPO:probinson owl:Class HP:0500151 biolink:NamedThing Hypercystinemia An increased amount of cystine in the blood. hp0009lx5z Increased blood cystine concentraions|High blood cystine levels 2018-10-04 14:59:26+00:00 owl:Class HP:0008075 biolink:NamedThing Progressive pes cavus The development of Pes cavus that is progressive with age. hp0009lx5z UMLS:C1846017 human_phenotype owl:Class HP:0007948 biolink:NamedThing Dense posterior cortical cataract A type of posterior cortical cataract characterized by dense lenticular opacities. hp0009lx5z UMLS:C4024767 human_phenotype owl:Class HP:0010924 biolink:NamedThing Posterior cortical cataract A cataract that affects the posterior part of the cortex of the lens. hp0009lx5z peter 2010-12-12T12:55:36Z UMLS:C4023650 human_phenotype owl:Class HP:0003980 biolink:NamedThing Pseudarthrosis of the radius hp0009lx5z UMLS:C4025466 human_phenotype owl:Class HP:0033327 biolink:NamedThing Nail psoriasis Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed. hp0009lx5z 2020-11-29 14:25:23+00:00 The prevalence of nail involvement in individuals with psoriasis is approximately 50%, with even higher prevalnce in individuals with psoriatic arthritis. peter owl:Class HP:0005557 biolink:NamedThing Abnormality of the zygomatic arch An abnormality of the zygomatic arch, also known as the cheek bone. hp0009lx5z Deformity of the malar arch|Malformation of the zygomatic arch|Malformation of the malar arch|Anomaly of the zygomatic arch|Deformity of the zygomatic arch|Abnormality of the malar arch|Anomaly of the malar arch The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone. peter 2008-03-27T10:20:00Z UMLS:C4025179 human_phenotype owl:Class HP:0031644 biolink:NamedThing Fusiform abdominal aortic aneurysm A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall hp0009lx5z 2017-12-17 14:14:11+00:00 peter owl:Class HP:0009058 biolink:NamedThing Increased muscle lipid content An abnormal accumulation of lipids in skeletal muscle. hp0009lx5z Fat accumulation in muscle fibers|Fat deposits in muscle fibers|Fat accumulation in muscle fibres|Skeletal muscle lipid accumulation|Fat deposits in muscle fibres|Increased muscle lipid content|Muscle lipidosis|Lipid accumulation in skeletal muscle Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy. HP:0100949 UMLS:C1837262 human_phenotype owl:Class HP:0011653 biolink:NamedThing Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. hp0009lx5z DORV with non-committed VSD and pulmonary stenosis peter 2012-04-09T10:06:15Z UMLS:C4023246 human_phenotype owl:Class HP:0100287 biolink:NamedThing EMG: slow motor conduction The presence of reduced conduction velocity of motor nerves on electromyography. hp0009lx5z doelkens 2010-08-10T01:11:48Z UMLS:C4022167 human_phenotype owl:Class HP:0006276 biolink:NamedThing Hyperechogenic pancreas hp0009lx5z UMLS:C1857945 human_phenotype owl:Class HP:0025255 biolink:NamedThing Ameliorated by pregnancy Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female. hp0009lx5z Pregnancy relieves symptoms 2016-12-17 14:19:29+00:00 HPO:probinson owl:Class HP:0000537 biolink:NamedThing Epicanthus inversus A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. hp0009lx5z SNOMEDCT_US:400956000|UMLS:C1303003 human_phenotype owl:Class HP:0004688 biolink:NamedThing Irregular tarsal bones hp0009lx5z Abnormal shape of ankle bones UMLS:C1855240 human_phenotype owl:Class HP:0031848 biolink:NamedThing Cock-walk gait An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor. hp0009lx5z 2018-05-05 15:45:59+00:00 peter owl:Class HP:0011944 biolink:NamedThing Small vessel vasculitis A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries. hp0009lx5z peter 2012-06-11T07:58:21Z UMLS:C4023113 human_phenotype owl:Class HP:0008668 biolink:NamedThing Gonadal dysgenesis, male Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation. hp0009lx5z 46,xy gonadal dysgenesis MSH:D006061|UMLS:C0018054 human_phenotype owl:Class HP:0001818 biolink:NamedThing Paronychia The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). hp0009lx5z UMLS:C0030578|MEDDRA:10034016|SNOMEDCT_US:71906005|MSH:D010304 human_phenotype owl:Class HP:0033504 biolink:NamedThing Elevated circulating fumarate concentration An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation. hp0009lx5z 2021-01-10 14:29:58+00:00 peter owl:Class HP:0009520 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 2nd finger A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. hp0009lx5z doelkens 2009-01-16T01:12:17Z UMLS:C4024313 human_phenotype owl:Class HP:0007585 biolink:NamedThing Skin fragility with non-scarring blistering hp0009lx5z UMLS:C1851562 human_phenotype owl:Class HP:0001030 biolink:NamedThing Fragile skin Skin that splits easily with minimal injury. hp0009lx5z Fragile skin|Skin fragility MEDDRA:10040851|SNOMEDCT_US:247427007|UMLS:C0241181 human_phenotype owl:Class HP:0006279 biolink:NamedThing Beta-cell dysfunction hp0009lx5z UMLS:C1969875 human_phenotype owl:Class HP:0500170 biolink:NamedThing Abnormal concentration of acylcarnitine in the urine An abnormal amount of acylcarnitine in the urine. hp0009lx5z 2018-11-05 19:19:05+00:00 Combined, the total daily bile and urine production of acylcarnitine is <200 micromol. owl:Class HP:0003749 biolink:NamedThing Pelvic girdle muscle weakness Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. hp0009lx5z Hip-girdle muscle weakness|Pelvic girdle weakness|Hip girdle weakness|Hip girdle muscle weakness HP:0008999|HP:0003692|HP:0009036 SNOMEDCT_US:249941003|UMLS:C0427064 human_phenotype owl:Class HP:0012251 biolink:NamedThing ST segment elevation An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. hp0009lx5z ST segment elevation may have multiple causes including myocardial infaction, left ventricular aneurysm, and hyperkalemia. peter 2013-04-07T09:03:06Z UMLS:C0520886|SNOMEDCT_US:76388001|SNOMEDCT_US:164931005 human_phenotype owl:Class HP:0003510 biolink:NamedThing Severe short stature A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. hp0009lx5z Short stature, severe|Short stature, extreme|Proportionate dwarfism|Dwarfism|Severe short stature The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm). HP:0008920|HP:0008907|HP:0001424|HP:0008884|HP:0001516|HP:0008867|HP:0003504|HP:0008930 MSH:D004392|SNOMEDCT_US:422065006|UMLS:C0013336|SNOMEDCT_US:237836003|SNOMEDCT_US:237837007 human_phenotype owl:Class HP:0033300 biolink:NamedThing Increased circulating complement factor H related protein 1 concentration Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation. hp0009lx5z 2020-11-28 21:57:41+00:00 peter owl:Class HP:0011048 biolink:NamedThing Agenesis of permanent mandibular central incisor Agenesis of lower secondary incisor. hp0009lx5z Failure of development of permanent mandibular central incisor|Absence of permanent mandibular central incisor|Missing adult lower central incisor|Absence of permanent lower central incisor|Absence of permanent lower front tooth|Agenesis of adult mandibular central incisor|Missing permanent lower front tooth|Missing permanent lower central incisor|Missing permanent mandibular central incisor peter 2011-03-10T11:16:08Z UMLS:C4023569|UMLS:C4280354 human_phenotype owl:Class HP:0004885 biolink:NamedThing Episodic respiratory distress hp0009lx5z respiratory distress, episodic|Episodic difficulty breathing UMLS:C1844945 human_phenotype owl:Class HP:0006573 biolink:NamedThing Acute hepatic steatosis An acute form of hepatic steatosis. hp0009lx5z Acute fatty liver UMLS:C4025020 human_phenotype owl:Class HP:0011345 biolink:NamedThing Moderate expressive language delay A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. hp0009lx5z peter 2012-03-01T08:45:49Z UMLS:C3532933|SNOMEDCT_US:62211000119103 owl:Class HP:0003108 biolink:NamedThing Hyperglycinuria An increased concentration of glycine in the urine. hp0009lx5z High urine glycine levels|Glycinuria Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours. HP:0002931 SNOMEDCT_US:236477004|MSH:C563009|UMLS:C0341706|UMLS:C0543541 human_phenotype owl:Class HP:0031120 biolink:NamedThing Bicuspid aortic valve with right-noncoronary cusp fusion A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure. hp0009lx5z 2017-06-10 12:00:04+00:00 peter owl:Class HP:0000941 biolink:NamedThing Short diaphyses hp0009lx5z Short shaft of long bone UMLS:C4025815 human_phenotype owl:Class HP:0033416 biolink:NamedThing Hip adductor weakness Reduced ability to bring the leg toward the midline of the body. hp0009lx5z 2021-01-09 16:43:25+00:00 peter owl:Class HP:0032646 biolink:NamedThing Renal interstitial xanthogranulomatous inflammation Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. hp0009lx5z peter owl:Class HP:0032298 biolink:NamedThing Increased circulating IgG1 level An abnormally increased concentration of the IgG1 subtype in the blood circulation. hp0009lx5z 2019-02-12 22:52:27+00:00 Antibody responses to soluble protein antigens and membrane proteins primarily induce IgG1, but are accompanied with lower levels of the other subclasses, mostly IgG3 and IgG4. Because IgG1 is normally the most abundant subclass, a lack of IgG1 seen in a variety of primary and secondary antibody deficiencies, can result in decreased total IgG levels (hypogammaglobulinemia). IgG1 deficiencies, sometimes in combination with other IgG subclass deficiencies, are associated with recurrent infections. peter owl:Class HP:0032050 biolink:NamedThing Focal cortical dysplasia type Ic A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination. hp0009lx5z 2018-09-16 11:06:34+00:00 peter owl:Class HP:0032049 biolink:NamedThing Focal cortical dysplasia type Ib A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination. hp0009lx5z 2018-09-16 11:05:32+00:00 peter owl:Class HP:0030138 biolink:NamedThing Excessive bleeding from superficial cuts An abnormally increased degree of bleeding following a superfical injury to the surface of the skin. hp0009lx5z Excessive bleeding from superficial cuts UMLS:C4022610 owl:Class HP:0025180 biolink:NamedThing Centrilobular ground-glass opacification on pulmonary HRCT A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules. hp0009lx5z Centrilobular groundglass opacification|Centrilobular groundglass opacity 2016-12-04 19:57:32+00:00 HPO:probinson owl:Class HP:0025179 biolink:NamedThing Ground-glass opacification On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. hp0009lx5z Ground-glass opacification on pulmonary HRCT 2016-12-04 19:55:32+00:00 Ground-glass opacification is a non-specific sign and can be observed with many conditions including infection, chronic interstitial disease and acute alveolar disease. See Figure 2 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. HPO:probinson owl:Class HP:0006989 biolink:NamedThing Dysplastic corpus callosum Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. hp0009lx5z Dysplasia of corpus callosum|Dysgenesis of corpus callosum HP:0006996 UMLS:C0431369 human_phenotype owl:Class HP:0011828 biolink:NamedThing Midline sinus of philtrum Pit in the midline of the philtral groove. hp0009lx5z Philtrum, Midline Sinus|Central sinus of philtrum Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. peter 2012-05-01T10:36:55Z UMLS:C4021116 human_phenotype owl:Class HP:0033819 biolink:NamedThing Perilymphatic Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel). hp0009lx5z 2021-05-09 12:19:16+00:00 peter owl:Class HP:0008330 biolink:NamedThing Reduced von Willebrand factor activity Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. hp0009lx5z Decreased von willebrand factor activity Von Willebrand factor (VWF) is a key hemostatic protein, but documenting its function through laboratory tests is not always straightforward. VWF serves as a carrier protein for factor VIII (FVIII), and also facilitates platelet adhesion through its interaction with platelet GPIb on the platelet surface and through its binding to the subendothelial matrix. This interaction is driven in vivo by shear stress, which induces a conformational change in VWF that allows it to bind platelet GPIb. In vitro, however, this interaction is induced by the antibiotic ristocetin, which enables VWF and platelet GPIb to interact in the absence of shear forces. Laboratory testing of VWF utilizes ristocetin in the VWF ristocetin cofactor activity assay (VWF:RCo), which is a measure of VWF binding to platelets, or by ristocetin-induced platelet aggregation (RIPA). UMLS:C4024701 human_phenotype owl:Class HP:0000804 biolink:NamedThing Xanthine nephrolithiasis The presence of xanthine-containing calculi (stones) in the kidneys. hp0009lx5z Xanthine stones|Urinary xanthine stones UMLS:C1848431 human_phenotype owl:Class HP:0003348 biolink:NamedThing Hyperalaninemia An increased concentration of alanine in the blood. hp0009lx5z Increased serum alanine|Increased blood alanine This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter. UMLS:C1839424|UMLS:C0268630|UMLS:C1849489|SNOMEDCT_US:2359002|MSH:C562684 human_phenotype owl:Class HP:0011343 biolink:NamedThing Moderate global developmental delay A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. hp0009lx5z Global developmental delay, moderate|Psychomotor retardation, moderate peter 2012-02-29T11:20:28Z UMLS:C2237142 human_phenotype owl:Class HP:0005325 biolink:NamedThing Extension of hair growth on temples to lateral eyebrow A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows. hp0009lx5z Unusual hairline with hair growth on temples extending to lateral eyebrow UMLS:C1857455 owl:Class HP:0001245 biolink:NamedThing Small thenar eminence Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. hp0009lx5z Hypoplastic thenar eminences|Thenar hypoplasia|Thenar muscle hypoplasia|Decreased thenar eminence The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally. HP:0006188 UMLS:C1846474 human_phenotype owl:Class HP:0002174 biolink:NamedThing Postural tremor A type of tremors that is triggered by holding a limb in a fixed position. hp0009lx5z Tremor, postural HP:0006925|HP:0007197 SNOMEDCT_US:56610005|UMLS:C0234378|MSH:D014202 human_phenotype owl:Class HP:0033681 biolink:NamedThing Oligodendroglioma Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG. hp0009lx5z 2021-03-06 13:09:34+00:00 peter NCIT:C3288 owl:Class HP:0012861 biolink:NamedThing Ovotestis A gonad that contains both ovarian follicles and testicular tubular elements. hp0009lx5z An ovotestis is usually observed to have connective tissue separating the ovarian components from the testicular components, but ovarian and testicular elements may be intermixed. hecht 2014-06-09T09:48:37Z SNOMEDCT_US:18978002|MSH:D050090|UMLS:C0266361 human_phenotype owl:Class HP:0030486 biolink:NamedThing Abnormal timing of pattern electroretinogram hp0009lx5z UMLS:C4072976 owl:Class HP:0032589 biolink:NamedThing Renal lymphocytic tubulitis Infiltration of the renal tubular epithelium by lymphocytes. hp0009lx5z peter owl:Class HP:0033759 biolink:NamedThing Impaired renal tubular reabsorption of magnesium Decreased renal tubular reabsorption of magnesium. hp0009lx5z 2021-04-28 13:05:35+00:00 96% of filtered magnesium is reabsorbed in the tubule. 10%-30% of the filtered magnesium is absorbed in the proximal tubule, the thick ascending limb absorbs 40%-70% of filtered magnesium. peter owl:Class HP:0009622 biolink:NamedThing Distally placed thumb Insertion of thumb at a more distal location than normal. hp0009lx5z doelkens 2009-01-29T04:40:23Z HP:0005755 UMLS:C4024270 human_phenotype owl:Class HP:0025489 biolink:NamedThing Bladder duplication A congenital anomaly characterized by the presence of two bladders. hp0009lx5z 2017-05-14 17:16:59+00:00 HPO:probinson owl:Class HP:0033240 biolink:NamedThing Elevated RV/TLC ratio An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation. hp0009lx5z Overinflation on pulmonary function test|Hyperinflation on pulmonary function test 2020-11-24 10:58:46+00:00 peter owl:Class HP:0002141 biolink:NamedThing Gait imbalance hp0009lx5z Abnormality of equilibrium|Abnormality of balance|Imbalanced walk HP:0100683 UMLS:C1836150 human_phenotype owl:Class HP:0031732 biolink:NamedThing Increased basal tear production A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance. hp0009lx5z 2018-01-21 13:29:32+00:00 peter owl:Class HP:0006371 biolink:NamedThing Broad long bone diaphyses Increased width of the diaphysis of long bones. hp0009lx5z Broad shaft of long bone|Wide shaft of long bone UMLS:C4025053 human_phenotype owl:Class HP:0031091 biolink:NamedThing Toe dactylitis Toes appear swollen and plump owing to inflammation of the complete toe. hp0009lx5z Sausage toes 2017-05-29 01:00:10+00:00 peter owl:Class HP:0010422 biolink:NamedThing Complete duplication of the proximal phalanx of the 2nd toe Complete duplication of proximal phalanx of second toe. hp0009lx5z Complete duplication of the innermost 2nd toe bone|Complete duplication of the proximal phalanx of the second toe doelkens 2009-07-16T12:56:56Z UMLS:C4021271 human_phenotype owl:Class HP:0010599 biolink:NamedThing Abnormality of the distal humeral epiphysis Any abnormality of the distal epiphysis of the humerus. hp0009lx5z Abnormality of the end part of the outermost long bone in upper arm sandra1 2009-10-22T06:40:29Z UMLS:C4023774 human_phenotype owl:Class HP:0012082 biolink:NamedThing Cerebellar Purkinje layer atrophy Atrophy of the cerebellum affecting primarily the Purkinje cell layer. hp0009lx5z peter 2012-08-18T05:31:43Z UMLS:C4023053 owl:Class HP:0032895 biolink:NamedThing Febrile seizure outside the age of 3 months to 6 years Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure. hp0009lx5z Some but not all people with the epilepsy syndrome of Febrile Seizures Plus have these types of seizures. peter owl:Class HP:0033550 biolink:NamedThing Necrotizing pulmonary granulomatosis A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese. hp0009lx5z Caseating pulmonary granulomatosis 2021-01-22 12:12:26+00:00 In hematoxylin and eosin stain staining, necrotizing pulmonary granulomatosis is characterized by acellular pink areas of necrosis surrounded by a granulomatous inflammatory process. peter owl:Class HP:0010533 biolink:NamedThing Spasmus nutans The combination of pendular nystagmus, head nodding, and torticollis. hp0009lx5z peter 2009-09-20T09:19:57Z MSH:D013036|SNOMEDCT_US:18191000|UMLS:C0546878 human_phenotype owl:Class HP:0012882 biolink:NamedThing Hyperplastic labia majora Overgrowth of the outer labia. hp0009lx5z Enlarged labia majora|Hyperplasia of labia majora hecht 2014-06-11T07:54:42Z UMLS:C4021060 human_phenotype owl:Class HP:0030583 biolink:NamedThing Pinhole visual acuity 3.0 LogMAR hp0009lx5z UMLS:C4073056 owl:Class HP:0031322 biolink:NamedThing Myocardial lymphocytic infiltration An increase in the number of lymphocytes in myocardial tissue. hp0009lx5z 2017-08-27 12:08:10+00:00 peter owl:Class HP:0410290 biolink:NamedThing Positive urine norpropoxyphene test Detection of norpropoxyphene in urine. hp0009lx5z 2019-01-28 20:20:19+00:00 owl:Class HP:0012119 biolink:NamedThing Methemoglobinemia Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues. hp0009lx5z hecht 2012-09-16T05:42:35Z MSH:D008708|SNOMEDCT_US:131171006|UMLS:C0025637|SNOMEDCT_US:38959009 human_phenotype owl:Class HP:0200114 biolink:NamedThing Metabolic alkalosis Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process. hp0009lx5z sebastiankohler 2013-06-05T12:33:28Z UMLS:C0220983|SNOMEDCT_US:1388004 owl:Class HP:0003286 biolink:NamedThing Cystathioninemia An increased concentration of cystathionine in the blood. hp0009lx5z High blood cystathionine levels Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma. UMLS:C0268618|SNOMEDCT_US:6669004 human_phenotype owl:Class HP:0100435 biolink:NamedThing Bullet-shaped middle phalanx of the 4th toe An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped middle bone of the 4th toe UMLS:C4022092 human_phenotype owl:Class HP:0010463 biolink:NamedThing Aplasia of the ovary Aplasia, that is failure to develop, of the ovary. hp0009lx5z Aplasia of the ovaries|Bilateral absent ovaries|Absent ovary peter 2009-09-15T08:40:06Z SNOMEDCT_US:12017008|UMLS:C0266368 human_phenotype owl:Class HP:0010825 biolink:NamedThing Abnormality of the eleventh cranial nerve Abnormality of the eleventh cranial nerve. hp0009lx5z Abnormality of cranial nerve XI|Abnormality of the accessory nerve peter 2010-07-10T03:54:53Z UMLS:C4021225 human_phenotype owl:Class HP:5000024 biolink:NamedThing Anti-mGluR1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1). hp0009lx5z Anti-metabotropic glutamate receptor 1 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0031628 biolink:NamedThing Aborted sudden cardiac death Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. hp0009lx5z Sudden cardiac arrest 2017-12-17 00:22:44+00:00 peter owl:Class HP:0410329 biolink:NamedThing Gluten allergy Hypersensitivity in form of an adverse immune reaction against gluten. hp0009lx5z Gluten allergy|IgE-mediated gluten allergy|Immunoglobulin E-mediated gluten allergy|Allergy to gluten A gluten allergy is usually distinct from gluten sensitivity or Celiac disease. owl:Class HP:0033683 biolink:NamedThing Jaw hyperreflexia Increased intensity of muscle tendon reflexes in jaw. hp0009lx5z Brisk jaw jerk 2021-03-06 13:25:00+00:00 peter owl:Class HP:0012221 biolink:NamedThing Pretibial blistering A type of blistering that affects the skin of the tibial region. hp0009lx5z Pretibial epidermolysis bullosa peter 2013-03-30T07:10:17Z SNOMEDCT_US:67653003|UMLS:C0432321|MSH:C535494 owl:Class HP:0020210 biolink:NamedThing Praxis-induced seizure A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making. hp0009lx5z robinp 2020-02-24 13:41:45+00:00 owl:Class HP:0008660 biolink:NamedThing Renotubular dysgenesis A developmental defect characterized by absence or poor development of proximal renal tubules. hp0009lx5z Renal tubular dysgenesis Renotubular dysgenesis is generally accompanied by early onset and persistent oligohydramnios that leads to the Potter sequence. MSH:C537048|UMLS:C0266313|SNOMEDCT_US:702397002 human_phenotype owl:Class HP:0033400 biolink:NamedThing Acute abdomen A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction. hp0009lx5z Acute abdominal pain 2021-01-09 14:55:42+00:00 peter owl:Class HP:0032532 biolink:NamedThing Elevated CSF 4-hydroxybutyric acid concentration Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF). hp0009lx5z Elevated CSF gamma-hydroxybutyric acid|Elevated CSF GHB levels 2019-05-27 13:00:12+00:00 peter owl:Class HP:0010987 biolink:NamedThing Abnormal cellular immune system morphology An abnormality of the morphology or counts of the cells that make up the immune system. hp0009lx5z peter 2011-02-08T12:49:47Z UMLS:C4023612 human_phenotype owl:Class HP:0100816 biolink:NamedThing Lip hyperpigmentation hp0009lx5z Hyperpigmentation of lip vermillion|Increased pigmentation on the lips|Darkening of skin of the lips doelkens 2011-06-09T02:18:39Z UMLS:C4021963 human_phenotype owl:Class HP:0003225 biolink:NamedThing Reduced coagulation factor V activity Decreased activity of coagulation factor V. hp0009lx5z Factor V deficiency|Reduced factor V activity Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. SNOMEDCT_US:4320005|UMLS:C0015499|SNOMEDCT_US:88776002|MSH:D005166 human_phenotype owl:Class HP:0005756 biolink:NamedThing Neonatal epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. hp0009lx5z Epiphyseal stippling in neonates|Speckled calcifications in bone end parts in neonates UMLS:C4021623 human_phenotype owl:Class HP:0010219 biolink:NamedThing Structural foot deformity A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies. hp0009lx5z doelkens 2009-06-04T05:14:38Z UMLS:C4023965 human_phenotype owl:Class HP:0410236 biolink:NamedThing Increased anti-venom IgE antibody level Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets. hp0009lx5z 2018-10-03 22:40:21+00:00 owl:Class HP:0032545 biolink:NamedThing Abdominal rigidity Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area. hp0009lx5z Rigid abdomen 2019-06-12 10:23:20+00:00 peter owl:Class HP:0007965 biolink:NamedThing Undetectable visual evoked potentials hp0009lx5z Undetectable VEP|Absence of visual evoked potentials|Non-detectable VEP UMLS:C1850069 human_phenotype owl:Class HP:0010523 biolink:NamedThing Alexia An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read. hp0009lx5z Text blindness|Word blindness Note that dyslexia refers to a developmental reading disability, whereas alexi arefers to an acquired reading disability related to damage to the brain in an individual in whom reading ability had previously been developed. peter 2009-09-20T11:27:07Z MSH:D004410|SNOMEDCT_US:9236007|UMLS:C0002018 human_phenotype owl:Class HP:0005606 biolink:NamedThing Hyperpigmented nevi and streak hp0009lx5z UMLS:C3805692 human_phenotype owl:Class HP:0004606 biolink:NamedThing Unossified vertebral bodies A lack of ossification of the vertebral bodies. hp0009lx5z HP:0008427 UMLS:C1860202 human_phenotype owl:Class HP:0020159 biolink:NamedThing Reduced response to gonadotropin-releasing hormone stimulation test Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels. hp0009lx5z Reduce response to GnRH stimulation test robinp 2019-07-06 19:39:36+00:00 owl:Class HP:0008082 biolink:NamedThing Medial deviation of the foot hp0009lx5z UMLS:C2673401 human_phenotype owl:Class HP:0031170 biolink:NamedThing Female fetal virilization Fetal masculinization of female external genitalia. hp0009lx5z Female foetal virilization 2017-06-18 19:57:35+00:00 This anomaly can be observed with etiologies including 21-hydroxylase deficiency, pregnancy luteomas, and maternal intake of progesterones. peter owl:Class HP:0005659 biolink:NamedThing Thoracic kyphoscoliosis hp0009lx5z UMLS:C4015465 human_phenotype owl:Class HP:0030097 biolink:NamedThing Absent muscle dystrophin expression Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. hp0009lx5z UMLS:C4022647 owl:Class HP:0005638 biolink:NamedThing Decreased anterioposterior diameter of lumbar vertebral bodies hp0009lx5z UMLS:C4025168 human_phenotype owl:Class HP:0009158 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 5th finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. hp0009lx5z Enlarged end part of the innermost bone of pinky finger|Enlarged end part of the innermost bone of pinkie finger|Enlarged end part of the innermost bone of little finger peter 2008-12-22T05:50:39Z UMLS:C4024566 human_phenotype owl:Class HP:0100315 biolink:NamedThing Lewy bodies hp0009lx5z Lewy body disease doelkens 2010-08-10T03:32:14Z SNOMEDCT_US:80098002|UMLS:C0085200|UMLS:C0752347|SNOMEDCT_US:43127003|MSH:D020961|MSH:D016631|SNOMEDCT_US:312991009 human_phenotype owl:Class HP:0001139 biolink:NamedThing Choroideremia hp0009lx5z SNOMEDCT_US:75241009|UMLS:C0008525|MSH:D015794 human_phenotype owl:Class HP:0009907 biolink:NamedThing Attached earlobe Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. hp0009lx5z Attached earlobe|Adherent earlobe The earlobe does not have a dependent portion. peter 2009-05-01T02:57:50Z UMLS:C4021375 human_phenotype owl:Class HP:0012803 biolink:NamedThing Anisometropia Inequality of refractive power of the two eyes. hp0009lx5z hecht 2014-05-25T03:05:21Z MSH:D015858|SNOMEDCT_US:3289004|UMLS:C0003081 human_phenotype owl:Class HP:0003274 biolink:NamedThing Hypoplastic acetabulae Underdeveloped acetabulae. hp0009lx5z Hypoplastic acetabula|Acetabular hypoplasia UMLS:C1846442 human_phenotype owl:Class HP:0012505 biolink:NamedThing Enlarged pituitary gland An abnormally increased size of the pituitary gland. hp0009lx5z peter 2013-11-30T09:36:45Z UMLS:C0342422|SNOMEDCT_US:237718009 human_phenotype owl:Class HP:0007824 biolink:NamedThing Total ophthalmoplegia Paralysis of both the extrinsic and intrinsic ocular muscles. hp0009lx5z Global paralysis of gaze|Complete ophthalmoplegia|Total internal and external ophthalmoplegia SNOMEDCT_US:78097002|UMLS:C0155338 human_phenotype owl:Class HP:0000216 biolink:NamedThing Broad secondary alveolar ridge hp0009lx5z Secondary alveolar ridges UMLS:C1839276 human_phenotype owl:Class HP:0032666 biolink:NamedThing Hyperkinetic status epilepticus Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements. hp0009lx5z In 2015 the ILAE classified hyperkinetic status epilepticus separately from focal motor status epilepticus characterized by elemental motor features. Awareness may be intact or impaired. peter owl:Class HP:0011223 biolink:NamedThing Metopic depression Linear vertical groove in the midline of the forehead, extending from hairline to glabella. hp0009lx5z Depression of metopic cranial suture|Depression of frontal cranial suture|Frontal suture depression peter 2011-12-07T10:34:38Z UMLS:C4023454 human_phenotype owl:Class HP:0012498 biolink:NamedThing Nuchal cord A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times. hp0009lx5z peter 2013-11-30T08:32:27Z UMLS:C0405124|MSH:D053589|SNOMEDCT_US:302929008 human_phenotype owl:Class HP:0002289 biolink:NamedThing Alopecia universalis Loss of all hair on the entire body. hp0009lx5z Alopecia, complete|Universal alopecia HP:0004550 SNOMEDCT_US:86166000|UMLS:C0263505|MSH:C537055 human_phenotype owl:Class HP:0040050 biolink:NamedThing Sparse upper eyelashes hp0009lx5z Hypotrichosis of upper eyelashes|Sparse upper eyelashes|Partial absence of upper eyelashes HPO:skoehler UMLS:C4022468 owl:Class HP:0002497 biolink:NamedThing Spastic ataxia hp0009lx5z MSH:C564815|UMLS:C1849156 human_phenotype owl:Class HP:0003967 biolink:NamedThing Sclerotic forearm bones hp0009lx5z Increased bone density of forearm bones UMLS:C4025472 human_phenotype owl:Class HP:0001983 biolink:NamedThing Reduced lymphocyte surface expression of CD43 A reduction in the expression of CD43 on the cell surface of lymphocytes. hp0009lx5z Reduced lymphocyte surface expression of sialophorin|Cd43 defectively expressed on surface of blood cells CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes. UMLS:C4021766 human_phenotype owl:Class HP:0005247 biolink:NamedThing Hypoplasia of the abdominal wall musculature Underdevelopment of the abdominal musculature. hp0009lx5z Abdominal muscular hypoplasia UMLS:C3279407 human_phenotype owl:Class HP:0011184 biolink:NamedThing EEG with hyperventilation-induced generalized epileptiform discharges Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). hp0009lx5z EEG with hyperventilation-induced generalised epileptiform discharges hecht 2011-11-19T10:37:49Z UMLS:C4023489 human_phenotype owl:Class HP:0025072 biolink:NamedThing Prominent U wave Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave. hp0009lx5z Increased U wave amplitude 2016-09-26 10:42:48+00:00 HPO:probinson owl:Class HP:0006849 biolink:NamedThing Hypodysplasia of the corpus callosum hp0009lx5z UMLS:C1850348 human_phenotype owl:Class HP:0003089 biolink:NamedThing Hamstring contractures hp0009lx5z Hamstring contractures UMLS:C0410266|SNOMEDCT_US:203074005 human_phenotype owl:Class HP:0100308 biolink:NamedThing Cerebral cortical hemiatrophy Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle. hp0009lx5z doelkens 2010-08-10T02:52:37Z UMLS:C4022153 human_phenotype owl:Class HP:0002654 biolink:NamedThing Multiple epiphyseal dysplasia hp0009lx5z SNOMEDCT_US:59708000|UMLS:C0026760|MSH:D010009 human_phenotype owl:Class HP:0004049 biolink:NamedThing Decreased carpal angles of wrist hp0009lx5z UMLS:C4025416 human_phenotype owl:Class HP:0033767 biolink:NamedThing Abnormal single motor unit action potential Abnormally high or low single motor unit action potential reading (-Pk Amps). hp0009lx5z 2021-04-30 11:50:43+00:00 peter owl:Class HP:0030031 biolink:NamedThing Small toe Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual. hp0009lx5z Small toe This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered. UMLS:C4022667 owl:Class HP:0011552 biolink:NamedThing Ambiguous atrioventricular connection With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle). hp0009lx5z Ambiguous atrioventricular connexion peter 2012-04-07T11:33:24Z SNOMEDCT_US:253278008|UMLS:C0344617 human_phenotype owl:Class HP:4000007 biolink:NamedThing Bronchoconstriction Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. hp0009lx5z Constriction of the bronchi|Bronchial constriction 2021-04-25 23:21:45+00:00 robinp owl:Class HP:0031341 biolink:NamedThing Gastric arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach. hp0009lx5z 2017-08-27 13:53:06+00:00 peter owl:Class HP:0033663 biolink:NamedThing Air trapping Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse. hp0009lx5z 2021-02-27 14:37:46+00:00 Differentiation from areas of decreased attenuation resulting from hypoperfusion as a consequence of an occlusive vascular disorder (eg, chronic thromboembolism) may be problematic, but other findings of airways versus vascular disease are usually present. See Figure 4 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0006366 biolink:NamedThing Adductor longus contractures hp0009lx5z UMLS:C1859524 human_phenotype owl:Class HP:0007680 biolink:NamedThing Depigmented fundus hp0009lx5z UMLS:C4024816 owl:Class HP:0007880 biolink:NamedThing Marginal corneal dystrophy hp0009lx5z UMLS:C4024779 human_phenotype owl:Class HP:0005548 biolink:NamedThing Megakaryocytopenia A reduced count of megakaryocytes. hp0009lx5z Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes. UMLS:C1858312 human_phenotype owl:Class HP:0040321 biolink:NamedThing Dark yellow urine An abnormal dark-yellow color of the urine. hp0009lx5z http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean ORCID:0000-0002-5316-1399 owl:Class HP:0010968 biolink:NamedThing Abnormality of liposaccharide metabolism An abnormality of liposaccharide metabolism. hp0009lx5z peter 2011-01-27T09:22:56Z UMLS:C4023622 human_phenotype owl:Class HP:0007258 biolink:NamedThing Severe demyelination of the white matter A severe loss of myelin from nerve fibers in the central nervous system. hp0009lx5z UMLS:C1856001 human_phenotype owl:Class HP:0003131 biolink:NamedThing Cystinuria An increased concentration of cystine in the urine. hp0009lx5z High urine cystine levels Cystine is a sulfur-containing amino acid. SNOMEDCT_US:85020001|UMLS:C0010691|MSH:D003555 human_phenotype owl:Class HP:0011057 biolink:NamedThing Agenesis of second permanent molar Agenesis of either mandibular second permanent molar or maxillary second permanent molar. hp0009lx5z Missing twelve year molar|Failure of development of twelve year molar|Agenesis of twelve year molar|Absence of second permanent molar|Absence of twelve year molar|Failure of development of second permanent molar|Missing second permanent molar peter 2011-03-10T11:47:58Z UMLS:C4280257|UMLS:C4023561 human_phenotype owl:Class HP:0030732 biolink:NamedThing Dysplastic tricuspid valve A congenital malformation of the tricuspid valve characterized by leaflet deformation. hp0009lx5z Tricuspid valve dysplasia Malformations of the tricuspid valve include a wide range of morphologic features that can be divided into two main groups: those in which the primary lesion is downward displacement of the basal attachment of the mural and septal (or both) leaflets, known as Ebstein's malformation (1), and those without downward displacement but with deformation of the leaflets and the tension apparatus, an arrangement described as dysplasia. In severe cases of dysplasia, the tricuspid valve orifice may become unguarded. Although there is a broad morphologic spectrum, these malformations lead to the same hemodynamic burden, namely, tricuspid regurgitation (TR) and its pathophysiological sequelae. UMLS:C4255215 owl:Class HP:0003564 biolink:NamedThing Folate-dependent fragile site at Xq28 The presence of a folate sensitive fragile site at chromosome Xq28. hp0009lx5z Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA). UMLS:C1839785 human_phenotype owl:Class HP:0007944 biolink:NamedThing Intermittent microsaccadic pursuits hp0009lx5z UMLS:C4024768 human_phenotype owl:Class HP:0002211 biolink:NamedThing White forelock A triangular depigmented region of white hairs located in the anterior midline of the scalp. hp0009lx5z White part of hair above forehead|Poliosis of forelock hair|Poliosis of anterior hair SNOMEDCT_US:247564004|UMLS:C0344312 human_phenotype owl:Class HP:0004575 biolink:NamedThing Fusion of midcervical facet joints hp0009lx5z UMLS:C1847394 human_phenotype owl:Class HP:0033242 biolink:NamedThing Horseshoe lung A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac. hp0009lx5z 2020-11-24 11:39:51+00:00 peter owl:Class HP:0009291 biolink:NamedThing Aplasia of the distal phalanx of the 4th finger Absence of the distal phalanx of the ring (4th) finger. hp0009lx5z Absent outermost bone of ring finger doelkens 2009-01-08T04:00:27Z UMLS:C4024465 human_phenotype owl:Class HP:0010839 biolink:NamedThing Increased urinary copper concentration An increased concentration of copper in the urine. hp0009lx5z Increased urinary copper concentration peter 2010-07-10T07:44:50Z UMLS:C4023688 human_phenotype owl:Class HP:0000868 biolink:NamedThing Decreased fertility in females hp0009lx5z Decreased fertility in females|Reduced fertility in females UMLS:C0151639 human_phenotype owl:Class HP:0011327 biolink:NamedThing Posterior plagiocephaly Asymmetry of the posterior part of the skull. hp0009lx5z Occipital plagiocephaly|Deformational posterior plagiocephaly Anterior plagiocephaly may have synostotic or non-synostotic causes. peter 2012-02-25T02:11:33Z UMLS:C4021160 human_phenotype owl:Class HP:0005572 biolink:NamedThing Decreased renal tubular phosphate excretion hp0009lx5z UMLS:C1968899 human_phenotype owl:Class HP:0031901 biolink:NamedThing Elevated total serum tryptase An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. hp0009lx5z 2018-05-19 15:17:36+00:00 Tryptase is a serine protease that is primarily produced and stored in mast cells (MCs) and less abundantly in blood basophils [31-34]. In tissue MCs, tryptase is produced and released in a constitutive manner, regardless of the organ, location of MCs, maturation stage or subtype of MCs. Mature tissue MCs also store larger quantities of the enzyme in their metachromatic granules. Two major forms of tryptase are produced in MCs, alpha-tryptase and beta-tryptase. Whereas the alpha form is produced and released constantly in MCs, the beta-form is primarily stored in MC granules. During an anaphylactic reaction, MCs rapidly release substantial amounts of alpha- and beta tryptases. Current tests measure total tryptase (alpha and beta), not differentiating between these isoforms. The presence of elevated tryptase may occur acutely due to mast cell degranulation. Alternatively, chronic elevation of basal serum tryptase may be present in individuals with: 1) clonal myeloid neoplasms; 2) the genetic trait hereditary alpha-tryptasemia; 3) chronic kidney disease. Serum tryptase levels are useful in the diagnosis of mast cell activation, clonal myeloid disease, and hereditary alpha-tryptasemia. peter HP:0031900 owl:Class HP:0008909 biolink:NamedThing Lethal short-limbed short stature hp0009lx5z Lethal micromelic dwarfism|Lethal short-limbed dwarfism HP:0003506 UMLS:C2674171 human_phenotype owl:Class HP:0005207 biolink:NamedThing Gastric hypertrophy Hypertrophy of the stomach. hp0009lx5z Increased stomach size UMLS:C4280502|UMLS:C1834341 human_phenotype owl:Class HP:0100409 biolink:NamedThing Complete duplication of the distal phalanx of the 5th toe Complete duplication of the distal phalanx of little toe. hp0009lx5z Complete duplication of the outermost bone of the pinky toe|Complete duplication of the outermost bone of the pinkie toe|Complete duplication of the outermost bone of the little toe|Complete duplication of the distal phalanx of the fifth toe UMLS:C4020988 human_phenotype owl:Class HP:0100487 biolink:NamedThing Triangular shaped distal phalanx of the 5th toe hp0009lx5z Triangular shaped outermost bone of the little toe|Triangular shaped outermost bone of the pinkie toe|Triangular shaped outermost bone of the pinky toe UMLS:C4022044 human_phenotype owl:Class HP:0004405 biolink:NamedThing Prominent nipples hp0009lx5z Prominent nipples peter 2008-03-18T09:19:00Z UMLS:C1855513 human_phenotype owl:Class HP:0002465 biolink:NamedThing Poor speech hp0009lx5z Problems speaking|Difficulty speaking|Poor speech UMLS:C1848207|UMLS:C4280574 owl:Class HP:0012582 biolink:NamedThing Bilateral renal dysplasia A bilateral form of developmental dysplasia of the kidney. hp0009lx5z peter 2014-01-16T03:14:35Z UMLS:C0431698|SNOMEDCT_US:204950001 human_phenotype owl:Class HP:0410168 biolink:NamedThing Abnormality of the back musculature Any abnormality of the back muscles. hp0009lx5z Muscle issues in the back 2018-05-01 17:38:59+00:00 owl:Class HP:0011219 biolink:NamedThing Short face Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective). hp0009lx5z Vertical shortening of face|Short facies|Vertical Facial Deficiency|Decreased height of face|Vertical insufficiency of face|Vertical facial insufficiency|Decreased vertical dimension of face|Vertical deficiency of face|Vertical hypoplasia of face|Short face|Decreased length of face Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face. peter 2011-12-07T09:01:18Z UMLS:C4023457 human_phenotype owl:Class HP:0011671 biolink:NamedThing Interrupted inferior vena cava with azygous continuation Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. hp0009lx5z peter 2012-04-09T12:04:06Z ICD-10:26.8|UMLS:C4023237 human_phenotype owl:Class HP:0012898 biolink:NamedThing Abnormal lower-limb motor evoked potentials An anomaly identified by motor evoked potentials (MEPs) in the leg. hp0009lx5z Abnormal motor evoked potentials in the lower limb peter 2014-06-23T11:09:22Z UMLS:C4021058 human_phenotype owl:Class HP:0000349 biolink:NamedThing Widow's peak Frontal hairline with bilateral arcs to a low point in the midline of the forehead. hp0009lx5z Hairline peak|V-shaped frontal hairline|Pointed frontal hairline|Hairline point|Pointed hairline at front of head|Widow's peak The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline. HP:0004544 UMLS:C1853486 owl:Class HP:0008073 biolink:NamedThing Low maternal serum estriol An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age. hp0009lx5z Low maternal serum estriol UMLS:C4024734 human_phenotype owl:Class HP:0003785 biolink:NamedThing Decreased CSF homovanillic acid Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. hp0009lx5z UMLS:C4280803 human_phenotype owl:Class HP:0006696 biolink:NamedThing Polymorphic and polytopic ventricular extrasystoles hp0009lx5z UMLS:C4024998 human_phenotype owl:Class HP:0006682 biolink:NamedThing Ventricular extrasystoles Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. hp0009lx5z Missed heartbeat|Premature ventricular contractions|Skipped heartbeat|Extra heart beat A premature ventricular contraction may be perceived as a skipped beat or as palpitations. HP:0006678 SNOMEDCT_US:251175005|MSH:D018879|UMLS:C0151636|SNOMEDCT_US:17338001 human_phenotype owl:Class HP:0005720 biolink:NamedThing Shortening of all metacarpals Abnormal reduction in length of all metacarpal bones. hp0009lx5z UMLS:C4025149 human_phenotype owl:Class HP:0009539 biolink:NamedThing Contracture of the metacarpophalangeal joint of the 2nd finger Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue. hp0009lx5z doelkens 2009-01-21T10:11:49Z UMLS:C4024301 human_phenotype owl:Class HP:0100275 biolink:NamedThing Diffuse cerebellar atrophy Diffuse unlocalised atrophy affecting the cerebellum. hp0009lx5z doelkens 2010-08-02T01:22:19Z HP:0006928 UMLS:C1854699 owl:Class HP:0030068 biolink:NamedThing Olfactory esthesioneuroblastoma A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. hp0009lx5z SNOMEDCT_US:422886007|UMLS:C0206717|SNOMEDCT_US:68614005|SNOMEDCT_US:76060004|MSH:D018304 owl:Class HP:0033404 biolink:NamedThing Intestinal ischemia Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain. hp0009lx5z 2021-01-09 15:23:20+00:00 peter owl:Class HP:0025500 biolink:NamedThing Class II obesity Obesity with a body mass index of 35 to 39.9 kg per square meter. hp0009lx5z Obesity grade 2 2017-05-14 20:08:43+00:00 HPO:probinson owl:Class HP:0001065 biolink:NamedThing Striae distensae Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. hp0009lx5z Stretch marks|Striae|Striae cutis distensae|Striae atrophicae|Purplish striae HP:0001023|HP:0100680|HP:0001066 SNOMEDCT_US:201067006|SNOMEDCT_US:47212006|UMLS:C0152459|MEDDRA:10040925|MSH:D057896|SNOMEDCT_US:201066002 human_phenotype owl:Class HP:0010814 biolink:NamedThing Abnormal position of hair whorl Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. hp0009lx5z Abnormal location of hair swirl|Abnormal position of hair whorl Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls. peter 2010-07-05T11:13:42Z UMLS:C4023694 human_phenotype owl:Class HP:0009209 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 5th finger Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. hp0009lx5z Increased bone density of end part of the middle bone of little finger|Increased bone density of end part of the middle bone of pinkie finger|Increased bone density of end part of the middle bone of pinky finger doelkens 2009-01-05T05:22:18Z UMLS:C4024531 human_phenotype owl:Class HP:0006368 biolink:NamedThing Forearm reduction defects hp0009lx5z UMLS:C1849327 human_phenotype owl:Class HP:0006717 biolink:NamedThing Peripheral neuroepithelioma hp0009lx5z SNOMEDCT_US:254764001|UMLS:C3489398 human_phenotype owl:Class HP:0009026 biolink:NamedThing Hypoplasia of latissimus dorsi muscle Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula. hp0009lx5z UMLS:C3805860 human_phenotype owl:Class HP:0033028 biolink:NamedThing Anti-ribonucleoprotein antibody positivity The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. Comment: High titers of anti-RNP antibodies are diagnostic of mixed connective tissue disorder (MCTD). Anti-RNP antibodies can also be found in patients with systemic lupus erythematosus (SLE). hp0009lx5z Anti-Scl-34 antibody positivity|Anti-U3 ribonucleoprotein antibody positivity|Anti-RNP-antibodies peter owl:Class HP:0041223 biolink:NamedThing Fractured metatarsal bone of digit 5 A partial or complete breakage of the metatarsal bone of digit 5. hp0009lx5z bone metatarsal bone of digit 5 owl:Class HP:0030207 biolink:NamedThing Paradoxical respiration Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing. hp0009lx5z Flail chest|Paradoxical breathing UMLS:C0231852|SNOMEDCT_US:78011002|UMLS:C0016196|SNOMEDCT_US:12025005|MSH:D005409 owl:Class HP:0005681 biolink:NamedThing Juvenile rheumatoid arthritis hp0009lx5z Juvenile RA|Juvenile idiopathic arthritis|Rheumatoid arthritis, juvenile SNOMEDCT_US:410795001|UMLS:C3714757 human_phenotype owl:Class HP:0001370 biolink:NamedThing Rheumatoid arthritis Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. hp0009lx5z Rheumatoid arthritis|RA SNOMEDCT_US:69896004|MSH:D001172|UMLS:C0003873 human_phenotype owl:Class HP:0000188 biolink:NamedThing Short upper lip Decreased width of the upper lip. hp0009lx5z Decreased height of upper lip|Short upper lip|Vertical deficiency of upper lip|Shortening of upper lip|Decreased vertical length of upper lip|Decreased upper labial length|Decreased upper labial height HP:0200087 UMLS:C1848977 human_phenotype owl:Class HP:0200161 biolink:NamedThing Agenesis of mandibular incisor hp0009lx5z Absence of mandibular incisor|Absence of lower incisor|Missing lower front tooth|Failure of development of mandibular incisor|Missing lower incisor|Absence of lower front tooth|Agenesis of lower incisor UMLS:C4021876|UMLS:C3150012|UMLS:C4280277 owl:Class HP:0003877 biolink:NamedThing Oval transradiancy of humerus hp0009lx5z Humeral oval transradiancy UMLS:C4025534 human_phenotype owl:Class HP:0003763 biolink:NamedThing Bruxism Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep. hp0009lx5z Teeth grinding SNOMEDCT_US:90207007|SNOMEDCT_US:191983006|MSH:D002012|UMLS:C0006325 human_phenotype owl:Class HP:0007799 biolink:NamedThing Conjunctival whitish salt-like deposits The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. hp0009lx5z UMLS:C1968901 human_phenotype owl:Class HP:0012561 biolink:NamedThing Unicuspid aortic valve The presence of an aortic valve with one instead of the normal three cusps (flaps). hp0009lx5z The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. Unicuspid aortic valve (UAV) shares many of the features of bicuspid aortic valve, including valvular dysfunction, aortic dilatation, aortic dissection, and dystrophic calcification, although these conditions develop at an earlier age and progress at a faster pace in UAV. peter 2014-01-08T08:14:15Z UMLS:C0345001|SNOMEDCT_US:253610004 human_phenotype owl:Class HP:0032921 biolink:NamedThing Focal impaired awareness pedal automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. hp0009lx5z peter owl:Class HP:0031300 biolink:NamedThing Abnormal circulating properdin level A deviation from the normal concentration of properdin in the blood. hp0009lx5z 2017-08-13 22:01:48+00:00 There are three pathways of complement activation, the classical pathway, lectin pathway, and alternative pathway. Each generates a C3 convertase, a serine protease that cleaves the central complement protein, C3. Nearly all the biological consequences of complement are dependent on the resulting cleavage products. Properdin is a positive regulator of complement activation that stabilizes the alternative pathway convertases (C3bBb). Properdin is composed of multiple identical protein subunits, with each subunit carrying a separate ligand-binding site. peter owl:Class HP:0030171 biolink:NamedThing Perirenal hematoma A collection of clotted blood surrounding the kidney. hp0009lx5z The causes of a spontaneous perirenal hematoma (SPH) include immunologic disorders, neoplasms (renal cell carcinomas and adenomas), and collagen vascular diseases, but the main cause of a secondary perirenal hematoma is traumatic injury. SNOMEDCT_US:197824007|UMLS:C0473124 owl:Class HP:0008039 biolink:NamedThing Subepithelial corneal opacities hp0009lx5z UMLS:C1857307 human_phenotype owl:Class HP:0025355 biolink:NamedThing Retinal arterial macroaneurysms Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative. hp0009lx5z 2017-02-13 00:33:08+00:00 Retinal arterial macroaneurysms can be visualized on fundoscopy and by fluorescein angiography or spectral-domain optical coherence tomography. HPO:probinson owl:Class HP:0012854 biolink:NamedThing Midshaft hypospadias Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis. hp0009lx5z hecht 2014-06-08T10:57:24Z UMLS:C4022708 human_phenotype owl:Class HP:0025163 biolink:NamedThing Abnormality of optic chiasm morphology A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves. hp0009lx5z 2016-12-04 13:12:19+00:00 HPO:probinson owl:Class HP:0025114 biolink:NamedThing Hypergranulosis Hypergranulosis is an increased thickness of the stratum granulosum. hp0009lx5z 2016-11-01 01:48:14+00:00 Note that the epidermis includes five main layers: the stratum corneum, stratum lucidium, stratum granulosum, stratum spinosum, and stratum germinativum. This term refers to thickening that primarily affects the stratum granulosum. HPO:probinson owl:Class HP:0011697 biolink:NamedThing Supraventricular tachycardia with a manifest accessory pathway on the right free wall hp0009lx5z peter 2012-04-10T10:59:00Z UMLS:C4023225 human_phenotype owl:Class HP:0030477 biolink:NamedThing Abnormal timing of dark-adapted bright flash electroretinogram hp0009lx5z UMLS:C4072967 owl:Class HP:0009067 biolink:NamedThing Progressive spinal muscular atrophy Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. hp0009lx5z Progressive spinal muscle wasting|Progressive spinal muscle degeneration UMLS:C4082951 human_phenotype owl:Class HP:0009555 biolink:NamedThing Hypoplasia of the pharynx Underdevelopment of the pharynx. hp0009lx5z Decreased width of pharynx|Hypotrophic pharynx|Decreased volume of pharynx|Decreased size of pharynx|Decreased diameter of pharynx|Underdevelopment of pharynx|Small pharynx|Decreased length of pharynx peter 2009-01-21T05:24:16Z UMLS:C4280398|UMLS:C4280396|UMLS:C4280397|UMLS:C4280400|UMLS:C4024295|UMLS:C4280399 human_phenotype owl:Class HP:0011259 biolink:NamedThing Expanded terminal portion of crus of helix Widening, rather than tapering, of the crus at its posterior border near the antihelix. hp0009lx5z Helix, crus, expanded terminal portion peter 2011-12-18T06:00:07Z UMLS:C4021181 human_phenotype owl:Class HP:0030222 biolink:NamedThing Visual agnosia Difficulty in recognizing objects by visual input in absence of sensorial visual impairment. hp0009lx5z UMLS:C0234502|SNOMEDCT_US:25762009|MSH:D000377 owl:Class HP:0004053 biolink:NamedThing Dysharmonic maturation of the hand bones Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand. hp0009lx5z Disharmonic maturation of the hand bones|Dysharmonic ossification of the hand bones HP:0006204 UMLS:C4021685 human_phenotype owl:Class HP:0009002 biolink:NamedThing Loss of truncal subcutaneous adipose tissue Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. hp0009lx5z Loss of truncal adipose tissue|Loss of fat tissue in trunk|Loss of subcutaneous truncal adipose tissue HP:0008989 UMLS:C1835384 human_phenotype owl:Class HP:0033865 biolink:NamedThing Medullary peritubular capillaritis Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. hp0009lx5z 2021-06-23 17:47:37+00:00 peter owl:Class HP:0007609 biolink:NamedThing Hypoproteinemic edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia). hp0009lx5z Hypoproteinemic oedema UMLS:C4024832 human_phenotype owl:Class HP:0033292 biolink:NamedThing Glomerular fibrin thrombus An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. hp0009lx5z 2020-11-28 21:27:52+00:00 peter owl:Class HP:0005991 biolink:NamedThing Limited neck flexion Reduced abilty to lower the chin towards the chest by bending the neck. hp0009lx5z Limited cervical flexion|Limited neck flexibility UMLS:C1864449 owl:Class HP:0009565 biolink:NamedThing Aplasia of the distal phalanx of the 2nd finger hp0009lx5z Absent terminal index finger phalanx|Absent outermost index finger bone doelkens 2009-01-28T04:20:22Z HP:0005748|HP:0004141 UMLS:C4021439 human_phenotype owl:Class HP:0011950 biolink:NamedThing Bronchiolitis Inflammation of the bronchioles. hp0009lx5z peter 2012-06-21T08:36:11Z MSH:D001988|UMLS:C0006271|SNOMEDCT_US:4120002 owl:Class HP:0002790 biolink:NamedThing Neonatal breathing dysregulation hp0009lx5z Impaired breathing in newborn UMLS:C3806216 human_phenotype owl:Class HP:0030149 biolink:NamedThing Cardiogenic shock Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. hp0009lx5z Cardiovascular shock Cardiogenic shock can result from a number of different of cardiac insults, the most common of which is acute myocardial infarction. UMLS:C0036980|SNOMEDCT_US:89138009|MSH:D012770 owl:Class HP:0006518 biolink:NamedThing Pulmonary venous occlusion Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. hp0009lx5z Pulmonary venous stenosis|Pulmonary venoocclusive disease|Pulmonary venous occlusion This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterised by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary oedema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnoea, fatigue and cough. SNOMEDCT_US:89420002|UMLS:C4280802|UMLS:C0034091|Fyler:3002|MSH:D011668 human_phenotype owl:Class HP:0025349 biolink:NamedThing Limbal edema Swelling of the margin of the cornea overlapped by the sclera. hp0009lx5z Limbal oedema 2017-02-12 23:59:31+00:00 HPO:probinson owl:Class HP:0006465 biolink:NamedThing Periosteal thickening of long tubular bones Thickening of the periosteum of long bone. hp0009lx5z UMLS:C1834345 human_phenotype owl:Class HP:0003716 biolink:NamedThing Generalized muscular appearance from birth hp0009lx5z Generalised muscular appearance from birth UMLS:C1837799 human_phenotype owl:Class HP:0400001 biolink:NamedThing Chin with vertical crease Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest. hp0009lx5z Vertical chin skin cleft|Chin with vertical groove|Chin with vertical sulcus|Chin with vertical crease|Chin, vertical crease|Chin with vertical furrow|Cleft chin|Vertical menton crease The vertical shape must be distinguished from H-shaped crease of the chin. UMLS:C4020916 owl:Class HP:0500060 biolink:NamedThing Retinopathy of prematurity zone II Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata. hp0009lx5z ROP zone II 2018-02-19 19:52:54+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0011943 biolink:NamedThing Increased urinary thiosulfate Increased concentration of thiosulfate(2-) in the urine. hp0009lx5z peter 2012-06-11T07:37:29Z UMLS:C3148695 human_phenotype owl:Class HP:0010486 biolink:NamedThing Abnormality of the hypothenar eminence An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). hp0009lx5z peter 2009-09-16T10:38:43Z UMLS:C4023807 human_phenotype owl:Class HP:0045029 biolink:NamedThing Eosinophilic fasciitis Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues. hp0009lx5z HPO:skoehler SNOMEDCT_US:24129002|MSH:C562487|UMLS:C0264005 owl:Class HP:0003704 biolink:NamedThing Scapuloperoneal weakness hp0009lx5z Neurogenic scapuloperoneal syndrome UMLS:C1842161 human_phenotype owl:Class HP:0012526 biolink:NamedThing Absence of alpha granules A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. hp0009lx5z Gray platelets|Grey platelets peter 2013-12-15T08:57:46Z UMLS:C4022864 owl:Class HP:0041082 biolink:NamedThing Fractured skull A partial or complete breakage of the skull. hp0009lx5z bone skull owl:Class HP:0012308 biolink:NamedThing Decreased serum complement C9 A reduced level of the complement component C9 in circulation. hp0009lx5z Decreased serum C9 peter 2013-08-10T11:07:25Z UMLS:C4021093 human_phenotype owl:Class HP:0033492 biolink:NamedThing Podocyte cytoskeletal condensation Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. hp0009lx5z 2021-01-10 13:12:40+00:00 peter owl:Class HP:0032405 biolink:NamedThing Increased urinary phosphoserine level An increased level of phosphoserine in the urine. hp0009lx5z Increased level of phosphoserine in urine 2019-02-24 20:26:16+00:00 O-phosphoserine is a serine derivative that is serine substituted at the oxygen atom by a phosphono group. peter owl:Class HP:0041071 biolink:NamedThing Transient decreased circulating IgG3 A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation. hp0009lx5z Transient decreased IgG3 in blood owl:Class HP:0007526 biolink:NamedThing Hypopigmented skin patches on arms hp0009lx5z Hypopigmented skin patches on arms|Patchy loss of skin colour on arms|Patchy loss of skin color on arms UMLS:C4024852 human_phenotype owl:Class HP:0003426 biolink:NamedThing First dorsal interossei muscle atrophy hp0009lx5z UMLS:C1832278 human_phenotype owl:Class HP:0002572 biolink:NamedThing Episodic vomiting Paroxysmal, recurrent episodes of vomiting. hp0009lx5z Episodic vomiting|Frequent vomiting UMLS:C1857202|UMLS:C1838993 human_phenotype owl:Class HP:0008942 biolink:NamedThing Acute rhabdomyolysis An acute form of rhabdomyolysis. hp0009lx5z Rhabdomyolysis, acute UMLS:C3807306 human_phenotype owl:Class HP:0002831 biolink:NamedThing Long coccyx hp0009lx5z Long tailbone UMLS:C3277116 human_phenotype owl:Class HP:0030412 biolink:NamedThing Ileal adenocarcinoma A malignant epithelial tumor with a glandular organization that originates in the ileum. hp0009lx5z UMLS:C4072936|NCIT:C2852 human_phenotype owl:Class HP:0025260 biolink:NamedThing Stiff wrist A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity. hp0009lx5z Wrist stiffness|Stiff wrist 2016-12-18 01:12:32+00:00 HPO:probinson owl:Class HP:0012884 biolink:NamedThing Fallopian tube torsion A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation. hp0009lx5z Twisted fallopian tube Fallopian tube torsion, though rare, should be considered in women of reproductive age with unilateral pelvic pain. Early diagnostic laparoscopy is important for an accurate diagnosis and could salvage the tube. hecht 2014-06-11T08:01:57Z SNOMEDCT_US:46946009|UMLS:C0269169 human_phenotype owl:Class HP:0200147 biolink:NamedThing Neuronal loss in basal ganglia A reduction in the number of nerve cells in the basal ganglia. hp0009lx5z See Fig. 11 in PMID:13729575. sebastiankohler 2013-06-13T12:59:06Z UMLS:C2750913 human_phenotype owl:Class HP:0033885 biolink:NamedThing Cortical radial artery lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp0009lx5z 2021-06-23 20:02:50+00:00 peter owl:Class HP:0007529 biolink:NamedThing Hidrotic ectodermal dysplasia hp0009lx5z SNOMEDCT_US:54209007|MSH:D004476|UMLS:C0162361 human_phenotype owl:Class HP:0009765 biolink:NamedThing Low hanging columella Columella extending inferior to the level of the nasal base, when viewed from the side. hp0009lx5z Columella, low hanging|Rounded columella|Columella extends below the ala nasi|Extension of the columella below the ala nasi|Columella, low|Low-hanging columella|Prominent columella peter 2009-02-01T11:01:14Z HP:0009766 UMLS:C1856119|UMLS:C4280395 human_phenotype owl:Class HP:0012464 biolink:NamedThing Decreased transferrin saturation A below normal level of saturation of serum transferrin with iron. hp0009lx5z Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. peter 2013-11-24T12:51:51Z UMLS:C0919785 human_phenotype owl:Class HP:0001385 biolink:NamedThing Hip dysplasia The presence of developmental dysplasia of the hip. hp0009lx5z Congenital hip dysplasia|Abnormal formation of the hip HP:0008787 SNOMEDCT_US:48334007|SNOMEDCT_US:52781008|UMLS:C0019555|MSH:D006618 human_phenotype owl:Class HP:0031737 biolink:NamedThing Cicatricial entropion Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. hp0009lx5z 2018-01-21 13:41:39+00:00 peter owl:Class HP:0000841 biolink:NamedThing Hyperactive renin-angiotensin system An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. hp0009lx5z Increased plasma renin activity If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume. UMLS:C3150267|UMLS:C1846345 human_phenotype owl:Class HP:0006694 biolink:NamedThing Early progressive calcific cardiac valvular disease hp0009lx5z UMLS:C4024999 human_phenotype owl:Class HP:0011207 biolink:NamedThing EEG with generalized slow activity grade 2 Generalized slowing of EEG activity at frequencies between 4-7 Hz. hp0009lx5z EEG with generalised slow activity grade 2 peter 2011-11-19T12:42:03Z UMLS:C4023467 human_phenotype owl:Class HP:0100298 biolink:NamedThing Motheaten muscle fibers hp0009lx5z Motheaten muscle fibres doelkens 2010-08-10T02:19:26Z UMLS:C4022160 human_phenotype owl:Class HP:0030605 biolink:NamedThing Abnormal indocyanine green angiography hp0009lx5z UMLS:C4073075 owl:Class HP:0010310 biolink:NamedThing Chylothorax Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. hp0009lx5z peter 2009-07-12T02:30:05Z UMLS:C0008733|MSH:D002916|SNOMEDCT_US:83035003 human_phenotype owl:Class HP:0004284 biolink:NamedThing Notched hand bones hp0009lx5z Notched hand bones UMLS:C4025372 human_phenotype owl:Class HP:0011333 biolink:NamedThing Asymmetric crying face Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side. hp0009lx5z Asymmetric crying face|Partial unilateral facial paresis|Hypoplasia of depressor angula oris muscle Asymmetric crying facies is caused by underdevelopment of the depressor anguli oris muscle or compression of one of the branches of the facial nerve. peter 2012-02-25T05:07:01Z UMLS:C4280327|SNOMEDCT_US:51409009|MSH:C535349|UMLS:C0431406 human_phenotype owl:Class HP:0025094 biolink:NamedThing Disciform macular scar A subretinal scar with a disc-like shape in the region of the macula. hp0009lx5z 2016-10-24 01:29:42+00:00 HPO:probinson owl:Class HP:0032214 biolink:NamedThing Increased urinary transitional epithelial cell count An increased number of transitional epithelial cells per high-power field in urinanalysis. hp0009lx5z 2019-01-20 21:07:33+00:00 Transitional epithelial cells can be found in urinary tract starting from the renal pelvis down the ureters to the bladder and the proximal urethra. peter owl:Class HP:0025226 biolink:NamedThing Triggered by stress Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension. hp0009lx5z Stress triggered symptoms|Triggered by stress 2016-12-10 14:24:37+00:00 HPO:probinson owl:Class HP:0001937 biolink:NamedThing Microangiopathic hemolytic anemia hp0009lx5z Microangiopathic hemolytic anaemia MSH:D000743|UMLS:C0221021|SNOMEDCT_US:51071000 human_phenotype owl:Class HP:0032927 biolink:NamedThing Focal impaired awareness undressing automatism seizure A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset. hp0009lx5z peter owl:Class HP:4000039 biolink:NamedThing Reduced proportion of mucosal-associated invariant T cells A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count. hp0009lx5z 2021-05-02 20:28:29+00:00 Flow cytometry may identify MAIT cells as CD3+Valpha7+CD161hi or Tet-MR1+CD161hi. robinp owl:Class HP:0001325 biolink:NamedThing Hypoglycemic coma hp0009lx5z Loss of consciousness due to hypoglycemia|Hypoglycaemic coma|Coma, hypoglycemic|Coma caused by low blood sugar SNOMEDCT_US:267384006|UMLS:C0020617 human_phenotype owl:Class HP:0020113 biolink:NamedThing Decreased proportion of CD4+CD25+ regulatory T cells An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. hp0009lx5z Reduced proportion of CD4+CD25+ regulatory T cells|Decreased proportion of CD4+CD25+ Treg cells 2019-04-08 20:51:32+00:00 robinp owl:Class HP:0031453 biolink:NamedThing Oral lichenoid lesion Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions. hp0009lx5z 2017-09-17 15:39:38+00:00 peter owl:Class HP:0032612 biolink:NamedThing Triphalangeal hallux A hallux (big toe) with three phalanges in a single, proximo-distal axis. hp0009lx5z This feature can be seen in Figure 1c of PMID:22486404. peter owl:Class HP:0500173 biolink:NamedThing Reflex asystolic syncope A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure. hp0009lx5z Reflex anoxic seizures|Reflex anoxic seizure 2018-11-20 13:57:33+00:00 owl:Class HP:0011515 biolink:NamedThing Abnormal stereopsis Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head. hp0009lx5z peter 2012-04-06T06:03:49Z UMLS:C4023319 human_phenotype owl:Class HP:0410133 biolink:NamedThing Chronic idiopathic urticaria Urticaria characterized by spontaneously recurring hives for 6 weeks or longer. hp0009lx5z CSU|CIU|Chronic spontaneous urticaria 2018-03-02 19:33:51+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0002180 biolink:NamedThing Neurodegeneration Progressive loss of neural cells and tissue. hp0009lx5z Neuro-degenerative disease|Progressive neurodegenerative disorder|Ongoing loss of nerve cells|Neurodegenerative disease MSH:D019636|UMLS:C0524851|MSH:D009410|UMLS:C0027746|UMLS:C4020854 owl:Class HP:3000032 biolink:NamedThing Abnormality of central retinal artery An abnormality of a central retinal artery. hp0009lx5z The central retinal artery is a small branch of the ophthalmic artery that extends forward a short distance before entering the meningeal sheath of the nerve about 10 to 12 mm behind the globe of the eye. vasilevs 2015-08-07T00:27:17Z UMLS:C4073240 human_phenotype owl:Class HP:0100040 biolink:NamedThing Broad 2nd toe A broad appearance of the second toe. hp0009lx5z Wide 2nd toe Note that an apparent broad appearance might be due to a hidden duplication. doelkens 2010-06-24T09:52:57Z UMLS:C4022381 human_phenotype owl:Class HP:0020205 biolink:NamedThing Tubulointerstitial fungal infiltration Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. hp0009lx5z Renal tubulointerstitial fungal organisms Tubulointerstitial fungi be ascending or vascuolcentric/blood-born. This finding can be associated with necrotizing tubulointerstitial lesions. robinp 2019-12-23 16:33:20+00:00 owl:Class HP:0003492 biolink:NamedThing High urinary gonadotropin level An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism. hp0009lx5z 'has part' some ('increased amount' and ('inheres in' some ('Gonadotropin (adult human)' and ('part of' some urine))) and ('has modifier' some abnormal)) UMLS:C4025606 human_phenotype owl:Class HP:0005421 biolink:NamedThing Decreased serum complement C3 A reduced level of the complement component C3 in circulation. hp0009lx5z Decreased serum complement C3 level|Decreased serum C3 HP:0005408 UMLS:C1837512 human_phenotype owl:Class HP:0033585 biolink:NamedThing Fibrotic non-specific interstitial pneumonia A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation. hp0009lx5z 2021-01-27 20:44:16+00:00 peter owl:Class HP:0031274 biolink:NamedThing Hypovolemic shock A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures. hp0009lx5z 2017-08-12 20:57:43+00:00 peter owl:Class HP:0500009 biolink:NamedThing Dysplastic gangliocytoma of the cerebellum It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. hp0009lx5z Lhermitte-Duclos disease|LDD Often associated with Cowden syndrome. owl:Class HP:0000813 biolink:NamedThing Bicornuate uterus The presence of a bicornuate uterus. hp0009lx5z Heart-shaped uterus|Uterus bicornis|Heart shaped uterus Uterus with two horn-shaped branches. HP:0008735 UMLS:C0266387|SNOMEDCT_US:31401003 human_phenotype owl:Class HP:0030088 biolink:NamedThing Increased serum testosterone level An elevated circulating testosterone level in the blood. hp0009lx5z High serum testosterone levels|High serum testosterone level|Increased testosterone|Increased serum testosterone levels HPO:skoehler UMLS:C0241358|UMLS:C4072885 owl:Class HP:0003682 biolink:NamedThing Variable progression rate Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another. hp0009lx5z UMLS:C1970284 owl:Class HP:0003587 biolink:NamedThing Insidious onset Gradual, very slow onset of disease manifestations. hp0009lx5z Gradual onset UMLS:C0332164|UMLS:C1298634|SNOMEDCT_US:61751001|SNOMEDCT_US:367326009 owl:Class HP:0033604 biolink:NamedThing Glomerular capillary wire loop deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. hp0009lx5z 2021-01-30 16:24:44+00:00 peter owl:Class HP:0100878 biolink:NamedThing Enlarged uterus hp0009lx5z Enlarged uterus doelkens 2011-12-01T02:32:26Z SNOMEDCT_US:198319004|UMLS:C0151994 human_phenotype owl:Class HP:0010298 biolink:NamedThing Smooth tongue Glossy appearance of the entire tongue surface. hp0009lx5z Smooth surface of tongue|Atrophy of dorsum of tongue|Atrophy of tongue surface|Smooth dorsum of tongue|Smooth tongue|Smooth lingual surface|Atrophy of lingual surface This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue. peter 2009-07-12T11:58:17Z SNOMEDCT_US:9491003|UMLS:C4280383|UMLS:C0155964|UMLS:C4280381|UMLS:C4280382 human_phenotype owl:Class HP:0033665 biolink:NamedThing Diminished health-related quality of life A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles. hp0009lx5z 2021-02-28 14:48:04+00:00 peter owl:Class HP:0033373 biolink:NamedThing Increased KCO Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). hp0009lx5z 2020-12-23 12:40:33+00:00 peter owl:Class HP:0008445 biolink:NamedThing Cervical spinal canal stenosis An abnormal narrowing of the cervical spinal canal. hp0009lx5z Narrow cervical spinal canal UMLS:C1844925 human_phenotype owl:Class HP:0030095 biolink:NamedThing Reduced muscle collagen VI A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. hp0009lx5z Reduced collagen 6 in muscle UMLS:C4021054 owl:Class HP:0010711 biolink:NamedThing 1-2 toe syndactyly Syndactyly with fusion of toes one and two. hp0009lx5z Webbed first and second toes|Webbed 1st-2nd toes sdoelken 2010-03-26T05:22:26Z UMLS:C4023726 human_phenotype owl:Class HP:0030329 biolink:NamedThing Retinal thinning Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). hp0009lx5z Retinal thinning UMLS:C3549703 owl:Class HP:0012694 biolink:NamedThing Enlarged thalamic volume An increase in the quantity of space occupied by the thalamus. hp0009lx5z peter 2014-03-22T05:47:14Z UMLS:C4022772 human_phenotype owl:Class HP:0006943 biolink:NamedThing Diffuse spongiform leukoencephalopathy hp0009lx5z UMLS:C1858857 human_phenotype owl:Class HP:0010757 biolink:NamedThing Aplasia of the premaxilla Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. hp0009lx5z Failure of development of the primary palate bone|Aplasia of the intermaxillary bone|Missing primary palate bone|Aplasia of the primary palate bone|Failure of development of premaxilla|Absence of the primary palate bone|Missing premaxilla|Absence of the premaxilla|Absence of the intermaxillary bone sdoelken 2010-04-23T10:42:17Z UMLS:C4023712 human_phenotype owl:Class HP:0040008 biolink:NamedThing Aplasia of facial bones hp0009lx5z Absence of facial bones|Failure of development of facial skeleton|Failure of development of facial bones|Aplasia of facial skeleton|Missing facial bones|Agenesis of facial bones HPO:skoehler UMLS:C4022497|UMLS:C4280300|UMLS:C1385254|UMLS:C4280301 owl:Class HP:5000044 biolink:NamedThing Anti-GluK2 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2). hp0009lx5z Anti-glutamate kainate receptor subunit 2 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0000635 biolink:NamedThing Blue irides A markedly blue coloration of the iris. hp0009lx5z Blue eyes SNOMEDCT_US:301952009|UMLS:C0578626 human_phenotype owl:Class HP:0100512 biolink:NamedThing Low levels of vitamin D A reduced concentration of Vitamin D. hp0009lx5z Vitamin D deficiency|Deficient in vitamin D doelkens 2010-12-17T06:19:35Z MSH:D014808|UMLS:C0042870|SNOMEDCT_US:34713006 human_phenotype owl:Class HP:0041232 biolink:NamedThing Fractured skeleton of manual acropodium A partial or complete breakage of the skeleton of manual acropodium. hp0009lx5z bone skeleton of manual acropodium owl:Class HP:0004576 biolink:NamedThing Sclerotic vertebral endplates Sclerosis (increased density) affecting vertebral end plates. hp0009lx5z Endplate sclerosis UMLS:C1859698 owl:Class HP:0025019 biolink:NamedThing Arterial rupture Sudden breakage of an artery leading to leakage of blood from the circulation. hp0009lx5z 2016-08-12 12:03:50+00:00 HPO:probinson owl:Class HP:0032940 biolink:NamedThing Dissociative reaction A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration. hp0009lx5z peter owl:Class HP:0033816 biolink:NamedThing Centrilobular Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs. hp0009lx5z 2021-05-09 12:12:13+00:00 peter owl:Class HP:0011941 biolink:NamedThing Anterior wedging of L2 An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). hp0009lx5z peter 2012-06-10T06:10:08Z UMLS:C4023114 human_phenotype owl:Class HP:0041178 biolink:NamedThing Fractured distal phalanx of manual digit 4 A partial or complete breakage of the distal phalanx of manual digit 4. hp0009lx5z bone distal phalanx of manual digit 4 owl:Class HP:0008823 biolink:NamedThing Hypoplastic inferior pubic rami hp0009lx5z UMLS:C1853573 human_phenotype owl:Class HP:0006538 biolink:NamedThing Recurrent bronchopulmonary infections An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. hp0009lx5z Recurrent infections in bronchi and lungs UMLS:C2169795 human_phenotype owl:Class HP:0100532 biolink:NamedThing Scleritis Inflammation of the sclera. hp0009lx5z Inflammation of the outer white part of the eye Scleritis may be accompanied by blurred vision, eye pain, redness of the (normally white) sclera, photophobia, and tearing. doelkens 2010-12-20T03:50:04Z SNOMEDCT_US:78370002|UMLS:C0036416|MSH:D015423 human_phenotype owl:Class HP:0001408 biolink:NamedThing Bile duct proliferation Proliferative changes of the bile ducts. hp0009lx5z Proliferation of bile canaliculi SNOMEDCT_US:20239009|UMLS:C0267818 human_phenotype owl:Class HP:0007802 biolink:NamedThing Granular corneal dystrophy The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material. hp0009lx5z UMLS:C0018179|SNOMEDCT_US:45283008|MSH:D003317 human_phenotype owl:Class HP:0032831 biolink:NamedThing Neonatal bilateral asymmetric tonic seizure Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically. hp0009lx5z peter owl:Class HP:0045063 biolink:NamedThing Increased PIVKA-II Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells. hp0009lx5z Increased prothrombin induced by vitamin K absence-II PIVKA-II can be measured by enzyme-linked immunosorbent assay (ELISA). UMLS:C1112467 owl:Class HP:0002139 biolink:NamedThing Arrhinencephaly hp0009lx5z MSH:D016142|UMLS:C0078982 human_phenotype owl:Class HP:0040255 biolink:NamedThing Aplasia/Hypoplasia of the clitoris hp0009lx5z UMLS:C4280693 owl:Class HP:0020128 biolink:NamedThing Aplasia of the olfactory tract Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell. hp0009lx5z robinp 2019-07-05 15:49:35+00:00 owl:Class HP:0007502 biolink:NamedThing Follicular hyperkeratosis A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. hp0009lx5z Hyperkeratosis follicularis HP:0007600 UMLS:C0334013|SNOMEDCT_US:402341008|SNOMEDCT_US:81845009|SNOMEDCT_US:238629004 human_phenotype owl:Class HP:0033920 biolink:NamedThing Renal arteriole intima/media storage material accumulation Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. hp0009lx5z Accumulated storage material within arteriolar intima/media 2021-06-24 00:55:23+00:00 peter owl:Class HP:0033143 biolink:NamedThing Jejunitis Inflammation of the lining of the middle section of the small intestine. hp0009lx5z 2020-09-15 10:25:52+00:00 peter owl:Class HP:0030333 biolink:NamedThing Abnormal alpha-beta T cell morphology A structuraly anomaly of T cells that express an alpha-beta T cell receptor. hp0009lx5z Normally, most T cells express a T cell receptor (TCR) that consists of an alpha and a beta chain. A smaller subset of T cells express a TCR consisting of gamma and delta chains, UMLS:C4022503 owl:Class HP:0030480 biolink:NamedThing Abnormal timing of light-adapted flicker electroretinogram hp0009lx5z UMLS:C4072970 owl:Class HP:0030473 biolink:NamedThing Abnormal light-adapted flicker electroretinogram hp0009lx5z Abnormal light-adapted 30Hz flicker electroretinogram|Abnormal light-adapted 30Hz flicker ERG|Abnormal light-adapted flicker ERG|Abnormal light-adapted flicker electroretinogram UMLS:C4072963 owl:Class HP:0025119 biolink:NamedThing Violet lip discoloration An alteration of the color of the lip to take on a violet color. This term does not include cyanosis. hp0009lx5z 2016-11-01 11:25:57+00:00 This feature may be seen rarely as a paraneoplastic manifestation. HPO:probinson owl:Class HP:0410028 biolink:NamedThing Recurrent oral herpes Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. hp0009lx5z Recurrent herpes labialis 2017-06-20 21:46:19+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0025558 biolink:NamedThing Lamellar cataract with riders Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. hp0009lx5z 2017-12-13 12:54:00+00:00 HPO:probinson owl:Class HP:0200084 biolink:NamedThing Giant cell hepatitis Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. hp0009lx5z Giant cell hepatitis on liver biopsy|Giant cell hepatitis on biopsy|Giant cell hepatitis shown on biopsy sebastiankohler 2013-06-04T02:32:26Z SNOMEDCT_US:69800000|UMLS:C0027613|UMLS:C2675624|UMLS:C2673820|UMLS:C4020697 human_phenotype owl:Class HP:0012465 biolink:NamedThing Elevated hepatic iron concentration An increased level of iron in liver tissues. hp0009lx5z Increased iron concentration in liver|Increased liver iron level This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging. peter 2013-11-24T12:54:57Z UMLS:C4022891 human_phenotype owl:Class HP:0012053 biolink:NamedThing Decreased circulating calcifediol concentration A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3. hp0009lx5z Decreased 25-hydroxyvitamin D3|Low serum calcidiol|Low serum 25-hydroxycholecalciferol|Low serum calcifediol peter 2012-08-01T01:04:42Z UMLS:C4023064 owl:Class HP:0006414 biolink:NamedThing Distal tibial bowing A bending or abnormal curvature of the distal portion of the tibia. hp0009lx5z Bowing of the distal tibia|Tibial bowing at ankle UMLS:C4021598 human_phenotype owl:Class HP:0032653 biolink:NamedThing Elevated lactate:pyruvate ratio An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation. hp0009lx5z The lactate:pyruvate (L:P) ratio reflects the equilibrium between the product and substrate of the reaction catalyzed by lactase dehydrogenase and indirectly reflects the NADH:NAD+ cytoplasmic redox state. When cellular respiration or mitochondrial oxidative metabolism is impaired, such as in inborn errors of components of the mitochondrial respiratory chain, there is an increase in reducing equivalents (excess NADH and absence of NAD+) which results in an elevated L:P molar ratio. peter owl:Class HP:0012214 biolink:NamedThing Increased glomerular filtration rate An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. hp0009lx5z Increased GFR peter 2013-03-14T07:55:03Z UMLS:C0856948 human_phenotype owl:Class HP:0012212 biolink:NamedThing Abnormal glomerular filtration rate An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. hp0009lx5z Abnormal GFR Glomerular filtration, the first step in urine formation, is the passive process of ultrafiltration of plasma from blood into Bowman's space as it traverses the glomerular capillaries. Because GFR varies by body size, it is indexed relative to an average body surface area (BSA) of 1.73 m2 and expressed as ml/min/per 1.73 m2. GFR cannot be measured directly; it can be assessed from clearance measurements or estimated from serum levels of endogenous filtration markers, such as creatinine or cystatin C. Clearance measurements require either multiple measurements of serum concentrations or timed urine collections and are not routinely performed. GFR is usually estimated from serum concentrations of a marker of filtration using GFR estimating equations. peter 2013-03-14T07:49:53Z UMLS:C0854050 human_phenotype owl:Class HP:0031619 biolink:NamedThing Anterior chamber flare grade 2+ Moderate anterior chamber flare (iris and lens details clear). hp0009lx5z 2017-12-16 13:29:55+00:00 peter owl:Class HP:0030728 biolink:NamedThing Meromelia Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. hp0009lx5z SNOMEDCT_US:60220000|UMLS:C0265549 owl:Class HP:0100301 biolink:NamedThing Muscle fiber tubular inclusions Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities. hp0009lx5z Muscle fiber tubular aggregates|Muscle fibre tubular inclusions|Muscle fibre tubular aggregates doelkens 2010-08-10T02:31:27Z UMLS:C4021024 human_phenotype owl:Class HP:0033659 biolink:NamedThing Crazy-paving pattern This pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia. hp0009lx5z 2021-02-27 14:32:03+00:00 See Figure 20 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0006808 biolink:NamedThing Cerebral hypomyelination Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. hp0009lx5z Hypomyelination of the brain UMLS:C2677328 owl:Class HP:0001651 biolink:NamedThing Dextrocardia The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. hp0009lx5z Thoracic situs inversus|Heart tip and four chambers point towards right side of body MSH:D003914|EPCC:02.01.02|UMLS:C0011813|Fyler:0110|ICD-10:Q24.0|Fyler:110|SNOMEDCT_US:27637000 owl:Class HP:0100459 biolink:NamedThing Osteolytic defects of the distal phalanx of the 4th toe hp0009lx5z Osteolytic defects of the outermost bone of the 4th toe UMLS:C4022068 human_phenotype owl:Class HP:0000112 biolink:NamedThing Nephropathy A nonspecific term referring to disease or damage of the kidneys. hp0009lx5z Kidney damage|Kidney disease UMLS:C1408258|SNOMEDCT_US:90708001|MSH:D007674|UMLS:C0022658 human_phenotype owl:Class HP:0011763 biolink:NamedThing Pituitary carcinoma A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS. hp0009lx5z peter 2012-04-22T03:52:30Z MSH:D010911|SNOMEDCT_US:254955001|UMLS:C0346300|SNOMEDCT_US:128665000 human_phenotype owl:Class HP:0002639 biolink:NamedThing Budd-Chiari syndrome Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience. hp0009lx5z UMLS:C0856761|MSH:D006502|SNOMEDCT_US:82385007 human_phenotype owl:Class HP:0007111 biolink:NamedThing Chronic hepatic encephalopathy hp0009lx5z UMLS:C4024937 human_phenotype owl:Class HP:0011910 biolink:NamedThing Shortening of all phalanges of fingers Abnormal reduction in length affecting all phalanges. hp0009lx5z Shortening of all finger bones peter 2012-06-03T10:50:44Z UMLS:C4023133 human_phenotype owl:Class HP:0012195 biolink:NamedThing Irregular respiration Uneven rhythm of breathing. hp0009lx5z Irregular respiratory rhythm peter 2013-03-11T05:10:57Z SNOMEDCT_US:248585001|UMLS:C0425492 owl:Class HP:0000445 biolink:NamedThing Wide nose Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. hp0009lx5z Increased nasal width|Increased breadth of nose|Broad nose|Increased nasal breadth|Wide nose|Increased width of nose HP:0000438 UMLS:C0426421|SNOMEDCT_US:249321001 human_phenotype owl:Class HP:0008213 biolink:NamedThing Gonadotropin deficiency A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). hp0009lx5z Pituitary gonadotropin deficiency HP:0008192 UMLS:C0271623|MSH:D007006|SNOMEDCT_US:33927004 human_phenotype owl:Class HP:0008401 biolink:NamedThing Onychogryposis of toenails Thickened toenails. hp0009lx5z Overgrowth and curving of toenails HP:0008405|HP:0008395 UMLS:C4024679 human_phenotype owl:Class HP:0007731 biolink:NamedThing Chorioretinal dysplasia Abnormal development of the choroid and retina. hp0009lx5z UMLS:C4024809 human_phenotype owl:Class HP:0002521 biolink:NamedThing Hypsarrhythmia Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). hp0009lx5z Hypsarrhythmia by EEG MSH:D013036|UMLS:C0684276|SNOMEDCT_US:28055006 human_phenotype owl:Class HP:0033909 biolink:NamedThing Arcuate vein medial hypertrophy Increased thickness of middle layer of the arcuate veins of the kidney. hp0009lx5z Medial hypertrophy within arcuate veins 2021-06-23 23:00:18+00:00 peter owl:Class HP:0033423 biolink:NamedThing Pulmonary arterial hypertension with positive acute response to NO challenge A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm. hp0009lx5z 2021-01-09 17:33:05+00:00 peter owl:Class HP:0001776 biolink:NamedThing Bilateral talipes equinovarus Bilateral clubfoot deformity (see HP:0001762). hp0009lx5z Club foot on both sides|Bilateral clubfeet|Bilateral clubfoot UMLS:C1837835 human_phenotype owl:Class HP:0010571 biolink:NamedThing Elevated levels of phytanic acid An abnormal elevation of phytanic acid. hp0009lx5z Elevated levels of phytanic acid Phytanic acid (3,7,11,15-tetramethyl hexadecanoic acid) is a fatty acid that is derived from chlorophyll and present in the diet. The metabolism of phytanic acid involves alpha-oxidation in the peroxisome, which converts phytanic acid to pristanic acid. Peroxisomes involved in the catabolism of very long chain fatty acids and phytanic acid. Peroxisomal malfunctioning can lead to over-accumulation of very long chain fatty acids and phytanic acid, among other things. peter 2009-10-20T07:19:29Z UMLS:C4023786 human_phenotype owl:Class HP:0040123 biolink:NamedThing Impairment of the reflex of the tensor tympani muscle hp0009lx5z HPO:skoehler UMLS:C4022424 owl:Class HP:0500041 biolink:NamedThing Myopic astigmatism A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. hp0009lx5z 2018-02-02 15:53:24+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0031600 biolink:NamedThing P wave inversion P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves. hp0009lx5z 2017-10-15 14:02:33+00:00 peter owl:Class HP:0004209 biolink:NamedThing Clinodactyly of the 5th finger Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). hp0009lx5z Fifth finger clinodactyly|Curvature of pinky finger|Curvature of little finger|Curvature of pinkie finger|Bilateral fifth finger clinodactyly|Bilateral fifth digit clinodactyly|Clinodactyly of fifth digit|Clinodactyly of the little finger|Permanent curving of the pinkie finger Minor degrees of curvature of the small finger are so common as to be considered normal. HP:0009181|HP:0001588|HP:0001158|HP:0006181|HP:0006083|HP:0004212 UMLS:C4280538|UMLS:C1850049 human_phenotype owl:Class HP:0500142 biolink:NamedThing Hypolysinemia A decreased amount of lysine in the blood. hp0009lx5z Low blood lysine levels|Decreased blood lysine 2018-10-03 20:04:58+00:00 owl:Class HP:0011465 biolink:NamedThing Duodenal aganglionosis A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum. hp0009lx5z peter 2012-03-25T07:38:12Z UMLS:C4023345 human_phenotype owl:Class HP:0032149 biolink:NamedThing Breakthrough pain A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain. hp0009lx5z 2018-12-02 12:26:17+00:00 peter owl:Class HP:0006187 biolink:NamedThing Fusion of midphalangeal joints hp0009lx5z UMLS:C1861332 human_phenotype owl:Class HP:0000490 biolink:NamedThing Deeply set eye An eye that is more deeply recessed into the plane of the face than is typical. hp0009lx5z Sunken eyes|Ocular depression|Deeply set eye|Deep set eye|Enophthalmos|Deep-set eyes|Sunken eye This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. HP:0000663 UMLS:C0014306|UMLS:C0423224|SNOMEDCT_US:80093006|SNOMEDCT_US:246923005|MSH:D015841 human_phenotype owl:Class HP:0005156 biolink:NamedThing Hypoplastic left atrium Underdeveloped, small left heart atrium hp0009lx5z Underdeveloped left heart atrium|Left atrium hypoplasia UMLS:C1970625|Fyler:3040 human_phenotype owl:Class HP:0007800 biolink:NamedThing Increased axial length of the globe Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. hp0009lx5z Globe elongated|Increased axial globe length|Increased front to back length of eyeball UMLS:C1835117 human_phenotype owl:Class HP:0011109 biolink:NamedThing Chronic sinusitis A chronic form of sinusitis. hp0009lx5z Sinusitis, chronic|Chronic sinus disease peter 2011-06-10T07:33:14Z UMLS:C0748720|UMLS:C0149516|SNOMEDCT_US:40055000 human_phenotype owl:Class HP:0410347 biolink:NamedThing Increased urinary high-mannose-type oligosaccharide An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine. hp0009lx5z Increased concentration of high-mannose-type oligosaccharides in urine owl:Class HP:3000071 biolink:NamedThing Abnormality of levator labii superioris An abnormality of a levator labii superioris. hp0009lx5z vasilevs 2015-08-07T03:38:52Z UMLS:C4073278 human_phenotype owl:Class HP:0011650 biolink:NamedThing Bilateral ductus arteriosus The presence of both a left and a right ductus arteriosus. hp0009lx5z Bilateral ductus botalli peter 2012-04-09T10:00:51Z SNOMEDCT_US:461093009|UMLS:C0431501 human_phenotype owl:Class HP:0012194 biolink:NamedThing Episodic hemiplegia Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. hp0009lx5z peter 2013-02-27T07:26:26Z UMLS:C1863061 human_phenotype owl:Class HP:0001609 biolink:NamedThing Hoarse voice Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. hp0009lx5z Hoarseness|Hoarse voice|Husky voice HP:0001619|HP:0001613 SNOMEDCT_US:50219008|MSH:D006685|UMLS:C0019825|UMLS:C1854348 human_phenotype owl:Class HP:0005999 biolink:NamedThing Ureteral atresia A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. hp0009lx5z SNOMEDCT_US:204974003|UMLS:C0266320|SNOMEDCT_US:49534003 owl:Class HP:0001854 biolink:NamedThing Podagra Gout affecting the Metatarsophalangeal joint of big toe. hp0009lx5z Gout of big toe SNOMEDCT_US:67148009|UMLS:C0221168 human_phenotype owl:Class HP:0033830 biolink:NamedThing Hyperdense pulmonary mass A type of pulmonary mass with high attenuation. hp0009lx5z 2021-05-09 12:32:24+00:00 peter owl:Class HP:0009087 biolink:NamedThing Posteriorly placed tongue hp0009lx5z Posteriorly placed tongue UMLS:C4024600 human_phenotype owl:Class HP:0012572 biolink:NamedThing Ureter duplex A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder. hp0009lx5z peter 2014-01-16T11:42:00Z ICD-10:Q62.5|SNOMEDCT_US:49496001|UMLS:C0221365 human_phenotype owl:Class HP:0009110 biolink:NamedThing Diaphragmatic eventration A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. hp0009lx5z Eventration of the diaphragm peter 2008-04-05T10:42:00Z HP:0009114 SNOMEDCT_US:34168003|MSH:D003965|UMLS:C0011981 human_phenotype owl:Class HP:0000922 biolink:NamedThing Posterior rib cupping Wide, concave posterior rib end. hp0009lx5z Anterior and posterior rib cupping HP:0006622 UMLS:C1837483 human_phenotype owl:Class HP:0006758 biolink:NamedThing Malignant genitourinary tract tumor The presence of a malignant neoplasm of the genital system. hp0009lx5z Malignant GU tract tumor|Malignant GU tract tumour|Malignant genitourinary tract tumour UMLS:C1834728 human_phenotype owl:Class HP:0040322 biolink:NamedThing Purple urine An abnormal purple color of the urine. hp0009lx5z http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean ORCID:0000-0002-5316-1399 owl:Class HP:0004040 biolink:NamedThing Corner fragments of ulnar metaphysis hp0009lx5z UMLS:C4025423 human_phenotype owl:Class HP:0003214 biolink:NamedThing Prolonged G2 phase of cell cycle hp0009lx5z UMLS:C4025639 human_phenotype owl:Class HP:0010518 biolink:NamedThing Thyroglossal cyst An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct. hp0009lx5z Thyroglossal duct cyst A developmental defect resulting in the presence of a thyroglossal cyst, a fibrous cyst that forms from a persistent thyroglossal duct. During the embryologic development of the thyroid gland, the precursor of the thyroid migrates from the base of the tongue inferiorly though the thyroglossal duct. This duct normally disappears following the development and migration of the thyroid gland, but if a portion of the duct remain it can form a thyroglossal cyst. peter 2009-09-19T04:38:04Z MSH:D013955|SNOMEDCT_US:39462005|UMLS:C0040124 human_phenotype owl:Class HP:0031126 biolink:NamedThing Impaired clot retraction Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration. hp0009lx5z 2017-06-10 12:31:10+00:00 peter owl:Class HP:0012363 biolink:NamedThing Decreased sialylation of O-linked protein glycosylation An reduced addition of sialic acids to O-linked glycans. hp0009lx5z peter 2013-09-15T10:36:43Z UMLS:C4022928 human_phenotype owl:Class HP:0007483 biolink:NamedThing Depigmentation/hyperpigmentation of skin hp0009lx5z UMLS:C4024864 human_phenotype owl:Class HP:0032971 biolink:NamedThing Computed tomographic halo sign CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm. hp0009lx5z CT halo sign peter owl:Class HP:0001897 biolink:NamedThing Normocytic anemia A kind of anemia in which the volume of the red blood cells is normal. hp0009lx5z Normocytic anaemia In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults). SNOMEDCT_US:300980002|UMLS:C0085577 human_phenotype owl:Class HP:0003332 biolink:NamedThing Absent primary metaphyseal spongiosa hp0009lx5z UMLS:C3277126 human_phenotype owl:Class HP:0010724 biolink:NamedThing Advanced pneumatization of the mastoid process An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. hp0009lx5z sdoelken 2010-04-20T10:38:57Z UMLS:C4021828 human_phenotype owl:Class HP:0033689 biolink:NamedThing Anterograde memory impairment The impaired ability to establish new long-term memories. hp0009lx5z Anterograde amnesia 2021-03-07 22:50:11+00:00 peter owl:Class HP:0011956 biolink:NamedThing Intestinal lymphoid nodular hyperplasia A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. hp0009lx5z peter 2012-06-21T09:27:07Z UMLS:C4023109 human_phenotype owl:Class HP:0031488 biolink:NamedThing Arteriovenous malformation of the lip A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus. hp0009lx5z Atypical connection between arteries and veins 2017-09-18 00:24:29+00:00 peter owl:Class HP:0025328 biolink:NamedThing Antepartum hemorrhage Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby. hp0009lx5z Prepartum hemorrhage|Antepartum haemorrhage|Prepartum haemorrhage 2017-02-11 11:09:10+00:00 HPO:probinson owl:Class HP:0033131 biolink:NamedThing Renal medullary hyperechogenicity Increased echogenecity of the medullary region of the kidney. hp0009lx5z Increased renal medullary echogenicity 2020-09-09 12:57:19+00:00 Increased echogenicity of the kidney parenchyma results from the increased presence of material that can reflect sound waves back, thus increasing its brightness on the ultrasonography image. Because fibrous tissue (e.g., glomerulosclerosis, interstitial fibrosis) increases echogenicity, CKD is typically associated with increased echogenicity. Inflammatory infiltrates may explain the increased echogenicity that occurs with acute interstitial nephritis and GN. Proteinaceous casts are thought to cause the increased echogenicity associated with acute tubular necrosis (ATN). Calcium deposits and stones are very echogenic; thus, medullary nephrocalcinosis is characterized by increased medullary echogenicity and a relatively normal-appearing cortex. Several renal diseases are associated with medullary nephrocalcinosis, including medullary sponge kidney, hyperparathyroidism, renal tubular acidosis, and vitamin D toxicity. Other kidney diseases that have been associated with a hyperechoic medulla include sickle cell disease and gout peter owl:Class HP:0025473 biolink:NamedThing Hyperpigmented papule A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin. hp0009lx5z 2017-05-14 12:34:40+00:00 HPO:probinson owl:Class HP:0005873 biolink:NamedThing Polysyndactyly of hallux Combined syndactyly and polydactyly of the great toe. hp0009lx5z Polysyndactyly of great toe|Polysyndactyly of big toe UMLS:C4021618 human_phenotype owl:Class HP:0007271 biolink:NamedThing Occipital myelomeningocele hp0009lx5z UMLS:C4024912 human_phenotype owl:Class HP:0002436 biolink:NamedThing Occipital meningocele A herniation of meninges through a congenital bone defect in the skull in the occipital region. hp0009lx5z UMLS:C1848652|SNOMEDCT_US:445468002 human_phenotype owl:Class HP:0003144 biolink:NamedThing Increased serum serotonin A increased concentration of serotonin in the blood. hp0009lx5z Increased serum serotonin UMLS:C0877243 human_phenotype owl:Class HP:0012257 biolink:NamedThing Absent inner dynein arms Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. hp0009lx5z peter 2013-04-07T09:38:46Z UMLS:C4022988 human_phenotype owl:Class HP:0009805 biolink:NamedThing Low-output congestive heart failure A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. hp0009lx5z peter 2009-02-16T11:10:18Z UMLS:C4024201 human_phenotype owl:Class HP:0410339 biolink:NamedThing Insect bite allergy Hypersensitivity in form of an adverse immune reaction against insect bites. hp0009lx5z IgE-mediated insect bite allergy|Insect bite allergy|Immunoglobulin E-mediated insect bite allergy|Allergy to insect bites owl:Class HP:0011115 biolink:NamedThing Abnormality of chemokine secretion An abnormality in the production or cellular release of a chemokine (a class of cytokines). hp0009lx5z peter 2011-06-12T09:14:25Z UMLS:C4023532 owl:Class HP:0030133 biolink:NamedThing Abnormal presence of ultra-large von Willebrand factor multimers Detection of abnormal ultra-large von Willebrand factor multimers. hp0009lx5z The type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers. UMLS:C4022615 owl:Class HP:0033377 biolink:NamedThing Increased airway neuroendocrine cells Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs). hp0009lx5z 2020-12-23 14:03:04+00:00 The bronchial mucosa also contains a small cluster of neuroendocrine cells, also known as Kulchitsky cells. They have neurosecretory type granules and can secrete several factors. This includes catecholamine and polypeptide hormones, such as serotonin, calcitonin, and gastrin-releasing factors (bombesin). Like brush cells, these neuroendocrine cells make up only a small portion of mucosal epithelium, around 3%. Pulmonary neuroendocrine cells (NECs), which produce bioactive products, including bombesin-like peptide and serotonin, are specialized epithelial cells scattered throughout the conducting airways and as innervated clusters (neuroepithelial bodies [NEBs]). In the fetus, NECs are most abundant in the distal airways where they promote branching morphogenesis, epithelial and mesenchymal cell proliferation, and surfactant secretion. Postnatally, NECs function as oxygen chemosensors and degranulate in response to hypoxia. Although NECs decline rapidly in number after the neonatal period, NEC hyperplasia has been described in a number of conditions or disorders, including bronchopulmonary dysplasia, sudden infant death syndrome, pulmonary hypertension, cystic fibrosis, and mechanical ventilation. peter owl:Class HP:0000794 biolink:NamedThing IgA deposition in the glomerulus The presence of immunoglobulin A deposits in the glomerulus. hp0009lx5z IgA nephropathy UMLS:C4025827|MSH:D005922|SNOMEDCT_US:68779003|UMLS:C0017661|SNOMEDCT_US:236407003 human_phenotype owl:Class HP:0002324 biolink:NamedThing Hydranencephaly A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. hp0009lx5z Hydrancephaly MSH:D006832|SNOMEDCT_US:30023002|UMLS:C0020225 human_phenotype owl:Class HP:0005461 biolink:NamedThing Craniofacial disproportion hp0009lx5z UMLS:C1867114 human_phenotype owl:Class HP:0025479 biolink:NamedThing Self-neglect Neglecting one's own needs and well-being. hp0009lx5z 2017-05-14 13:39:41+00:00 HPO:probinson owl:Class HP:0032000 biolink:NamedThing Pleural rub An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles hp0009lx5z 2018-07-15 21:53:13+00:00 peter owl:Class HP:0031037 biolink:NamedThing Reduced insulin-like factor 3 level Blood concentration of insulin-like factor 3 (ILF3) is below normal limits. hp0009lx5z Reduced plasma INSL3 level 2017-05-27 11:44:58+00:00 Insulin-like factor 3 (INSL3) is a peptide hormone produced in leydig cells of the testes. Its role in the adult male is unknown but INSL3 and its receptor RXFP2 have been linked to bone cell differentiation. It is speculated that low levels of INSL3 could be responsible for low bone mineral density in patients with primary osteoporosis and Klinefelter Syndrome. peter owl:Class HP:0100762 biolink:NamedThing Hemobilia Bleeding into the biliary tree. hp0009lx5z Haemobilia doelkens 2011-06-07T10:36:09Z SNOMEDCT_US:66556007|MSH:D006431|UMLS:C0018994 human_phenotype owl:Class HP:0012457 biolink:NamedThing Medial calcification of medium-sized arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries. hp0009lx5z peter 2013-11-24T11:11:13Z UMLS:C4022895 owl:Class HP:0031206 biolink:NamedThing Striatal T2 hyperintensity Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging. hp0009lx5z 2017-06-29 12:15:29+00:00 peter owl:Class HP:0000627 biolink:NamedThing Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. hp0009lx5z Embryotoxon Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant. HP:0100740 UMLS:C0546967|SNOMEDCT_US:253228006|UMLS:C0344531|SNOMEDCT_US:392437005 human_phenotype owl:Class HP:0040142 biolink:NamedThing Reduced 5-oxoprolinase level Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. hp0009lx5z 5-oxoprolinase deficiency HPO:skoehler MSH:C535322|UMLS:C0268525|SNOMEDCT_US:26132002 owl:Class HP:0003258 biolink:NamedThing Glyoxalase deficiency hp0009lx5z UMLS:C3279658 human_phenotype owl:Class HP:0032608 biolink:NamedThing Thyroidization-type tubular atrophy A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. hp0009lx5z peter owl:Class HP:0500094 biolink:NamedThing Latex allergy Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis. hp0009lx5z 2018-04-27 19:47:57+00:00 owl:Class HP:0001459 biolink:NamedThing 1-3 toe syndactyly Syndactyly with fusion of toes one to three. hp0009lx5z Webbed 1st-3rd toes UMLS:C4025774 human_phenotype owl:Class HP:0032451 biolink:NamedThing Oral melanotic macule Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented. hp0009lx5z Melanotic macule of oral mucosa 2019-03-08 11:02:36+00:00 Melanotic macules very rarely, if ever, present larger than one centimeter in diameter. Although these are innocuous lesions, a biopsy is usually warranted for diagnosis since mucosal melanoma can mimic the appearance of a melanotic macule. Melanotic macules are caused by functional hyperactivity of the regional melanocytes ie there is increased melanin production. Histologically, this is evidenced by abundant melanin pigmentation within the basal epithelial cell layer with melanin incontinence in the superficial portions of the submucosa. Importantly, there is no increase in melanocyte number. If there is evidence of melanocytic hyperplasia, it should be diagnosed as such and the lesion would likely warrant complete surgical removal. It is possible that melanocytic hyperplasia may potentially herald the development of malignant melanoma. peter owl:Class HP:0006338 biolink:NamedThing Malformation of mandibular premolar An abnormality of the morphology of secondary premolar tooth. hp0009lx5z Malformation of lower premolar|Malformation of mandibular bicuspid UMLS:C4025061 human_phenotype owl:Class HP:0100503 biolink:NamedThing Low levels of vitamin B1 A reduced concentration of vitamin B1. hp0009lx5z Reduced blood thiamine level|Vitamin B1 deficiency doelkens 2010-12-17T06:13:04Z SNOMEDCT_US:399357009|UMLS:C0039841|MSH:D013832 human_phenotype owl:Class HP:0000858 biolink:NamedThing Irregular menstruation Abnormally high variation in the amount of time between periods. hp0009lx5z Irregular periods|Menstrual irregularity|Menstrual irregularities|Irregular menses Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles. SNOMEDCT_US:80182007|UMLS:C0156404 owl:Class HP:0100457 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 5th toe hp0009lx5z UMLS:C4022070 human_phenotype owl:Class HP:0005758 biolink:NamedThing Basilar impression Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. hp0009lx5z MSH:D010985|UMLS:C0032209|SNOMEDCT_US:86587003 owl:Class HP:0031658 biolink:NamedThing Third heart sound The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients. hp0009lx5z S3|Ventricular gallop 2017-12-17 16:01:27+00:00 peter owl:Class HP:0033533 biolink:NamedThing Increased cardiac output An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. hp0009lx5z 2021-01-15 12:57:43+00:00 peter owl:Class HP:0032351 biolink:NamedThing Phenylalaninuria Increased level of phenylalanine in urine. hp0009lx5z Increased level of phenylalanine in urine 2019-02-23 16:46:17+00:00 peter owl:Class HP:0025638 biolink:NamedThing Elevated urinary N-butyrylglycine An increased level of N-butyrylglycine in the urine. hp0009lx5z 2019-04-26 18:06:25+00:00 Butyrylglycine is a N-acylglycine obtained by formal condensation of the carboxy group of butyric acid with the amino group of glycine. Its urinary excretion is increased in certain inborn errors of metabolism. HPO:probinson owl:Class HP:0006977 biolink:NamedThing Grammar-specific speech disorder hp0009lx5z Grammar-specific speech disorder UMLS:C4024956 owl:Class HP:0030297 biolink:NamedThing Metaphyseal chondromatosis of ulna hp0009lx5z UMLS:C4022528 owl:Class HP:0007588 biolink:NamedThing Reticular hyperpigmentation Increased pigmentation of the skin with a netlike (reticular) pattern. hp0009lx5z Reticulate hyperpigmentation HP:0007579 UMLS:C1851972 human_phenotype owl:Class HP:0001519 biolink:NamedThing Disproportionate tall stature A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. hp0009lx5z Reduced upper-lower segment ratio|Dolichostenomelia|Marfanoid body habitus|Marfanoid habitus HP:0008864|HP:0003511 MSH:D054119|UMLS:C0003706|SNOMEDCT_US:62250003|UMLS:C1836996 human_phenotype owl:Class HP:0030876 biolink:NamedThing Increased pulmonary capillary wedge pressure Pulmonary capillary wedge pressure (PCWP) above 15mmHg. hp0009lx5z Increased pulmonary arterial wedge pressure|Increased pulmonary artery occlusion pressure The pulmonary capillary wedge pressure refers to the pressure measured by wedging a pulmonary catheter with an inflated balloon into a small pulmonary arterial branch. UMLS:C0520850|SNOMEDCT_US:30261008 owl:Class HP:0003200 biolink:NamedThing Ragged-red muscle fibers An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. hp0009lx5z Ragged-red fibres|Ragged-red fibers|Ragged red muscle fibers|Mitochondrial proliferation in muscle tissue|Ragged red muscle fibres|Ragged-red muscle fibres This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH). HP:0009076 UMLS:C3275417 human_phenotype owl:Class HP:0500042 biolink:NamedThing Latent hypermetropia A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye. hp0009lx5z Latent hyperopia 2018-02-02 18:41:23+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0031349 biolink:NamedThing Levotransposition of the great arteries A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery. hp0009lx5z L-TGA 2017-08-27 14:19:14+00:00 peter owl:Class HP:0031171 biolink:NamedThing Femoral spur A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck. hp0009lx5z Spurring of femur 2017-06-18 20:02:20+00:00 peter owl:Class HP:0033781 biolink:NamedThing Tapered tooth A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors. hp0009lx5z 2021-05-07 10:14:22+00:00 peter owl:Class HP:0033750 biolink:NamedThing Reduced functional residual capacity An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation. hp0009lx5z 2021-04-21 15:49:07+00:00 peter owl:Class HP:0025472 biolink:NamedThing Recurrent plantar mycosis A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching. hp0009lx5z 2017-05-14 12:31:56+00:00 HPO:probinson owl:Class HP:0006888 biolink:NamedThing Meningoencephalocele hp0009lx5z UMLS:C0266456|SNOMEDCT_US:52330001 human_phenotype owl:Class HP:0007439 biolink:NamedThing Generalized keratosis follicularis hp0009lx5z Generalised keratosis follicularis UMLS:C4024879 human_phenotype owl:Class HP:0030722 biolink:NamedThing Ectopic liver Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter. hp0009lx5z Ectopic liver tissue can occur in several different organs, but the gallbladder is the commonest site of origin. UMLS:C0431603|SNOMEDCT_US:253813000 owl:Class HP:0000145 biolink:NamedThing Transverse vaginal septum hp0009lx5z Transverse vaginal membrane UMLS:C1856006 human_phenotype owl:Class HP:0030016 biolink:NamedThing Dyspareunia Recurrent or persistent genital pain associated with sexual intercourse. hp0009lx5z Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two. UMLS:C1384606|MSH:D004414|SNOMEDCT_US:71315007 owl:Class HP:0031219 biolink:NamedThing Reduced radioactive iodine uptake A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. hp0009lx5z 2017-07-02 11:55:22+00:00 peter owl:Class HP:0031221 biolink:NamedThing Abnormal radioactive iodine uptake test result Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. hp0009lx5z 2017-07-02 12:00:25+00:00 peter owl:Class HP:0003292 biolink:NamedThing Decreased serum leptin A decreased concentration of leptin in the blood. hp0009lx5z Decreased serum leptin|Reduced circulating leptin level Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis. UMLS:C1837802 human_phenotype owl:Class HP:4000053 biolink:NamedThing Displaced fracture A type of fracture in which the ends of the fractured bone are no longer aligned. hp0009lx5z 2021-05-02 20:58:15+00:00 robinp owl:Class HP:0030461 biolink:NamedThing Abnormal timing of flash visual evoked potentials hp0009lx5z UMLS:C4072951 owl:Class HP:0006633 biolink:NamedThing Glenoid fossa hypoplasia Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. hp0009lx5z Hypoplastic glenoid fossa|Glenoid hypoplasia HP:0006632 UMLS:C1834384 human_phenotype owl:Class HP:0011707 biolink:NamedThing Mobitz I atrioventricular block Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals). hp0009lx5z Mobitz type 1 atrioventricular block|Wenckebach block Mobitz I atrioventricular block is associated with a normal QRS duration. peter 2012-04-11T07:25:17Z UMLS:C0264907|SNOMEDCT_US:54016002 human_phenotype owl:Class HP:0030479 biolink:NamedThing Abnormal amplitude of light-adapted flicker electroretinogram hp0009lx5z UMLS:C4072969 owl:Class HP:0000654 biolink:NamedThing Decreased light- and dark-adapted electroretinogram amplitude Descreased amplitude of eletrical response upon electroretinography. hp0009lx5z Reduced electroretinogram|Decreased electroretinogram response|Reduced ERG|Flattened or absent electroretinogram|Decreased ERG amplitude|Decreased amplitudes on flash visual electroretinogram|Decreased electroretinogram|Reduced or abolished electroretinogram|Decreased electroretinogram amplitude HP:0007689|HP:0007845|HP:0007636 UMLS:C1839025 human_phenotype owl:Class HP:0000272 biolink:NamedThing Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. hp0009lx5z Depressed malar region|Underdevelopment of malar bone|Malar hypoplasia|Flat cheekbone|Decreased size of malar bone|Hypotrophic malar bone|Zygomatic flattening The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. HP:0005455|HP:0000312|HP:0100846|HP:0005319|HP:0004642|HP:0000332|HP:0005443|HP:0004671|HP:0004658 UMLS:C4280651|UMLS:C1858085 human_phenotype owl:Class HP:0011142 biolink:NamedThing Age-related nuclear cataract A type of age-related cataract that primarily affects the nucleus of the lens. hp0009lx5z As the lens ages, new layers of fibres are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. peter 2011-06-27T09:49:20Z MSH:C563333|UMLS:C1832423 human_phenotype owl:Class HP:0012657 biolink:NamedThing Abnormal brain positron emission tomography A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain. hp0009lx5z Abnormal brain PET scan Note that while structural brain anomalies can cause abnormal brain PET scan results, structural abnormalities are detectable by multiple neuroimaging modalities and should be coded using terms from the hierarchy under 'Abnormality of nervous system morphology' (HP:0012639). peter 2014-02-15T11:22:18Z UMLS:C4022799 human_phenotype owl:Class HP:0500242 biolink:NamedThing Increased CSF homocarnosine concentration Abnormally increased levels of homocarnosine in cerebrospinal fluid. hp0009lx5z High homocarnosine levels in cerebrospinal fluid 2019-02-26 15:26:24+00:00 owl:Class HP:0009760 biolink:NamedThing Antecubital pterygium Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. hp0009lx5z Pterygium cubitale|Webbed elbow peter 2009-01-31T10:12:24Z UMLS:C1867439|MSH:C566738 human_phenotype owl:Class HP:0004442 biolink:NamedThing Sagittal craniosynostosis A kind of craniosynostosis affecting the sagittal suture. hp0009lx5z Craniosynostosis, sagittal|Early closure of midline skull joint|Sagittal suture synostosis|Craniosynostosis, sagittal suture|Midline skull joint closes early peter 2008-03-18T10:01:00Z UMLS:C0432123|SNOMEDCT_US:109418001 owl:Class HP:0045089 biolink:NamedThing Distinctive finding In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential. hp0009lx5z owl:Class HP:0011213 biolink:NamedThing EEG with photoparoxysmal response grade III Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation. hp0009lx5z peter 2011-11-19T12:59:57Z UMLS:C4023462 human_phenotype owl:Class HP:0007164 biolink:NamedThing Slowed slurred speech hp0009lx5z Slowed slurred speech UMLS:C4024929 human_phenotype owl:Class HP:0001350 biolink:NamedThing Slurred speech Abnormal coordination of muscles involved in speech. hp0009lx5z Slurred speech UMLS:C0234518|SNOMEDCT_US:289195008 owl:Class HP:0004758 biolink:NamedThing Effort-induced polymorphic ventricular tachycardia Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration. hp0009lx5z Catecholaminergic polymorphic ventricular tachycardia|Exercise-induced polymorphic ventricular tachycardia UMLS:C4025298 human_phenotype owl:Class HP:0040228 biolink:NamedThing Decreased level of plasminogen A decreased level of Plasminogen hp0009lx5z Hypoplasminogenemia Requested and created by members of the BRIDGE consortium UMLS:C4280715 owl:Class HP:0000737 biolink:NamedThing Irritability A proneness to anger, i.e., a condition of being easily bothered or annoyed. hp0009lx5z Irritable|Irritability UMLS:C2700617 owl:Class HP:0007708 biolink:NamedThing Absent inner eyelashes hp0009lx5z Absent inner eyelashes UMLS:C4024812 human_phenotype owl:Class HP:0033675 biolink:NamedThing Frailty A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised. hp0009lx5z 2021-03-01 15:45:15+00:00 There is no objective test for frailty. An operational definition recognizes frailty in an individual who has three out of the following five criteria: (i) low grip strength; (ii) low energy; (iii) slowed waking speed; (iv) low physical activity; and (v) unintentional weight loss. peter owl:Class HP:0006402 biolink:NamedThing Distal shortening of limbs hp0009lx5z Short outer part of limbs UMLS:C1840307 human_phenotype owl:Class HP:0032503 biolink:NamedThing Ameliorated by ethanol ingestion Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol). hp0009lx5z Ethanol reduces manifestations 2019-05-23 22:56:25+00:00 peter owl:Class HP:0004786 biolink:NamedThing Jejunal diverticula hp0009lx5z UMLS:C4025293 human_phenotype owl:Class HP:0010521 biolink:NamedThing Gait apraxia Gait apraxia affecting the ability to make walking movements with the legs. hp0009lx5z peter 2009-09-20T11:01:35Z SNOMEDCT_US:30767006|UMLS:C1510417|MSH:D020235 human_phenotype owl:Class HP:0100442 biolink:NamedThing Bullet-shaped distal phalanx of the 5th toe An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped outermost bone of the pinky toe|Bullet-shaped outermost bone of the little toe|Bullet-shaped outermost bone of the pinkie toe UMLS:C4022085 human_phenotype owl:Class HP:0007892 biolink:NamedThing Hypoplasia of the lacrimal punctum Underdevelopment of the lacrimal puncta. hp0009lx5z Hypoplasia of the lacrimal puncta|Hypoplastic lacrimal puncta UMLS:C4021564 human_phenotype owl:Class HP:0030799 biolink:NamedThing Scaphocephaly Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. hp0009lx5z Dolichocephaly is a term in wide use to describe any long narrow head, with a cephalic index usually below 75%. Scaphocephaly, derived from the Greek skaphe (a light boat or skiff), describes a specific variety of a long narrow head that resembles an inverted boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance to the skull, with the widest part of the skull in the temporal rather than parietal area and with palpable ridging over part or all of the sagittal suture (PMID:16156241). UMLS:C0265534|SNOMEDCT_US:4191007|MSH:D003398 owl:Class HP:0004913 biolink:NamedThing Intermittent lactic acidemia An intermittent (discontinuous) form of lactic acidemia. hp0009lx5z UMLS:C1844917 human_phenotype owl:Class HP:0032197 biolink:NamedThing Deep S wave in lead V5 Abnormal depth of the S wave in lead V5 of the electrocardiogram. hp0009lx5z 2019-01-19 13:39:21+00:00 The S wave refers to the negative deflection after an R wave within the QRS complex. This term refers to an abnormally deep (negative) deflection of the S wave in lead V5. peter owl:Class HP:0032303 biolink:NamedThing Lambda Bence Jones proteinuria The presence of free monoclonal lambda immunoglobulin light chains in the urine. hp0009lx5z 2019-02-12 23:23:21+00:00 peter owl:Class HP:0033660 biolink:NamedThing Hand paresthesia Tingling (often refered to as a pins and needles feeling) and numbness in the hand. hp0009lx5z Hand tingling 2021-02-27 14:33:17+00:00 peter owl:Class HP:0100253 biolink:NamedThing Abnormality of the medullary cavity of the long bones An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. hp0009lx5z Abnormality of the marrow cavity of the long bones doelkens 2010-07-14T05:09:21Z UMLS:C4021027 human_phenotype owl:Class HP:0033959 biolink:NamedThing Cortical radial artery intima/media arteriosclerosis Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. hp0009lx5z Arteriosclerosis within interlobular arterial intima/media 2021-06-24 12:33:40+00:00 peter owl:Class HP:0025608 biolink:NamedThing Cicatricial ectropion An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. hp0009lx5z 2018-01-13 22:49:08+00:00 Cicatricial ectropion may occur owing to burns, lacerations, or infection of the skin of the eyelid. HPO:probinson owl:Class HP:0010526 biolink:NamedThing Dysgraphia A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment. hp0009lx5z peter 2009-09-20T11:40:43Z SNOMEDCT_US:88278002|UMLS:C0234144|MSH:D000381 owl:Class HP:0033661 biolink:NamedThing Air crescent An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer. hp0009lx5z 2021-02-27 14:34:38+00:00 See Figure 3 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0012027 biolink:NamedThing Laryngeal edema An abnormal accumulation of fluid and swelling in the tissues of the larynx. hp0009lx5z Laryngeal oedema peter 2012-07-26T10:51:45Z SNOMEDCT_US:51599000|UMLS:C0023052|MSH:D007819 human_phenotype owl:Class HP:0008555 biolink:NamedThing Absent vestibular function Complete lack of functioning of the vestibular apparatus. hp0009lx5z UMLS:C4024656 human_phenotype owl:Class HP:0005133 biolink:NamedThing Right ventricular dilatation Enlargement of the chamber of the right ventricle. hp0009lx5z Dilated heart right ventricle UMLS:C0344893|SNOMEDCT_US:253522006|Fyler:1827|Fyler:2333 human_phenotype owl:Class HP:0100183 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 4th toe hp0009lx5z Enlarged end part of the middle bone of the 4th toe doelkens 2010-06-24T04:54:13Z UMLS:C4022238 human_phenotype owl:Class HP:0012478 biolink:NamedThing Temporomandibular joint ankylosis Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. hp0009lx5z Adhesion of the temporomandibular joint|Rigidity of the temporomandibular joint|Freezing of jaw joint|Freezing of the temporomandibular joint|Ankylosis of temporomandibular joint|Temporomandibular joint fusion peter 2013-11-28T07:24:24Z MSH:C536957|SNOMEDCT_US:50603008|UMLS:C0685924|UMLS:C0575010|SNOMEDCT_US:298231004|UMLS:C2931375|SNOMEDCT_US:91866004 human_phenotype owl:Class HP:0033054 biolink:NamedThing Myoclonic tremor A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures. hp0009lx5z peter owl:Class HP:0009027 biolink:NamedThing Foot dorsiflexor weakness Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. hp0009lx5z Foot extensor weakness|Foot drop|Inability to heel walk|Inability to walk on heels|Footdrop Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal. HP:0003377 SNOMEDCT_US:6077001|UMLS:C0085684|UMLS:C1866141 owl:Class HP:0006140 biolink:NamedThing Premature fusion of phalangeal epiphyses Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. hp0009lx5z Premature fusion of end part of digital bone UMLS:C1855620 human_phenotype owl:Class HP:0030219 biolink:NamedThing Semantic dementia A progressive loss of the ability to remember the meaning of words, faces and objects. hp0009lx5z Trouble remembering words MSH:D057180|UMLS:C0338462|SNOMEDCT_US:230288001 owl:Class HP:0002905 biolink:NamedThing Hyperphosphatemia An abnormally increased phosphate concentration in the blood. hp0009lx5z High blood phosphate levels UMLS:C0085681|MSH:D054559|SNOMEDCT_US:20165001|UMLS:C0553706 human_phenotype owl:Class HP:0410230 biolink:NamedThing Increased anti-nut food product IgE antibody level Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds. hp0009lx5z 2018-10-03 21:34:16+00:00 owl:Class HP:0004344 biolink:NamedThing Abnormality of cerebrosidase metabolism hp0009lx5z peter 2008-03-08T08:36:00Z UMLS:C4025349 human_phenotype owl:Class HP:0410360 biolink:NamedThing Increased core 1 O-glycan level An abnormal increase in the concentration of core 1 O-glycans on glycoproteins. hp0009lx5z Increased T-antigen concentration owl:Class HP:0003260 biolink:NamedThing Hydroxyprolinemia An increased concentration of hydroxyproline in the blood. hp0009lx5z High blood hydroxyproline levels Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter. SNOMEDCT_US:25739007|UMLS:C0268531|MSH:C562669 human_phenotype owl:Class HP:0012389 biolink:NamedThing Appendicular hypotonia Muscular hypotonia of one or more limbs. hp0009lx5z peter 2013-11-07T07:31:51Z UMLS:C4022919 human_phenotype owl:Class HP:0006367 biolink:NamedThing Crumpled long bones An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. hp0009lx5z Crumpled long bones UMLS:C1970497 human_phenotype owl:Class HP:0008166 biolink:NamedThing Decreased beta-galactosidase activity Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. hp0009lx5z Decreased beta galactosidase activity|Beta-galactosidase-1 deficiency|Beta-galactosidase deficiency in fibroblasts and white blood cells HP:0003644|HP:0008300 SNOMEDCT_US:238025006|MSH:D016537|UMLS:C1854788|UMLS:C1856559|UMLS:C0085131 human_phenotype owl:Class HP:0008744 biolink:NamedThing Abnormal aryepiglottic fold morphology An abnormality of the aryepiglottic fold. hp0009lx5z Abnormality of the aryepiglottic fold|Abnormal aryepiglottic folds The aryepiglottic fold is a fold of mucous membrane extending on each side between the lateral border of the epiglottis and the summit of the arytenoid cartilage. UMLS:C1849357 human_phenotype owl:Class HP:0030804 biolink:NamedThing Trachyonychia Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix. hp0009lx5z The most common histopathologic findings of trachyonychia are spongiosis and exocytosis of inflammatory cells in the nail epithelia1. Although idiopathic trachyonychia may be much more common than reported, it may present with various associated skin or mucosal diseases including alopecia areata, lichen planus, psoriasis, and eczema. Trachyonychia predominantly occurs in children, although it can affect people of all ages. Trachyonychia can improve spontaneously but may have a chronic course exceeding 6 years and result in cosmetic handicaps. UMLS:C0546956|SNOMEDCT_US:69192004 owl:Class HP:0030741 biolink:NamedThing Mediastinal teratoma A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs). hp0009lx5z Teratoma of the mediastinum UMLS:C1334682|NCIT:C6438 owl:Class HP:0011879 biolink:NamedThing Decreased platelet glycoprotein Ib-IX-V Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V. hp0009lx5z The glycoprotein Ib-IX-V complex forms a specific platelet membrane adhesion receptor, which binds the adhesive glycoprotein, von Willebrand factor (vWF), in the vessel wall or plasma. peter 2012-05-31T04:01:34Z UMLS:C4023150 human_phenotype owl:Class HP:0031524 biolink:NamedThing Ampulla of Vater carcinoma A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct. hp0009lx5z 2017-09-23 02:03:06+00:00 peter owl:Class HP:0041062 biolink:NamedThing Transient decreased circulating IgG2 A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation. hp0009lx5z Transient decreased IgG2 in blood owl:Class HP:0003689 biolink:NamedThing Multiple mitochondrial DNA deletions The presence of multiple deletions of mitochondrial DNA (mtDNA). hp0009lx5z Multiple mtDNA deletions This feature can be demonstrated by muscle biopsy. HP:0003801 UMLS:C3277376 human_phenotype owl:Class HP:0008160 biolink:NamedThing 3-hydroxydicarboxylic aciduria An increase in the level of 3-hydroxydicarboxylic acid in the urine. hp0009lx5z UMLS:C4024725 owl:Class HP:0011808 biolink:NamedThing Decreased patellar reflex Decreased intensity of the patellar reflex (also known as the knee jerk reflex). hp0009lx5z Decreased knee jerk reflex|Decreased patellar reflexes peter 2012-04-27T08:38:22Z UMLS:C3277184 human_phenotype owl:Class HP:0004919 biolink:NamedThing Galactose intolerance hp0009lx5z UMLS:C0016952|SNOMEDCT_US:190749000|MSH:D005693|SNOMEDCT_US:190745006 human_phenotype owl:Class HP:0030563 biolink:NamedThing Best corrected visual acuity 1.0 LogMAR hp0009lx5z UMLS:C4073036 owl:Class HP:0100505 biolink:NamedThing Low levels of vitamin B5 A reduced concentration of vitamin B5. hp0009lx5z Vitamin B5 deficiency doelkens 2010-12-17T06:13:04Z UMLS:C4022038 human_phenotype owl:Class HP:0005321 biolink:NamedThing Mandibulofacial dysostosis A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. hp0009lx5z Treacher collins syndrome SNOMEDCT_US:82203000|MSH:D008342|UMLS:C0242387 human_phenotype owl:Class HP:4000046 biolink:NamedThing Oblique fracture A type of fracture in which there is a diagonal break across the bone. hp0009lx5z 2021-05-02 20:51:13+00:00 robinp owl:Class HP:0002297 biolink:NamedThing Red hair hp0009lx5z Red hair|Red hair color|Red head (hair color)|Red hair colour|Ginger hair colour|Ginger hair color SNOMEDCT_US:297997007|UMLS:C0239803 owl:Class HP:0008185 biolink:NamedThing Precocious puberty in males The onset of puberty before the age of 9 years in boys. hp0009lx5z Early onset of puberty in males|Male precocious puberty UMLS:C1859979 human_phenotype owl:Class HP:0008921 biolink:NamedThing Neonatal short-limb short stature A type of short-limbed dwarfism that is manifest beginning in the neonatal period. hp0009lx5z Short limb dwarfism recognisable at birth|Dwarfism, neonatal short-limbed|Short limb dwarfism recognizable at birth|Short-limb dwarfism identifiable at birth|Short-limb dwarfism identifiable neonatally|Neonatal short-limbed dwarfism|Short-limbed dwarfism identifiable at birth HP:0008924|HP:0008894|HP:0008902|HP:0001536 UMLS:C1850171 human_phenotype owl:Class HP:0033318 biolink:NamedThing Fibrocellular crescent A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. hp0009lx5z 2020-11-29 13:33:28+00:00 peter owl:Class HP:0011980 biolink:NamedThing Cholesterol gallstones Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. hp0009lx5z peter 2012-07-18T09:16:15Z UMLS:C0856727 human_phenotype owl:Class HP:0005028 biolink:NamedThing Widened proximal tibial metaphyses hp0009lx5z Wide innermost wide portion of shinbone bone|Wide innermost wide portion of shankbone bone UMLS:C1836187 human_phenotype owl:Class HP:0011298 biolink:NamedThing Prominent digit pad A soft tissue prominence of the ventral aspects of the fingertips or toe tips. hp0009lx5z Prominent digit pad The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym "fetal fingertip pads" should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term "Persistent fetal pads" as this term implies knowledge of the natural history of this finding, which may or may not be known. peter 2012-02-11T07:18:29Z UMLS:C4023424 human_phenotype owl:Class HP:0031601 biolink:NamedThing P pulmonale The presence of tall, peaked P waves in EKG lead II. hp0009lx5z 2017-10-15 14:02:48+00:00 P pulomonale may indicate right atrial enlargement, usually due to pulmonary hypertension. peter owl:Class HP:0040233 biolink:NamedThing Factor XIII subunit A deficiency Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. hp0009lx5z Reduced factor XIII, subunit A Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium UMLS:C2750514|MSH:C567691 owl:Class HP:0002563 biolink:NamedThing Constrictive pericarditis Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium. hp0009lx5z SNOMEDCT_US:85598007|UMLS:C0031048|MSH:D010494 human_phenotype owl:Class HP:0008480 biolink:NamedThing Cervical spondylosis The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. hp0009lx5z Cervical oestoarthritis|Neck arthritis SNOMEDCT_US:387800004|UMLS:C0263854|UMLS:C1384641|MSH:D055009|SNOMEDCT_US:387801000 owl:Class HP:0410301 biolink:NamedThing Partial absence of specific antibody response to unconjugated pneumococcus vaccine A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:03:40+00:00 owl:Class HP:0005897 biolink:NamedThing Severe generalized osteoporosis Severe degree of osteoporosis. hp0009lx5z Severe, generalized osteoporosis|Severe generalised osteoporosis|Severe, generalised osteoporosis HP:0005838 UMLS:C1859443 human_phenotype owl:Class HP:0010740 biolink:NamedThing Osteopathia striata A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. hp0009lx5z doelkens 2010-04-21T07:30:24Z SNOMEDCT_US:82663009|UMLS:C0265513 human_phenotype owl:Class HP:0004289 biolink:NamedThing Sclerotic foci in hand bones hp0009lx5z UMLS:C4025367 human_phenotype owl:Class HP:0008773 biolink:NamedThing Aplasia/Hypoplasia of the middle ear Aplasia or developmental hypoplasia of all or part of the middle ear. hp0009lx5z Absent/small middle ear|Absent/underdeveloped middle ear|Hypoplastic/aplastic middle ear structures|Middle ear hypoplasia/aplasia peter 2008-04-04T05:47:00Z HP:0008533|HP:0008548 UMLS:C4021529 human_phenotype owl:Class HP:0030903 biolink:NamedThing Grasp reflex A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]. hp0009lx5z Palmar grasp reflex owl:Class HP:0033206 biolink:NamedThing Hyperactive Achilles reflex Increased intensity of the Achilles reflex. hp0009lx5z Hyperactive ankle reflex|Hyperactive ankle jerk reflex 2020-10-11 14:41:27+00:00 peter owl:Class HP:0025330 biolink:NamedThing Downgaze palsy A limitation of the ability to direct one's gaze below the horizontal meridian. hp0009lx5z Supranuclear downgaze palsy|Downgaze paresis 2017-02-11 11:41:16+00:00 HPO:probinson owl:Class HP:0012766 biolink:NamedThing Widened cerebral subarachnoid space An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. hp0009lx5z hecht 2014-04-06T11:08:12Z UMLS:C4022733 human_phenotype owl:Class HP:0006200 biolink:NamedThing Widened distal phalanges hp0009lx5z Widened outermost bone of limb UMLS:C1862421 human_phenotype owl:Class HP:0002749 biolink:NamedThing Osteomalacia Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. hp0009lx5z Softening of the bones SNOMEDCT_US:4598005|UMLS:C0029442 human_phenotype owl:Class HP:0009915 biolink:NamedThing Corneal asymmetry The presence of a size difference between the left and right cornea. hp0009lx5z Asymmetry of the corneas peter 2009-05-02T05:06:20Z UMLS:C4021373 human_phenotype owl:Class HP:0001615 biolink:NamedThing Hoarse cry hp0009lx5z Hoarse cry UMLS:C2678303 human_phenotype owl:Class HP:0025573 biolink:NamedThing Mild myopia A mild form of myopia with up to -3.00 diopters. hp0009lx5z 2017-12-14 14:38:05+00:00 HPO:probinson owl:Class HP:0040061 biolink:NamedThing Osteosclerosis of the radius hp0009lx5z HPO:skoehler UMLS:C4022460 owl:Class HP:0025390 biolink:NamedThing Reticular pattern on pulmonary HRCT On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. hp0009lx5z 2017-04-22 12:55:23+00:00 The constituents of the reticular pattern may be all or some of the following: interlobular septal thickening, intralobular interstitial thickening, wall cysts of honeycombing, peribronchovascular interstitial thickening and traction bronchiectasis/bronchiolectasis HPO:probinson owl:Class HP:0000179 biolink:NamedThing Thick lower lip vermilion Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). hp0009lx5z Thick vermilion border of lower lip|Prominent lower lip vermilion|Increased volume of lower lip vermilion|Increased volume of lower lip|Full lower lip vermilion|Increased height of lower lip vermilion|Prominent lower lip|Thick lower lip|Thick red part of the lower lip|Plump lower lip|Full lower lip Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. HP:0000170 UMLS:C1839739|UMLS:C2053437 human_phenotype owl:Class HP:0011692 biolink:NamedThing Supraventricular tachycardia with a concealed accessory pathway on the right free wall hp0009lx5z peter 2012-04-10T10:37:37Z UMLS:C4023229 human_phenotype owl:Class HP:0032344 biolink:NamedThing Upslanting toenail Upturned concavity of toenails. hp0009lx5z Ski-jump toenail|Upturned toenail 2019-02-21 13:14:43+00:00 See Figure 1 of PMID:25776851. peter owl:Class HP:0030069 biolink:NamedThing Primary central nervous system lymphoma A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. hp0009lx5z Primary CNS lymphoma Primary central nervous system lymphoma (PCNSL) is defined as the involvement of brain, leptomeninges, cerebrospinal fluid, eyes or spinal cord by an extranodal non-Hodgkin lymphoma (NHL) without evidence of a systemic lymphoma at the time of diagnosis. It represents 0.8 to 6.6% of all primary CNS tumors UMLS:C0280803|SNOMEDCT_US:21964009|SNOMEDCT_US:307649006 owl:Class HP:0000727 biolink:NamedThing Frontal lobe dementia hp0009lx5z UMLS:C0338455|SNOMEDCT_US:278857002 owl:Class HP:0025176 biolink:NamedThing Intralobular interstitial thickening A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance. hp0009lx5z 2016-12-04 19:39:14+00:00 HPO:probinson owl:Class HP:0011591 biolink:NamedThing Left aortic arch with cervical origin of the right subclavian artery hp0009lx5z peter 2012-04-08T01:57:40Z UMLS:C4023281 human_phenotype owl:Class HP:0030723 biolink:NamedThing Congenital megalourethra Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. hp0009lx5z UMLS:C4280800 owl:Class HP:0033310 biolink:NamedThing Osmotic diarrhea Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. hp0009lx5z 2020-11-28 22:20:52+00:00 Osmotic diarrhea involves an unabsorbed substance that draws water from the plasma into the intestinal lumen along osmotic gradients. Secretory diarrhea results from disordered electrolyte transport and, despite the term, is more commonly caused by decreased absorption rather than net secretion. Inflammatory diseases cause diarrhea with exudative, secretory, or osmotic components. peter owl:Class HP:0200148 biolink:NamedThing Abnormal liver function tests during pregnancy hp0009lx5z Abnormal liver function tests during pregnancy, resolves postpartum|Abnormal liver function tests during pregnancy sebastiankohler 2013-06-13T01:01:21Z UMLS:C2750654|UMLS:C4021883 human_phenotype owl:Class HP:0032605 biolink:NamedThing High renal tubular epithelial cell N/C ratio At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. hp0009lx5z High N/C ratio of renal tubular epithelial cells peter owl:Class HP:0025258 biolink:NamedThing Stiff neck A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. hp0009lx5z Neck stiffness|Stiff neck 2016-12-18 01:06:15+00:00 HPO:probinson owl:Class HP:0030118 biolink:NamedThing Reduced muscle fiber emerin Immunohistochemistry reveals reduced emerin protein in the muscle biopsy. hp0009lx5z Reduced muscle fibre emerin UMLS:C4022627 owl:Class HP:0011330 biolink:NamedThing Metopic synostosis Premature fusion of the metopic suture. hp0009lx5z Metopic suture craniosynostosis|Metopic craniosynostosis peter 2012-02-25T03:52:01Z SNOMEDCT_US:109409003|MSH:C562951|UMLS:C0432122|MSH:D003398|UMLS:C1860819 human_phenotype owl:Class HP:0004689 biolink:NamedThing Short fourth metatarsal Short fourth metatarsal bone. hp0009lx5z Short 4th long bone of foot|Short fourth metatarsus|Bilateral fourth metatarsal shortening|Short fourth metatarsals UMLS:C1848514 human_phenotype owl:Class HP:0033817 biolink:NamedThing Miliary Characterized by numerous small lesions said to resemble millet seed. hp0009lx5z 2021-05-09 12:13:42+00:00 peter owl:Class HP:0007765 biolink:NamedThing Deep anterior chamber Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. hp0009lx5z Deep anterior chamber can be seen in disorders such as congenital microphakia and buphthalmos. UMLS:C0423280|SNOMEDCT_US:246991003 human_phenotype owl:Class HP:0033541 biolink:NamedThing Irreversible airflow obstruction Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. hp0009lx5z Irreversible pulmonary obstruction 2021-01-20 14:56:25+00:00 peter owl:Class HP:0030717 biolink:NamedThing Meconium peritonitis Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications. hp0009lx5z UMLS:C0270250|SNOMEDCT_US:57341009 owl:Class HP:0100436 biolink:NamedThing Bullet-shaped middle phalanx of the 5th toe An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. hp0009lx5z Bullet-shaped middle bone of the pinkie toe|Bullet-shaped middle bone of the little toe|Bullet-shaped middle bone of the pinky toe UMLS:C4022091 human_phenotype owl:Class HP:0025303 biolink:NamedThing Episodic Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present. hp0009lx5z Now and then 2016-12-21 00:51:43+00:00 In our definition, episodic is synonymous with intermittent and recurrent. The term does not imply any particular temporal pattern of the recurrence. HPO:probinson owl:Class HP:0025401 biolink:NamedThing Staring gaze An abnormality in which the eyes are held permanently wide open. hp0009lx5z Staring eyes 2017-04-22 14:03:28+00:00 This is a neurological anomaly that can be observed in Parkinson and certain other diseases. HPO:probinson owl:Class HP:0032085 biolink:NamedThing Aortic elastic fiber disorganization Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers. hp0009lx5z Aortic elastic fibre disorganisation 2018-10-14 14:58:51+00:00 This rarer process is distinct from fragmentation and loss as the fibers acquire a more haphazard, poorly organized appearance, with loss of the usual parallel/concentric arrangement of elastic fibers within the lamellar unit. This finding is noticeable when at high power, and the orientation of the lamellar units parallel to the aortic lumen is lost. The use of an elastic stain is essential to identify this lesion. Disorganization of elastic fibers can be seen in conjunction with smooth muscle cell disorganization. A poorly oriented aortic specimen may appear to have disorganization and should not be confused with the real entity. This rarer entity should be commented upon, when present as it represents a more severe feature of medial degeneration, but is not essential for routine surgical pathology reporting. peter owl:Class HP:0007438 biolink:NamedThing Mottled pigmentation of the trunk and proximal extremities hp0009lx5z UMLS:C1851551 human_phenotype owl:Class HP:0030785 biolink:NamedThing Mediastinal cystic lymphangioma A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors. hp0009lx5z Thoracic cystic lymphangioma|Intrathoracic cystic hygroma UMLS:C4280770 owl:Class HP:0011758 biolink:NamedThing Pituitary acidophilic stem cell adenoma hp0009lx5z peter 2012-04-22T03:03:47Z UMLS:C4023201 human_phenotype owl:Class HP:5000005 biolink:NamedThing Anti-CASPR2 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2). hp0009lx5z Anti-contactin-associated protein-like 2 antibody|Anti-Caspr2 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0006851 biolink:NamedThing Symmetric spinal nerve root neurofibromas Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. hp0009lx5z Spinal nerve root neurofibromas, symmetric, multiple UMLS:C1834236 human_phenotype owl:Class HP:0040181 biolink:NamedThing Chapped lip Cracking, fissuring, and peeling of the skin of the lips. hp0009lx5z Perioral dermatitis|Cheilitis simplex|Common cheilitis|Dry lips|Chapped lip|Chapped lips SNOMEDCT_US:402294001|SNOMEDCT_US:238751002|MSH:D019557|UMLS:C0263449|UMLS:C0424489|SNOMEDCT_US:248182008|SNOMEDCT_US:16459000 owl:Class HP:0031726 biolink:NamedThing Incyclotropia A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other. hp0009lx5z 2018-01-14 15:35:57+00:00 peter owl:Class HP:0031374 biolink:NamedThing Ankle weakness Reduced strength of the muscles that lift or otherwise move the foot at the ankle. hp0009lx5z 2017-09-02 01:47:35+00:00 peter owl:Class HP:0000497 biolink:NamedThing Globe retraction and deviation on abduction hp0009lx5z UMLS:C4025848 human_phenotype owl:Class HP:0010886 biolink:NamedThing Osteochondritis Dissecans A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. hp0009lx5z Osteochondrosis dissecans Joints that are most often affected by Osteochondrosis dissecans are elbow and hip, but also wrist and ankel joints. sdoelken 2010-09-24T10:15:07Z SNOMEDCT_US:82562007|UMLS:C0029421|MSH:D010008 human_phenotype owl:Class HP:0032891 biolink:NamedThing Focal aware motor seizure with version A focal motor seizure with version characterized by retained awareness throughout the seizure. hp0009lx5z Focal motor aware seizure with version peter owl:Class HP:0010849 biolink:NamedThing EEG with spike-wave complexes (>3.5 Hz) The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). hp0009lx5z EEG with 3-4-Hz spike waves peter 2010-07-10T08:22:40Z HP:0007261 UMLS:C4023684|UMLS:C4020765 human_phenotype owl:Class HP:0008094 biolink:NamedThing Widely spaced toes An overall widening of the spaces between the digits. hp0009lx5z Widely spaced toes This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap). HP:0008077 UMLS:C1969238 human_phenotype owl:Class HP:0003246 biolink:NamedThing Prominent scrotal raphe Increased size of the ridge of tissue that extends along the midline of the scrotum. hp0009lx5z Prominent perineal raphe UMLS:C1852407 human_phenotype owl:Class HP:0040182 biolink:NamedThing Inappropriate sinus tachycardia Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands. hp0009lx5z UMLS:C1881170|SNOMEDCT_US:425582007 owl:Class HP:0011316 biolink:NamedThing Left unicoronal synostosis Synostosis affecting only the left coronal suture. hp0009lx5z peter 2012-02-25T01:10:32Z UMLS:C4023417 human_phenotype owl:Class HP:0003163 biolink:NamedThing Elevated urinary delta-aminolevulinic acid An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. hp0009lx5z Elevated urinary delta-aminolevulinic acid Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis. UMLS:C1848702 human_phenotype owl:Class HP:0410325 biolink:NamedThing House dust mite allergy Hypersensitivity in form of an adverse immune reaction against house dust mites. hp0009lx5z IgE-mediated house dust mite allergy|Allergy to house dust mites|Immunoglobulin E-mediated house dust mite allergy|House dust mite allergy owl:Class HP:0000820 biolink:NamedThing Abnormality of the thyroid gland An abnormality of the thyroid gland. hp0009lx5z Abnormality of the thyroid gland|Thyroid disease|Thyroid abnormality MSH:D013959|SNOMEDCT_US:14304000|UMLS:C0040128 owl:Class HP:0011594 biolink:NamedThing Right aortic arch with retroesophageal diverticulum of Kommerell Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch. hp0009lx5z peter 2012-04-08T02:07:10Z UMLS:C4023279 human_phenotype owl:Class HP:0033774 biolink:NamedThing Impaired renal tubular reabsorption of uric acid Decreased renal tubular reabsorption of uric acid. hp0009lx5z 2021-05-04 14:21:45+00:00 Uric acid excretion rate is the product of the filtered load (which can be approximated as plasma ultrafilterable urate multiplied by tge glomerular filtration rate) and fractional excretion of urate (FEUA), which represents the percentage of filtered urate that is excreted in the final urine. peter owl:Class HP:0032312 biolink:NamedThing Decreased circulating globulin level An abnormally reduced concentration of globulins in the blood. hp0009lx5z 2019-02-14 11:02:26+00:00 peter owl:Class HP:0012517 biolink:NamedThing Reduced catalase level An abnormally decreased amount of catalase level. hp0009lx5z Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen. peter 2013-12-09T06:49:18Z UMLS:C4022869 human_phenotype owl:Class HP:0500231 biolink:NamedThing Abnormal CSF pyruvate family amino acid concentration Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. hp0009lx5z Abnormal pyruvate-family amino acid levels in cerebrospinal fluid 2019-02-25 20:53:35+00:00 owl:Class HP:0006510 biolink:NamedThing Chronic pulmonary obstruction An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. hp0009lx5z Chronic obstructive pulmonary disease|COPD COPD is usually conceptualized as a disease entity. It is heterogeneous histologically and pathogenically, and conventionally includes emphysema and chronic bronchitis, It is included as a phenotype term as COPD is often annotated as a feature of other diseases. HP:0006541 SNOMEDCT_US:13645005|UMLS:C0024117|MSH:D029424 owl:Class HP:0011635 biolink:NamedThing Partial diaphragmatic absence of pericardium Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. hp0009lx5z peter 2012-04-08T10:13:04Z UMLS:C4023254 human_phenotype owl:Class HP:0008000 biolink:NamedThing Decreased corneal reflex An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. hp0009lx5z Reduced corneal reflex|Decreased blink reflex MSH:D012021|SNOMEDCT_US:103254005|UMLS:C0151572 human_phenotype owl:Class HP:0020144 biolink:NamedThing Calcium phosphate crystalluria The presence of calcium phosphate crystals in the urine. hp0009lx5z Calcium phosphate crystals are pleiomorphic, often appearing as birefringent stars or needles, occurring in isolation or in clumps. Plates are granular and non-birefringent. robinp 2019-07-05 19:05:11+00:00 owl:Class HP:0000085 biolink:NamedThing Horseshoe kidney A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. hp0009lx5z Horseshoe kidneys|Horseshoe kidney|Fused kidneys SNOMEDCT_US:41729002|UMLS:C0221353|MSH:D000069337|Fyler:4507 human_phenotype owl:Class HP:0001566 biolink:NamedThing Widely-spaced maxillary central incisors Increased distance between the maxillary central permanent incisor tooth. hp0009lx5z Diastema between maxillary central incisors|Widely spaced upper incisors|Wide gap between upper central incisors|Separated superior central incisors|Gap between upper front teeth|Central incisor gap|Diastema between upper incisors|Wide upper central incisors|Diastasis of the central incisors|Diastema between upper front teeth HP:0006300|HP:0006324|HP:0000669|HP:0001570 UMLS:C4280252|UMLS:C1845110|UMLS:C1835762 human_phenotype owl:Class HP:0031083 biolink:NamedThing Abnormal response to human chorionic gonadotrophin stimulation test An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors. hp0009lx5z Abnormal response to hCG stimulation test 2017-05-28 23:53:03+00:00 peter owl:Class HP:0031129 biolink:NamedThing Impaired phorbol myristate acetate-induced platelet aggregation Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA. hp0009lx5z 2017-06-10 12:32:36+00:00 peter owl:Class HP:0031745 biolink:NamedThing Superior rectus muscle overaction Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. hp0009lx5z 2018-01-21 14:11:53+00:00 peter owl:Class HP:0002150 biolink:NamedThing Hypercalciuria hp0009lx5z Elevated urine calcium levels|Hypercalcinuria UMLS:C0020438|MSH:D053565|SNOMEDCT_US:71938000 human_phenotype owl:Class HP:0010512 biolink:NamedThing Adrenal calcification Calcification within the adrenal glands. hp0009lx5z This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts. peter 2009-09-19T03:34:26Z UMLS:C0271750|SNOMEDCT_US:12286000 human_phenotype owl:Class HP:0030607 biolink:NamedThing Reduced OCT-measured macular thickness hp0009lx5z UMLS:C4073077 owl:Class HP:0045002 biolink:NamedThing Absent ossification of the trapezium hp0009lx5z HPO:skoehler UMLS:C4022408 owl:Class HP:0012508 biolink:NamedThing Metamorphopsia A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. hp0009lx5z peter 2013-12-08T08:21:46Z UMLS:C0271185|MSH:D014786|SNOMEDCT_US:42134006 human_phenotype owl:Class HP:0009743 biolink:NamedThing Distichiasis Double rows of eyelashes. hp0009lx5z Distichiasis of eyelid eyelashes Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes. peter 2009-01-31T02:07:50Z SNOMEDCT_US:95339000|UMLS:C0423848 human_phenotype owl:Class HP:0100710 biolink:NamedThing Impulsivity Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress. hp0009lx5z Impulsivity|Impulsive doelkens 2011-04-07T05:36:16Z UMLS:C0021125|MSH:D007175 owl:Class HP:0003955 biolink:NamedThing Bone-in-a-bone appearance of forearm A descriptive term for a forearm bone that appears to have an additional bone within it on radiography. hp0009lx5z Bone-in-a-bone appearance of forearm UMLS:C4025482 human_phenotype owl:Class HP:0025485 biolink:NamedThing Vaginal adenosis Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life. hp0009lx5z 2017-05-14 16:40:27+00:00 Spontaneous vaginal adenosis appears to be a fairly common (present in about 10% of adult women) but mostly insignificant coincidental finding. In women prenatally exposed to diethylstilboestrol (DES), vaginal adenosis may arise in up to 90% and is associated with a high risk of vaginal carcinoma. HPO:probinson owl:Class HP:0012689 biolink:NamedThing Abnormal pineal melatonin secretion An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland. hp0009lx5z The rhythm of melatonin synthesized in and released from the pineal gland is characterized by a prominent nocturnal peak, which also contains temporal information that had originated in the suprachiasmatic nucleus. Strong reductions of circulating melatonin are also observed in numerous disorders and diseases, including Alzheimer's disease, various other neurological and stressful conditions, pain, cardiovascular diseases, cases of cancer, endocrine and metabolic disorders, in particular diabetes type 2. peter 2014-03-22T01:16:40Z UMLS:C4022777 human_phenotype owl:Class HP:0007941 biolink:NamedThing Limited extraocular movements hp0009lx5z Limited extraocular movement UMLS:C1858427 human_phenotype owl:Class HP:0008237 biolink:NamedThing Hypothalamic hypothyroidism A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. hp0009lx5z Tertiary hypothyroidism The simultaneous occurrence a low thyroid hormone level and a normal or low serum level of thyroid stimulating hormone (TSH) in a patient with hypothyroidism establishes the diagnosis of secondary hypothyroidism. The administration of thyrotropin releasing hormone (TRH), which is normally synthesized and released by the hypothalamus, enables the physician to distinguish between pituitary and hypothalamic causes of hypothyroidism. TRH will normally cause the release of TSH from the pituitary gland. When the hypothalamus does not synthesize or release TRH, the administration of exogenous TRH will result in prompt rise of serum TSH. To date, the cases reported of pituitary hypothyroidism. Hypothalamic hypothyroidism, on the other hand, may either be idiopathic or result from demonstrable hypothalamic disease. UMLS:C0220998|SNOMEDCT_US:37429009 human_phenotype owl:Class HP:0040262 biolink:NamedThing Glue ear Middle ear is filled with glue-like fluid instead of air. hp0009lx5z http://patient.info/health/glue-ear-leaflet SNOMEDCT_US:78868004|UMLS:C0029883|MSH:D010034 owl:Class HP:0030571 biolink:NamedThing Pinhole visual acuity 0.3 LogMAR hp0009lx5z UMLS:C4073044 owl:Class HP:0045082 biolink:NamedThing Decreased body mass index Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. hp0009lx5z Decreased BMI owl:Class HP:0031390 biolink:NamedThing Reduced MHC II surface expression A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. hp0009lx5z 2017-09-02 17:00:49+00:00 peter owl:Class HP:0031497 biolink:NamedThing Mucinous colorectal carcinoma A subtype of colorectal carcinoma with mucin lakes. hp0009lx5z 2017-09-18 00:52:44+00:00 peter owl:Class HP:0010704 biolink:NamedThing 1-2 finger syndactyly Syndactyly with fusion of fingers one and two. hp0009lx5z Webbed thumb and index finger|Webbed 1st-2nd finger sdoelken 2010-03-26T05:07:14Z UMLS:C4023732 human_phenotype owl:Class HP:0005180 biolink:NamedThing Tricuspid regurgitation Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. hp0009lx5z Tricuspid insufficiency|Tricuspid valve regurgitation This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316). HP:0004753 MSH:D014262|SNOMEDCT_US:111287006|UMLS:C0040961|Fyler:1161 owl:Class HP:0031082 biolink:NamedThing Impaired growth-hormone response to glucagon stimulation test Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test. hp0009lx5z 2017-05-28 23:49:45+00:00 peter owl:Class HP:0031111 biolink:NamedThing Cutaneous hamartoma A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin. hp0009lx5z Skin hamartoma 2017-08-31 23:10:53+00:00 robinp owl:Class HP:0032204 biolink:NamedThing Chronic active Epstein-Barr virus infection Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed. hp0009lx5z 2019-01-20 15:00:27+00:00 The mechanisms by which an EBV infection becomes chronic active are likely to be heterogenous and may involve host immune factors, viral factors, or both. peter owl:Class HP:0030882 biolink:NamedThing Coronary artery aneurysm Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. hp0009lx5z Coronary arterial dilatation|Coronary artery ectasia|Coronary artery dilatation Fyler:3129|UMLS:C4255100 owl:Class HP:0003528 biolink:NamedThing Elevated calcitonin hp0009lx5z Elevated calcitonin Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone. UMLS:C1868394 human_phenotype owl:Class HP:0025081 biolink:NamedThing Darier's sign A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. hp0009lx5z 2016-10-12 23:46:34+00:00 HPO:probinson owl:Class HP:0011503 biolink:NamedThing Aplasia of the fovea Congenital absence of the fovea. hp0009lx5z Absent fovea Aplasia of the fovea can occur in aniridia and albinism. peter 2012-04-06T08:40:21Z UMLS:C4023324 human_phenotype owl:Class HP:0025290 biolink:NamedThing Upper-body predominance Applies to an abnormality that affects the arms, trunk, head more than the legs. hp0009lx5z 2016-12-18 16:11:12+00:00 HPO:probinson owl:Class HP:0100421 biolink:NamedThing Partial duplication of the middle phalanx of the 5th toe Partial duplication of the middle phalanx of the 5th toe. hp0009lx5z Partial duplication of the middle bone of the pinkie toe|Partial duplication of the middle phalanx of the fifth toe|Partial duplication of the middle bone of the little toe|Partial duplication of the middle bone of the pinky toe UMLS:C4020978 human_phenotype owl:Class HP:0009644 biolink:NamedThing Curved distal phalanx of the thumb A deviation from the normal straight shape of the distal phalanx of the thumb. hp0009lx5z Curved outermost bone of the thumb doelkens 2009-01-29T05:19:33Z UMLS:C4024259 human_phenotype owl:Class HP:0008697 biolink:NamedThing Hypoplasia of the fallopian tube Developmental hypoplasia of the fallopian tube. hp0009lx5z Rudimentary fallopian tubes|Underdeveloped fallopian tube UMLS:C1968706 human_phenotype owl:Class HP:0008655 biolink:NamedThing Aplasia/Hypoplasia of the fallopian tube Aplasia or developmental hypoplasia of the fallopian tube. hp0009lx5z Absent or rudimentary fallopian tubes|Absent/underdeveloped fallopian tube|Absent/small fallopian tube UMLS:C4020791|UMLS:C4024646 human_phenotype owl:Class HP:0005802 biolink:NamedThing Coalescence of tarsal bones hp0009lx5z UMLS:C4025130 human_phenotype owl:Class HP:0032048 biolink:NamedThing Focal cortical dysplasia type Ia A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination. hp0009lx5z 2018-09-16 11:03:23+00:00 peter owl:Class HP:0031283 biolink:NamedThing Tufted hairs The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice. hp0009lx5z 2017-08-13 17:39:57+00:00 peter owl:Class HP:0008469 biolink:NamedThing Cervical vertebral dysplasia Dysplasia of the cervical vertebral column. hp0009lx5z MSH:C566140|UMLS:C1861693 human_phenotype owl:Class HP:0100844 biolink:NamedThing Pancreatic fistula hp0009lx5z doelkens 2011-06-09T06:50:10Z SNOMEDCT_US:25803005|MSH:D010185|UMLS:C0030290 human_phenotype owl:Class HP:0009739 biolink:NamedThing Hypoplasia of the antihelix Developmental hypoplasia of the antihelix. hp0009lx5z Hypoplastic antihelix peter 2009-01-31T12:41:43Z UMLS:C4021394 human_phenotype owl:Class HP:0008796 biolink:NamedThing Externally rotated hips hp0009lx5z Externally rotated hips UMLS:C1846339 human_phenotype owl:Class HP:0005136 biolink:NamedThing Mitral annular calcification Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus. hp0009lx5z Premature calcification of mitral annulus MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual. UMLS:C1835130 owl:Class HP:0030170 biolink:NamedThing Cystic artery pseudoaneurysm Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue. hp0009lx5z UMLS:C4022601 owl:Class HP:0005338 biolink:NamedThing Sparse lateral eyebrow Decreased density/number and/or decreased diameter of lateral eyebrow hairs. hp0009lx5z Laterally sparse eyebrow|Lateral thinning of eyebrows|Lateral hypoplasia of eyebrows|Sparse lateral eyebrows|Laterally sparse eyebrows|Limited hair on end of eyebrow Abnormal sparseness of the eyebrows laterally. HP:0009923|HP:0004521 UMLS:C1857206 human_phenotype owl:Class HP:0007987 biolink:NamedThing Progressive visual field defects hp0009lx5z UMLS:C4024760 human_phenotype owl:Class HP:0033339 biolink:NamedThing Increased circulating inosine concentration An increased concentration of inosine in the blood circulation. hp0009lx5z 2020-11-29 19:04:53+00:00 A purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. peter owl:Class HP:0031446 biolink:NamedThing Erosion of oral mucosa Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. hp0009lx5z 2017-09-17 14:19:12+00:00 peter owl:Class HP:0100407 biolink:NamedThing Complete duplication of the distal phalanx of the 3rd toe Complete duplication of distal phalanx of third toe. hp0009lx5z Complete duplication of the outermost bone of the 3rd toe|Complete duplication of the distal phalanx of the third toe UMLS:C4020990 human_phenotype owl:Class HP:0100353 biolink:NamedThing Contracture of the distal interphalangeal joint of the 3rd toe The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. hp0009lx5z UMLS:C4022132 human_phenotype owl:Class HP:0032654 biolink:NamedThing Impaired flow-mediated arterial dilatation Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery. hp0009lx5z Endothelial dysfunction The diameter of the target artery is measured by high-resolution external vascular ultrasound in response to an increase in blood flow (causing shear-stress) during reactive hyperaemia (induced by cuff inflation and then deflation). This leads to endothelium-dependent dilatation; the response is contrasted with that to sublingual nitroglycerin, an endothelium-independent dilator. The artery is scanned and the diameter measured during three conditions; at baseline, during reactive hyperaemia (induced by inflation and then deflation of a sphygmomanometer cuff around the limb, distal to the scanned part of the artery) and finally after administration of sublingual nitroglycerin using a normal antianginal dose of 400 microgram (which causes endothelium-independent smooth muscle mediated vasodilatation). peter owl:Class HP:0032539 biolink:NamedThing Joint extensor surface localization Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint. hp0009lx5z 2019-05-27 13:48:37+00:00 peter owl:Class HP:0032664 biolink:NamedThing Adversive status epilepticus A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus. hp0009lx5z peter owl:Class HP:0100773 biolink:NamedThing Cartilage destruction hp0009lx5z Cartilage destruction doelkens 2011-06-07T05:13:50Z UMLS:C4021973 human_phenotype owl:Class HP:0008214 biolink:NamedThing Decreased serum estradiol A reduction below normal concentration of estradiol in the circulation. hp0009lx5z Decreased serum estradiol UMLS:C0241011|SNOMEDCT_US:166449002 human_phenotype owl:Class HP:0032637 biolink:NamedThing Renal interstitial edema Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. hp0009lx5z Renal interstitial oedema peter owl:Class HP:0032962 biolink:NamedThing Tubular microcystic change Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. hp0009lx5z peter owl:Class HP:0100226 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 5th toe hp0009lx5z Cone-shaped end part of the innermost bone of the pinky toe|Cone-shaped end part of the innermost bone of the little toe|Cone-shaped end part of the innermost bone of the pinkie toe doelkens 2010-06-24T05:04:53Z UMLS:C4022195 human_phenotype owl:Class HP:0025194 biolink:NamedThing Morgagni diaphragmatic hernia An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity. hp0009lx5z Morgagni hernia 2016-12-05 01:55:27+00:00 Morgagni hernias are generally accompanied by a hernia sac, and often do not cause symptoms in the newborn period. HPO:probinson owl:Class HP:0033412 biolink:NamedThing Upper extremity akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities. hp0009lx5z Akinesia of the upper extremities 2021-01-09 16:29:57+00:00 peter owl:Class HP:0009920 biolink:NamedThing Nevus of Ota A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera. hp0009lx5z Nevus fuscoceruleus ophthalmomaxillaris|Congenital melanosis bulbi|Oculodermal melanocytosis|Naevus fuscoceruleus ophthalmomaxillaris peter 2009-05-02T06:26:59Z MSH:D009507|SNOMEDCT_US:254817005|SNOMEDCT_US:414929001|UMLS:C0027961 human_phenotype owl:Class HP:0033063 biolink:NamedThing Shortened sleep cycle A tendency to sleep less hours than usual while feeling well rested. hp0009lx5z Short sleep peter owl:Class HP:0011340 biolink:NamedThing Incomplete cleft of the upper lip A subtle unilateral cleft of the upper lip, which may appear as a small indentation. hp0009lx5z Partial cleft of the upper lip|Incomplete cheiloschisis|Incomplete cleft of the upper lip|Notched cleft of the upper lip|Forme fruste unilateral cleft lip peter 2012-02-26T01:55:36Z UMLS:C4021158 human_phenotype owl:Class HP:0030423 biolink:NamedThing Splenic cyst A closed sac located in the spleen. hp0009lx5z Cyst on spleen SNOMEDCT_US:79040006|UMLS:C0272407 owl:Class HP:0033483 biolink:NamedThing Podocyte infolding Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. hp0009lx5z 2021-01-10 12:12:18+00:00 See Figure 3d of PMID:32393263 and Figures 1 and 2 of PMID:33276871 for examples. peter owl:Class HP:0012813 biolink:NamedThing Unilateral breast hypoplasia Underdevelopment of the breast on one side only. hp0009lx5z One underdeveloped breast hecht 2014-05-26T08:11:58Z UMLS:C1844722 human_phenotype owl:Class HP:0031914 biolink:NamedThing Fluctuating Varying irregularly over time in severity, amount, or amplitude. hp0009lx5z 2018-07-01 21:29:25+00:00 peter owl:Class HP:0004233 biolink:NamedThing Advanced ossification of carpal bones Ossification of carpal bones at an abnormally early age. hp0009lx5z Precociously ossified carpal bones|Accelerated carpal bone maturation|Advanced carpal ossification|Accelerated wrist bone maturation|Advanced carpal bone age HP:0006104 UMLS:C1849292|UMLS:C4280536 human_phenotype owl:Class HP:0030369 biolink:NamedThing Induced vaginal delivery Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own. hp0009lx5z UMLS:C4072908 owl:Class HP:0004940 biolink:NamedThing Generalized arterial calcification Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. hp0009lx5z Generalised arterial calcification HP:0004967 UMLS:C4025269 owl:Class HP:0010156 biolink:NamedThing Pseudoepiphysis of the 1st metatarsal hp0009lx5z doelkens 2009-05-29T01:24:17Z UMLS:C4024003 human_phenotype owl:Class HP:0010499 biolink:NamedThing Patellar subluxation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. hp0009lx5z Partial knee cap dislocation|Subluxation of patella peter 2009-09-17T11:46:41Z UMLS:C0857276 human_phenotype owl:Class HP:0033182 biolink:NamedThing Increased circulating cathepsin D level An increase in concentration of cathepsin D in the blood circulation. hp0009lx5z 2020-09-28 22:29:16+00:00 peter owl:Class HP:0032652 biolink:NamedThing Elevated CSF chitotriosidase 1 level Increased concentration of chitotriosidase 1 in cerebrospinal fluid. hp0009lx5z peter owl:Class HP:0020142 biolink:NamedThing Blood pressure substantially higher in arms than legs An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. hp0009lx5z Increased arm-leg blood pressure gradient|Blood pressure substantially higher in upper than lower extremities This feature can be observed in aortic coarctation. robinp 2019-07-05 17:56:44+00:00 owl:Class HP:0004057 biolink:NamedThing Mitten deformity Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity. hp0009lx5z Pseudosyndactyly Mitten deformity is also referred to as pseudosyndactyly, which should not be confused with true syndactyly (actual and complete fusion of fingers). Antenatally, pseudosyndactyly can be misinterpreted as syndactyly. UMLS:C1969236 human_phenotype owl:Class HP:0033674 biolink:NamedThing Pulmonary blood flow redistribution Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung. hp0009lx5z 2021-02-28 15:06:40+00:00 Upper lobe blood diversion in patients with mitral valve disease is the archetypal example of redistribution. See Figure 59 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0033633 biolink:NamedThing Decreased alveolar volume An abnormal reduction in alveolar volume. hp0009lx5z 2021-02-01 13:16:28+00:00 peter owl:Class HP:0008608 biolink:NamedThing Hypertrophic auricular cartilage hp0009lx5z UMLS:C1857263 human_phenotype owl:Class HP:0011778 biolink:NamedThing Thyroid atypical adenoma hp0009lx5z peter 2012-04-22T06:02:26Z UMLS:C4023191 human_phenotype owl:Class HP:0009028 biolink:NamedThing Generalized weakness of limb muscles Generalized weakness of the muscles of the arms and legs. hp0009lx5z Generalised weakness of limb muscles UMLS:C4024605 human_phenotype owl:Class HP:0007543 biolink:NamedThing Epidermal hyperkeratosis hp0009lx5z Increased thickness of skin epidermis UMLS:C1848773 human_phenotype owl:Class HP:0032638 biolink:NamedThing Elevated urine mevalonic acid An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid. hp0009lx5z Elevated urine mevalonate|Mevalonate aciduria|Elevated urine mevalonate levels peter owl:Class HP:0006961 biolink:NamedThing Jerky head movements hp0009lx5z Head jerking|Jerking head movements UMLS:C1855568 human_phenotype owl:Class HP:0003417 biolink:NamedThing Coronal cleft vertebrae Frontal schisis (cleft or cleavage) of vertebral bodies. hp0009lx5z Coronal vertebral clefts|Vertebral coronal clefts|Coronal clefts|coronal cleft of vertebrae Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. HP:0003673 UMLS:C1834954 human_phenotype owl:Class HP:0025264 biolink:NamedThing Stiff ankle A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity. hp0009lx5z Stiff ankle|Ankle stiffness 2016-12-18 01:17:12+00:00 HPO:probinson owl:Class HP:0041156 biolink:NamedThing Fractured orbit of skull A partial or complete breakage of the orbit of skull. hp0009lx5z bone orbit of skull owl:Class HP:0003249 biolink:NamedThing Genital ulcers hp0009lx5z Genital ulcers UMLS:C0151281 human_phenotype owl:Class HP:0030510 biolink:NamedThing Combined hamartoma of the retinal pigment epithelium and retina hp0009lx5z UMLS:C1862062 owl:Class HP:0100254 biolink:NamedThing Stenosis of the medullary cavity of the long bones hp0009lx5z doelkens 2010-07-14T05:13:39Z UMLS:C4022179 human_phenotype owl:Class HP:0025421 biolink:NamedThing Pneumomediastinum The presence of free air in the mediastinum. hp0009lx5z 2017-04-23 12:21:33+00:00 Spontaneous pneumomediastinum (SPM) is defined as the non-traumatic presence of free air in the mediastinum in a patient with no known underlying disease. The most common etiology for SPM is alveolar rupture, most commonly due to an asthma exacerbation, but also seen with barotrauma, intrathoracic pressure increase, the valsalva maneuver, and withdrawal symptoms of illicit drugs. Other causes of pneumomediastinum include coughing, mechanical ventilation, pneumonitis, emphysema, lung fibrosis, acute respiratory distress syndrome, heroin, marijuana, cocaine use, gas producing infections in the head and neck, tracheobronchial or esophageal rupture and facial fractures that lead to disruption of maxillary sinus walls. HPO:probinson owl:Class HP:0033398 biolink:NamedThing Pleural plaque Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). hp0009lx5z 2021-01-09 14:32:56+00:00 Pleural plaques are indicative of asbestos exposure. Grossly, the pleural plaque is characterized by hyalinized discrete elevated gray-white or pearly areas involving the parietal pleura. Despite varying sizes and shapes, the pattern of the plaques is repetitive. There is a flat or slightly uneven surface, with steep edges rising abruptly from the surrounding normal pleura, and here and there rounded mounds, with somewhat overhanging edges. The thick pleural plaques are typical in appearance, and the classic comparison is to frosting or sugar icing (Zuckerguss), as is seen on serous membranes. peter owl:Class HP:0011797 biolink:NamedThing Papillary renal cell carcinoma type 1 A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. hp0009lx5z peter 2012-04-22T08:03:34Z UMLS:C1336839 human_phenotype owl:Class HP:0041066 biolink:NamedThing Chronic partially decreased circulating IgG2 A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood. hp0009lx5z Chronic partially decreased IgG2 in blood owl:Class HP:0031259 biolink:NamedThing Oophoritis An inflammation of the ovary or ovaries. hp0009lx5z Inflammed ovary 2017-08-12 16:02:34+00:00 peter owl:Class HP:0031366 biolink:NamedThing Palate neoplasm A neoplasm that affects the hard palate, soft palate, or uvula. hp0009lx5z 2017-09-02 00:52:14+00:00 peter owl:Class HP:0500188 biolink:NamedThing Decreased CSF valine concentration Any decreased amount from normal of valine in the cerebrospinal fluid. hp0009lx5z Low valine levels in cerebrospinal fluid 2019-02-25 15:40:23+00:00 owl:Class HP:0031125 biolink:NamedThing Decreased platelet alpha-2A-adrenergic receptor Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine. hp0009lx5z 2017-06-10 12:30:42+00:00 peter owl:Class HP:0030840 biolink:NamedThing Ankle pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. hp0009lx5z Ankle pain SNOMEDCT_US:247373008|SNOMEDCT_US:202490009|UMLS:C0238656 owl:Class HP:0011240 biolink:NamedThing Prominent stem of antihelix Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix. hp0009lx5z Hypertrophic antihelix stem|Hyperplastic antihelix stem This finding is highly variable. The relative prominence is attributable to either increased volume of the cartilage and/or the acuteness of the folding angle. Interpretation of relative antihelical prominence may be difficult when the conchal anatomy is distorted, for example, with a cupped ear. peter 2011-12-18T11:32:08Z UMLS:C4020910 human_phenotype owl:Class HP:0005841 biolink:NamedThing Calcific stippling of infantile cartilaginous skeleton hp0009lx5z UMLS:C1859135 human_phenotype owl:Class HP:0011049 biolink:NamedThing Agenesis of primary maxillary lateral incisor Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor. hp0009lx5z Agenesis of deciduous maxillary lateral incisor|Failure of development of deciduous maxillary lateral incisor|Missing primary maxillary lateral incisor|Missing deciduous maxillary lateral incisor|Failure of development of primary maxillary lateral incisor|Absence of deciduous maxillary lateral incisor|Absence of primary maxillary lateral incisor peter 2011-03-10T11:31:10Z UMLS:C4023568|UMLS:C4280353 human_phenotype owl:Class HP:0012408 biolink:NamedThing Medullary nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). hp0009lx5z peter 2013-11-10T10:45:27Z UMLS:C0403477|SNOMEDCT_US:236447005 human_phenotype owl:Class HP:0000343 biolink:NamedThing Long philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. hp0009lx5z Vertical hyperplasia of philtrum|Increased vertical dimension of philtrum|Increased height of philtrum|Increased length of philtrum|Elongated philtrum UMLS:C1865014 human_phenotype owl:Class HP:0000431 biolink:NamedThing Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root). hp0009lx5z Broad nasal root|Nasal bridge, wide|Increased width of bridge of nose|Wide nasal bridge|Widened nasal bridge|Increased breadth of nasal bridge|Increased width of nasal bridge|Wide bridge of nose|Broad flat nasal bridge|Increased breadth of bridge of nose|Broad nasal bridge|Broadened nasal bridge|Nasal bridge broad Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. HP:0004504|HP:0004650|HP:0200139|HP:0004500|HP:0000424 SNOMEDCT_US:249321001|UMLS:C1849367|UMLS:C1839764 human_phenotype owl:Class HP:0500106 biolink:NamedThing Isolated systolic hypertension Elevated systolic blood pressure without an elevated blood pressure. hp0009lx5z 2018-06-22 14:04:14+00:00 Isolated systolic hypertension or an elevated systolic blood pressure without an elevated diastolic blood pressure is a known risk factor for incident heart failure in older adults. owl:Class HP:0031584 biolink:NamedThing Tessier number 12 facial cleft There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. hp0009lx5z 2017-10-14 12:52:42+00:00 peter owl:Class HP:0012185 biolink:NamedThing Constrictive median neuropathy Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. hp0009lx5z Carpal tunnel syndrome Constrictive median neuropathy is the major clinical feature of carpal tunnel syndrome. peter 2013-02-24T09:24:32Z UMLS:C4023009 human_phenotype owl:Class HP:0033101 biolink:NamedThing Elevated urine aconitic acid level An abnormally increased level of aconitic acid in the urine. hp0009lx5z peter owl:Class HP:0500077 biolink:NamedThing Alternating hyperphoria A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards. hp0009lx5z 2018-02-26 19:15:24+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0002638 biolink:NamedThing Superficial thrombophlebitis Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). hp0009lx5z SNOMEDCT_US:2477008|UMLS:C1510431 human_phenotype owl:Class HP:0030881 biolink:NamedThing Shoulder impingement Trapping and compression of the rotator cuff tendons during shoulder movements. hp0009lx5z Shoulder impingment can cause the rotator cuff tendon to become inflamed and swollen (rotator cuff tendonitis). Similarly, shoulder impingement can cause the bursa to become inflamed (shoulder bursitis). UMLS:C1655733 owl:Class HP:0003095 biolink:NamedThing Septic arthritis hp0009lx5z Infected joint ORCID:0000-0002-5316-1399 MSH:D001170|SNOMEDCT_US:396234004|UMLS:C4280547|UMLS:C0003869|SNOMEDCT_US:372939007 human_phenotype owl:Class HP:0033594 biolink:NamedThing Elevated urinary 7-biopterin level An abnormally increased amount of 7-biopterin in the urine. hp0009lx5z Primapterinuria 2021-01-30 13:02:41+00:00 peter owl:Class HP:0007633 biolink:NamedThing Bilateral microphthalmos A developmental anomaly characterized by abnormal smallness of both eyes. hp0009lx5z Microphthalmia, bilateral|Decreased size of eyeballs|Decreased size of globes of eyes|Abnormally small eyeball on both sides|Bilateral nanophthalmos HP:0001585|HP:0001143 UMLS:C4280422|UMLS:C4280421|UMLS:C1843496 human_phenotype owl:Class HP:0012697 biolink:NamedThing Small basal ganglia Decreased size of the basal ganglia. hp0009lx5z peter 2014-03-22T06:01:22Z UMLS:C4022769 human_phenotype owl:Class HP:0004290 biolink:NamedThing Sclerosis of hand bones with transverse striations hp0009lx5z UMLS:C4025366 human_phenotype owl:Class HP:0030934 biolink:NamedThing Oral erythroplakia A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed. hp0009lx5z Oral erythroplasia 2016-11-07 18:48:22+00:00 Oral erythroplakia may be related to local irritants and infection, candida infection. Oral erythroplakia may be dysplastic or (pre-)neoplastic. robinp owl:Class HP:0000967 biolink:NamedThing Petechiae Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. hp0009lx5z MSH:D011693|SNOMEDCT_US:50091001|MEDDRA:10034754|UMLS:C0031256|SNOMEDCT_US:271813007 owl:Class HP:0006670 biolink:NamedThing Impaired myocardial contractility hp0009lx5z UMLS:C4025009 human_phenotype owl:Class HP:0005347 biolink:NamedThing Cartilaginous trachea hp0009lx5z UMLS:C1863363 human_phenotype owl:Class HP:0430000 biolink:NamedThing Abnormality of the frontal bone An abnormality of the frontal bone. hp0009lx5z Anomaly of the frontal bone|Malformation of the frontal bone|Deformity of the frontal bone|Abnormality of the bone of the forehead|Abnormal morphology of frontal bone UMLS:C4021873 owl:Class HP:0031134 biolink:NamedThing Cor triatrium sinister A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum. hp0009lx5z 2017-06-10 13:02:05+00:00 peter owl:Class HP:0031323 biolink:NamedThing Myocardial eosinophilic infiltration An increase in the number of eosinophils in myocardial tissue. hp0009lx5z 2017-08-27 12:08:48+00:00 peter owl:Class HP:0010707 biolink:NamedThing 1-4 finger syndactyly Syndactyly with fusion of fingers one to four. hp0009lx5z Webbed 1st-4th finger sdoelken 2010-03-26T05:12:44Z UMLS:C4023729 human_phenotype owl:Class HP:0012669 biolink:NamedThing Carotid sinus syncope An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion. hp0009lx5z Carotid sinus syncope cam be elicited mechanical manipulation of the carotid sinuses (eg, taking pulses in the neck, shaving). peter 2014-02-15T01:39:14Z SNOMEDCT_US:51723007|UMLS:C0221046|MSH:D013575 human_phenotype owl:Class HP:0003665 biolink:NamedThing Amyotrophy of the musculature of the pelvis Muscular atrophy affecting the muscles of the pelvis. hp0009lx5z peter 2008-04-07T10:57:00Z UMLS:C4025581 human_phenotype owl:Class HP:0030400 biolink:NamedThing Abnormal platelet lysosome secretion Abnormal release of lysosome contents from platelets. hp0009lx5z UMLS:C4072933 owl:Class HP:0003755 biolink:NamedThing Type 1 fibers relatively smaller than type 2 fibers The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. hp0009lx5z Type 1 fibres relatively smaller than type 2 fibres This feature can only be observed on muscle biopsy. UMLS:C4025571 human_phenotype owl:Class HP:0012084 biolink:NamedThing Abnormality of skeletal muscle fiber size Any abnormality of the size of the skeletal muscle cell. hp0009lx5z Abnormality of skeletal muscle fibre size peter 2012-08-20T03:19:54Z UMLS:C4023051 human_phenotype owl:Class HP:0020127 biolink:NamedThing Periarticular soft-tissue mass A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. hp0009lx5z The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. robinp 2019-07-03 17:35:14+00:00 owl:Class HP:0008414 biolink:NamedThing Lumbar kyphosis in infancy hp0009lx5z Hunched back in infancy|Round back in infancy UMLS:C1863423 human_phenotype owl:Class HP:0033497 biolink:NamedThing Tip variant segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. hp0009lx5z Segmental glomerulosclerosis, tip variant 2021-01-10 13:27:31+00:00 peter owl:Class HP:0033701 biolink:NamedThing Cortical sclerosis of the iliac wing Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing. hp0009lx5z 2021-03-12 12:07:04+00:00 See Figure 3B of PMID:17404618. peter owl:Class HP:0012692 biolink:NamedThing Focal T2 hyperintense thalamic lesion A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. hp0009lx5z The term "unidentified bright object" has been used to describe T2 hyperintense lesions in the thalamus and elsewhere in patients with neurofibromatosis. peter 2014-03-22T04:54:03Z UMLS:C4022774 human_phenotype owl:Class HP:0006389 biolink:NamedThing Limited knee flexion Reduced ability to flex (bend) the knee joint. hp0009lx5z UMLS:C1839512 owl:Class HP:0031856 biolink:NamedThing Hobby horse gait An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward. hp0009lx5z 2018-05-05 18:27:42+00:00 peter owl:Class HP:0033190 biolink:NamedThing Hypertrichotic hyperpigmented patch A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth. hp0009lx5z Cutaneous hyperpigmentation with overlying hypertrichosis 2020-10-04 12:07:25+00:00 peter owl:Class HP:0033125 biolink:NamedThing Follicular lymphoma An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement. hp0009lx5z 2020-09-05 13:05:21+00:00 peter owl:Class HP:0007479 biolink:NamedThing Congenital nonbullous ichthyosiform erythroderma The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. hp0009lx5z Collodion baby|Congenital non-bullous ichthyosis|Nonbullous congenital ichthyosis|Congenital lamellar ichthyosis|Ichthyosis lammellaris|Nonbullous congenital ichthyosiform erythroderma|Ichthyosis, congenital, nonblistering HP:0007512|HP:0007619|HP:0001021|HP:0007625|HP:0007388 SNOMEDCT_US:267372009|MSH:D017490|SNOMEDCT_US:205550003|UMLS:C0079154|SNOMEDCT_US:268245001 human_phenotype owl:Class HP:0002247 biolink:NamedThing Duodenal atresia A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. hp0009lx5z Absence or narrowing of first part of small bowel UMLS:C0266174|MSH:C535720|Fyler:4406|SNOMEDCT_US:51118003|MEDDRA:10013812 human_phenotype owl:Class HP:0032122 biolink:NamedThing Very low visual acuity A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). hp0009lx5z 2018-11-18 14:04:38+00:00 peter owl:Class HP:0011483 biolink:NamedThing Anterior synechiae of the anterior chamber Adhesions between the iris and the cornea. hp0009lx5z Anterior synechiae|Cornea-iris adhesion|Iridocorneal synechia peter 2012-04-02T08:50:23Z SNOMEDCT_US:70992005|UMLS:C0152252 human_phenotype owl:Class HP:0007417 biolink:NamedThing Discoid lupus rash Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. hp0009lx5z Discoid lupus erythematosus This lesion is characterstic of discoid lupus erythematosus, but similar lesions may be observed in other diseases. ORCID:0000-0002-5316-1399 HP:0000981 MSH:D008179|SNOMEDCT_US:200938002|UMLS:C0024138|SNOMEDCT_US:238927000 human_phenotype owl:Class HP:0006333 biolink:NamedThing Crowded maxillary incisors A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor. hp0009lx5z Crowded upper front teeth|Crowded upper incisors|Overlapped upper front teeth|Overlapped maxillary incisors UMLS:C4021602 human_phenotype owl:Class HP:0033279 biolink:NamedThing Enterocutaneous fistula An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin. hp0009lx5z 2020-11-28 17:55:49+00:00 peter owl:Class HP:0041051 biolink:NamedThing Ageusia A rare condition that is characterized by a complete loss of taste function of the tongue. hp0009lx5z Lost taste|Absent sense of taste|Impaired taste sensation owl:Class HP:0011438 biolink:NamedThing Maternal teratogenic exposure A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy. hp0009lx5z Commonly encountered maternal teratogens include alcohol, antiepileptic drugs, antihypertensive and antithyroid medications, aspirin, bisphosphonates, chemotherapy, monoclonal antibodies, ionizing radiation, recreational drugs, and serotonin-specific reuptake inhibitors (a class of antidepressants). peter 2012-03-17T07:59:06Z UMLS:C4023357 human_phenotype owl:Class HP:0011536 biolink:NamedThing Right atrial isomerism Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. hp0009lx5z peter 2012-04-07T10:36:52Z MSH:D059446|UMLS:C3178806 human_phenotype owl:Class HP:0032547 biolink:NamedThing Low intraocular pressure An abnormal decrease of the pressure within the eye. hp0009lx5z Ocular hypotony 2019-06-12 10:37:45+00:00 Ocular hypotony is defined statistically as an intraocular pressure (IOP) of less than 6.5 mmHg, three standard deviations below the mean. Clinically significant hypotony is when the IOP is so low that there is resultant visual loss. Hypotony has also been described as low pressure in an individual eye, leading to functional changes and structural changes. peter owl:Class HP:0033038 biolink:NamedThing Anti-RNA-polymerase-III-autoantibody positivity The presence of autoantibodies in the serum that react to RNA-polymerase III. hp0009lx5z Anti-RNA-polymerase III-autoantibodies can be detected in patients with systemic sclerosis. peter owl:Class HP:0005314 biolink:NamedThing Anomalous branches of internal carotid artery hp0009lx5z UMLS:C1847886 human_phenotype owl:Class HP:0025499 biolink:NamedThing Class I obesity Obesity with a body mass index of 30 to 34.9 kg per square meter. hp0009lx5z Obesity grade 1 2017-05-14 20:06:40+00:00 HPO:probinson owl:Class HP:0004630 biolink:NamedThing Anterior beaking of thoracic vertebrae Anterior tongue-like protrusions of thoracic vertebral bodies. hp0009lx5z UMLS:C4025302 human_phenotype owl:Class HP:0007007 biolink:NamedThing Cavitation of the basal ganglia The formation of small cavities in the tissue of the basal ganglia. hp0009lx5z This feature can be observed in tissue upon autopsy or in magnetic resonance tomography (MRI) images. HP:0007246 UMLS:C4024952 human_phenotype owl:Class HP:0033680 biolink:NamedThing Pilocytic astrocytoma The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities. hp0009lx5z 2021-03-06 13:07:15+00:00 peter NCIT:C4047 owl:Class HP:0030074 biolink:NamedThing Chemodectoma A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract. hp0009lx5z Chemodectomas UMLS:C0007279|SNOMEDCT_US:30699005|MSH:D002345|SNOMEDCT_US:127028003 owl:Class HP:0002342 biolink:NamedThing Intellectual disability, moderate Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. hp0009lx5z Moderate mental deficiency|Mental retardation, moderate|Moderate mental retardation|IQ between 34 and 49 HP:0007303 SNOMEDCT_US:61152003|UMLS:C0026351 human_phenotype owl:Class HP:0032470 biolink:NamedThing Monilethrix The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture. hp0009lx5z 2019-04-09 10:47:20+00:00 This feature is often accompanied by hair loss. peter owl:Class HP:0012706 biolink:NamedThing Elevated brain choline level by MRS An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z The Choline (Cho) peak is a heterogeneous peak representing various choline-containing compounds such as acetylcholine, phosphocholine (lecithin), glycerophosphocholine, and various other intermediates of phospholipids metabolism. It is an indicator of cell density and cell wall turnover. Elevated levels are found in tumors, especially malignant ones, and in certain demyelinating diseases. Choline resonance presents at 3.22 ppm. Studies have shown there is also a direct association between Cho and levels of Ki-67, a protein expressed in all phases of the cell cycle except GO that serves as a good marker for cellular proliferation. This observation makes Cho a reliable predictor of cellular activity in tumor tissue. peter 2014-03-22T08:06:29Z UMLS:C4022763 human_phenotype owl:Class HP:0031156 biolink:NamedThing Decreased platelet glycoprotein Ib Decreased platelet cell membrane concentration of glycoprotein Ib. hp0009lx5z 2017-06-18 13:22:56+00:00 peter owl:Class HP:0033425 biolink:NamedThing Periungual erythema Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail. hp0009lx5z 2021-01-09 17:39:47+00:00 peter owl:Class HP:0500260 biolink:NamedThing Triggered by head trauma Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma. hp0009lx5z Head trauma triggered symptoms 2019-04-30 14:17:10+00:00 owl:Class HP:0033669 biolink:NamedThing Enlarged amygdala A increase in the volume (size) of the amygdyla. hp0009lx5z Amygdalar enlargement 2021-02-28 14:56:54+00:00 Amygdalar enlargement is observed in a minority of people with intractable temporal lobe epilepsy. peter owl:Class HP:0012022 biolink:NamedThing Congenital portosystemic venous shunt A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver). hp0009lx5z peter 2012-07-26T10:16:40Z SNOMEDCT_US:253330006|MSH:C562830|UMLS:C0344688 human_phenotype owl:Class HP:0001663 biolink:NamedThing Ventricular fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. hp0009lx5z HP:0005166 MSH:D014693|SNOMEDCT_US:71908006|UMLS:C0042510 human_phenotype owl:Class HP:0020098 biolink:NamedThing Herpes encephalitis Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction. hp0009lx5z 2019-04-08 18:58:22+00:00 Herpes encephalitis may occur in mmunocompromised patients, but HSV-1 is consistently the single most common cause of sporadic encephalitis worldwide. robinp owl:Class HP:0100608 biolink:NamedThing Metrorrhagia Bleeding at irregular intervals. hp0009lx5z Abnormal uterus bleeding|Menstrual spotting|Intermenstrual bleeding doelkens 2010-12-27T06:14:01Z MSH:D008796|SNOMEDCT_US:237130006|SNOMEDCT_US:64996003|UMLS:C0025874|SNOMEDCT_US:19155002 human_phenotype owl:Class HP:0031520 biolink:NamedThing Groin pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region. hp0009lx5z 2017-09-22 02:40:10+00:00 peter owl:Class HP:0031193 biolink:NamedThing Abnormal morphology of right ventricular trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae). hp0009lx5z 2017-06-24 14:10:16+00:00 peter owl:Class HP:0001555 biolink:NamedThing Asymmetry of the thorax Lack of symmetry between the left and right halves of the thorax. hp0009lx5z Asymmetric chest UMLS:C1858033 human_phenotype owl:Class HP:0410337 biolink:NamedThing Parasite allergy Hypersensitivity in form of an adverse immune reaction against parasites. hp0009lx5z Allergy to parasites|Immunoglobulin E-mediated parasite allergy|Parasite allergy|IgE-mediated parasite allergy owl:Class HP:0001640 biolink:NamedThing Cardiomegaly Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. hp0009lx5z Enlarged heart|Increased heart size UMLS:C0018800|MSH:D006332|SNOMEDCT_US:8186001 owl:Class HP:0410191 biolink:NamedThing Increased glucose-6-phosphate dehydrogenase level in leukocytes An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes. hp0009lx5z Increased G6PD level in leukocytes 2018-05-21 18:04:08+00:00 owl:Class HP:0031214 biolink:NamedThing Decreased circulating dehydroepiandrosterone concentration hp0009lx5z Decreased circulating dehydroepiandrosterone level 2017-07-02 11:29:06+00:00 A reduced concentration of dehydroepiandrosterone in the blood. dehydroepiandrosterone is a weak androgen produced by the adrenal glands in both males and females. peter owl:Class HP:0500022 biolink:NamedThing Abnormal circulating dehydroepiandrosterone concentration A deviation from the normal concentration of dehydroepiandrosterone in the circulation. hp0009lx5z Abnormal serum dehydroepiandrosterone level|Abnormal serum androstenolone level|Abnormal serum DHEA 2017-05-18 19:38:52+00:00 Dehydroepiandrosterone (DHEA), which is produced in the adrenal glands and the gonads, represents the most abundant circulating steroid hormone. It is a metabolic intermediate in the biosynthesis of the androgen and estrogen sex steroids. ORCID:0000-0001-7941-2961 owl:Class HP:0011060 biolink:NamedThing Dentinogenesis imperfecta limited to primary teeth Developmental dysplasia of dentin affecting only the primary dentition. hp0009lx5z Dentinogenesis imperfecta of baby teeth peter 2011-03-11T12:26:32Z SNOMEDCT_US:109492001|UMLS:C0011430|MSH:D003805|UMLS:C4023558 human_phenotype owl:Class HP:0040282 biolink:NamedThing Frequent Present in 30% to 79% of the cases. hp0009lx5z Frequent (79-30%) ORCID:0000-0002-5316-1399 ORPHA:453312 owl:Class HP:0410184 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level in red blood cells An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells. hp0009lx5z Abnormal G6PD level in red blood cells|Abnormal G6PD level in RBCs 2018-05-21 18:01:06+00:00 owl:Class HP:0032579 biolink:NamedThing Vascular hamartoma A benign focal growth composed of vascular tissue. hp0009lx5z peter owl:Class HP:0004267 biolink:NamedThing Narrow small joints of the hand hp0009lx5z Narrow small joints of the hand UMLS:C4025382 human_phenotype owl:Class HP:0040106 biolink:NamedThing Morphological abnormality of the lateral semicircular canal hp0009lx5z Morphological abnormality of the horizontal semicircular canal HPO:skoehler UMLS:C4021034 owl:Class HP:0031435 biolink:NamedThing Monotonic speech A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice. hp0009lx5z 2017-09-16 12:36:08+00:00 peter owl:Class HP:0033349 biolink:NamedThing Seizure cluster A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. hp0009lx5z Seizure flurries|Serial seizures|Recurrent seizures|Acute repetitive seizures|Crescendo seizures|Cyclical seizures 2020-11-30 22:08:36+00:00 This term should be used with an HPO term for the appropriate type of seizure to denote clustered occurence of seizures. There is no consensus within the medical community regarding the definition of a seizure cluster, where limitations of current clinical definitions include poor sensitivity and specificity. The proposed definition is meant to serve as a placeholder until a more robust definition, likely facilitated by technological advances in seizure tracking devices and personalised cluster identification is agreed upon. peter owl:Class HP:0033146 biolink:NamedThing Elevated circulating methylsuccinic acid concentration Increased concentration of methylsuccinic acid in the blood circulation. hp0009lx5z 2020-09-19 11:29:53+00:00 peter owl:Class HP:0001094 biolink:NamedThing Iridocyclitis A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body. hp0009lx5z UMLS:C0022073|MSH:D015863|SNOMEDCT_US:77971008 human_phenotype owl:Class HP:0011571 biolink:NamedThing Parachute mitral valve Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. hp0009lx5z peter 2012-04-08T08:47:46Z SNOMEDCT_US:204362007|UMLS:C0546965 human_phenotype owl:Class HP:0006768 biolink:NamedThing Localized neuroblastoma hp0009lx5z Localised neuroblastoma UMLS:C4024981 human_phenotype owl:Class HP:0005194 biolink:NamedThing Flattened metatarsal heads Abnormally flat shape of the heads of the metatarsal bones. hp0009lx5z Flattened head of long bone of foot The metatarsal heads articulate with the proximal phalanges of the toes. UMLS:C4025240 human_phenotype owl:Class HP:0200094 biolink:NamedThing Frontal open bite hp0009lx5z sebastiankohler 2013-06-04T03:04:44Z UMLS:C1857012 human_phenotype owl:Class HP:0012402 biolink:NamedThing Increased urine alpha-ketoglutarate concentration A greater than normal concentration of 2-oxoglutaric acid in the urine. hp0009lx5z Elevated urinary 2-oxoglutarate|Increased urine alpha-ketoglutarate concentration Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. peter 2013-11-09T03:48:37Z UMLS:C4022915 human_phenotype owl:Class HP:0410331 biolink:NamedThing Nut food product allergy Hypersensitivity in form of an adverse immune reaction against nut food products. hp0009lx5z Immunoglobulin E-mediated nut food product allergy|Nut allergy|Allergy to nut food products|IgE-mediated nut food product allergy|Nut food product allergy owl:Class HP:0000448 biolink:NamedThing Prominent nose Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. hp0009lx5z Increased nasal size|Prominent nose|Pronounced nose|Nasal hyperplasia|Disproportionately large nose|Large nose|Big nose|Hypertrophy of nose|Nasal hypertrophy|Increased size of nose|Hyperplasia of nose HP:0200140|HP:0005271|HP:0000461 UMLS:C4280629|SNOMEDCT_US:249311009|UMLS:C0426415|UMLS:C1400105 human_phenotype owl:Class HP:0033958 biolink:NamedThing Cortical radial artery foam cell hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. hp0009lx5z Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells 2021-06-24 12:31:30+00:00 peter owl:Class HP:0008416 biolink:NamedThing Six lumbar vertebrae hp0009lx5z UMLS:C1839279 human_phenotype owl:Class HP:0009969 biolink:NamedThing Partial duplication of the middle phalanx of the 3rd finger Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. hp0009lx5z Partial duplication of the middle bone of the 3rd finger doelkens 2009-05-26T12:49:59Z UMLS:C4024138 human_phenotype owl:Class HP:0007473 biolink:NamedThing Crusting erythematous dermatitis hp0009lx5z UMLS:C1868496 human_phenotype owl:Class HP:0010999 biolink:NamedThing Aplasia of the optic tract hp0009lx5z Absent optic tract sdoelken 2011-02-13T11:28:03Z UMLS:C4023603 human_phenotype owl:Class HP:0030929 biolink:NamedThing 1-minute APGAR score of 2 hp0009lx5z 2016-11-07 18:16:20+00:00 robinp owl:Class HP:0012479 biolink:NamedThing Temporomandibular joint crepitus Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound. hp0009lx5z Temporomandibular joint popping sound|Temporomandibular joint noise|Temporomandibular joint grating sound|Jaw joint sounds|Jaw joint noise|Jaw joint grating sound|Jaw joint clicking sound|Jaw joint crepitus|Jaw joint popping sound|Temporomandibular joint clicking sound|Temporomandibular joint sounds peter 2013-11-28T07:28:13Z UMLS:C4280313|SNOMEDCT_US:298377005|UMLS:C0575154|UMLS:C4280315|UMLS:C4280314 human_phenotype owl:Class HP:0006511 biolink:NamedThing Laryngeal stridor An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat. hp0009lx5z Laryngeal stidor The laryngeal stridor sound is usually heard during inspiratory phase, also called inspiratory stridor, and may accompanied by inspiratory difficulty in breathing. It may be due to abnormal flaccidity of the epiglottis or arytenoids. MSH:D007826|SNOMEDCT_US:41432000|UMLS:C0023066|SNOMEDCT_US:53787002|SNOMEDCT_US:406444002 human_phenotype owl:Class HP:0100333 biolink:NamedThing Unilateral cleft lip A non-midline cleft of the upper lip on one side only. hp0009lx5z Unilateral cheiloschisis|One sided cleft upper lip|Unilateral cleft upper lip doelkens 2010-10-13T04:11:32Z HP:0100331 UMLS:C0392006|SNOMEDCT_US:304067009 human_phenotype owl:Class HP:0410153 biolink:NamedThing Increased level of methylsuccinic acid in urine An increase in the level of methylsuccinic acid in the urine. hp0009lx5z Increased level of pyrotartaric acid in urine 2018-03-27 21:49:40+00:00 owl:Class HP:0031359 biolink:NamedThing Cutaneous sclerotic plaque A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening). hp0009lx5z 2017-08-27 15:54:00+00:00 peter owl:Class HP:0025239 biolink:NamedThing Subhyaloid hemorrhage A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area. hp0009lx5z Subhyaloid heme|Subhyaloid haemorrhage 2016-12-17 00:34:43+00:00 Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians use the terms inter-changeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. HPO:probinson owl:Class HP:0008180 biolink:NamedThing Mildly elevated creatine kinase hp0009lx5z Mildly elevated CPK|Moderately increased serum creatine kinase|Mildly elevated serum CPK|Mildly elevated serum phospho-CK|Mildly increased serum creatine kinase|Moderately elevated serum CPK|Mildly elevated serum CK|Moderately elevated serum CK|Mildly increased creatine kinase|Mildly elevated creatine phosphokinase 'has part' some ('increased amount' and ('inheres in' some blood) and (towards some IMR_0002602) and ('has modifier' some 'mild intensity') and ('has modifier' some abnormal)) HP:0003211 UMLS:C1850309 human_phenotype owl:Class HP:0008818 biolink:NamedThing Large iliac wing Increased size of the ilium ala. hp0009lx5z Large iliac wings UMLS:C4024618 owl:Class HP:0004997 biolink:NamedThing Multicentric ossification of proximal humeral epiphyses hp0009lx5z UMLS:C1857192 human_phenotype owl:Class HP:0033027 biolink:NamedThing Retinal peau d'orange A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. hp0009lx5z Retinal peau d'orange is a common finding in pseudoxanthoma elasticum. peter owl:Class HP:0033858 biolink:NamedThing Organized thrombi within interlobular vein lumen Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney. hp0009lx5z 2021-06-02 19:07:57+00:00 peter owl:Class HP:0030784 biolink:NamedThing Anomic aphasia An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. hp0009lx5z Word-finding difficulty|Nominal aphasia|Amnestic aphasia|Amnesic aphasia|Anomia MSH:D000849|SNOMEDCT_US:10325006|UMLS:C0003113 owl:Class HP:0033399 biolink:NamedThing Persistent fever Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks. hp0009lx5z 2021-01-09 14:45:19+00:00 In most patients with fever lasting 1 to 2 weeks, the etiology will be found or the fever will disappear. If fever persists beyond this point, a patient is said to have a said to have fever of undetermined origin. The distinction between 'fever of unknown origin' (FUO) and 'Persistent fever' is that FUO refers to a febrile disease whose cause is yet unknown, and persistent fever is a clinical manifestation of an FUO or of a disease of known etiology that is characterized by fever that last longer than 2-3 weeks. peter owl:Class HP:0008537 biolink:NamedThing Cleft at the superior portion of the pinna hp0009lx5z Cleft at the superior portion of the ear This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix. UMLS:C1865302 human_phenotype owl:Class HP:0004684 biolink:NamedThing Talipes valgus Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. hp0009lx5z The phrase talipes valgus is derived from the Latin words talus (ankle), pes (poot), and valgus (outward angulation of the distal segment of a bone). UMLS:C0152236|SNOMEDCT_US:79807003 human_phenotype owl:Class HP:0001980 biolink:NamedThing Megaloblastic bone marrow Abnormal increased number of megaloblasts in the bone marrow. hp0009lx5z A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure. UMLS:C0238801|SNOMEDCT_US:167921008 human_phenotype owl:Class HP:0003091 biolink:NamedThing Trophic limb changes Trophic changes occurring in a limb. hp0009lx5z UMLS:C4025657 human_phenotype owl:Class HP:0008738 biolink:NamedThing Partially duplicated kidney The presence of a partially duplicated kidney. hp0009lx5z Partially duplicated kidney UMLS:C4024630 human_phenotype owl:Class HP:0007489 biolink:NamedThing Diffuse telangiectasia Telangiectases (small dilated blood vessels) with a diffuse localization. hp0009lx5z Telangiectases, random body distribution|Diffuse telangiectases HP:0007405 UMLS:C1265776|SNOMEDCT_US:125279001 human_phenotype owl:Class HP:0041047 biolink:NamedThing Bladder outlet obstruction A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS). hp0009lx5z Obstruction of bladder outlet owl:Class HP:0008509 biolink:NamedThing Aged leonine appearance hp0009lx5z UMLS:C3550331 human_phenotype owl:Class HP:0000125 biolink:NamedThing Pelvic kidney A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. hp0009lx5z Sacral kidney UMLS:C0221209|SNOMEDCT_US:56108007 human_phenotype owl:Class HP:0004732 biolink:NamedThing Impaired renal uric acid clearance A reduction in the ability of the kidneys to remove uric acid from the serum. hp0009lx5z UMLS:C1969371 human_phenotype owl:Class HP:0007656 biolink:NamedThing Lacrimal gland aplasia A congenital defect of development characterized by absence of the lacrimal gland. hp0009lx5z Absent tear gland UMLS:C4024822 human_phenotype owl:Class HP:0031310 biolink:NamedThing Basilar artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery. hp0009lx5z 2017-08-26 21:35:20+00:00 peter owl:Class HP:0032173 biolink:NamedThing Continuous diaphragm sign This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign. hp0009lx5z 2019-01-06 10:59:57+00:00 Normally, the central part of the diaphragm is obscured by the heart, and hence is not seen on chest radiographs. Though this sign is commonly seen in pneumomediastinum, it can occasionally be also seen in pneumopericardium. This sign when seen, is a differential tool between pneumomediastinum and pneumothorax. peter owl:Class HP:0030052 biolink:NamedThing Inguinal freckling The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. hp0009lx5z Freckles in groin region UMLS:C1834297 owl:Class HP:0020117 biolink:NamedThing Hypoplastic dermoepidermal hemidesmosomes Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. hp0009lx5z With this feature, the intracellular attachment plates may be thinner than usualler or separated into small, triangular segments. The thickness of the hemidesmosomes may be less than usual. robinp 2019-07-02 14:49:12+00:00 owl:Class HP:0032625 biolink:NamedThing Intratubular erythrocyte cast Casts that contain red blood cells and are located within the tubuli of the kidney. hp0009lx5z peter owl:Class HP:0002427 biolink:NamedThing Expressive aphasia Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. hp0009lx5z Loss of expressive speech|Motor aphasia|Broca's aphasia|Non-fluent aphasia UMLS:C0917814|MSH:D001039|SNOMEDCT_US:229665008|SNOMEDCT_US:328681008|SNOMEDCT_US:229654003|UMLS:C0003550 owl:Class HP:0025198 biolink:NamedThing Inflammatory cap polyp A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp. hp0009lx5z 2016-12-05 11:49:57+00:00 The condition inflammatory cap polyposis is characterized by the presence of multiple inflammatory cap polyps in the large intestine. HPO:probinson owl:Class HP:0003438 biolink:NamedThing Absent Achilles reflex Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. hp0009lx5z Absent ankle reflexes HP:0007032|HP:0007241 UMLS:C0558845|SNOMEDCT_US:274818004|MSH:D012021 human_phenotype owl:Class HP:0200101 biolink:NamedThing Decreased/absent ankle reflexes hp0009lx5z Decreased or absent ankle reflexes|Decreased/absent ankle reflexes sebastiankohler 2013-06-05T11:58:29Z UMLS:C1850816 human_phenotype owl:Class HP:0012586 biolink:NamedThing Bilateral renal atrophy A two-sided form of atrophy of the kidney. hp0009lx5z Bilateral kidney degeneration peter 2014-01-16T03:21:55Z UMLS:C4022835 human_phenotype owl:Class HP:0012485 biolink:NamedThing Abnormal surface-connected open canalicular system An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction. hp0009lx5z peter 2013-11-29T07:55:15Z UMLS:C4021840 human_phenotype owl:Class HP:0031763 biolink:NamedThing Cyclic esotropia Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle. hp0009lx5z 2018-01-21 14:47:29+00:00 peter owl:Class HP:0033741 biolink:NamedThing Grade IV vesicoureteral reflux Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter. hp0009lx5z Grade IV VUR|VUR IV 2021-04-16 14:15:59+00:00 peter owl:Class HP:0032574 biolink:NamedThing Elevated uridine in urine Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond. hp0009lx5z Elevated uridine in urine peter owl:Class HP:0031808 biolink:NamedThing Decreased basophil count An abnormally reduced count of basophils per volume in the blood circulation. hp0009lx5z 2018-04-04 01:16:02+00:00 peter owl:Class HP:0003879 biolink:NamedThing Humeral pseudarthrosis hp0009lx5z False joint (long bone in upper arm) UMLS:C4025532 human_phenotype owl:Class HP:0033666 biolink:NamedThing Diminished physical functioning A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning. hp0009lx5z Diminished physical health|Decline in physical functional health 2021-02-28 14:50:02+00:00 peter owl:Class HP:0012454 biolink:NamedThing Unilateral wrist flexion contracture A chronic loss of wrist joint motion on one side only. hp0009lx5z Unilateral wrist contracture peter 2013-11-23T07:59:39Z UMLS:C4020722|UMLS:C4022898 human_phenotype owl:Class HP:0032348 biolink:NamedThing Cutaneous nodular amyloidosis A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue. hp0009lx5z 2019-02-23 16:30:50+00:00 peter owl:Class HP:0008489 biolink:NamedThing Spondylolisthesis at L5-S1 Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1). hp0009lx5z Spondylolysis and spondylolisthesis of l5 HP:0005779 UMLS:C3275799 human_phenotype owl:Class HP:0005183 biolink:NamedThing Pericardial lymphangiectasia An abnormal dilatation of lymph vessels in the pericardium. hp0009lx5z UMLS:C1856140 owl:Class HP:0030227 biolink:NamedThing Accumulation of muscle fiber myotilin Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. hp0009lx5z Accumulation of muscle fibre myotilin UMLS:C4022571 owl:Class HP:0030226 biolink:NamedThing Abnormal muscle fiber myotilin A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein. hp0009lx5z Abnormal muscle fibre myotilin UMLS:C4022572 owl:Class HP:5000038 biolink:NamedThing Anti-titin antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin. hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0025388 biolink:NamedThing Thyroid nodule A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland. hp0009lx5z 2017-04-22 11:06:53+00:00 The vast majority of thyroid nodules are benign (noncancerous), but a small proportion of thyroid nodules do contain thyroid cancer. HPO:probinson owl:Class HP:0012371 biolink:NamedThing Hyperplasia of midface Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face hp0009lx5z Big midface|Midfacial prominence|Midfacial excess|Overgrowth of the midface|Hypertrophy of midface|Midface hyperplasia|Large midface This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or anterior-posterior projection (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia. peter 2013-10-13T02:55:54Z HP:0010279 UMLS:C0240309 human_phenotype owl:Class HP:0033309 biolink:NamedThing Ileoileal intussusception A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum. hp0009lx5z 2020-11-28 22:16:36+00:00 peter owl:Class HP:0033957 biolink:NamedThing Cortical radial artery neutrophil hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. hp0009lx5z Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils 2021-06-24 12:30:32+00:00 peter owl:Class HP:0031511 biolink:NamedThing Diagonal earlobe crease Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees. hp0009lx5z 2017-09-21 03:03:14+00:00 peter owl:Class HP:0006290 biolink:NamedThing Discolored lateral incisors The presence of discolored lateral incisors. hp0009lx5z Abnormality of colour of front teeth|Abnormality of color of front teeth|Abnormality of colour of lateral incisor|Abnormality of shade of lateral incisor|Discoloured front teeth|Discoloured lateral incisors|Abnormality of color of lateral incisor|Discolored front teeth UMLS:C4280459|UMLS:C1866510 human_phenotype owl:Class HP:0032968 biolink:NamedThing Expiratory air trapping Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration. hp0009lx5z The extent of air trapping present on expiratory scans can be measured using a semiquantitative scoring system, which estimates the percentage of lung that appears abnormal on each scan. Such systems have the advantage of being simple, quick, and easy to perform at the time of image interpretation. Furthermore, in one study, a simple 5-point scoring system was found to be associated with better interobserver agreement than a more detailed scoring system. peter owl:Class HP:0008113 biolink:NamedThing Multiple plantar creases hp0009lx5z UMLS:C1861873 human_phenotype owl:Class HP:0006069 biolink:NamedThing Severe carpal ossification delay hp0009lx5z Severe delay in maturation of wrist bone UMLS:C1866703|UMLS:C4280466 human_phenotype owl:Class HP:0004926 biolink:NamedThing Orthostatic hypotension due to autonomic dysfunction hp0009lx5z UMLS:C1868528 human_phenotype owl:Class HP:0030752 biolink:NamedThing Dacryocystocele A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve. hp0009lx5z Timo cyst SNOMEDCT_US:42758002|UMLS:C0155241 owl:Class HP:0012436 biolink:NamedThing Nonocclusive coronary artery atherosclerosis Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries. hp0009lx5z Nonocclusive coronary artery stenosis|Nonocclusive coronary artery disease|Non-occlusive coronary artery stenosis|Non-occlusive coronary artery disease peter 2013-11-23T08:50:05Z UMLS:C4020725|UMLS:C4020724 human_phenotype owl:Class HP:0025294 biolink:NamedThing Dermatomal Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution. hp0009lx5z Radicular 2016-12-18 16:17:51+00:00 This distribution can be seen with certain skin findings such as shingles. The term radicular is used to describe a dermatomal distribution of nerve root pain. HPO:probinson owl:Class HP:0008676 biolink:NamedThing Congenital megaureter A developmental disturbance with extreme ureteral dilatation. hp0009lx5z Congenital megaloureter The cause of congenital megaloureter is thought to be aperistalsis of the distal ureter, leading to dilatation. The defect in peristalsis may be due to faulty development of muscle layers of ureter, that is, there is a functional, not a mechanical cause of obstruction. SNOMEDCT_US:95576001|UMLS:C0266324|SNOMEDCT_US:718485003 owl:Class HP:0030871 biolink:NamedThing Facet joint arthrosis Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. hp0009lx5z Facet arthritis Facet joint osteoarthritis (FJ OA) is intimately linked to degenerative disc disease, which affects structures in the anterior aspect of the vertebral column. FJ OA and degenerative disc disease are both common causes of back and neck pain. UMLS:C4280734 owl:Class HP:0003105 biolink:NamedThing Protuberances at ends of long bones The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. hp0009lx5z Protuberances at ends of long bones UMLS:C1851418 human_phenotype owl:Class HP:0001951 biolink:NamedThing Episodic ammonia intoxication hp0009lx5z UMLS:C1839541 human_phenotype owl:Class HP:0010751 biolink:NamedThing Dimple chin A persistent midline depression of the skin over the fat pad of the chin. hp0009lx5z Chin butt|Gelasin of chin|Chin dimples|Chin dent|Chin dimple|Dimple chin|Chin skin dimple|Indentation of chin sdoelken 2010-04-23T10:29:03Z UMLS:C1849227 human_phenotype owl:Class HP:0032171 biolink:NamedThing Bladder pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case. hp0009lx5z 2018-12-16 15:23:31+00:00 peter owl:Class HP:0031025 biolink:NamedThing Gastric leiomyosarcoma A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible. hp0009lx5z 2017-05-21 13:42:26+00:00 Gastric leiomyosarcomas are often clinically silent until they reach a large size, bleed or rupture. Thus, the diagnosis is rarely made preoperatively. Since in many cases the mucosa is normal, a definitive diagnosis for resectable tumour is often made after surgery. Seeding of tumour deposits into the serosa or omentum is almost invariably a sign of malignancy. peter owl:Class HP:0031123 biolink:NamedThing Recurrent gastroenteritis Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. hp0009lx5z 2017-06-10 12:26:09+00:00 peter owl:Class HP:0100626 biolink:NamedThing Chronic hepatic failure hp0009lx5z Chronic liver failure doelkens 2010-12-28T04:59:16Z MSH:D058625|SNOMEDCT_US:235886005|UMLS:C2936476 human_phenotype owl:Class HP:0031933 biolink:NamedThing Aorto-right ventricular tunnel The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle. hp0009lx5z Right ventricle to aorta tunnel 2018-07-04 20:40:18+00:00 peter owl:Class HP:0500181 biolink:NamedThing Hypertaurinemia An increased amount of taurine in the blood. hp0009lx5z Increased circulating taurine levels in the blood|Elevated serum taurine levels 2019-02-22 17:28:00+00:00 owl:Class HP:0004987 biolink:NamedThing Mesomelic leg shortening Shortening of the middle parts of the leg in relation to the upper and terminal segments. hp0009lx5z Mesomelic lower limb shortening|Mesomelia of the lower limbs UMLS:C1969178 human_phenotype owl:Class HP:0007511 biolink:NamedThing Mottled pigmentation of photoexposed areas hp0009lx5z UMLS:C3151964 human_phenotype owl:Class HP:0005951 biolink:NamedThing Progressive inspiratory stridor hp0009lx5z UMLS:C4025096 human_phenotype owl:Class HP:0100687 biolink:NamedThing Polyotia The presence of an extra auricle on one or both sides of the head. hp0009lx5z doelkens 2010-12-30T02:30:14Z UMLS:C0266611|SNOMEDCT_US:35547002 human_phenotype owl:Class HP:0011461 biolink:NamedThing Fetal onset Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). hp0009lx5z Foetal onset The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began. peter 2012-03-25T06:58:21Z UMLS:C4023347 owl:Class HP:0002882 biolink:NamedThing Sudden episodic apnea Recurrent bouts of sudden, severe apnea that may be life-threatening. hp0009lx5z UMLS:C4025671 human_phenotype owl:Class HP:0002677 biolink:NamedThing Small foramen magnum An abnormal narrowing of the foramen magnum. hp0009lx5z Hypoplasia of foramen magnum|Little foramen magnum|Narrow foramen magnum|Stenosis of foramen magnum|Foramen magnum stenosis The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord. HP:0005468 UMLS:C4072838|UMLS:C1535953|UMLS:C1861217|SNOMEDCT_US:444879009 owl:Class HP:0000456 biolink:NamedThing Bifid nasal tip A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. hp0009lx5z Notched nasal tip|Notched tip of nose|Bifid tip of nose|Cleft nasal tip|Cleft tip of nose This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. HP:0005282 UMLS:C0426428|UMLS:C4020890|SNOMEDCT_US:249326006 human_phenotype owl:Class HP:0030021 biolink:NamedThing Auricular tag Small protrusion within the pinna. hp0009lx5z The tag can be located on either side of the pinna. UMLS:C4022674 owl:Class HP:0004287 biolink:NamedThing Pointed hand bones hp0009lx5z Pointed hand bones UMLS:C4025369 human_phenotype owl:Class HP:0032492 biolink:NamedThing Anti-myelin oligodendrocyte glycoprotein antibody positivity Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein. hp0009lx5z Anti-MOG antibody positivity 2019-04-12 10:32:12+00:00 Myelin oligodendrocyte glycoprotein (MOG), a member of the immunoglobulin (Ig) superfamily, is a myelin protein solely expressed at the outermost surface of myelin sheaths and oligodendrocyte membranes. MOG Abs can be found in a subset of predominantly pediatric patients with acute disseminated encephalomyelitis, aquaporin-4 seronegative neuromyelitis optica spectrum disorders, monophasic or recurrent isolated optic neuritis, or transverse myelitis, in atypical multiple sclerosis, and in N-methyl-d-aspartate receptor-encephalitis. peter owl:Class HP:0001116 biolink:NamedThing Macular coloboma A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented. hp0009lx5z Coloboma of the macula UMLS:C1852767|MSH:C535968 human_phenotype owl:Class HP:0032562 biolink:NamedThing Tapered sperm head Sperm with cigar-shaped heads that gradually dimish in diameter (taper). hp0009lx5z 2019-06-15 00:28:27+00:00 peter owl:Class HP:0012325 biolink:NamedThing Chronic myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. hp0009lx5z Chronic myelomonocytic leukaemia peter 2013-08-12T06:45:11Z SNOMEDCT_US:127225006|SNOMEDCT_US:128831004|MSH:D015477|UMLS:C0023480 human_phenotype owl:Class HP:0012240 biolink:NamedThing Increased intramyocellular lipid droplets An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. hp0009lx5z Increased muscle lipid droplets In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibres than in type 2 fibres. peter 2013-04-01T05:17:37Z UMLS:C4020730 human_phenotype owl:Class HP:0032330 biolink:NamedThing Increased urinary 11-deoxycorticosterone level An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine. hp0009lx5z 2019-02-18 13:52:04+00:00 Increased urinary 11-deoxycorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. peter owl:Class HP:0031176 biolink:NamedThing Absent thoracic vertebra A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine. hp0009lx5z 2017-06-18 20:20:53+00:00 peter owl:Class HP:0200028 biolink:NamedThing Pretibial myxedema A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet. hp0009lx5z Graves dermopathy sebastiankohler 2010-06-17T02:32:36Z UMLS:C0033103|UMLS:C0342554|SNOMEDCT_US:78146007|SNOMEDCT_US:237825005 human_phenotype owl:Class HP:0040144 biolink:NamedThing L-2-hydroxyglutaric aciduria An increase in the level of L-2-hydroxyglutaric acid in the urine. hp0009lx5z HPO:skoehler SNOMEDCT_US:237961001|UMLS:C1855995 owl:Class HP:0012788 biolink:NamedThing Reticulate pigmentation of oral mucosa A net-like pattern of increased pigmentation of the oral cavity. hp0009lx5z Reticulate pigmentation of oral mucous membrane|Mottled pigmentation of oral mucosa peter 2014-04-22T09:31:07Z UMLS:C1852148 human_phenotype owl:Class HP:0040230 biolink:NamedThing Decreased level of tissue plasminogen activator The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis hp0009lx5z Decreased level of tPA Requested and created by members of the BRIDGE consortium UMLS:C4280714 owl:Class HP:0012357 biolink:NamedThing Increased mannosylation of N-linked protein glycosylation Increased addition of mannose to N-linked glycans. hp0009lx5z peter 2013-09-15T10:25:28Z UMLS:C4022934 human_phenotype owl:Class HP:0011909 biolink:NamedThing Flattened metacarpal heads Abnormally flat shape of the heads of the metacarpal bones. hp0009lx5z Flattened head of long bone of hand The metacarpal heads articulate with the proximal phalanges of the fingers. peter 2012-06-03T10:23:40Z UMLS:C4023134 human_phenotype owl:Class HP:0011634 biolink:NamedThing Partial left sided absence of pericardium A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart. hp0009lx5z A congenital anomaly and not the result of a pericardectomy. peter 2012-04-08T10:11:59Z UMLS:C4023255 human_phenotype owl:Class HP:0031296 biolink:NamedThing Atrial septal hypertrophy An abnormal increase in the thickness of the atrial septum. hp0009lx5z 2017-08-13 21:41:59+00:00 peter owl:Class HP:0025578 biolink:NamedThing Aortic valve prolapse Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus. hp0009lx5z 2017-12-15 23:47:17+00:00 HPO:probinson Fyler:1452 owl:Class HP:0033794 biolink:NamedThing Acral overgrowth Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement. hp0009lx5z Acromegaly|Acromegalic growth|Acral enlargement|Acral hypertrophy 2021-05-08 12:21:48+00:00 This term should be used to encode the overgrowth of hands and feet that can be seen in acromegaly, a rare disorder caused by excessive growth hormone production, most commonly from an adenoma of the anterior pituitary gland. The resulting production of insulin-like growth factor 1 causes the characteristic overgrowth of certain tissues resulting in coarsening of facial features, enlarging hands and feet, as well as effects on multiple systems throughout the body. The Figure in PMID:30853479 illustrates large hands with stubby fingers characteristic of acromegaly. peter owl:Class HP:0032601 biolink:NamedThing Multinucleation of renal tubular epithelial cells Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. hp0009lx5z peter owl:Class HP:0500108 biolink:NamedThing Positive urine cocaine test Detection of cocaine or its major metabolite, benzoylecgonine, in urine. hp0009lx5z 2018-06-25 15:07:40+00:00 Cocaine is an illicit stimulant that has a high potential for abuse and addiction. owl:Class HP:0011655 biolink:NamedThing Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. hp0009lx5z DORV with subaortic VSD and pulmonary stenosis peter 2012-04-09T10:06:46Z UMLS:C4023244 human_phenotype owl:Class HP:0007599 biolink:NamedThing Generalized reticulate brown pigmentation hp0009lx5z Generalised reticulate brown pigmentation UMLS:C4024836 human_phenotype owl:Class HP:0031588 biolink:NamedThing Unhappy demeanor A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events. hp0009lx5z Unhappy demeanour 2017-10-14 13:22:11+00:00 peter owl:Class HP:0008181 biolink:NamedThing Abetalipoproteinemia An absence of low-density lipoprotein cholesterol in the blood. hp0009lx5z Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. SNOMEDCT_US:190787008|MSH:D000012|UMLS:C0000744 human_phenotype owl:Class HP:0007697 biolink:NamedThing Hypoplasia of the lower eyelids Underdevelopment of the lower eyelid. hp0009lx5z Hypotrophic lower eyelid|Short lower eyelid|Small lower eyelid|Underdevelopment of lower eyelid|Decreased size of lower eyelid UMLS:C4024814|UMLS:C4280270|UMLS:C4280420 human_phenotype owl:Class HP:0033059 biolink:NamedThing Decreased serum complement C6 A reduced level of the complement component C6 in the blood circulation. hp0009lx5z Formation of the MAC is triggered by cleavage of C5 by a C5 convertase, which is followed by sequential interaction of C5b with C6, C7, C8, and C9. Assembly of the MAC on a cellular membrane results in its gradual insertion into the lipid bilayer and the formation of a transmembrane channel, which can kill susceptible cells or transmit activation or apoptotic signals. peter owl:Class HP:0033634 biolink:NamedThing Increased alveolar volume An abnormal elevation in alveolar volume. hp0009lx5z 2021-02-01 13:19:09+00:00 peter owl:Class HP:0032424 biolink:NamedThing Increased HDL2b concentration An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. hp0009lx5z 2019-03-02 13:46:32+00:00 peter owl:Class HP:0006837 biolink:NamedThing Congenital Horner syndrome A type of Horner syndrome with congenital onset. hp0009lx5z UMLS:C1840475|MSH:C564178 human_phenotype owl:Class HP:0040116 biolink:NamedThing Aplasia of the Eustachian tube hp0009lx5z Absent eustachian tube HPO:skoehler SNOMEDCT_US:75231006|UMLS:C0266616 owl:Class HP:0033897 biolink:NamedThing Arcuate artery lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp0009lx5z Cholesterol emboli within arcuate arterial lumen 2021-06-23 22:23:31+00:00 peter owl:Class HP:0001340 biolink:NamedThing Enhancement of the C-reflex Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response. hp0009lx5z UMLS:C3552824 human_phenotype owl:Class HP:0003057 biolink:NamedThing Tetraamelia Amelia of all four limbs. hp0009lx5z Tetra-amelia MSH:C536498|UMLS:C2931216|SNOMEDCT_US:702313004 human_phenotype owl:Class HP:0001531 biolink:NamedThing Failure to thrive in infancy hp0009lx5z Failure to thrive in first year of life|Faltering weight in infancy|Weight faltering in infancy HP:0008925|HP:0008863 UMLS:C1867873 human_phenotype owl:Class HP:0031353 biolink:NamedThing Otitis media with effusion Otitis media characterized by thick or sticky fluid behind the tympanic membrane. hp0009lx5z Fluid behind eardrum 2017-08-27 14:53:18+00:00 peter owl:Class HP:0040137 biolink:NamedThing Comedonal acne A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules. hp0009lx5z Comedogenic acne HPO:skoehler UMLS:C4022418 owl:Class HP:0033847 biolink:NamedThing Phantageusia A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment. hp0009lx5z Phantom taste 2021-06-01 16:48:29+00:00 In contrast to parageusia, phantageusia is not triggered by an environmental stimulus. peter owl:Class HP:0031557 biolink:NamedThing Reduced fibroblast CD55 level Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry. hp0009lx5z 2017-09-24 23:23:25+00:00 peter owl:Class HP:0001188 biolink:NamedThing Hand clenching An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. hp0009lx5z Clenched hands|Hand clenching Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately. UMLS:C0239815 human_phenotype owl:Class HP:0004472 biolink:NamedThing Mandibular hyperostosis Hyperostosis (bony overgrowth) of the mandible. hp0009lx5z Excessive growth of mandibular bone|Hyperostosis of lower jaw|Overgrowth of mandibular bone|Increased ossification of mandible|Thick mandibular bone|Increased ossification of mandibular bone|Increased ossification of lower jaw|Hyperostosis of mandibular bone|Thick lower jaw bone This bundled term will be made obsolete in future versions of the HPO. UMLS:C4280521|UMLS:C4280523|UMLS:C4280522|UMLS:C4025321 human_phenotype owl:Class HP:0031711 biolink:NamedThing Asymmetric abdominal aortic aneurysm An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric). hp0009lx5z 2017-12-22 11:19:37+00:00 Abdominal aortic aneurysms (AAAs) in an advanced stage of development are truly asymmetric, due to the presence of tissue surrounding the abdominal aorta and to the vertebral column located posterior to this artery segment. This makes a large AAA less fusiform and to grow apart from the centerline of the lumen, accounting for a major anterior dilation and a more flat posterior surface. peter owl:Class HP:0003550 biolink:NamedThing Predominantly lower limb lymphedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. hp0009lx5z UMLS:C1835228 human_phenotype owl:Class HP:0032317 biolink:NamedThing Family history of cancer A close blood relative had cancer. hp0009lx5z 2019-02-14 11:43:34+00:00 peter owl:Class HP:0005696 biolink:NamedThing Postaxial polydactyly type A Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. hp0009lx5z MSH:C562429|SNOMEDCT_US:715704001|UMLS:C3887487 human_phenotype owl:Class HP:0002003 biolink:NamedThing Large forehead hp0009lx5z Large forehead|Hyperplasia of forehead|Increased size of frontal region of face|Increased size of forehead|Hypertrophy of forehead UMLS:C4280583|UMLS:C1839783|UMLS:C4280584 human_phenotype owl:Class HP:0033876 biolink:NamedThing Arcuate vein lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp0009lx5z Cholesterol emboli within arcuate vein lumen 2021-06-23 19:27:11+00:00 peter owl:Class HP:0033087 biolink:NamedThing Quotidian fever Fever that occurs at daily intervals. hp0009lx5z peter owl:Class HP:0100651 biolink:NamedThing Type I diabetes mellitus A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. hp0009lx5z Diabetes mellitus Type I|Juvenile diabetes mellitus|Type 1 diabetes|Type I diabetes|Insulin-dependent diabetes mellitus The onset of type 1 diabetes is typically during adolescence, but it can develop at any age. doelkens 2010-12-29T06:37:55Z SNOMEDCT_US:46635009|MSH:D003922|UMLS:C0011854 human_phenotype owl:Class HP:0000866 biolink:NamedThing Euthyroid multinodular goiter hp0009lx5z Euthyroid multinodular goitre UMLS:C1846034 human_phenotype owl:Class HP:0031247 biolink:NamedThing Whooping cough A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. hp0009lx5z 2017-08-12 13:22:51+00:00 The term whooping cough is usually used to describe the disease caused by infection of the respiratory tract with Bordatella pertussis. This HPO term refers to the major symptom of that disease. peter owl:Class HP:0012782 biolink:NamedThing Perilobar nephrogenic rest A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. hp0009lx5z Perilobar nephrogenic rests Perilobar nephrogenic rests are associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia. peter 2014-04-20T03:23:16Z SNOMEDCT_US:405935000|UMLS:C1319017 human_phenotype owl:Class HP:0005210 biolink:NamedThing Hypoplastic colon Underdevelopment of the colon. hp0009lx5z Underdeveloped colon|Hypoplasia of the colon UMLS:C1392839 human_phenotype owl:Class HP:0007420 biolink:NamedThing Spontaneous hematomas Spontaneous development of hematomas (hematoma) or bruises without significant trauma. hp0009lx5z UMLS:C1697453 human_phenotype owl:Class HP:0007747 biolink:NamedThing Monocular horizontal nystagmus hp0009lx5z UMLS:C4024807 human_phenotype owl:Class HP:0011899 biolink:NamedThing Hyperfibrinogenemia Increased concentration of fibrinogen in the blood. hp0009lx5z peter 2012-06-03T03:38:36Z SNOMEDCT_US:439000005|UMLS:C0919890 human_phenotype owl:Class HP:0030558 biolink:NamedThing Best corrected visual acuity 0.5 LogMAR hp0009lx5z UMLS:C4073031 owl:Class HP:0001474 biolink:NamedThing Sclerotic scapulae Increased density of the bony tissue of the scapula. hp0009lx5z UMLS:C1849263 human_phenotype owl:Class HP:0031238 biolink:NamedThing Necklace skeletal muscle fibers A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules. hp0009lx5z Necklace skeletal muscle fibres 2017-07-02 20:13:20+00:00 peter owl:Class HP:0012297 biolink:NamedThing Slender proximal phalanx of finger Reduced diameter of the proximal phalanx of finger. hp0009lx5z Slender innermost bone of finger peter 2013-04-12T05:45:35Z UMLS:C4022961 human_phenotype owl:Class HP:0033941 biolink:NamedThing Granulomatous arteriolitis of the arteriolar intima/media A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. hp0009lx5z Granulomatous arteriolitis within arteriolar intima/media 2021-06-24 01:48:02+00:00 peter owl:Class HP:0410186 biolink:NamedThing Increased glucose-6-phosphate dehydrogenase level in tissue An increase in the level of glucose-6-phosphate dehydrogenase in tissue. hp0009lx5z Increased G6PD level in tissue 2018-05-21 18:03:24+00:00 owl:Class HP:0004502 biolink:NamedThing Bilateral choanal atresia Bilateral absence (atresia) of the posterior nasal aperture (choana). hp0009lx5z Bilateral blockage of the rear opening of the nasal cavity|Bilateral obstruction of the rear opening of the nasal cavity UMLS:C4025317 human_phenotype owl:Class HP:0004621 biolink:NamedThing Enlarged vertebral pedicles Increased size of the vertebral pedicle. hp0009lx5z Hyperplastic vertebral pedicles The vertebral pedicles are the two short, thick processes, which connect the body of the spinal vertebra to the arch. UMLS:C4025303 human_phenotype owl:Class HP:0025178 biolink:NamedThing Subpleural interstitial thickening Increase in thickness of the subpleural interstitium. hp0009lx5z Subpleural scarring 2016-12-04 19:44:43+00:00 Subpleural interstitial thickening can be difficult to recognize where the lung contacts the chest wall or mediastinum but is easy to delineate adjacent to the major fissure. Thickening of the fissure visible on high-resolution computer tomography may represent subpleural interstitial thickening. HPO:probinson owl:Class HP:0000917 biolink:NamedThing Superior pectus carinatum Pectus carinatum affecting primarily the superior part of the sternum. hp0009lx5z Pectus carinatum superiorly UMLS:C1864795 human_phenotype owl:Class HP:0000768 biolink:NamedThing Pectus carinatum A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. hp0009lx5z Pigeon chest HP:0006639 MSH:D066166|UMLS:C0158731|SNOMEDCT_US:205101001 human_phenotype owl:Class HP:0008639 biolink:NamedThing Gonadal hypoplasia hp0009lx5z Underdeveloped gonad UMLS:C0239761 human_phenotype owl:Class HP:0011889 biolink:NamedThing Bleeding with minor or no trauma Significant bleeding or hemorrhage without significant precipitating factor. hp0009lx5z Easy bleeding|Bleeding with minor or no trauma peter 2012-06-02T11:32:13Z UMLS:C4023143 human_phenotype owl:Class HP:0025346 biolink:NamedThing Increased circulating beta-2-microglobulin level Elevated concentration of beta-2-microglobulin in the blood. hp0009lx5z Elevated circulating beta-2-microglobulin level 2017-02-12 13:53:51+00:00 HPO:probinson owl:Class HP:0011404 biolink:NamedThing Lethal short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth. hp0009lx5z Lethal short-trunk dwarfism peter 2012-03-15T09:38:44Z UMLS:C4021151 human_phenotype owl:Class HP:0000378 biolink:NamedThing Cupped ear Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). hp0009lx5z Cupped ear|Simple, cup-shaped ears|Cup-shaped ears|Capuchin ears|Cupped ears HP:0008600|HP:0008531 UMLS:C4020892|UMLS:C1845447 human_phenotype owl:Class HP:0032411 biolink:NamedThing Posterior predominant subcortical band heterotopia Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex. hp0009lx5z Occipital subcortical band heterotopia|Subcortical band heterotopia posterior predominant 2019-02-24 21:13:52+00:00 peter owl:Class HP:0100576 biolink:NamedThing Amaurosis fugax A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. hp0009lx5z doelkens 2010-12-27T12:42:59Z MSH:D020757|UMLS:C0149793|SNOMEDCT_US:88032003 human_phenotype owl:Class HP:0100352 biolink:NamedThing Contracture of the distal interphalangeal joint of the 2nd toe The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. hp0009lx5z Contracture of the distal interphalangeal joint of the second toe UMLS:C4021015 human_phenotype owl:Class HP:0030866 biolink:NamedThing Large knee Abnormally increased size of the knee joint. hp0009lx5z UMLS:C4280736 owl:Class HP:0040112 biolink:NamedThing Abnormal number of tubercles hp0009lx5z HPO:skoehler UMLS:C4022431 owl:Class HP:0040218 biolink:NamedThing Reduced natural killer cell count Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor. hp0009lx5z Reduced NK cell number|Reduced natural killer cell number UMLS:C1855767 owl:Class HP:0031008 biolink:NamedThing Lingual dystonia Involuntary protrusions, movements, spams and contortions of the tongue. hp0009lx5z Tongue dystonia 2017-05-13 21:10:32+00:00 Tongue dystonia may be triggered by speaking but not during other tasks such as eating, drinking, whistling, and blowing. peter owl:Class HP:0001076 biolink:NamedThing Glabellar hemangioma hp0009lx5z Glabellar capillary hemangioma UMLS:C1854408 human_phenotype owl:Class HP:0410003 biolink:NamedThing Cleft maxillary alveolus Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine. hp0009lx5z Cleft alveolar process of maxilla|Cleft anterior maxilla|Alveolar cleft|Cleft primary palate The palate develops from the frontonasal and maxillary prominences between 4 and 12 weeks of gestation. During gestational weeks 4 to 7, the primary palate originates from the median palatine process, which itself originated from frontonasal prominence. The lip, alveolus, and hard palate anterior to the incisive foramen all share this origin in development. During this period, disruptions of palatal development process can result in primary palate clefting. The secondary palate develops from the lateral palatine processes originating from the maxillary prominences between 7 and 12 weeks, and the hard palate posterior to incisive foramen and the soft palate are developmental products of this process. As such, disruptions during this time will result in secondary palate clefts. The alveolus is a component of the primary palate, and alveolar cleft results from mal-development of the frontonasal prominence. As such, it is most closely related to cleft lip and cleft palate. Generally, alveolar clefts are located between the lateral incisor and canine UMLS:C4280276|UMLS:C0432084|SNOMEDCT_US:109546001 owl:Class HP:0003376 biolink:NamedThing Steppage gait An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. hp0009lx5z High stepping|'steppage' gait MSH:D020233|UMLS:C0427149|SNOMEDCT_US:27253007 owl:Class HP:0031908 biolink:NamedThing Micrographia Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task. hp0009lx5z 2018-05-19 15:50:06+00:00 peter owl:Class HP:0012287 biolink:NamedThing Hypothalamic luteinizing hormone-releasing hormone deficiency Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus. hp0009lx5z peter 2013-04-09T07:54:46Z UMLS:C4022967 human_phenotype owl:Class HP:0025200 biolink:NamedThing Muscle fiber actin filament accumulation Accumulation in muscle cells of filaments composed of actin. hp0009lx5z Muscle fibre actin filament accumulation 2016-12-06 03:05:47+00:00 HPO:probinson owl:Class HP:0200127 biolink:NamedThing Atrial cardiomyopathy Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations. hp0009lx5z sebastiankohler 2013-06-11T11:27:27Z UMLS:C4021885 human_phenotype owl:Class HP:0030549 biolink:NamedThing Unaided visual acuity 2.0 LogMAR hp0009lx5z UMLS:C4073023 owl:Class HP:0000997 biolink:NamedThing Axillary freckling The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. hp0009lx5z UMLS:C1860335 human_phenotype owl:Class HP:0002070 biolink:NamedThing Limb ataxia A kind of ataxia that affects movements of the extremities. hp0009lx5z Appendicular ataxia Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways. MSH:D001259|UMLS:C0750937 owl:Class HP:0031582 biolink:NamedThing Tessier number 10 facial cleft In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. hp0009lx5z 2017-10-14 12:49:41+00:00 peter owl:Class HP:0002075 biolink:NamedThing Dysdiadochokinesis A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. hp0009lx5z Difficulty performing quick and alternating movements|Dysdiadochokinesia Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. HP:0002426 SNOMEDCT_US:23133003|UMLS:C0234979 human_phenotype owl:Class HP:0007456 biolink:NamedThing Progressive reticulate hyperpigmentation hp0009lx5z UMLS:C4024872 human_phenotype owl:Class HP:0031233 biolink:NamedThing Horizontal inferior border of scapula A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). hp0009lx5z Squaring of the inferior scapulae|Squaring of the scapula 2017-07-02 13:23:17+00:00 peter owl:Class HP:0006580 biolink:NamedThing Portal fibrosis Fibroblast proliferation and fiber expansion from the portal areas to the lobule. hp0009lx5z Portal fibrosis shown on biopsy Portal fibrosis can be seen in viral hepatitis and other types of liver disease. UMLS:C3805083|UMLS:C2677002 human_phenotype owl:Class HP:0031484 biolink:NamedThing Cold-induced hemolysis A form of hemolytic anemia that can be triggered by cold temperatures. hp0009lx5z 2017-09-17 23:00:31+00:00 peter owl:Class HP:0002958 biolink:NamedThing Immune dysregulation Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. hp0009lx5z Unregulated immune response|Immune dysregulation UMLS:C1844666 human_phenotype owl:Class HP:0006160 biolink:NamedThing Irregular metacarpals Irregular morphology of one or more metacarpal bones. hp0009lx5z Irregular long bones of hand UMLS:C4025086 human_phenotype owl:Class HP:3000002 biolink:NamedThing Abnormal inner ear epithelium morphology Any structural anomaly of an inner ear epithelium. hp0009lx5z haendel 2014-07-15T23:41:38Z UMLS:C4073211 human_phenotype owl:Class HP:0410340 biolink:NamedThing Focal epithelial hyperplasia of oral mucosa The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate. hp0009lx5z Oral mucosa epithelial hyperplasia|Focal epithelial hyperplasia of the lining of mouth owl:Class HP:0025096 biolink:NamedThing Paroxysmal sneezing Unprovoked explosive pathological sneezing. hp0009lx5z 2016-10-24 01:37:09+00:00 HPO:probinson owl:Class HP:0008420 biolink:NamedThing Punctate vertebral calcifications The presence of punctiform calcification of the bone of the vertebral bodies. hp0009lx5z UMLS:C4024678 human_phenotype owl:Class HP:0007425 biolink:NamedThing Hyperextensible skin of face hp0009lx5z Hyperelastic face skin|Stretchable face skin UMLS:C4024883 human_phenotype owl:Class HP:0032942 biolink:NamedThing Avoidance of stimuli associated with traumatic event Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). hp0009lx5z peter owl:Class HP:0100671 biolink:NamedThing Abnormal trabecular bone morphology Abnormal structure or form of trabecular bone. hp0009lx5z Abnormality of bone trabeculation|Abnormal shape of spongy bone doelkens 2010-12-30T01:30:05Z UMLS:C4020957 human_phenotype owl:Class HP:0004764 biolink:NamedThing Myxomatous mitral valve degeneration Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view. hp0009lx5z SNOMEDCT_US:42069006|SNOMEDCT_US:253395003|UMLS:C0264885 human_phenotype owl:Class HP:0001003 biolink:NamedThing Multiple lentigines Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. hp0009lx5z Liver spots Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands. SNOMEDCT_US:72100002|UMLS:C0036651|UMLS:C1328931 human_phenotype owl:Class HP:0030989 biolink:NamedThing Lymphoid cholangitis Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement. hp0009lx5z 2017-05-13 13:40:31+00:00 peter owl:Class HP:0012106 biolink:NamedThing Rhizomelic leg shortening Disproportionate shortening of the proximal segment of the leg (i.e. the femur). hp0009lx5z peter 2012-09-08T03:53:33Z UMLS:C4023039 human_phenotype owl:Class HP:0033807 biolink:NamedThing Absent keratohyalin granules Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin. hp0009lx5z 2021-05-08 15:15:46+00:00 Keratohyalin granules typically contain a mixture of keratin filament bundles, as well as the filament-associated proteins loricrin, filaggrin, and trichohyalin. These granules are insoluble in water and located within the cytoplasm where they promote dehydration of the cell. Their chief function seems to be cross-linking of keratin filaments which creates the tight barrier that is the epidermis, providing the body with an impermeable layer that protects from invasion by foreign particles. This process of cornification of the epidermis effected by KHG is known as keratinization. peter owl:Class HP:0033806 biolink:NamedThing Abnormal epidermis stratum granulosum morphology An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum. hp0009lx5z 2021-05-08 15:13:03+00:00 peter owl:Class HP:0025086 biolink:NamedThing Bloody mucoid diarrhea Passage of many stools containing blood and mucus. hp0009lx5z Bloody mucoid diarrhoea 2016-10-15 13:59:04+00:00 HPO:probinson owl:Class HP:0100494 biolink:NamedThing Abnormal mast cell morphology Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. hp0009lx5z Abnormality of mastocytes|Abnormality of mast cells Mast cells (or mastocytes) can be found in several types of tissues and contain many granules rich in histamine and heparin. Although best known for their role in allergy and anaphylaxis, mast cells play an important protective role as well, being intimately involved in wound healing and defense against pathogens. Mast cells possess a non-lobed nucleus and can work with basophils in the immune defense against worms. Their cell membrane is covered with Fc recepros that may be attached to class E antibodies. doelkens 2010-12-17T04:02:08Z SNOMEDCT_US:397017008|UMLS:C1301149 human_phenotype owl:Class HP:0033740 biolink:NamedThing Grade V vesicoureteral reflux Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter. hp0009lx5z Grade V VUR|VUR V 2021-04-16 14:12:45+00:00 peter owl:Class HP:0007027 biolink:NamedThing Poorly formed metencephalon A morphological abnormality of the metencephalon. hp0009lx5z The metencephalon comprises the pons and the cerebellum; contains a portion of the fourth ventricle; and the trigeminal nerve, abducens nerve, facial nerve, and a portion of the vestibulocochlear nerve. The metencephalon is part of the hindbrain. UMLS:C4024951 human_phenotype owl:Class HP:0025248 biolink:NamedThing Eruptive vellus hair cyst A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge. hp0009lx5z 2016-12-17 13:52:25+00:00 Eruptive vellus hair cysts result from occlusion and cystic dilation of vellus hair follicles. HPO:probinson owl:Class HP:0041086 biolink:NamedThing Compression-fractured cervical vertebra A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. hp0009lx5z Wedge fractured cervical vertebra|Compression fractured cervical vertebra owl:Class HP:0005050 biolink:NamedThing Anterolateral radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. hp0009lx5z Anterior/lateral radial head dislocation UMLS:C1968610 human_phenotype owl:Class HP:0033557 biolink:NamedThing Anti-proteinase 3 antibody positivity The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils hp0009lx5z Anti-PR3 antibody positivity 2021-01-23 12:05:09+00:00 PR3 directed c-ANCA antibodies are present in 80-90% of granulomatosis with polyangiitis, 20-40% of microscopic polyangiitis, 20-40% of pauci-immune crescentic glomerulonephritis and 35% of eosinophilic granulomatosis with polyangiitis. peter owl:Class HP:0011178 biolink:NamedThing Alpha-EEG EEG dominated by diffuse alpha-waves (8-13Hz). hp0009lx5z Alpha-EEG is a rare finding but not generally pathologic. hecht 2011-11-19T10:23:53Z UMLS:C4023494 human_phenotype owl:Class HP:0012538 biolink:NamedThing Gluten intolerance A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease. hp0009lx5z Gluten sensitivity|Gluten intolerance peter 2013-12-15T10:31:34Z MSH:D002446|UMLS:C0850024|SNOMEDCT_US:441831003|SNOMEDCT_US:396331005|UMLS:C0007570 human_phenotype owl:Class HP:0001840 biolink:NamedThing Metatarsus adductus The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. hp0009lx5z Forefoot varus|Metatarsus varus|Intoe|Front half of foot turns inward|Metatarsus adductovarsus Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline. HP:0010217|HP:0001768 UMLS:C0231791|MSH:D000070592|UMLS:C4082169|SNOMEDCT_US:77599005 human_phenotype owl:Class HP:0008150 biolink:NamedThing Elevated serum transaminases during infections Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections. hp0009lx5z UMLS:C1864179 human_phenotype owl:Class HP:0008279 biolink:NamedThing Transient hyperlipidemia hp0009lx5z UMLS:C1850722 human_phenotype owl:Class HP:0011850 biolink:NamedThing Parotitis Inflammation of the parotid gland. hp0009lx5z hecht 2012-05-21T10:33:44Z UMLS:C0030583|MSH:D010309|SNOMEDCT_US:14756005 human_phenotype owl:Class HP:0031836 biolink:NamedThing Increased superoxide dismutase level Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. hp0009lx5z Increased superoxide:superoxide oxidoreductase activity 2018-05-05 13:01:09+00:00 peter owl:Class HP:0025571 biolink:NamedThing Christmas tree cataract A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. hp0009lx5z 2017-12-14 13:58:00+00:00 HPO:probinson owl:Class HP:0031053 biolink:NamedThing Coarctation in the transverse aortic arch Narrowing or constriction of the aorta localized to the region of the transverse aortic arch. hp0009lx5z 2017-05-27 17:07:47+00:00 peter owl:Class HP:0005365 biolink:NamedThing Severe B lymphocytopenia A severe form of B lymphocytopenia in which the count of B cells is very low or absent. hp0009lx5z Absence of B cells|Absent B cells HP:0002856 UMLS:C4020824|UMLS:C1863715 human_phenotype owl:Class HP:0002742 biolink:NamedThing Recurrent Klebsiella infections Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection. hp0009lx5z Klebsiella infections, recurrent UMLS:C4021751 human_phenotype owl:Class HP:0031096 biolink:NamedThing Delayed vertebral ossification A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age. hp0009lx5z 2017-05-30 02:04:19+00:00 peter owl:Class HP:0040216 biolink:NamedThing Hypoinsulinemia A decreased concentration of insulin in the blood. hp0009lx5z UMLS:C2748055 owl:Class HP:0006821 biolink:NamedThing Frontal polymicrogyria A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum. hp0009lx5z Polymicrogyria, anterior to posterior gradient UMLS:C1847356 human_phenotype owl:Class HP:0006775 biolink:NamedThing Multiple myeloma A malignant plasma cell tumor growing within soft tissue or within the skeleton. hp0009lx5z Plasmocytoma|Kahler's disease SNOMEDCT_US:415112005|SNOMEDCT_US:55921005|MSH:D009101|MSH:D010954|UMLS:C0032131|SNOMEDCT_US:10639003|SNOMEDCT_US:109989006|UMLS:C0026764 human_phenotype owl:Class HP:0410369 biolink:NamedThing Increased hepatitis B virus antibody level An abnormally increased level of immunoglobulin against hepatitis B virus in the blood. hp0009lx5z owl:Class HP:0410148 biolink:NamedThing Idiopathic anaphylaxis A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. hp0009lx5z 2018-03-12 21:12:08+00:00 owl:Class HP:3000038 biolink:NamedThing Abnormal cricoid cartilage morphology Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx. hp0009lx5z Abnormality of cricoid cartilage vasilevs 2015-08-07T00:36:11Z UMLS:C4073246 human_phenotype owl:Class HP:0100509 biolink:NamedThing Abnormality of vitamin C metabolism hp0009lx5z Abnormality of vitamin C metabolism doelkens 2010-12-17T06:18:32Z UMLS:C4021863 human_phenotype owl:Class HP:0100185 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 4th toe hp0009lx5z Irregular end part of the middle bone of the 4th toe doelkens 2010-06-24T04:54:13Z UMLS:C4022236 human_phenotype owl:Class HP:0032404 biolink:NamedThing Testicular mass An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer. hp0009lx5z 2019-02-24 18:42:56+00:00 The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. More precise HPO terms should be used if possible. This term should be used only if the etiology has not yet been clarified. peter owl:Class HP:0000634 biolink:NamedThing Impaired ocular abduction An impaired ability of the eye to move in the outward direction (towards the side of the head). hp0009lx5z UMLS:C1846462 human_phenotype owl:Class HP:0004690 biolink:NamedThing Thickened Achilles tendon An abnormal thickening of the Achilles tendon. hp0009lx5z Thickened Achilles tendon UMLS:C0919997 human_phenotype owl:Class HP:0025265 biolink:NamedThing Stiff toe A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity. hp0009lx5z Stiff toe|Toe stiffness 2016-12-18 01:18:04+00:00 HPO:probinson owl:Class HP:0033243 biolink:NamedThing Pulmonary necrosis Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components. hp0009lx5z 2020-11-24 11:51:10+00:00 Cell blebbing (bulky morphology of the cell, disruptin of cell membranes and organelles) and nucleus changes (shrunken nucleus fragments and chromatin condesation) is visible with electron microscope and DAPI staining. The release of cell contents initiates an inflammatory response in the surrounding tissue is detectable with hematoxylin and eosin staining. peter owl:Class HP:0000907 biolink:NamedThing Anterior rib cupping Wide, concave anterior rib end. hp0009lx5z Anteriorly splayed ribs|Anterior cupping of ribs HP:0006601 UMLS:C1846154 human_phenotype owl:Class HP:0000695 biolink:NamedThing Natal tooth A tooth present at birth or erupting within the first month of life. hp0009lx5z Natal teeth|Born with teeth|Teeth present at birth|Neonatal teeth A tooth erupting between the second and fourth month is called a neonatal tooth. A natal tooth is uncommon, the prevalence at birth is 1/2000 to 1/3500 birth. In 85%, the erupted tooth is the deciduous lower incisors, and in 5%, it concerns upper incisors or molars, and in 10%, it involves supernumerary teeth. Natal teeth are usually mobile and lack root formation. SNOMEDCT_US:21995002|SNOMEDCT_US:58748004|UMLS:C0027443|MSH:D009306 owl:Class HP:0025279 biolink:NamedThing Migratory hp0009lx5z 2016-12-18 15:18:09+00:00 HPO:probinson owl:Class HP:0030167 biolink:NamedThing Antimitochondrial antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. hp0009lx5z Serum antimitochrondrial antibodies UMLS:C4021051 owl:Class HP:0032112 biolink:NamedThing Abnormal Pelli Robson contrast sensitivity chart test An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast. hp0009lx5z 2018-11-17 14:25:09+00:00 peter owl:Class HP:0004771 biolink:NamedThing Premature graying of body hair hp0009lx5z Premature graying of body hair|Premature greying of body hair UMLS:C1849125 human_phenotype owl:Class HP:0031202 biolink:NamedThing Waxy casts A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. hp0009lx5z 2017-06-27 11:08:35+00:00 peter owl:Class HP:0008205 biolink:NamedThing Insulin-dependent but ketosis-resistant diabetes Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin. hp0009lx5z UMLS:C1842404 human_phenotype owl:Class HP:0011629 biolink:NamedThing Total absence of the pericardium No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. hp0009lx5z Congenital absence of the pericardium|Absent pericardium peter 2012-04-08T10:06:22Z SNOMEDCT_US:253732001|Fyler:1910|UMLS:C0345140 human_phenotype owl:Class HP:0005316 biolink:NamedThing Peripheral pulmonary vessel aplasia hp0009lx5z UMLS:C1848877 owl:Class HP:0006203 biolink:NamedThing Decreased movement range in interphalangeal joints hp0009lx5z Decreased range of movement range in hinge joints UMLS:C1836772 human_phenotype owl:Class HP:0033809 biolink:NamedThing Increased circulating 17 hydroxypregnenolone concentration Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids. hp0009lx5z 2021-05-09 11:41:20+00:00 Increased concentration of 17 hydroxypregnolone level can be observed in conditions including cytochrome P450 oxidoreductase deficiency. peter owl:Class HP:0005973 biolink:NamedThing Fructose intolerance Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance. hp0009lx5z Fructose malabsorption SNOMEDCT_US:20052008|MSH:D005633|UMLS:C0016751 owl:Class HP:5000023 biolink:NamedThing Anti-Ma1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1. hp0009lx5z ORCID:0000-0002-3387-1836 owl:Class HP:0006544 biolink:NamedThing Extrapulmonary sequestrum A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree. hp0009lx5z Diaphragmatic sequestrum Extrapulmonary sequestra nearly all appear on the left side. UMLS:C4025023|UMLS:C4020814 human_phenotype owl:Class HP:0011505 biolink:NamedThing Cystoid macular edema Cystoid macular edema (CME) is any type of macular edema that involves cyst formation. hp0009lx5z Cystoid macular oedema CME can occur with Irvine-Gass syndrome and other disorders. peter 2012-04-06T09:12:59Z UMLS:C0024440|MSH:D008269|SNOMEDCT_US:193387007 human_phenotype owl:Class HP:0003984 biolink:NamedThing Posteriorly dislocated ulna hp0009lx5z UMLS:C4025465 human_phenotype owl:Class HP:0012406 biolink:NamedThing Hypercitraturia A greater than normal concentration of citrate(3-) in the urine. hp0009lx5z Increased urine citrate concentration peter 2013-11-09T03:56:26Z UMLS:C4021090 human_phenotype owl:Class HP:0007036 biolink:NamedThing Hypoplasia of olfactory tract hp0009lx5z Underdeveloped olfactory tract UMLS:C1856655 human_phenotype owl:Class HP:0008488 biolink:NamedThing Anterior rounding of vertebral bodies hp0009lx5z UMLS:C1850043 human_phenotype owl:Class HP:0033255 biolink:NamedThing Congenital lobar overinflation A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes. hp0009lx5z Congenital lobar emphysema 2020-11-27 19:32:15+00:00 Lobar overinflation is more commonly present in neonate or early infancy with life-threatening respiratory distress. The upper lobes are more frequently affected than the lower one. And more common in males (M:F = 3:1). On imaging, it classically presents on chest radiographs as a hyperlucent lung segment with overinflation and contralateral mediastinal shift. peter owl:Class HP:5000010 biolink:NamedThing Anti-GABA(B)R antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R. hp0009lx5z Anti-gamma-aminobutyric acid B receptor antibody ORCID:0000-0002-3387-1836 owl:Class HP:0012699 biolink:NamedThing Anomaly of lower limb diaphyses A structural abnormality of a diaphysis of the leg. hp0009lx5z Anomaly of shaft of long bone of lower limb peter 2014-03-22T06:14:15Z UMLS:C4022767 human_phenotype owl:Class HP:0000943 biolink:NamedThing Dysostosis multiplex hp0009lx5z HP:0002760 SNOMEDCT_US:65327002|SNOMEDCT_US:254069004|UMLS:C0086795|MSH:D008059 human_phenotype owl:Class HP:0031800 biolink:NamedThing Elevated circulating apolipoprotein A-II concentration An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism. hp0009lx5z Elevated apoA-II level|Elevated APOAII level|Elevated apolipoprotein A-II level|Elevated Apo-AII level 2018-02-25 15:06:30+00:00 peter owl:Class HP:0000905 biolink:NamedThing Progressive clavicular acroosteolysis Progressive bone resorption in the distal part of the clavicle. hp0009lx5z Progressive acroosteolysis of the clavicle UMLS:C1837757 human_phenotype owl:Class HP:0030496 biolink:NamedThing Macular exudate Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. hp0009lx5z Macular exudates|Macular exudation UMLS:C4072984 owl:Class HP:0040281 biolink:NamedThing Very frequent Present in 80% to 99% of the cases. hp0009lx5z Very frequent (99-80%) ORCID:0000-0002-5316-1399 ORPHA:453311 owl:Class HP:0012477 biolink:NamedThing Vocal tremor A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability. hp0009lx5z Shakey voice|Vocal tremor peter 2013-11-28T07:11:37Z UMLS:C4022889 human_phenotype owl:Class HP:0007421 biolink:NamedThing Telangiectases of the cheeks Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. hp0009lx5z Telangiectasia on the cheeks UMLS:C3554587 human_phenotype owl:Class HP:0011667 biolink:NamedThing Bilateral superior vena cava with bridging vein hp0009lx5z peter 2012-04-09T12:00:46Z UMLS:C4023240 owl:Class HP:0010856 biolink:NamedThing EEG with periodic complexes Periodically occurring generalized periodic complexes. hp0009lx5z Radermecker complexes|EEG: periodic complexes peter 2010-07-11T08:38:52Z UMLS:C4021212 human_phenotype owl:Class HP:0006191 biolink:NamedThing Deep palmar crease Excessively deep creases of the palm. hp0009lx5z Deep palm line|Deep palmar creases UMLS:C1857539 human_phenotype owl:Class HP:0032177 biolink:NamedThing Parenchymal consolidation Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). hp0009lx5z 2019-01-06 11:25:27+00:00 In radiographs and CT scans, consolidation appears as a homogeneous increase in pulmonary parenchymal attenuation that obscures the margins of vessels and airway walls (See Figure 19 of PMID:18195376). An air bronchogram may be present. The attenuation characteristics of consolidated lung are only rarely helpful in differential diagnosis (eg, decreased attenuation in lipoid pneumonia and increased in amiodarone toxicity). peter owl:Class HP:0031289 biolink:NamedThing White papule A papule with white color. hp0009lx5z 2017-08-13 20:48:57+00:00 peter owl:Class HP:0011579 biolink:NamedThing Unbalanced atrioventricular canal defect Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). hp0009lx5z Unbalanced atrioventricular septal defect peter 2012-04-08T11:02:44Z UMLS:C3280940 human_phenotype owl:Class HP:0032193 biolink:NamedThing Decreased low-density lipoprotein particle size An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation. hp0009lx5z 2019-01-19 12:51:21+00:00 Elevated levels of low-density lipoprotein (LDL) cholesterol are associated with an increased risk of developing coronary artery disease. LDL particles are the major cholesterol-carrying lipoproteins in the blood circulation, consisting of a hydrophobic core of cholesterol esters and triglycerides surrounded by phospholipds, free cholesterol, and one molecule of apolipoprotein B-100 on the surface of the molecule. The LDL particle population is heterogeneous with the respect to size, density and composition. Distinct subpopulations vary in isoelectric point, electrical charge, hydrodynamic properties and immunoreactivity. peter owl:Class HP:0032428 biolink:NamedThing Increased HDL3a concentration An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. hp0009lx5z 2019-03-02 13:49:23+00:00 peter owl:Class HP:0002678 biolink:NamedThing Skull asymmetry hp0009lx5z Skull asymmetry|Uneven skull shape|Asymmetry of skull|Abnormality of skull shape|Malformation of skull shape|Unequal skull shape UMLS:C4280562|UMLS:C0424690|SNOMEDCT_US:248372000|UMLS:C4280563 owl:Class HP:0001326 biolink:NamedThing EEG with irregular generalized spike and wave complexes EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. hp0009lx5z EEG with irregular generalised spike and wave complexes UMLS:C4025792 human_phenotype owl:Class HP:0004018 biolink:NamedThing Flared radial metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of the radius. hp0009lx5z Broadening of the distal radius UMLS:C4025441 human_phenotype owl:Class HP:4000037 biolink:NamedThing Congenital hydrocele Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through. hp0009lx5z 2021-05-02 20:11:02+00:00 robinp owl:Class HP:0002054 biolink:NamedThing Heavy supraorbital ridges hp0009lx5z Heavy supraorbital ridge|Heavy brow of the face UMLS:C1845107 human_phenotype owl:Class HP:0009908 biolink:NamedThing Anterior creases of earlobe Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. hp0009lx5z Transverse earlobe creases|Earlobe crease Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally. Posterior helical pits can be a related finding but should be assessed and coded separately. peter 2009-05-01T03:00:22Z HP:0008604 UMLS:C1851897 human_phenotype owl:Class HP:0008418 biolink:NamedThing Squared-off platyspondyly hp0009lx5z UMLS:C1849051 human_phenotype owl:Class HP:0012710 biolink:NamedThing Ingrown nail Excessive growth of a nail laterally into the nail fold. hp0009lx5z Ingrown nail peter 2014-03-23T12:09:47Z MSH:D009263|SNOMEDCT_US:400200009|UMLS:C0027343|SNOMEDCT_US:400097005 owl:Class HP:0012583 biolink:NamedThing Unilateral renal hypoplasia One sided hypoplasia of the kidney. hp0009lx5z Underdeveloped kidney on one side|Small kidney on one side peter 2014-01-16T03:15:30Z SNOMEDCT_US:204948009|UMLS:C0431691 human_phenotype owl:Class HP:0025061 biolink:NamedThing Unifocal splenic abscess Single (solitary) abscess in the spleen. hp0009lx5z Unilocular splenic abscess|Solitary splenic abscess 2016-09-26 09:21:20+00:00 HPO:probinson owl:Class HP:0030385 biolink:NamedThing Increased proportion of marginal zone B cells An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. hp0009lx5z UMLS:C4072923 owl:Class HP:0100510 biolink:NamedThing Low levels of vitamin C A reduced concentration of Vitamin C. hp0009lx5z Vitamin C deficiency doelkens 2010-12-17T06:18:50Z MSH:D001206|UMLS:C0003969|SNOMEDCT_US:76169001 human_phenotype owl:Class HP:0007250 biolink:NamedThing Recurrent external ophthalmoplegia Alternating and recurrent weakness of the external ocular muscles. hp0009lx5z UMLS:C4024915 human_phenotype owl:Class HP:0040091 biolink:NamedThing Asymmetry of the size of ears hp0009lx5z Asymmetry of the size of ears HPO:skoehler UMLS:C4022446 owl:Class HP:0010503 biolink:NamedThing Fibular duplication Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. hp0009lx5z Duplicated calf bone peter 2009-09-19T09:45:58Z UMLS:C3276742 human_phenotype owl:Class HP:0030318 biolink:NamedThing Angular cheilitis A type of inflammation of the lips involving one or both of the corners of the mouth. hp0009lx5z Angular stomatitis|Red and sore corners of the mouth|Inflammation of oral commisures|Commissural cheilitis|Angular cheilosis|Inflammation of corners of the mouth SNOMEDCT_US:266429005|UMLS:C0221237 owl:Class HP:0031086 biolink:NamedThing Ectopic ovary Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels. hp0009lx5z Undescended ovary 2017-05-29 00:18:01+00:00 peter owl:Class HP:0000466 biolink:NamedThing Limited neck range of motion hp0009lx5z Limited cervical range of motion|Limited neck range of motion UMLS:C1859212 owl:Class HP:0008798 biolink:NamedThing Widened greater sciatic notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch. hp0009lx5z Widening of the sacrosciatic notch|Widened sacrosciatic notch HP:0010457 UMLS:C4024620 human_phenotype owl:Class HP:0009916 biolink:NamedThing Anisocoria Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. hp0009lx5z Unequal pupil size|Unequal pupil dilatation|Asymmetry of the pupils|Asymmetric pupil sizes Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris. peter 2009-05-02T05:46:50Z UMLS:C0003079|SNOMEDCT_US:13045009|MSH:D015875 human_phenotype owl:Class HP:0001101 biolink:NamedThing Iritis Inflammation of the iris. hp0009lx5z Inflammation of iris MSH:D007500|SNOMEDCT_US:65074000|UMLS:C0022081 human_phenotype owl:Class HP:0031217 biolink:NamedThing Hot flashes Sudden feelings of warmth that are generally most pronounced over the face, neck and chest. hp0009lx5z 2017-07-02 11:38:24+00:00 Hot flashes are most commonly due to menopause but may be observed with other conditions. peter owl:Class HP:0410189 biolink:NamedThing Increased glucose-6-phosphate dehydrogenase level in red blood cells An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells. hp0009lx5z Increased G6PD level in red blood cells|Increased G6PD level in RBCs 2018-05-21 18:03:42+00:00 owl:Class HP:0001483 biolink:NamedThing Eye poking Repetitive pressing, poking, and/or rubbing in the eyes. hp0009lx5z Eye poking is usually observed in children with an intellectual and visual handicap. UMLS:C0233593|SNOMEDCT_US:78894008 human_phenotype owl:Class HP:0007818 biolink:NamedThing Central heterochromia The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone. hp0009lx5z Ring iris heterochromia UMLS:C4021567 human_phenotype owl:Class HP:0030779 biolink:NamedThing Ethmocephaly Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. hp0009lx5z UMLS:C0266680|SNOMEDCT_US:55709000 owl:Class HP:0020173 biolink:NamedThing Reduced drug efficacy Decreased response to a drug intervention in comparison to the expected response. hp0009lx5z Decreased drug efficacy robinp 2019-07-06 21:46:54+00:00 owl:Class HP:0033924 biolink:NamedThing Renal arteriole neutrophil endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. hp0009lx5z Endoarterial hypercellularity within arterioles consisting of neutrophils 2021-06-24 01:04:25+00:00 peter owl:Class HP:0011690 biolink:NamedThing Permanent junctional reciprocating tachycardia An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction. hp0009lx5z peter 2012-04-10T10:36:06Z UMLS:C0340483|SNOMEDCT_US:233904005 human_phenotype owl:Class HP:0003165 biolink:NamedThing Elevated circulating parathyroid hormone level An abnormal increased concentration of parathyroid hormone. hp0009lx5z Increased serum parathyroid hormone|Elevated circulating PTH level|Elevated serum parathyroid hormone|Elevated serum parathyroid hormone level|Elevated serum pth UMLS:C0857973 human_phenotype owl:Class HP:0031336 biolink:NamedThing Intranuclear cardiomyocyte mitochondria Abnormal localization of mitochondria within the nuclei of cardiomyocytes. hp0009lx5z 2017-08-27 13:30:13+00:00 Electron microscopy of mammalian cardiac and skeletal muscle tissues reveal mitochondria as individual organelles situated either in clusters beneath the sarcolemma (subsarcolemmal mitochondria) or in longitudinal rows within the contractile apparatus (interfibrillar mitochondria). peter owl:Class HP:0011624 biolink:NamedThing Apical muscular ventricular septal defect A muscular ventricular septal defect located at the apex of the heart. hp0009lx5z peter 2012-04-08T09:45:43Z UMLS:C4023264 human_phenotype owl:Class HP:0000807 biolink:NamedThing Glandular hypospadias hp0009lx5z UMLS:C0452168|SNOMEDCT_US:204891000|SNOMEDCT_US:429631000124104 human_phenotype owl:Class HP:0001899 biolink:NamedThing Increased hematocrit An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. hp0009lx5z Increased Hct UMLS:C0239935 human_phenotype owl:Class HP:0012458 biolink:NamedThing Medial calcification of small arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries. hp0009lx5z The general construction of small arteries is very similar to that of muscular arteries. The media is still muscular and has up to 8-10 layers of smooth muscle cells. peter 2013-11-24T11:13:13Z UMLS:C4022894 owl:Class HP:0032003 biolink:NamedThing Green urine An abnormal green color of urine. hp0009lx5z 2018-07-15 22:05:52+00:00 peter owl:Class HP:0025088 biolink:NamedThing Onychomadesis Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth. hp0009lx5z 2016-10-24 00:35:53+00:00 Onychomadesis is defined as proximal nail plate separation from the nail matrix and nail bed caused by a temporary arrest in nail matrix activity, and may present as a Beau's line. HPO:probinson owl:Class HP:0003787 biolink:NamedThing Type 1 and type 2 muscle fiber minicore regions Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers. hp0009lx5z Type 1 and type 2 muscle fibre minicore regions UMLS:C4025568 human_phenotype owl:Class HP:0004425 biolink:NamedThing Flat forehead A forehead with abnormal flatness. hp0009lx5z Frontal flattening|Flattened forehead|Flat forehead peter 2008-03-18T09:41:00Z HP:0004659 UMLS:C1857485 human_phenotype owl:Class HP:0004966 biolink:NamedThing Medial calcification of large arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. hp0009lx5z UMLS:C4025265 owl:Class HP:0033538 biolink:NamedThing Aortic annulus calcification Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract. hp0009lx5z Aortic annular calcification 2021-01-20 12:07:10+00:00 Anatomically, the aortic annulus (AA) is a complex 3-dimensional (3D) crown-shape structure that is part of the fibrous skeleton of the heart. From a surgical stand point, the AA is generally located at the anatomic ventriculoaortic junction onto which a prosthetic valve can be sewn. Conversely, from an imaging perspective, the annulus corresponds to a virtual ring formed by linking the basal attachments of the 3 aortic leaflets. peter owl:Class HP:0033679 biolink:NamedThing Abnormal red nucleus morphology Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement. hp0009lx5z 2021-03-06 13:01:58+00:00 peter owl:Class HP:0041199 biolink:NamedThing Fractured interphalangeal joint A partial or complete breakage of the interphalangeal joint. hp0009lx5z bone interphalangeal joint owl:Class HP:0006638 biolink:NamedThing Midclavicular aplasia Developmental defect resulting in congenital absence of the middle portion of the clavicle. hp0009lx5z Missing middle part of collarbone UMLS:C1844529 human_phenotype owl:Class HP:0011232 biolink:NamedThing Infra-orbital fold Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge. hp0009lx5z Infraorbital fold|Dennie-Morgan fold This term excludes epicanthus inversus. peter 2011-12-14T07:00:48Z UMLS:C4023449 human_phenotype owl:Class HP:0011906 biolink:NamedThing Reduced beta/alpha synthesis ratio A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. hp0009lx5z peter 2012-06-03T05:41:20Z UMLS:C4023137 human_phenotype owl:Class HP:0030581 biolink:NamedThing Pinhole visual acuity 1.3 LogMAR hp0009lx5z UMLS:C4073054 owl:Class HP:0008475 biolink:NamedThing Hypoplastic sacral vertebrae hp0009lx5z UMLS:C2751479 human_phenotype owl:Class HP:0410393 biolink:NamedThing Increased proportion of central memory CD4-positive, alpha-beta T cells An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z Elevated proportion of CD4+ central memory cells|Increased proportion of CD4+ central memory cells|Elevated proportion central memory CD4-positive, alpha-beta T cells|Increased proportion of central memory CD4+, alpha-beta T cell These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. HP:0025621 owl:Class HP:0012560 biolink:NamedThing Decreased T3/T4 ratio A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal. hp0009lx5z peter 2014-01-04T01:54:13Z UMLS:C4022845 human_phenotype owl:Class HP:0005477 biolink:NamedThing Progressive sclerosis of skull base Progressively increasing bone density of the skull base without significant changes in bony contour. hp0009lx5z UMLS:C1835470 human_phenotype owl:Class HP:0008785 biolink:NamedThing Delayed ossification of pubic rami Delayed maturation and calcification of the rami (branches) of the pubic bone. hp0009lx5z UMLS:C1865363 human_phenotype owl:Class HP:0032356 biolink:NamedThing Decreased pre-bronchodilator forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication. hp0009lx5z Decreased prebronchodilator forced vital capacity|Decreased pre bronchodilator forced vital capacity 2019-02-23 17:02:47+00:00 peter owl:Class HP:0000321 biolink:NamedThing Square face Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. hp0009lx5z Square facial shape|Square facies|Square face UMLS:C1832127 human_phenotype owl:Class HP:0031121 biolink:NamedThing Bicuspid aortic valve with left-noncoronary cusp fusion A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure. hp0009lx5z 2017-06-10 12:04:18+00:00 peter owl:Class HP:0010479 biolink:NamedThing Patent urachus Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus. hp0009lx5z Persistent urachus peter 2009-09-15T10:15:17Z UMLS:C0266357|SNOMEDCT_US:398316009 human_phenotype owl:Class HP:0003305 biolink:NamedThing Block vertebrae Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). hp0009lx5z UMLS:C1844753 human_phenotype owl:Class HP:0030004 biolink:NamedThing Cicatricial lagophthalmos A type of lagophthalmos that occurs following trauma or surgery. hp0009lx5z Inability to close the eyelids due to scarring|Eyelids stay open due to scarring SNOMEDCT_US:9042000|UMLS:C0155199 owl:Class HP:0032710 biolink:NamedThing Focal aware cognitive seizure with receptive dysphasia/aphasia A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure. hp0009lx5z peter owl:Class HP:0032543 biolink:NamedThing Lithoptysis Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen. hp0009lx5z 2019-05-27 15:19:14+00:00 peter owl:Class HP:0100202 biolink:NamedThing Absent epiphysis of the distal phalanx of the 5th toe hp0009lx5z Absent end part of the outermost bone of the pinky toe|Absent end part of the outermost bone of the little toe|Absent end part of the outermost bone of the pinkie toe doelkens 2010-06-24T05:03:31Z UMLS:C4022219 human_phenotype owl:Class HP:0031209 biolink:NamedThing Decreased circulating lipoprotein lipase concentration Reduction in the level of lipoprotein lipase in the blood. hp0009lx5z Decreased lipoprotein lipase level 2017-07-02 10:57:10+00:00 Decreased plasma lipoprotein lipase activity is associated with delayed clearance of triglyceride-rich lipoproteins and low fasting HDL cholesterol. peter owl:Class HP:0040212 biolink:NamedThing Risus sardonicus Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles. hp0009lx5z Rictus grin Accompanied by rigidity of neck and trunk muscles and arching of back. Often observed as a sign of tetanus. PhenoTips:CHum UMLS:C0343494|SNOMEDCT_US:64314006 owl:Class HP:0100893 biolink:NamedThing Prominent xiphoid process Increased prominence of the xiphoid process of the sternum. hp0009lx5z Prominent xiphisternum doelkens 2011-12-01T05:10:05Z UMLS:C4020942 human_phenotype owl:Class HP:0410167 biolink:NamedThing Abnormal morphology of the chest musculature Any abnormality of the chest muscles. hp0009lx5z Muscle issues in the chest|Abnormality of the chest musculature 2018-05-01 17:37:03+00:00 owl:Class HP:0030738 biolink:NamedThing Altman type II sacrococcygeal teratoma A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component. hp0009lx5z UMLS:C4280794 owl:Class HP:0007021 biolink:NamedThing Pain insensitivity Inability to perceive painful stimuli. hp0009lx5z Absence of pain sensation The word Anesthesia is occasionally used to refer to lack of pain sensation, although it is more usually used to denote a medical procedure design to relieve pain. HP:0003404 SNOMEDCT_US:38433004|UMLS:C0344307 human_phenotype owl:Class HP:0004423 biolink:NamedThing Cranium bifidum occultum hp0009lx5z peter 2008-03-18T09:37:00Z MSH:C566826|SNOMEDCT_US:718099006|UMLS:C1868598 human_phenotype owl:Class HP:0008723 biolink:NamedThing Gonadal dysgenesis with female appearance, male Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. hp0009lx5z Xy female gonadal dysgenesis Very bad term - try to get rid of it later. UMLS:C4020788|UMLS:C4024632 human_phenotype owl:Class HP:0007321 biolink:NamedThing Deep white matter hypodensities Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. hp0009lx5z Deep cerebral white matter hypodensities See also defintion for "Periventricular white matter hypodensities". These two entities are in contra-distinction to each other. ORCID:0000-0002-5316-1399 UMLS:C1856979 human_phenotype owl:Class HP:0003837 biolink:NamedThing Soft-tissue ossification around the shoulders Formation of calcified tissue in the soft tissues surrounding the shoulder. hp0009lx5z Calcification of the soft-tissue around the shoulders UMLS:C4025561 human_phenotype owl:Class HP:0100518 biolink:NamedThing Dysuria Painful or difficult urination. hp0009lx5z Dull burning sensation with urination|Painful or difficult urination doelkens 2010-12-20T10:40:36Z UMLS:C0013428|MSH:D053159|SNOMEDCT_US:49650001 human_phenotype owl:Class HP:0410333 biolink:NamedThing Seafood allergy Hypersensitivity in form of an adverse immune reaction against seafood. hp0009lx5z IgE-mediated seafood allergy|Immunoglobulin E-mediated seafood allergy|Allergy to seafood|Seafood allergy owl:Class HP:0005168 biolink:NamedThing Elevated right atrial pressure An abnormal increase in magnitude of the pressure in the right atrium. hp0009lx5z Elevated mean right atrial pressure (RAP) can be measured by cardiac catheterization. UMLS:C1867421 human_phenotype owl:Class HP:0011646 biolink:NamedThing Juxtaductal coarctation of the aorta Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch. hp0009lx5z Juxtaductal coarctation usually presents when the ductus arteriosus closes. peter 2012-04-09T09:41:05Z UMLS:C4023250 human_phenotype owl:Class HP:0005495 biolink:NamedThing Metopic suture patent to nasal root The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root. hp0009lx5z This feature is a characteristic of Schinzel-Giedion midface retraction syndrome. UMLS:C4025189 human_phenotype owl:Class HP:0004235 biolink:NamedThing Comma-shaped carpal bones hp0009lx5z Comma-shaped wrist bones UMLS:C4025402 human_phenotype owl:Class HP:0011827 biolink:NamedThing Malaligned philtral ridges Absence of the usual parallel position of philtral ridges. hp0009lx5z Asymmetric philtral ridges|Philtral Ridges, Malaligned|Malaligned philtral columns|Asymmetric philtral columns Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using this term. peter 2012-05-01T10:35:32Z UMLS:C4021117 human_phenotype owl:Class HP:0031754 biolink:NamedThing Medial rectus muscle overaction Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. hp0009lx5z 2018-01-21 14:26:34+00:00 peter owl:Class HP:0033765 biolink:NamedThing Death in late adulthood Death at an age of at least 60 years. hp0009lx5z 2021-04-30 11:21:09+00:00 peter owl:Class HP:0025631 biolink:NamedThing Alpha-aminobutyric aciduria Increased amount of alpha-aminobutyric acid in the urine. hp0009lx5z 2019-04-09 01:21:25+00:00 HPO:probinson owl:Class HP:0410306 biolink:NamedThing Partial absence of specific antibody response to meningococcus vaccine A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:04:31+00:00 owl:Class HP:0031179 biolink:NamedThing Nuchal rigidity Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. hp0009lx5z Meningism 2017-06-18 20:41:44+00:00 Meningism is resistance to neck flexion due to painful spasm of extensor muscles resulting from meningeal irritation. The diagnosis of meningism is made in someone whose symptoms simulate meningitis, but in which no actual inflammation of these membranes is present. Nuchal rigidity can thus be observed in individuals with meningitis or with meningism. peter owl:Class HP:0031510 biolink:NamedThing Linear earlobe crease A transverse linear fissure (crease) in the lobule of the ear. hp0009lx5z 2017-09-21 03:01:32+00:00 This feature may be observed in Beckwith Wiedemann syndrome. peter owl:Class HP:0003888 biolink:NamedThing Flattened humeral heads hp0009lx5z Flattended head of long bone in upper arm UMLS:C3808869 human_phenotype owl:Class HP:0100347 biolink:NamedThing Tibial deviation of the 5th toe hp0009lx5z doelkens 2010-11-11T03:44:27Z UMLS:C4022133 human_phenotype owl:Class HP:0000183 biolink:NamedThing Difficulty in tongue movements hp0009lx5z Hypokinesia of the tongue|Difficulty in tongue movements|Lingual hypokinesia|Difficulty in lingual movements UMLS:C1853406|UMLS:C4280676 human_phenotype owl:Class HP:0040122 biolink:NamedThing Impairment of the the acoustic reflex hp0009lx5z HPO:skoehler UMLS:C4022425 owl:Class HP:0410315 biolink:NamedThing Increased urinary 1-methylhistidine Increased concentration of 1-methylhistidine in the urine. hp0009lx5z 1-Methylhistidinuria owl:Class HP:0030490 biolink:NamedThing Exudative vitreoretinopathy hp0009lx5z UMLS:C4072980 owl:Class HP:0011996 biolink:NamedThing Elevated coagulation factor V activity Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. hp0009lx5z Elevated factor V activity|Plasma factor V elevated peter 2012-07-19T11:40:31Z UMLS:C4021106 human_phenotype owl:Class HP:0000636 biolink:NamedThing Upper eyelid coloboma A short discontinuity of the margin of the upper eyelid. hp0009lx5z Full thickness defect of the upper eyelid|Notched upper eyelid|Upper eyelid colobomas|Cleft upper eyelid|Coloboma of the upper eyelid UMLS:C1863872 human_phenotype owl:Class HP:0003725 biolink:NamedThing Firm muscles hp0009lx5z UMLS:C1850656 human_phenotype owl:Class HP:0005190 biolink:NamedThing Proximal finger joint hyperextensibility hp0009lx5z UMLS:C4025242 human_phenotype owl:Class HP:0001187 biolink:NamedThing Hyperextensibility of the finger joints The ability of the finger joints to move beyond their normal range of motion. hp0009lx5z Hyperextensible finger|Hyperextensible fingers|Hyperextensible digits|Finger joint hyperextensibility HP:0006158 UMLS:C1844577 human_phenotype owl:Class HP:0011548 biolink:NamedThing Absent right sided atrioventricular connection A defect where there is no connection between the right atrium and right ventricle. hp0009lx5z Absent right sided atrioventricular connexion peter 2012-04-07T11:30:44Z UMLS:C0344624|SNOMEDCT_US:253285007 human_phenotype owl:Class HP:0031070 biolink:NamedThing Decreased femoral torsion Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range. hp0009lx5z 2017-05-28 22:59:52+00:00 peter owl:Class HP:0002055 biolink:NamedThing Curved linear dimple below the lower lip hp0009lx5z UMLS:C1844572 human_phenotype owl:Class HP:0011352 biolink:NamedThing Severe receptive language delay A severe delay in the acquisition of the ability to understand the speech of others. hp0009lx5z peter 2012-03-01T10:53:30Z UMLS:C3532947|SNOMEDCT_US:89391000119105 owl:Class HP:0040304 biolink:NamedThing Duplication of the sella turcica hp0009lx5z Duplicated sella turcica|Duplicate sella turcica owl:Class HP:0011820 biolink:NamedThing Membranous choanal atresia Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike. hp0009lx5z peter 2012-04-29T01:12:43Z UMLS:C4023174 human_phenotype owl:Class HP:0410173 biolink:NamedThing Increased circulating troponin I concentration An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. hp0009lx5z Increased troponin I level in blood 2018-05-18 20:20:47+00:00 owl:Class HP:0410138 biolink:NamedThing Vibratory urticaria Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. hp0009lx5z 2018-03-02 20:14:35+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0006684 biolink:NamedThing Ventricular preexcitation with multiple accessory pathways A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. hp0009lx5z UMLS:C4025004 human_phenotype owl:Class HP:0410397 biolink:NamedThing Bronchiolectasis Saccular dilatation of the terminal bronchioles. hp0009lx5z Bronchiolectasia owl:Class HP:0031032 biolink:NamedThing Decreased retinol-binding protein level A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity. hp0009lx5z 2017-05-27 11:03:28+00:00 peter owl:Class HP:0005191 biolink:NamedThing Congenital knee dislocation hp0009lx5z Dislocated knee since birth SNOMEDCT_US:59068006|UMLS:C0265669 human_phenotype owl:Class HP:0008110 biolink:NamedThing Equinovarus deformity hp0009lx5z UMLS:C0009081|SNOMEDCT_US:397932003|SNOMEDCT_US:249808002|MSH:D003025 human_phenotype owl:Class HP:0004866 biolink:NamedThing Impaired ADP-induced platelet aggregation Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. hp0009lx5z UMLS:C4025282 human_phenotype owl:Class HP:0033443 biolink:NamedThing Elevated circulating propionylcarnitine concentration Increased concentration of propionylcarnitine in the blood circulation. hp0009lx5z 2021-01-09 18:50:06+00:00 peter owl:Class HP:0025320 biolink:NamedThing Leakage of dye on fundus fluorescein angiography Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins. hp0009lx5z Fluorescein leakage 2017-01-25 14:52:18+00:00 Leakage can be caused by incompetent blood vessels such as with choroidal or diabetic neovascularization. Alternatively, leakage can be associated with a diseased retinal pigment epithelium resulting in leakage of fluorescein from the choroid. HPO:probinson owl:Class HP:0012515 biolink:NamedThing Hip flexor weakness Reduced ability to flex the femur, that is, to pull the knee upward. hp0009lx5z Hip flexion is mediated by multiple muscles including the iliopsoas, the rectus femoris, the sartorius, and several muscles from the medial compartment of thigh. peter 2013-12-08T09:14:34Z UMLS:C3279725 human_phenotype owl:Class HP:0025213 biolink:NamedThing Triggered by galactose ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose. hp0009lx5z Triggered by ingestion of lactose-containing milk 2016-12-10 13:51:49+00:00 HPO:probinson owl:Class HP:0033183 biolink:NamedThing Bilobed right lung A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung. hp0009lx5z 2020-10-04 11:44:07+00:00 The normal anatomy of the right lung comprises three lobes: the upper, middle, and lower lobes, and that of the left lung consists of two lobes: the upper and lower lobes. peter owl:Class HP:0030577 biolink:NamedThing Pinhole visual acuity 0.9 LogMAR hp0009lx5z UMLS:C4073050 owl:Class HP:0002526 biolink:NamedThing Deficit in nonword repetition Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory. hp0009lx5z UMLS:C4025702 owl:Class HP:0006583 biolink:NamedThing Fatal liver failure in infancy hp0009lx5z Fatal liver failure in infancy UMLS:C4025017 human_phenotype owl:Class HP:0007054 biolink:NamedThing Hyperreflexia proximally hp0009lx5z UMLS:C1836012 owl:Class HP:0031655 biolink:NamedThing Quadricuspid aortic valve The presence of an aortic valve with four instead of the normal three cusps (flaps). hp0009lx5z 2017-12-17 15:32:01+00:00 peter owl:Class HP:0002909 biolink:NamedThing Generalized aminoaciduria An increased concentration of all types of amino acid in the urine. hp0009lx5z Generalized nonspecific aminoaciduria|Generalised aminoaciduria|Generalised nonspecific aminoaciduria This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased. HP:0008317|HP:0008284 UMLS:C1847868 owl:Class HP:0031820 biolink:NamedThing Decreased waist to hip ratio Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. hp0009lx5z Decreased waist-hip ratio|Decreased WHR|Decreased waist-to-hip ratio 2018-05-01 02:11:00+00:00 peter owl:Class HP:0011995 biolink:NamedThing Atrial septal dilatation A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. hp0009lx5z Atrial septal aneurysm Atrial septal aneurysm formation may be secondary to raised interatrial pressure gradients, producing a bulging septal shift toward the low-pressure side. However, it has been also found in patients with normal atrial pressures, suggesting a primary (congenital) malformation. peter 2012-07-19T11:35:07Z UMLS:C0521533|SNOMEDCT_US:95440004 human_phenotype owl:Class HP:0012218 biolink:NamedThing Alveolar soft part sarcoma A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. hp0009lx5z peter 2013-03-30T06:48:50Z UMLS:C0206657|MSH:D018234|SNOMEDCT_US:88195001|SNOMEDCT_US:404056007 human_phenotype owl:Class HP:0011516 biolink:NamedThing Achromatopsia A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. hp0009lx5z Rod monochromacy|Rod monochromatism The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa. peter 2012-04-06T06:40:03Z UMLS:C0302129|MSH:C536021|SNOMEDCT_US:102450007 human_phenotype owl:Class HP:0003722 biolink:NamedThing Neck flexor weakness Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). hp0009lx5z Neck flexor muscle weakness|Neck flexion weakness HP:0000469 UMLS:C1843637 human_phenotype owl:Class HP:0031639 biolink:NamedThing Absent left main coronary artery The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava. hp0009lx5z Absent LMCA 2017-12-17 12:56:17+00:00 peter owl:Class HP:0006644 biolink:NamedThing Thoracic dysplasia hp0009lx5z UMLS:C1406921 human_phenotype owl:Class HP:0031578 biolink:NamedThing Tessier number 6 facial cleft A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid. hp0009lx5z Tessier facial cleft number 6 2017-10-14 12:43:34+00:00 peter owl:Class HP:0001149 biolink:NamedThing Lattice corneal dystrophy The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. hp0009lx5z Biber haab dimmer dystrophy SNOMEDCT_US:361199007|SNOMEDCT_US:1192004|MSH:D028227|UMLS:C0155127 human_phenotype owl:Class HP:0005511 biolink:NamedThing Heinz body anemia Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. hp0009lx5z Heinz body anaemia UMLS:C0700299|MSH:C563030 human_phenotype owl:Class HP:0012254 biolink:NamedThing Ewing sarcoma A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. hp0009lx5z Ewing's sarcoma|Ewing sarcoma Histologically, Ewing's sarcoma is composed of a homogeneous population of small round cells with high nuclear to cytoplasmic ratios that are arrayed in sheets. There is scant cytoplasms, which is pale, vacuolated and characterized by faded boundaries. In contrast, the nuclei are clearly visualized by their intense color. Mitotic activity is typically low. peter 2013-04-07T01:54:14Z SNOMEDCT_US:76909002|MSH:D012512|UMLS:C0553580 human_phenotype owl:Class HP:0032980 biolink:NamedThing Absent bronchoalveolar surfactant-protein C Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region. hp0009lx5z peter owl:Class HP:0020095 biolink:NamedThing Prolonged need of intravenous antibiotic therapy Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time. hp0009lx5z 2019-04-08 17:48:52+00:00 robinp owl:Class HP:0007658 biolink:NamedThing Large hyperpigmented retinal spots hp0009lx5z UMLS:C4024820 human_phenotype owl:Class HP:0007581 biolink:NamedThing Mediosternal, longitudinal streak of hypopigmentation hp0009lx5z UMLS:C4024840 human_phenotype owl:Class HP:0006278 biolink:NamedThing Ectopic pancreatic tissue The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut. hp0009lx5z Abnormal pancreas location UMLS:C0994638|SNOMEDCT_US:264304000 human_phenotype owl:Class HP:0100416 biolink:NamedThing Partial duplication of the distal phalanx of the 3rd toe Partial duplication of distal phalanx of third toe. hp0009lx5z Partial duplication of the distal phalanx of the third toe|Partial duplication of the outermost bone of the 3rd toe UMLS:C4020983 human_phenotype owl:Class HP:0025227 biolink:NamedThing Triggered by excitement Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled. hp0009lx5z Excitement triggered symptoms|Triggered by startle|Triggered by excitement 2016-12-10 14:28:21+00:00 HPO:probinson owl:Class HP:0033244 biolink:NamedThing Glycogen accumulation in pulmonary interstitial cells Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells. hp0009lx5z 2020-11-25 11:33:29+00:00 peter owl:Class HP:0009094 biolink:NamedThing Cleft lower alveolar ridge hp0009lx5z Cleft of lower alveolar process|Cleft of lower gum ridge|Notch of lower alveolar ridge|Cleft of mandibular gingiva|Notch of lower gum ridge|Notch of lower alveolar process|Cleft of mandibular alveolar process|Notch of mandibular alveolar process|Notch of mandibular alveolar ridge|Cleft of lower gingiva UMLS:C4280406|UMLS:C1849350|UMLS:C4280405|UMLS:C4280404 human_phenotype owl:Class HP:0012298 biolink:NamedThing Long middle phalanx of finger Increased length of the middle phalanx of finger. hp0009lx5z Long middle bone of finger peter 2013-04-12T05:46:43Z UMLS:C4022960 human_phenotype owl:Class HP:0040229 biolink:NamedThing Decreased level of thrombomodulin Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot hp0009lx5z BDCA-3 Requested and created by members of the BRIDGE consortium UMLS:C4255334 owl:Class HP:0007206 biolink:NamedThing Hemimegalencephaly Enlargement of all or parts of one cerebral hemisphere. hp0009lx5z The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia. MSH:D065705|UMLS:C0431391|SNOMEDCT_US:253170008 human_phenotype owl:Class HP:0012660 biolink:NamedThing Thalamic hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan. hp0009lx5z Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the thalamus. peter 2014-02-15T11:35:25Z UMLS:C4022796 human_phenotype owl:Class HP:0007459 biolink:NamedThing Generalized anhidrosis hp0009lx5z Generalized inability to sweat|Generalised inability to sweat|Generalised anhydrosis|Generalized anhydrosis|Generalised anhidrosis UMLS:C4024869 human_phenotype owl:Class HP:0004432 biolink:NamedThing Agammaglobulinemia A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. hp0009lx5z Agammaglobulinaemia peter 2008-03-18T09:47:00Z HP:0008328 SNOMEDCT_US:119249001|UMLS:C0001768|MSH:D000361 human_phenotype owl:Class HP:0003932 biolink:NamedThing Sclerotic foci of humeral diaphysis hp0009lx5z UMLS:C4025497 human_phenotype owl:Class HP:0001659 biolink:NamedThing Aortic regurgitation An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. hp0009lx5z Aortic insufficiency|Aortic valve regurgitation UMLS:C0003504|MSH:D001022|SNOMEDCT_US:60234000 human_phenotype owl:Class HP:0005671 biolink:NamedThing Bilateral intracerebral calcifications Deposition of calcium salts on both sides of the brain. hp0009lx5z Bilateral intracranial calcifications UMLS:C4025159 owl:Class HP:0033003 biolink:NamedThing Tracheal papilloma A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea. hp0009lx5z peter owl:Class HP:0031615 biolink:NamedThing Hypopyon Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber. hp0009lx5z 2017-12-16 13:13:37+00:00 peter owl:Class HP:0033916 biolink:NamedThing Medial/intimal arcuate venosclerosis Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. hp0009lx5z 2021-06-23 23:19:47+00:00 peter owl:Class HP:0033925 biolink:NamedThing Renal arteriole lymphocyte endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. hp0009lx5z Endoarterial hypercellularity within arterioles consisting of lymphocytes 2021-06-24 01:06:07+00:00 peter owl:Class HP:0006350 biolink:NamedThing Pulp obliteration Mineralized substance filling the entire dental pulp space. hp0009lx5z Crescent/chevron-shaped pulp chambers|Obliteration of the pulp chamber|Pulp canal obliteration|Narrowing of pulp chamber of tooth|Reduced size of pulp chamber of tooth|Small pulp chamber of tooth The diagnosis pulp obliteration can be established using radiological studies. Gradual obliteration of the pulp is a physiologic process that occurs with aging. On radiographs the contours of the pulp disappear in part or totally, but histologically pulpal tissue remains present. UMLS:C4025057|UMLS:C4280448|UMLS:C4020817 owl:Class HP:0010780 biolink:NamedThing Hyperacusis Over-sensitivity to certain frequency ranges of sound. hp0009lx5z Loudness intolerance|Sensitivity to noise Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Listeners with hearing loss often struggle to detect low-level sounds, but as the sound intensity rises above threshold, loudness initially grows at a faster than normal rate, but the growth rate slows with increasing intensity so that normal loudness is achieved at high intensities. This phenomenon is referred to as loudness recruitment. However, in some hearing-impaired listeners,loudness continues to grow more rapidly than normal at suprathreshold intensities causing moderately intense sounds to be perceived as louder than normal, a debilitating condition known as hyperacusis or loudness intolerance. doelkens 2010-04-29T04:42:44Z SNOMEDCT_US:25289003|SNOMEDCT_US:194399009|UMLS:C0034880|MSH:D012001 owl:Class HP:0025595 biolink:NamedThing Superior oblique muscle underaction Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. hp0009lx5z Under-depression in adduction 2018-01-13 20:46:33+00:00 HPO:probinson owl:Class HP:0012565 biolink:NamedThing Premature epimetaphyseal fusion in fibula Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. hp0009lx5z peter 2014-01-04T02:08:23Z UMLS:C4021838 human_phenotype owl:Class HP:0002230 biolink:NamedThing Generalized hirsutism Abnormally increased hair growth over much of the entire body. hp0009lx5z Generalised hirsutism|Excessive hairiness over body UMLS:C1849211 human_phenotype owl:Class HP:0031555 biolink:NamedThing Reduced granulocyte CD59 level Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry. hp0009lx5z 2017-09-24 23:23:06+00:00 peter owl:Class HP:0032489 biolink:NamedThing Elevated fecal pH Abnormally high fecal pH, i.e., abnormal alkalinity of feces. hp0009lx5z Elevated faecal pH 2019-04-11 11:45:31+00:00 peter owl:Class HP:0012818 biolink:NamedThing Biventricular noncompaction cardiomyopathy Noncompaction cardiomyopathy that affects both ventricles. hp0009lx5z hecht 2014-05-28T08:49:23Z UMLS:C4022713 human_phenotype owl:Class HP:0012519 biolink:NamedThing Hypoplastic posterior communicating artery Underdeveloped posterior communicating artery. hp0009lx5z Hypoplastic posterior communicating arteries The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis. peter 2013-12-09T07:06:12Z UMLS:C4020720 human_phenotype owl:Class HP:0030214 biolink:NamedThing Hypersexuality Pathological persistent sexual disinhibiting behavior, directed at oneself or to others. hp0009lx5z Sex addiction UMLS:C0679145|SNOMEDCT_US:73744004|UMLS:C0312420 owl:Class HP:0031421 biolink:NamedThing Small superior frontal cortex Reduced size of the superior frontal portion of the cerebral cortex. hp0009lx5z 2017-09-16 11:11:18+00:00 peter owl:Class HP:0008208 biolink:NamedThing Parathyroid hyperplasia Hyperplasia of the parathyroid gland. hp0009lx5z Enlarged parathyroid glands An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of the parathyroid glands. SNOMEDCT_US:9092004|UMLS:C0271844 human_phenotype owl:Class HP:0003154 biolink:NamedThing Increased circulating ACTH level An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. hp0009lx5z High blood corticotropin levels|Increased plasma ACTH|Increased circulating ACTH level UMLS:C4021740 human_phenotype owl:Class HP:0011802 biolink:NamedThing Hamartoma of tongue A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. hp0009lx5z Lingual hamartoma peter 2012-04-24T08:02:16Z SNOMEDCT_US:253753005|UMLS:C0431565 human_phenotype owl:Class HP:0007408 biolink:NamedThing Tegumentary leishmaniasis susceptibility Increased susceptibility to infection by the protozan parasite of the genus Leishmania. hp0009lx5z UMLS:C2748501 human_phenotype owl:Class HP:0032569 biolink:NamedThing Temporal bossing Prominence (bulging) in the temple region, which is the part of the skull where the frontal, parietal, temporal, and sphenoid bones join on the side of the head. hp0009lx5z 2019-06-19 10:48:04+00:00 peter owl:Class HP:0041075 biolink:NamedThing Chronic partially decreased circulating IgG3 A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood. hp0009lx5z Chronic partially decreased IgG3 in blood owl:Class HP:0410188 biolink:NamedThing Decreased glucose-6-phosphate dehydrogenase level in red blood cells A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells. hp0009lx5z Decreased G6PD level in RBCs|Decreased G6PD level in red blood cells 2018-05-21 18:03:36+00:00 owl:Class HP:0011942 biolink:NamedThing Increased urinary sulfite Increased concentration of SO3(2-), i.e., sulfite, in the urine. hp0009lx5z peter 2012-06-11T07:36:01Z UMLS:C1848957 human_phenotype owl:Class HP:0001038 biolink:NamedThing Warfarin-induced skin necrosis hp0009lx5z UMLS:C1867638 human_phenotype owl:Class HP:0025196 biolink:NamedThing Increased total iron binding capacity An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. hp0009lx5z 2016-12-05 02:10:17+00:00 Iron is transported to body tissues by a protein, transferrin, in plasma. This protein has two high-affinity binding sites for iron. Determination of total iron-binding capacity (TIBC) of the plasma therefore gives a measure of transferrin, although it can also be directly determined. Virtually all plasma iron (P1) normally is bound to transferrin, and measurement of P1 is assumed to reflect the amount of transferrin iron. The expression transferrin saturation, expressed as percent [(P1/TIBC) x 100], indicates the availability of iron to tissues. As transferrin saturation increases, there is an increase in the amount of diferric transferrin, which has a greater capacity to deliver iron than does monoferric transferrin. Measurements of P1, TIBC, and transferrin saturation have served several purposes in clinical medicine. The P1 concentration and (particularly) transferrin saturation relect the adequacy of iron supply. A saturation of less than 16% indicates a deficient iron supply, whereas a saturation of over 60% as measured on more than one occasion represents excessive iron loading owing to increased iron absorption or liver disease. An increased transferrmn concentration as reflected in the TIBC indicates iron depletion if the effects of estrogen and pregnancyare excluded. Other characteristic changes inboth P1 and TIBC are useful in the differential diagnosis of various diseases, for example, the decrease in transferrin saturations associated with a decreased transferrin concentration in inflammatory states. HPO:probinson owl:Class HP:0033569 biolink:NamedThing Extreme axis deviation A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right. hp0009lx5z 2021-01-24 13:43:17+00:00 peter owl:Class HP:0000970 biolink:NamedThing Anhidrosis Inability to sweat. hp0009lx5z Sudomotor dysfunction|Lack of sweating|Sweating dysfunction|Anhydrosis UMLS:C0003028|MSH:D007007|SNOMEDCT_US:39659002|SNOMEDCT_US:14662005|MEDDRA:10002512 human_phenotype owl:Class HP:0002110 biolink:NamedThing Bronchiectasis Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. hp0009lx5z Permanent enlargement of the airways of the lungs UMLS:C0006267|MSH:D001987|SNOMEDCT_US:12295008 human_phenotype owl:Class HP:0030909 biolink:NamedThing Anti-liver cytosolic antigen type 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. hp0009lx5z Anti-liver cytosol antibody-1 positivity These autoantibodies may be observed in a subset of persons with autoimmune hepatitis. owl:Class HP:0030969 biolink:NamedThing Abnormal pulmonary vein physiology An abnormality of the function of the pulmonary veins. hp0009lx5z 2017-04-18 13:38:42+00:00 robinp owl:Class HP:0031686 biolink:NamedThing Increased stool alpha1-antitrypsin concentration An abnormally elevated amount of alpha1-antitrypsin in the feces. hp0009lx5z 2017-12-17 21:09:20+00:00 Alpha-1-antitrypsin is resistant to degradation by digestive enzymes and can therefore be used as a marker for the presence of blood proteins in the intestinal tract (e.g., protein-losing enteropathy). peter owl:Class HP:0012411 biolink:NamedThing Premature pubarche The onset of growth of pubic hair at an earlier age than normal. hp0009lx5z Premature pubic hair growth peter 2013-11-10T11:50:16Z UMLS:C0342541|SNOMEDCT_US:237815000 human_phenotype owl:Class HP:0020078 biolink:NamedThing Alaninuria An increased level of alanine in the urine. hp0009lx5z Increased urinary alanine 2019-02-25 13:31:43+00:00 robinp owl:Class HP:0002871 biolink:NamedThing Central apnea Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. hp0009lx5z Central apnoea MSH:D020182|UMLS:C0520680 human_phenotype owl:Class HP:3000057 biolink:NamedThing Abnormality of inferior oblique extraocular muscle An abnormality of an inferior oblique extraocular muscle. hp0009lx5z Abnormality of the inferior oblique muscle vasilevs 2015-08-07T03:18:39Z UMLS:C4073265 human_phenotype owl:Class HP:0008158 biolink:NamedThing Hyperapobetalipoproteinemia Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. hp0009lx5z UMLS:C0020474|SNOMEDCT_US:299465007|SNOMEDCT_US:238040008|MSH:D006950 human_phenotype owl:Class HP:0003883 biolink:NamedThing Tapered humerus hp0009lx5z Tapered long bone of upper arm UMLS:C4025531 human_phenotype owl:Class HP:0030755 biolink:NamedThing Craniofacial teratoma A teratoma located in the craniofacial region. hp0009lx5z NCIT:C3403|UMLS:C4280784 owl:Class HP:0032643 biolink:NamedThing Renal interstitial non-necrotizing granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. hp0009lx5z Renal interstitial non-necrotizing granulomata peter owl:Class HP:0031519 biolink:NamedThing Cauliflower deformity of dermal collagen fibrils An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy. hp0009lx5z 2017-09-22 02:32:20+00:00 peter owl:Class HP:0032665 biolink:NamedThing Repeated focal motor seizures A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus. hp0009lx5z Jacksonian status epilepticus peter owl:Class HP:0500213 biolink:NamedThing Decreased CSF threonine concentration Abnormally decreased levels of threonine in cerebrospinal fluid. hp0009lx5z Low threonine levels in the cerebrospinal fluid 2019-02-25 19:10:14+00:00 owl:Class HP:0011576 biolink:NamedThing Intermediate atrioventricular canal defect A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices. hp0009lx5z Intermediate atrioventricular septal defect peter 2012-04-08T10:56:04Z Fyler:1121|UMLS:C4023291 human_phenotype owl:Class HP:0033039 biolink:NamedThing Increased circulating precipitin level The presence of high titers of antigen-precipitating IgG in the serum. hp0009lx5z Increased level of antigen-precipitating IgG antibodies Sensitization to inhaled antigens may cause high titers of antigen-precipitating IgGs. Precipitins support the diagnosis of hypersensitivity pneumonitis, also known as extrinsic allergic, in symptomatic individuals. They may also be found in asymptomatic individuals, indicating exposure to a certain antigen. Major antigens causing hypersensitivity pneumonitis are mushrooms, fungi, yeasts, bird proteins, certains chemicals, bacteria or mycobacteria. peter owl:Class HP:0031017 biolink:NamedThing Swiss cheese atrial septal defect Multiple defects in the atrial septum. hp0009lx5z 2017-05-20 11:43:29+00:00 The label derives from the resemblance of the multiple atrial defects to Emmental cheese, a medium-hard cheese of Swiss origin that features characteristic holes. peter owl:Class HP:0032228 biolink:NamedThing Trichodiscoma A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion. hp0009lx5z 2019-01-26 14:38:09+00:00 In contrast to trichodiscoma, fibrofolliculoma shows a keratin-plugged and often distorted hair follicle in the center of the lesion. A mantle of mucoid or fibrous stroma surrounds this central follicle; thin epithelial strands emerge from the central follicle and may form a netlike pattern. peter owl:Class HP:0007854 biolink:NamedThing Glaucomatous visual field defect hp0009lx5z UMLS:C1299694|SNOMEDCT_US:370961005 human_phenotype owl:Class HP:0033834 biolink:NamedThing Malaise A feeling of general discomfort, weakness, or lack of health. hp0009lx5z 2021-05-16 15:40:30+00:00 peter owl:Class HP:0030651 biolink:NamedThing Multifocal hp0009lx5z SNOMEDCT_US:524008|UMLS:C0205292 owl:Class HP:0004540 biolink:NamedThing Congenital, generalized hypertrichosis A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. hp0009lx5z Congenital generalised hypertrichosis|Congenital generalized hypertrichosis|Congenital, generalised hypertrichosis|Hypertrichosis universalis Hypertrichosis refers to excessive, abnormal hairiness. HP:0004769|HP:0004547 MSH:C538388|UMLS:C1855900 human_phenotype owl:Class HP:0001040 biolink:NamedThing Multiple pterygia hp0009lx5z UMLS:C1867448 human_phenotype owl:Class HP:0031334 biolink:NamedThing Cardiomyocyte inclusion bodies Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes. hp0009lx5z 2017-08-27 13:18:12+00:00 peter owl:Class HP:0012267 biolink:NamedThing Absent respiratory ciliary axoneme radial spokes Absence of the radial spokes of the axoneme of the respiratory cilium. hp0009lx5z peter 2013-04-07T01:56:53Z UMLS:C4022981 human_phenotype owl:Class HP:0020120 biolink:NamedThing Retinal nerve fiber edema Swelling (edema) of the retinal nerve fibers. hp0009lx5z Retinal nerve fibre oedema robinp 2019-07-02 16:39:25+00:00 owl:Class HP:0033160 biolink:NamedThing Decreased urinary guanosine level Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. hp0009lx5z 2020-09-24 09:11:27+00:00 peter owl:Class HP:0031204 biolink:NamedThing Bacterial cell casts A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. hp0009lx5z 2017-06-27 11:12:00+00:00 peter owl:Class HP:0000126 biolink:NamedThing Hydronephrosis Severe distention of the kidney with dilation of the renal pelvis and calices. hp0009lx5z Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. UMLS:C0020295|MSH:D006869|SNOMEDCT_US:43064006|Fyler:4502 human_phenotype owl:Class HP:0033448 biolink:NamedThing Increased mid-arm muscle circumference Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. hp0009lx5z 2021-01-09 20:30:47+00:00 peter owl:Class HP:0100607 biolink:NamedThing Dysmenorrhea Pain during menstruation that interferes with daily activities. hp0009lx5z Painful menstruation doelkens 2010-12-27T06:13:30Z SNOMEDCT_US:431416001|SNOMEDCT_US:266599000|SNOMEDCT_US:289900009|MSH:D004412|UMLS:C0013390 human_phenotype owl:Class HP:0011502 biolink:NamedThing Posterior lenticonus A conical projection of the posterior surface of the lens, occurring as a developmental anomaly. hp0009lx5z peter 2012-04-04T07:55:12Z UMLS:C0344263|SNOMEDCT_US:95482000 human_phenotype owl:Class HP:0032622 biolink:NamedThing Tubular luminal dilatation Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. hp0009lx5z By definition, ,tubular luminal dilatation excludes simplifcation, which is defined as a tubular cross-section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush borderinvolving over 50 percent of the tubular cells in cross-section, resulting in an apparent increase in the size of lumen, without presence of casts. peter owl:Class HP:0005612 biolink:NamedThing Arthrogryposis-like hand anomaly hp0009lx5z UMLS:C4025173 human_phenotype owl:Class HP:0006904 biolink:NamedThing Late-onset spinocerebellar degeneration hp0009lx5z UMLS:C1856604 human_phenotype owl:Class HP:0020158 biolink:NamedThing Increased circulating adrenic acid concentration An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation. hp0009lx5z Increased circulating docosatetraenoate level robinp 2019-07-06 19:34:06+00:00 owl:Class HP:3000060 biolink:NamedThing Abnormality of infraorbital artery An abnormality of an infraorbital artery. hp0009lx5z vasilevs 2015-08-07T03:18:53Z UMLS:C4073268 human_phenotype owl:Class HP:0003609 biolink:NamedThing Foam cells with lamellar inclusion bodies The presence of foam cells that contain lamellar inclusion bodies. hp0009lx5z Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy. UMLS:C4025590 human_phenotype owl:Class HP:0410225 biolink:NamedThing Increased anti-drug IgE antibody level Increased level of IgE antibody against a drug or class of drugs, such as antibiotics. hp0009lx5z Increased level of anti-drug IgE antibody 2018-10-03 18:09:35+00:00 owl:Class HP:0011682 biolink:NamedThing Perimembranous ventricular septal defect A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. hp0009lx5z Paramembranous ventricular septal defect|Perimembraneous ventricular septal defect|Type 2 ventricular septal defect|Membranous ventricular septal defect|Conoventricular ventricular septal defect|Ventricular septal defect, perimembranous peter 2012-04-10T08:21:13Z SNOMEDCT_US:109428005|Fyler:1310|UMLS:C0344925 human_phenotype owl:Class HP:0000647 biolink:NamedThing Sclerocornea A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. hp0009lx5z Hardening of skin and connective tissue MSH:C565209|UMLS:C1853235 human_phenotype owl:Class HP:0030457 biolink:NamedThing Abnormal amplitude of pattern onset/offset visual evoked potentials hp0009lx5z Abnormal amplitude of pattern onset/offset VEP UMLS:C4072948 owl:Class HP:0010838 biolink:NamedThing High nonceruloplasmin-bound serum copper An increased concentration of non ceruloplasmin bound copper in the blood. hp0009lx5z peter 2010-07-10T07:43:39Z UMLS:C1848459 human_phenotype owl:Class HP:0025387 biolink:NamedThing Pill-rolling tremor A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other. hp0009lx5z Pill rolling 2017-04-21 12:11:32+00:00 The name pill rolling derives from the movements that pharmacists made in earlier times when making pills by rolling them together. HPO:probinson owl:Class HP:0003731 biolink:NamedThing Quadriceps muscle weakness Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). hp0009lx5z Quadriceps weakness SNOMEDCT_US:300948004|UMLS:C0577655 human_phenotype owl:Class HP:0004132 biolink:NamedThing Dimple on nasal tip An abnormal indentation of the skin in the region of the nasal tip. hp0009lx5z Dimpled tip of nose|Dimple on nasal tip peter 2009-01-21T05:05:55Z UMLS:C1863349 human_phenotype owl:Class HP:0033658 biolink:NamedThing Rounded atelectasis Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung. hp0009lx5z Pleural pseudotumor|Helical atelectasis|Blesovsky syndrome|Pleuroma|Comet tail sign|Folded lung syndrome 2021-02-24 13:51:58+00:00 See Figure 65 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0007268 biolink:NamedThing Aprosencephaly hp0009lx5z MSH:D000757|UMLS:C0431349|SNOMEDCT_US:277922001 human_phenotype owl:Class HP:0040013 biolink:NamedThing Decreased mitochondrial number hp0009lx5z HPO:skoehler UMLS:C4022493 owl:Class HP:0031532 biolink:NamedThing Focal sub-RPE deposits Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus. hp0009lx5z 2017-09-24 00:51:20+00:00 peter owl:Class HP:0011565 biolink:NamedThing Common atrium Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. hp0009lx5z Single atrium peter 2012-04-08T07:50:05Z SNOMEDCT_US:253276007|ICD-10:Q21.2|Fyler:1140|UMLS:C0392482 human_phenotype owl:Class HP:0100810 biolink:NamedThing Pointed helix hp0009lx5z Vulcan ear|Spock's ear|Elfin ear|Pointed ear|Spock ear doelkens 2011-06-09T01:51:46Z UMLS:C4020951 human_phenotype owl:Class HP:0033667 biolink:NamedThing Diminished mental health A reduction in the subjective feeling of mental well being. hp0009lx5z Reduced mental health|Mental impairment 2021-02-28 14:50:58+00:00 The WHO defines mental health as a state of well-being in which the individual realizes his or her own abilities, can cope with the normal stresses of life, can work productively and fruitfully, and is able to make a contribution to his or her community. Thus, mental health is not a state of absence of mental illness. Mental health has been defined on the basis of three components of mental health: emotional well-being, psychological well-being and social well-being. Alternatively, mental health can be defined as a dynamic state of internal equilibrium which enables individuals to use their abilities in harmony with universal values of society. Attempts to measure mental health in as objective a fashion as possible may involve questionnaires such as the 36-item Short Form (SF-36) health survey questionnaire. Impaired mental health is characterized by a reduction in the mental component score (MCS). peter owl:Class HP:4000025 biolink:NamedThing Anti-integrin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth. hp0009lx5z 2021-05-02 14:41:03+00:00 robinp owl:Class HP:0041065 biolink:NamedThing Chronic (near) absent circulating IgG2 A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured. hp0009lx5z Chronic (near) absent IgG2 in blood owl:Class HP:0033422 biolink:NamedThing Pulmonary artery adventitial fibrosis Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree. hp0009lx5z 2021-01-09 17:30:36+00:00 peter owl:Class HP:0410224 biolink:NamedThing Increased anti-bacteria IgE antibody level Increased level of IgE antibody against bacteria. hp0009lx5z Increased level of anti-bacteria IgE antibody 2018-10-03 16:52:57+00:00 owl:Class HP:0011796 biolink:NamedThing Perilobar nephroblastomatosis Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). hp0009lx5z peter 2012-04-22T07:50:25Z SNOMEDCT_US:405935000|UMLS:C1319017 human_phenotype owl:Class HP:0032013 biolink:NamedThing Hypermetric horizontal saccades Overshoot of horizontal (sideways) saccadic eye movements. hp0009lx5z 2018-07-22 16:28:02+00:00 peter owl:Class HP:0010922 biolink:NamedThing Membranous cataract A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. hp0009lx5z peter 2010-12-12T12:31:45Z MSH:D002386|UMLS:C0524524 human_phenotype owl:Class HP:0032412 biolink:NamedThing Anterior predominant subcortical band heterotopia Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes. hp0009lx5z Frontal subcortical band heterotopia|Subcortical band heterotopia anterior predominant 2019-02-24 21:22:36+00:00 peter owl:Class HP:0012629 biolink:NamedThing Phakodonesis Tremulousness (trembling) of the lens of the eye. hp0009lx5z Trembling eye lens|Phacodonesis Phacodonesis results from lesions of some or most of the zonular fibres are broken. peter 2014-01-17T11:03:09Z UMLS:C2939415|SNOMEDCT_US:116669003 human_phenotype owl:Class HP:0009595 biolink:NamedThing Occasional neurofibromas Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. hp0009lx5z peter 2009-01-28T11:12:19Z UMLS:C3810474 human_phenotype owl:Class HP:0500040 biolink:NamedThing Dermolipoma of the conjunctiva A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix. hp0009lx5z Conjunctival lipodermoid 2018-02-02 15:28:59+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0005984 biolink:NamedThing Elevated maternal serum alpha-fetoprotein An elevation of alpha-feto protein in the maternal serum. hp0009lx5z UMLS:C0740927 human_phenotype owl:Class HP:0003875 biolink:NamedThing Humeral lytic defects Destruction of an area of humerus bone due to a disease process, such as cancer. hp0009lx5z Lytic defects of the humerus Osteolytic defects can be observed by radiology studies such as an X-ray; however, the type of condition that is causing the lesion cannot be fully determined by the X-ray alone. UMLS:C4025536 human_phenotype owl:Class HP:0002886 biolink:NamedThing Vagal paraganglioma A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve. hp0009lx5z Vagal nerve tumors|Glomus vagale tumour|Vagal nerve tumours|Glomus vagale tumor|Glomus vagale paraganglioma SNOMEDCT_US:253030004|UMLS:C0474819 human_phenotype owl:Class HP:0006352 biolink:NamedThing Failure of eruption of permanent teeth Lack of tooth eruption of the secondary dentition. hp0009lx5z Unerupted permanent teeth|Unerupted adult dentition|Unerupted permanent dentition|Failure of eruption of adult teeth|Unerupted adult teeth HP:0006309 UMLS:C4280447|UMLS:C4025056 human_phenotype owl:Class HP:0500248 biolink:NamedThing Increased CSF alpha-aminobutyrate concentration Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid. hp0009lx5z High alpha-aminobutyrate levels in cerebrospinal fluid 2019-02-26 15:59:28+00:00 owl:Class HP:0500247 biolink:NamedThing Abnormal CSF alpha-aminobutyrate concentration Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid. hp0009lx5z Abnormal alpha-aminobutyrate levels in cerebrospinal fluid 2019-02-26 15:59:10+00:00 owl:Class HP:0030559 biolink:NamedThing Best corrected visual acuity 0.7 LogMAR hp0009lx5z UMLS:C4073032 owl:Class HP:0004487 biolink:NamedThing Acrobrachycephaly An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. hp0009lx5z SNOMEDCT_US:711039004|UMLS:C1863395 human_phenotype owl:Class HP:0033915 biolink:NamedThing Arcuate artery intimal mucoid edema Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. hp0009lx5z 2021-06-23 23:16:39+00:00 peter owl:Class HP:0011905 biolink:NamedThing Reduced hemoglobin A Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. hp0009lx5z Reduced HbA|Reduced haemoglobin A peter 2012-06-03T05:07:19Z UMLS:C4023138 human_phenotype owl:Class HP:0003086 biolink:NamedThing Acromesomelia Small hands and feet. hp0009lx5z UMLS:C1864365 human_phenotype owl:Class HP:0011350 biolink:NamedThing Mild receptive language delay A mild delay in the acquisition of the ability to understand the speech of others. hp0009lx5z peter 2012-03-01T10:52:40Z UMLS:C3532948|SNOMEDCT_US:89501000119108 owl:Class HP:0009793 biolink:NamedThing Presacral teratoma A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV). hp0009lx5z Altman type IV sacrococcygeal teratoma|Retrorectal teratoma Sacrococcygeal teratomas are thought to originate from multipotential cells in Henson's node, which migrates caudally to rest in the coccyx. peter 2009-02-03T05:23:57Z UMLS:C1867782 human_phenotype owl:Class HP:0032244 biolink:NamedThing Decreased serum thromboxane B2 A reduction in the concentration of thromboxane B2 in the blood circulation. hp0009lx5z 2019-01-27 12:14:04+00:00 peter owl:Class HP:0012811 biolink:NamedThing Wide nasal ridge Increased width of the nasal ridge. hp0009lx5z Increased width of nasal dorsum|Broad nasal dorsum|Broad dorsum of nose|Increased width of dorsum of nose|Wide nasal ridge|Broad nasal ridge|Wide dorsum of nose|Increased width of nasal ridge|Nasal ridge, wide|Wide nasal dorsum This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose. hecht 2014-05-25T10:38:03Z UMLS:C4020718 human_phenotype owl:Class HP:0033465 biolink:NamedThing Elevated circulating tetradecanolycarnitine concentration Elevated circulating tetradecanoyl concentration. hp0009lx5z 2021-01-09 22:34:59+00:00 peter owl:Class HP:0031764 biolink:NamedThing Fully accomodative esotropia Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction. hp0009lx5z 2018-01-21 14:47:50+00:00 peter owl:Class HP:0011612 biolink:NamedThing Interrupted aortic arch type A Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus. hp0009lx5z peter 2012-04-08T03:18:18Z SNOMEDCT_US:253681005|UMLS:C0345092 human_phenotype owl:Class HP:0033233 biolink:NamedThing Paramesangial deposits Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. hp0009lx5z 2020-10-31 12:54:34+00:00 May be obsereved with IgA nephropathy. peter owl:Class HP:0032602 biolink:NamedThing Prominent nucleoli of renal tubular epithelial cells Tubular epithelium with nucleoli clearly visible at 100-fold magnification. hp0009lx5z peter owl:Class HP:0020063 biolink:NamedThing Increased hemoglobin concentration An abnormal elevation above normal hemoglobin concentration in the circulation. hp0009lx5z Increased haemoglobin concentration|Increased Hb concentration 2018-09-28 23:53:24+00:00 robinp owl:Class HP:0012555 biolink:NamedThing Absent nail of hallux Absent nail of big toe. hp0009lx5z Absent big toe nail|Absent nail of big toe peter 2014-01-04T01:06:39Z UMLS:C4021081 human_phenotype owl:Class HP:0032053 biolink:NamedThing Focal cortical dysplasia type IIb A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells. hp0009lx5z 2018-09-16 11:12:48+00:00 Cortical lamination is frequently disrupted with the exception of Layer 1. The myelin content may also be altered in underlying subcortical white matter. Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter. Histopathologically similar lesions are observed in cortical tubers and other gross MCDs, i.e. hemimegalencephaly or schizencephaly. peter owl:Class HP:0011973 biolink:NamedThing Paroxysmal lethargy Repeated episodes of sudden-onset and transient lethargy. hp0009lx5z peter 2012-07-18T08:48:06Z UMLS:C1847507 human_phenotype owl:Class HP:0007587 biolink:NamedThing Numerous pigmented freckles hp0009lx5z Numerous pigmented freckles UMLS:C1968565 human_phenotype owl:Class HP:0030261 biolink:NamedThing Absent penis Lack of recognizable penile structures. hp0009lx5z Penis aplasia|Aplasia of the penis|Aphallia|Absent penis Absence of the penis is always accompanied by abnormal position of the meatus (usually in the perineum, sometimes in the rectum), may be accompanied by Cryptorchidism, and is often associated with non-genital anomalies, which all should be coded separately. Absent penis should be differentiated from a penis concealed within pre-pubic fat tissue. HP:0040316 SNOMEDCT_US:59981001|UMLS:C0555231|SNOMEDCT_US:204908001 owl:Class HP:0410276 biolink:NamedThing Supraumbilical raphe An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). hp0009lx5z Midline supraumbilical raphe 2018-10-30 18:16:55+00:00 owl:Class HP:0011940 biolink:NamedThing Anterior wedging of T12 An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front). hp0009lx5z Anterior wedging of the 12th thoracic vertebra|Wedge-shaped 12th thoracic vertebra peter 2012-06-10T06:07:54Z UMLS:C4021108 human_phenotype owl:Class HP:0033484 biolink:NamedThing Elevated circulating linoleylcarnitine concentration Increased concentration of linoleylcarnitine in the blood circulation. hp0009lx5z Elevated plasma linoleylcarnitine, C18:2 2021-01-10 12:30:41+00:00 peter owl:Class HP:0010829 biolink:NamedThing Impaired temperature sensation A reduced ability to discriminate between different temperatures. hp0009lx5z Loss of temperature sensation|Impaired temperature sensation|Abnormality of temperature sensation|Impaired thermal sensitivity Temperature sensation can be tested by touching the skin several seconds with a water flask filled to the desired temperature. Persons with normal temperature sensation should at least be able to identify as warm a flask that is 35-36 degrees C and identify as cool a flask at 28-32 degrees C. peter 2010-07-10T07:08:10Z HP:0006901|HP:0100772 UMLS:C4021222 owl:Class HP:0033640 biolink:NamedThing Acetabular erosions Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint. hp0009lx5z 2021-02-24 12:37:00+00:00 peter owl:Class HP:0009372 biolink:NamedThing Type A2 brachydactyly hp0009lx5z Short index fingers and second toes doelkens 2009-01-13T10:50:19Z UMLS:C1832702|MSH:C537089 human_phenotype owl:Class HP:0030429 biolink:NamedThing Juvenile nasopharyngeal angiofibroma A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity. hp0009lx5z SNOMEDCT_US:60392001|SNOMEDCT_US:716590006|UMLS:C1367536 owl:Class HP:0004048 biolink:NamedThing Narrow joint spaces of wrist hp0009lx5z UMLS:C4025417 human_phenotype owl:Class HP:0410146 biolink:NamedThing Increased biotinidase level An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. hp0009lx5z 2018-03-12 20:15:15+00:00 owl:Class HP:0030648 biolink:NamedThing Midperipheral hp0009lx5z Mid-peripheral UMLS:C4073111 owl:Class HP:0032384 biolink:NamedThing Uniparental isodisomy A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted. hp0009lx5z 2019-02-24 15:05:18+00:00 peter owl:Class HP:0031680 biolink:NamedThing Type II atherosclerotic lesion Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid. hp0009lx5z 2017-12-17 17:31:10+00:00 peter owl:Class HP:0033677 biolink:NamedThing Acute respiratory distress syndrome Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300. hp0009lx5z ARDS 2021-03-03 20:15:47+00:00 Acute respiratory distress syndrome (ARDS) is a life-threatening condition of seriously ill patients, characterized by poor oxygenation, pulmonary infiltrates, and acuity of onset. On a microscopic level, the disorder is associated with capillary endothelial injury and diffuse alveolar damage. Once ARDS develops, patients usually have varying degrees of pulmonary artery vasoconstriction and may subsequently develop pulmonary hypertension. ARDS carries a high mortality, and few effective therapeutic modalities exist to combat this condition. ARDS can be observed as a complication of many diseases including pulmonary infection or aspiration, sepsis, trauma, massive transfusion, drowning, drug overdose, fat embolism, inhalation of toxic fumes, and pancreatitis. peter owl:Class HP:0500132 biolink:NamedThing Hypovalinemia A decreased amount of valine in the blood. hp0009lx5z Low blood valine concentration 2018-10-01 14:47:05+00:00 owl:Class HP:0031844 biolink:NamedThing Euphoria A sense of intense joy or happiness that is beyond what would be expected under the given circumstances. hp0009lx5z 2018-05-05 15:29:11+00:00 peter owl:Class HP:0032607 biolink:NamedThing Renal tubular epithelial cell swelling Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. hp0009lx5z peter owl:Class HP:0012778 biolink:NamedThing Retinal astrocytic hamartoma A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte. hp0009lx5z Classically retinal astrocytic hamartomas appear as a cream-white, well-circumscribed, elevated lesions that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, "mulberry" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation. peter 2014-04-07T05:38:54Z UMLS:C4022725 human_phenotype owl:Class HP:0031878 biolink:NamedThing Acromicria Small hands and feet in proportion to the rest of the body. hp0009lx5z 2018-05-06 14:37:03+00:00 peter owl:Class HP:0031674 biolink:NamedThing Antidromic atrioventricular reentrant tachycardia A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction. hp0009lx5z Antidromic AVRT 2017-12-17 16:57:22+00:00 peter owl:Class HP:0032157 biolink:NamedThing Recurrent genital herpes Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks. hp0009lx5z 2018-12-02 15:33:20+00:00 peter owl:Class HP:0032337 biolink:NamedThing Monoclonal elevation of circulating IgE An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. hp0009lx5z 2019-02-18 14:15:47+00:00 peter owl:Class HP:0025644 biolink:NamedThing Fixation-off epileptiform discharges Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG). hp0009lx5z Fixation-off sensitivity HPO:probinson FOS occurs mainly in children who have non-acquired focal epilepsies with occipital epileptiform discharges and in people with generalized epilepsies with photosensitivity such as eyelid myoclonia with absences. It has been observed in people with epilepsies due to structural brain lesions and people without epilepsy who have posterior epileptiform discharges. owl:Class HP:0025131 biolink:NamedThing Finger swelling Enlargement of the soft tissues of one or more fingers. hp0009lx5z Swollen fingers|Swelling of fingers|Swollen finger 2016-11-15 12:08:31+00:00 HPO:probinson owl:Class HP:0410174 biolink:NamedThing Increased circulating troponin T concentration An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. hp0009lx5z Increased troponin T level in blood 2018-05-18 20:21:02+00:00 owl:Class HP:5000045 biolink:NamedThing Anti-MuSK antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against muscle-specific tyrosine kinase (MuSK). hp0009lx5z Anti-anti-muscle-specific tyrosine kinase antibody ORCID:0000-0002-3387-1836 owl:Class HP:0001950 biolink:NamedThing Respiratory alkalosis Alkalosis due to excess loss of carbon dioxide from the body. hp0009lx5z MSH:D000472|UMLS:C0002064|SNOMEDCT_US:111378004 human_phenotype owl:Class HP:0011509 biolink:NamedThing Macular hyperpigmentation Increased amount of pigmentation in the macula lutea. hp0009lx5z peter 2012-04-06T09:52:11Z UMLS:C0745109 human_phenotype owl:Class HP:0025063 biolink:NamedThing Scaphoid abdomen The anterior abdominal wall is sunken and presents a concave rather than a convex contour. hp0009lx5z 2016-09-26 09:54:43+00:00 Scaphoid abdomen can be observed in diseases such as congenital diaphragmatic hernia (since the abdominal contents can be in the thorax). HPO:probinson owl:Class HP:0100709 biolink:NamedThing Reduction of oligodendroglia hp0009lx5z doelkens 2011-04-03T02:39:50Z UMLS:C4021852 human_phenotype owl:Class HP:0410019 biolink:NamedThing Epigastric pain Pain that is localized to the region of the upper abdomen immediately below the ribs. hp0009lx5z Epigastrium pain owl:Class HP:0007462 biolink:NamedThing Bitot spots of the conjunctiva Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot. hp0009lx5z Bitot's spots Bitot spots can be a feature of vitamin A deficiency. UMLS:C0423178|SNOMEDCT_US:246871006|UMLS:C4024868 human_phenotype owl:Class HP:0002533 biolink:NamedThing Abnormal posturing Involuntary flexion or extension of the arms and legs. hp0009lx5z SNOMEDCT_US:43029002|UMLS:C0231471 human_phenotype owl:Class HP:0033818 biolink:NamedThing Reticular Applies to an abnormality whose distribution and appearance resembles a net or network-like structure. hp0009lx5z 2021-05-09 12:18:27+00:00 peter owl:Class HP:0010846 biolink:NamedThing EEG with persistent abnormal rhythmic activity hp0009lx5z EEG: persistent abnormal rhythmic activity peter 2010-07-10T08:18:01Z UMLS:C4021216 human_phenotype owl:Class HP:0008151 biolink:NamedThing Prolonged prothrombin time Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. hp0009lx5z Reduced prothrombin activity|Increased INR|Increased international normalised ratio|increased international normalised ratio|Increased international normalized ratio|Reduced factor II activity|Low factor II activity|Prolonged PT The prothrombin time (PT) and the activated partial thromboplastin time (APTT) are the most requested tests to investigate patients with congenital or acquired coagulopathies and drug monitoring. They are defined as the time (seconds) needed to clot platelet-poor plasma upon addition of coagulation triggers, such as tissue factor in complex with phospholipids and calcium chloride (in the PT), or negatively charged phospholipids-activators and calcium chloride (in the APTT). They can hence be considered as global coagulation tests sensitive to deficiencies of many coagulation factors. In brief, they are both sensitive to factor X, V, II and fibrinogen, whereas the PT is only sensitive to factor VII deficiency and the APTT is sensitive to pre-kallikrein, high molecular weight kininogen (HMWK), factor XII, XI, IX and VIII deficiencies. Normal plasma in the PT clots approximately within 10-12 s upon triggering coagulation, and the normal reference range is (usually) narrow. PT results have been reported as clotting time, percentage activity, PT-ratio (patient-to-normal clotting time) and as international normalized ratio (INR). The INR scale has been devised to harmonize results stemming from different thromboplastins from patients on treatment with vitamin K antagonists. Some recommend abandoning the approach of using percentage activity to assess PR. HP:0012201 SNOMEDCT_US:409674002|UMLS:C0151872 human_phenotype owl:Class HP:0032542 biolink:NamedThing Exacerbated by pregnancy Applied to a sign or symptom that is worsened by being pregnant. hp0009lx5z 2019-05-27 15:16:46+00:00 peter owl:Class HP:0032144 biolink:NamedThing Coffee ground vomitus Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit. hp0009lx5z Coffee grounds vomiting|Coffee grounds emesis 2018-11-22 15:39:44+00:00 peter owl:Class HP:0002927 biolink:NamedThing Histidinuria An increased concentration of histidine in the urine. hp0009lx5z Elevated histidine in urine|High urine histidine levels Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours. HP:0010905 MSH:C538321|SNOMEDCT_US:78311009|UMLS:C0268642 owl:Class HP:0002587 biolink:NamedThing Projectile vomiting Vomiting that ejects the gastric contents with great force. hp0009lx5z Projectile vomiting SNOMEDCT_US:8579004|UMLS:C0221151 human_phenotype owl:Class HP:0011528 biolink:NamedThing Solitary congenital hypertrophy of retinal pigment epithelium Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance. hp0009lx5z Single isolated congenital hypertrophy of retinal pigment epithelium|Single isolated CHRPE peter 2012-04-06T09:24:44Z UMLS:C4021145 human_phenotype owl:Class HP:0001301 biolink:NamedThing Chronic sensorineural polyneuropathy hp0009lx5z UMLS:C4025794 human_phenotype owl:Class HP:0030848 biolink:NamedThing Elevated jugular venous pressure Increased jugular venous pressure. hp0009lx5z SNOMEDCT_US:22447003|UMLS:C0520861 owl:Class HP:0010441 biolink:NamedThing Ectopic accessory finger-like appendage In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). hp0009lx5z doelkens 2009-07-29T01:34:47Z UMLS:C4023825 human_phenotype owl:Class HP:0025428 biolink:NamedThing Bronchospasm A spasm (sudden, involuntary constriction) of the bronchioles. hp0009lx5z 2017-04-23 12:52:53+00:00 HPO:probinson owl:Class HP:0008511 biolink:NamedThing Central posterior corneal opacity Reduced transparency of the central posterior portion of the corneal stroma. hp0009lx5z SNOMEDCT_US:246967007|UMLS:C0423260 human_phenotype owl:Class HP:0001902 biolink:NamedThing Giant platelets Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). hp0009lx5z This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly. UMLS:C0333864|SNOMEDCT_US:44687006 human_phenotype owl:Class HP:0030715 biolink:NamedThing Bronchial atresia A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. hp0009lx5z Congenital bronchial atresia UMLS:C0265776|SNOMEDCT_US:50513008 owl:Class HP:0010868 biolink:NamedThing Ocular dyssynergia A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field. hp0009lx5z peter 2010-08-18T01:20:05Z UMLS:C4023680 human_phenotype owl:Class HP:0032410 biolink:NamedThing Bilateral generalized polymicrogyria Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter. hp0009lx5z Bilateral generalised polymicrogyria|Diffuse polymicrogyria 2019-02-24 21:11:36+00:00 peter owl:Class HP:0100014 biolink:NamedThing Epiretinal membrane An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy. hp0009lx5z Macular pucker|Premacular fibrosis|Epiretinal membranes doelkens 2010-05-14T09:53:27Z SNOMEDCT_US:133853005|UMLS:C0339543|SNOMEDCT_US:367649002|MSH:D019773 human_phenotype owl:Class HP:0032273 biolink:NamedThing Increased circulating N-Acetylaspartic acid concentration An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation. hp0009lx5z Increased circulating NAA level|Increased circulating N-acetyl aspartic acid level|Increased circulating N-acetyl-L-aspartic acid level|Increased circulating N-acetylaspartate level|Increased circulating N-acetyl aspartate level 2019-01-27 21:06:29+00:00 peter owl:Class HP:0005537 biolink:NamedThing Decreased mean platelet volume Average platelet volume below the lower limit of the normal reference interval. hp0009lx5z Small platelet size|Small platelets|Small platelets size Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). HP:0001938 UMLS:C1096368|UMLS:C1833182 human_phenotype owl:Class HP:0005789 biolink:NamedThing Generalized osteosclerosis An abnormal increase of bone mineral density with generalized involvement of the skeleton. hp0009lx5z Diffuse, symmetrical osteosclerosis|Generalised osteosclerosis|Increased bone density in skeletal bones|Osteosclerosis, diffuse symmetrical HP:0005805 UMLS:C4280476|UMLS:C1843331 human_phenotype owl:Class HP:0033022 biolink:NamedThing Chronic decreased circulating IgE A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. hp0009lx5z Chronic decreased IgE in blood peter owl:Class HP:0011598 biolink:NamedThing Right aortic arch with retroesophageal left subclavian artery hp0009lx5z Right aortic arch with anomalous left subclavian artery|Right aortic arch with aberrant left subclavian artery peter 2012-04-08T02:27:16Z UMLS:C4021140 human_phenotype owl:Class HP:0030056 biolink:NamedThing Uncombable hair Hair that is disorderly, stands out from the scalp, and cannot be combed flat. hp0009lx5z Uncombable hair UMLS:C1860607 owl:Class HP:0030079 biolink:NamedThing Cervix cancer A tumor of the uterine cervix. hp0009lx5z UMLS:C4048328|SNOMEDCT_US:363354003|NCIT:C3262|MSH:D002583 owl:Class HP:0000350 biolink:NamedThing Small forehead The presence of a forehead that is abnormally small. hp0009lx5z Small forehead|Hypotrophic forehead|Decreased size of forehead|Hypoplasia of forehead|Decreased size of frontal region of face UMLS:C4280633|UMLS:C1845250|UMLS:C4280634 human_phenotype owl:Class HP:0100674 biolink:NamedThing Vaginal hematocele hp0009lx5z "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. doelkens 2010-12-30T01:36:39Z UMLS:C1456401 human_phenotype owl:Class HP:0031675 biolink:NamedThing Fascicular left ventricular tachycardia A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG). hp0009lx5z 2017-12-17 17:01:47+00:00 Fascicular left ventricular tachycardia occurs predominantly in young males (15-40 years old) without structural heart disease (idiopathic). peter owl:Class HP:0032626 biolink:NamedThing Intratubular vancomycin casts Intratubular casts composed of vancomycin aggregates and uromodulin. hp0009lx5z The casts appear as nonspecific proteinaceous casts within the tubular lumenss on light microscopy. Immunostaining can be used to confirm the presence of vancomycin. peter owl:Class HP:0025581 biolink:NamedThing Foveal hemorrhage Bleeding occurring within the fovea. hp0009lx5z Foveal haemorrhage 2018-01-13 19:21:30+00:00 HPO:probinson owl:Class HP:0032631 biolink:NamedThing Intratubular hemoglobin casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. hp0009lx5z Intratubular haemoglobin casts peter owl:Class HP:0031237 biolink:NamedThing Internally nucleated skeletal muscle fibers An abnormality in which the nuclei of sarcomeres take on an abnormally internal localization (or in which this feature is found in an increased proportion of muscle cells). hp0009lx5z Internally nucleated skeletal muscle fibres 2017-07-02 20:11:21+00:00 A normal muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. peter owl:Class HP:0011003 biolink:NamedThing High myopia A severe form of myopia with greater than -6.00 diopters. hp0009lx5z Severe near sightedness|Severely near sighted|Severely close sighted|Severe myopia (> -6.00 diopters)|Severe myopia sdoelken 2011-02-13T12:56:48Z HP:0000569 SNOMEDCT_US:34187009|UMLS:C0271183 human_phenotype owl:Class HP:0000993 biolink:NamedThing Molluscoid pseudotumors Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. hp0009lx5z Molluscoid pseudotumor UMLS:C1844597 human_phenotype owl:Class HP:0500234 biolink:NamedThing Decreased CSF alanine concentration Abnormally decreased levels of alanine in cerebrospinal fluid. hp0009lx5z Low alanine levels in cerebrospinal fluid 2019-02-25 20:55:37+00:00 owl:Class HP:0006906 biolink:NamedThing Congenital intracerebral calcification The presence of calcium deposition within brain structures that is present already at the time of birth. hp0009lx5z UMLS:C4024966 human_phenotype owl:Class HP:0003139 biolink:NamedThing Panhypogammaglobulinemia A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. hp0009lx5z Panypogammaglobulinemia UMLS:C1328587 human_phenotype owl:Class HP:0025449 biolink:NamedThing Apically displaced anterolateral papillary muscle Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view, hp0009lx5z Apically displaced papillary muscles 2017-04-30 11:02:45+00:00 HPO:probinson owl:Class HP:0033420 biolink:NamedThing Pulmonary arterial plexiform lesion Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels. hp0009lx5z 2021-01-09 17:27:11+00:00 peter owl:Class HP:0031890 biolink:NamedThing Increased urine urobilinogen An elevated concentration of urobilinogen in the urine. hp0009lx5z 2018-05-13 20:23:52+00:00 Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease. peter owl:Class HP:0033222 biolink:NamedThing Decreased CD4:CD8 ratio An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells. hp0009lx5z Inverted CD4/CD8 ratio|Inverted CD4:CD8 ratio 2020-10-29 11:10:37+00:00 A low or inverted CD4/CD8 ratio is an immune risk phenotype and is associated with altered immune function, immune senescence, and chronic inflammation in both HIV-infected and uninfected populations. peter owl:Class HP:0033648 biolink:NamedThing Pulmonary pseudocavity A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia. hp0009lx5z 2021-02-24 12:49:36+00:00 See Figure 57 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0005575 biolink:NamedThing Hemolytic-uremic syndrome A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. hp0009lx5z Hemolytic uremic syndrome SNOMEDCT_US:111407006|MSH:D006463|UMLS:C0019061 owl:Class HP:0030518 biolink:NamedThing Congruous homonymous hemianopia hp0009lx5z Congruous hemianopsia UMLS:C4072997 owl:Class HP:0006149 biolink:NamedThing Increased laxity of fingers hp0009lx5z UMLS:C1850855 human_phenotype owl:Class HP:0003762 biolink:NamedThing Uterus didelphys A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. hp0009lx5z Double uterus SNOMEDCT_US:15545001|UMLS:C0266393|SNOMEDCT_US:22504001|UMLS:C0152240 human_phenotype owl:Class HP:0031268 biolink:NamedThing Decreased CD69 upregulation upon TCR activation Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). hp0009lx5z 2017-08-12 19:50:21+00:00 peter owl:Class HP:0032375 biolink:NamedThing Duffy Fyb positivity Presence of the Duffy Fyb antigen. hp0009lx5z 2019-02-24 13:42:55+00:00 peter owl:Class HP:0001955 biolink:NamedThing Unexplained fevers Episodes of fever for which no infectious cause can be identified. hp0009lx5z Unexplained fevers UMLS:C1844662 owl:Class HP:0012175 biolink:NamedThing Resistance to activated protein C Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. hp0009lx5z Activated protein C resistance The protein C pathway is a major anticoagulant mechanism that down-regulates the prothrombin- and intrinsic factor X (FX)-activating complexes via inactivation of their respective cofactors, activated factors V (FVa) and VIII (FVIIIa). Cofactor inactivation occurs by limited proteolysis at certain amino acid positions in FVa and in FVIIIa. These reactions are catalyzed by the serine protease activated protein C (APC) and stimulated by the APC cofactor protein S. Functional defects of the protein C pathway determine a plasma phenotype known as APC resistance, which is a prevalent and important risk factor for venous thrombosis. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time (aPTT) assay. peter 2013-02-23T09:54:07Z MSH:D020016|UMLS:C0600433|SNOMEDCT_US:421527008 human_phenotype owl:Class HP:0005352 biolink:NamedThing Severe T-cell immunodeficiency A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. hp0009lx5z Severe T-cell immunodeficiency Several diseases are classified as severe T cell immunodeficiencies: severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia (Nezelof syndrome), combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome (WAS). UMLS:C4025208 human_phenotype owl:Class HP:0025105 biolink:NamedThing Nevus anemicus A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. hp0009lx5z Naevus anaemicus 2016-10-28 23:49:41+00:00 HPO:probinson owl:Class HP:0100423 biolink:NamedThing Partial duplication of the proximal phalanx of the 4th toe hp0009lx5z Partial duplication of the innermost bone of 4th toe UMLS:C4022103 human_phenotype owl:Class HP:0100796 biolink:NamedThing Orchitis Testicular inflammation. hp0009lx5z Inflammation of testicles doelkens 2011-06-08T04:18:06Z SNOMEDCT_US:274718005|MSH:D009920|UMLS:C0029191 human_phenotype owl:Class HP:0006584 biolink:NamedThing Small abnormally formed scapulae hp0009lx5z Small abnormally formed shoulder blade|Small abnormally formed scapula HP:0006629 UMLS:C1861226 human_phenotype owl:Class HP:0006859 biolink:NamedThing Posterior leukoencephalopathy hp0009lx5z UMLS:C4024975 human_phenotype owl:Class HP:0001579 biolink:NamedThing Primary hypercortisolism Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. hp0009lx5z ACTH-independent hypercortisolemia UMLS:C1968852|UMLS:C4025760 human_phenotype owl:Class HP:0006558 biolink:NamedThing Decreased mitochondrial complex III activity in liver tissue Decreased activity of complex III of the mitochondrion in the liver. hp0009lx5z Complex III, also known as ubiquinol-cytochrome c oxidoreductase or cytochrome bc1 complex, is a multisubunit integral membrane complex of the mitochondrial transport chain, which catalyzes electron transfer from ubiquinol to cytochrome c and couples this process to electrogenic translocation of protons across the mitochondrial inner membrane. Mitochondrial complex III is integrated in the inner mitochondrial membrane. UMLS:C4025022 human_phenotype owl:Class HP:0012174 biolink:NamedThing Glioblastoma multiforme A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. hp0009lx5z Glioblastoma peter 2013-02-23T09:47:02Z HP:0100843 SNOMEDCT_US:63634009|UMLS:C1621958|SNOMEDCT_US:393563007|MSH:D005909 human_phenotype owl:Class HP:0003164 biolink:NamedThing Hypothalamic gonadotropin-releasing hormone deficiency hp0009lx5z Hypothalamic GNRH deficiency UMLS:C4025644 human_phenotype owl:Class HP:0006342 biolink:NamedThing Peg-shaped maxillary lateral incisors A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter hp0009lx5z Conoid upper lateral incisors|Cone shaped upper lateral incisors|Conical maxillary lateral incisors|Peg laterals|Peg shaped upper lateral incisors|Pointed upper lateral incisors|Peg-shaped tooth A peg shape appearance of a tooth occurs in lateral incisors only. A peg-shaped tooth is a microdont tooth and may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately. UMLS:C4025060 owl:Class HP:0012172 biolink:NamedThing Stereotypical body rocking Habitual repetitive movement of the body. hp0009lx5z peter 2013-02-20T10:17:35Z UMLS:C4023013 human_phenotype owl:Class HP:0011010 biolink:NamedThing Chronic Slow, creeping onset, slow progress and long continuance of disease manifestations. hp0009lx5z Chronic According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more. peter 2011-02-20T10:25:55Z UMLS:C0205191|SNOMEDCT_US:90734009 owl:Class HP:0003656 biolink:NamedThing Decreased beta-glucocerebrosidase level Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose. hp0009lx5z Decreased lysosomal acid glucosylceramidase activity An enzyme that hydrolyzes beta-glucosides in cerebrosides. UMLS:C1842710 human_phenotype owl:Class HP:0030574 biolink:NamedThing Pinhole visual acuity 0.6 LogMAR hp0009lx5z UMLS:C4073047 owl:Class HP:0032617 biolink:NamedThing Renal interstitial hemorrhage A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. hp0009lx5z Renal interstitial haemorrhage peter owl:Class HP:0025515 biolink:NamedThing Delayed thelarche Later than normal development of the breasts. hp0009lx5z 2017-05-15 02:12:37+00:00 HPO:probinson owl:Class HP:0033284 biolink:NamedThing Diffusely thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. hp0009lx5z 2020-11-28 20:36:30+00:00 peter owl:Class HP:0004762 biolink:NamedThing Hypoplasia of right ventricle Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. hp0009lx5z Underdeveloped right heart chamber|Small right heart chamber|Heart right ventricle hypoplasia HP:0004951 Fyler:1821|UMLS:C4082954 human_phenotype owl:Class HP:0011058 biolink:NamedThing Generalized periodontitis A generalized form of periodontitis. hp0009lx5z Generalised gum disease|Generalized gum disease|Widespread gum disease|Generalized periodontal disease|Generalised periodontitis|Generalised periodontal disease peter 2011-03-10T12:23:22Z UMLS:C4023560|UMLS:C4280345 human_phenotype owl:Class HP:0020151 biolink:NamedThing Anti-dsDNA antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. hp0009lx5z Anti-DNA antibodies can be observed in persons with systemic lupus erythematosus (SLE), being a formal classification criterion. robinp 2019-07-05 20:03:40+00:00 owl:Class HP:0003010 biolink:NamedThing Prolonged bleeding time Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. hp0009lx5z Prolonged bleeding time|Increased bleeding time The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes. HP:0008337|HP:0008294 UMLS:C0151529 human_phenotype owl:Class HP:0004602 biolink:NamedThing Cervical C2/C3 vertebral fusion Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. hp0009lx5z Klippel-Feil anomaly|Klippel-Feil syndrome|Fusion of cervical vertebrae c2-3 HP:0004636 SNOMEDCT_US:5601008|UMLS:C0022738|MSH:D007714|SNOMEDCT_US:388981000 owl:Class HP:0030011 biolink:NamedThing Imperforate hymen A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. hp0009lx5z Imperformate hymen is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It can be treated by surgical incision of the hymen. UMLS:C0152436|MSH:C562397|SNOMEDCT_US:65937002 owl:Class HP:0100419 biolink:NamedThing Partial duplication of the middle phalanx of the 3rd toe Partial duplication of middle phalanx of third toe. hp0009lx5z Partial duplication of the middle phalanx of the third toe|Partial duplication of the middle bone of 3rd toe UMLS:C4020980 human_phenotype owl:Class HP:0012474 biolink:NamedThing Carotid artery occlusion Complete obstruction of a carotid artery. hp0009lx5z Obstructed carotid artery Carotid artery occlusion is usually caused by caused by atherosclerosis. peter 2013-11-27T10:11:40Z SNOMEDCT_US:69798007|UMLS:C0265101|SNOMEDCT_US:266254007 human_phenotype owl:Class HP:0100792 biolink:NamedThing Acantholysis The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. hp0009lx5z Nikolsky's sign Acantolysis results in a positive Nikolsky's sign in which slight rubbing of the skin results in exfoliation of the outermost layer. doelkens 2011-06-08T03:22:24Z SNOMEDCT_US:441837004|UMLS:C0241128|SNOMEDCT_US:43327007|MSH:D000051|UMLS:C0000887 owl:Class HP:0020106 biolink:NamedThing Severe giardiasis An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide. hp0009lx5z 2019-04-08 19:25:29+00:00 Several reports of giardiasis in immunocompromised patients exist. robinp owl:Class HP:0030993 biolink:NamedThing Duplication of pancreatic duct A congenital anomaly characterized by the presence of two separate pancreatic ducts. hp0009lx5z Duplicated pancreatic duct 2017-05-13 13:55:22+00:00 peter owl:Class HP:0005532 biolink:NamedThing Macrocytic dyserythropoietic anemia hp0009lx5z Macrocytic dyserythropoietic anaemia UMLS:C4025183 human_phenotype owl:Class HP:0011657 biolink:NamedThing Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. hp0009lx5z DORV with subpulmonary VSD and pulmonary stenosis peter 2012-04-09T10:07:16Z UMLS:C4023242 human_phenotype owl:Class HP:0030921 biolink:NamedThing 5-minute APGAR score of 1 hp0009lx5z 2016-11-07 18:14:24+00:00 robinp owl:Class HP:3000023 biolink:NamedThing Abnormality of angular artery An abnormality of the angular artery, the terminal branch of the facial artery. hp0009lx5z vasilevs 2015-08-07T00:15:58Z UMLS:C4073232 human_phenotype owl:Class HP:0410300 biolink:NamedThing Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:03:29+00:00 owl:Class HP:0030716 biolink:NamedThing Acrania Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. hp0009lx5z UMLS:C0702169|SNOMEDCT_US:203923004|MSH:D009436 owl:Class HP:0012656 biolink:NamedThing Reduced CSF dopamine level Decreased concentration of dopamine in the cerebrospinal fluid (CSF). hp0009lx5z peter 2014-02-15T10:37:27Z UMLS:C4022800 human_phenotype owl:Class HP:0020102 biolink:NamedThing Pneumocystis jirovecii pneumonia An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. hp0009lx5z 2019-04-08 19:15:19+00:00 Pneumocystis, initially considered to be a protozoan, later has been assigned to the kingdom of fungi. robinp owl:Class HP:0025636 biolink:NamedThing Endometritis Inflammation of the inner lining of the uterus (endometrium). hp0009lx5z Endometrial inflammation|Inflammation of the inner lining of the uterus 2019-04-26 17:48:41+00:00 HPO:probinson owl:Class HP:0031716 biolink:NamedThing Cyclic exotropia A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle. hp0009lx5z 2018-01-13 13:31:56+00:00 peter owl:Class HP:0006157 biolink:NamedThing Prominent palmar flexion creases hp0009lx5z Prominent life line UMLS:C1865131|UMLS:C4280464 human_phenotype owl:Class HP:0033378 biolink:NamedThing Increased airway neuroepithelial bodies Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts. hp0009lx5z 2020-12-23 14:10:02+00:00 peter owl:Class HP:0011367 biolink:NamedThing Yellow nails Yellowish discoloration of the nails. hp0009lx5z Yellow nails peter 2012-03-03T12:08:12Z SNOMEDCT_US:45342007|UMLS:C1768507 human_phenotype owl:Class HP:0033601 biolink:NamedThing Glomerular subepithelial immune-complex deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). hp0009lx5z 2021-01-30 14:51:36+00:00 peter owl:Class HP:0002335 biolink:NamedThing Agenesis of cerebellar vermis Congenital absence of the vermis of cerebellum. hp0009lx5z Cerebellar vermis aplasia|Vermian agenesis HP:0007125 UMLS:C0431399|SNOMEDCT_US:253175003|MSH:C536293|SNOMEDCT_US:716997004 human_phenotype owl:Class HP:0410346 biolink:NamedThing Increased urinary galactosylated oligosaccharide An abnormal increase in the concentration of galactosylated oligosaccharides in urine. hp0009lx5z Increased concentration of galactosylated oligosaccharides in urine owl:Class HP:0031671 biolink:NamedThing Typical atrial flutter Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. hp0009lx5z 2017-12-17 16:44:25+00:00 peter owl:Class HP:0550005 biolink:NamedThing Bilateral basilar pulmonary fibrosis It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. hp0009lx5z Scleroderma of lung|Lung disease with systemic sclerosis|Scleroderma lung disease 2017-08-03 19:57:54+00:00 ORCID:0000-0002-6387-4317 owl:Class HP:0032371 biolink:NamedThing Isoleucinuria An increased concentration of isoleucine in the urine. hp0009lx5z Hyperisoleucinuria 2019-02-23 19:14:44+00:00 peter owl:Class HP:0032469 biolink:NamedThing Anti-asialoglycoprotein receptor antibody positivity Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation. hp0009lx5z 2019-04-09 10:39:31+00:00 Asialoglycoprotein receptor (ASGPR) is a C-type lectin, primary expressed on the sinusoidal surface of the hepatocyte. ASGPR autoantibodies is considered specific markers of autoimmune hepatitis. peter owl:Class HP:0008124 biolink:NamedThing Talipes calcaneovarus A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. hp0009lx5z MSH:D000070558|SNOMEDCT_US:30449003|UMLS:C0265646 owl:Class HP:0007110 biolink:NamedThing Central hypoventilation hp0009lx5z UMLS:C3805839 human_phenotype owl:Class HP:0011500 biolink:NamedThing Polycoria Multiple pupils. hp0009lx5z Multiple pupils peter 2012-04-04T07:19:56Z SNOMEDCT_US:204159004|UMLS:C0344544 human_phenotype owl:Class HP:0031659 biolink:NamedThing Fourth heart sound The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction. hp0009lx5z Presystolic gallop|S4|Atrial gallop 2017-12-17 16:03:22+00:00 S4 occurs in late diastole, is associated with atrial contraction, and coincides with the P wave on the EKG. peter owl:Class HP:0002825 biolink:NamedThing Caudal appendage The presence of a tail-like skin appendage located adjacent to the sacrum. hp0009lx5z Human tail|Coccygeal tail UMLS:C3277117 human_phenotype owl:Class HP:0033510 biolink:NamedThing Cutaneous horn A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin. hp0009lx5z Cornu cutaneum 2021-01-13 12:03:16+00:00 peter owl:Class HP:0031124 biolink:NamedThing Decreased platelet thromboxane A2 receptor Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2). hp0009lx5z 2017-06-10 12:30:08+00:00 peter owl:Class HP:0030647 biolink:NamedThing Paracentral hp0009lx5z UMLS:C4073110 owl:Class HP:0040287 biolink:NamedThing Axial muscle atrophy hp0009lx5z ORCID:0000-0002-5316-1399 owl:Class HP:5000016 biolink:NamedThing Anti-Hu antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu. hp0009lx5z Anti-Neuronal Nuclear Antibody type-1 antibody|Anti-ANNA-1 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0100432 biolink:NamedThing Broad distal phalanx of the 4th toe hp0009lx5z Wide outermost bone of the 4th toe|Broad outermost bone of the 4th toe UMLS:C4022095 human_phenotype owl:Class HP:0004857 biolink:NamedThing Hyperchromic macrocytic anemia A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. hp0009lx5z Hyperchromic macrocytic anaemia UMLS:C3854594 human_phenotype owl:Class HP:0040117 biolink:NamedThing Atresia of the Eustachian tube hp0009lx5z HPO:skoehler UMLS:C1388953 owl:Class HP:0005066 biolink:NamedThing Cone-shaped epiphyses fused within their metaphyses hp0009lx5z Cone-shaped end part of long bone fused within their wide portion of wide bone UMLS:C4025255 human_phenotype owl:Class HP:0006006 biolink:NamedThing Hypotrophy of the small hand muscles hp0009lx5z Degeneration of small hand muscles UMLS:C1843228 human_phenotype owl:Class HP:0410229 biolink:NamedThing Increased anti-gluten IgE antibody level Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye. hp0009lx5z Increased level of anti-gluten IgE antibody 2018-10-03 21:29:41+00:00 owl:Class HP:0002752 biolink:NamedThing Sparse bone trabeculae hp0009lx5z UMLS:C1833324 human_phenotype owl:Class HP:0030923 biolink:NamedThing 5-minute APGAR score of 3 hp0009lx5z 2016-11-07 18:14:36+00:00 robinp owl:Class HP:0003745 biolink:NamedThing Sporadic Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. hp0009lx5z Isolated cases|No previous family history HP:0003747|HP:0001420|HP:0003769 UMLS:C1853237 human_phenotype owl:Class HP:0010811 biolink:NamedThing Narrow uvula Decreased width of the uvula. hp0009lx5z Thin uvula|Narrow palatine uvula peter 2010-07-05T10:25:14Z UMLS:C4023696 owl:Class HP:0041070 biolink:NamedThing Chronic partially decreased circulating IgG1 A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood. hp0009lx5z Chronic partially decreased IgG1 in blood owl:Class HP:0033873 biolink:NamedThing Cortical peritubular capillary intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. hp0009lx5z Intraluminal thrombi within cortical peritubular capillaries 2021-06-23 19:23:11+00:00 peter owl:Class HP:0033471 biolink:NamedThing 10-minute APGAR score of 3 hp0009lx5z 2021-01-09 22:45:37+00:00 peter owl:Class HP:0008569 biolink:NamedThing Microtia, second degree Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. hp0009lx5z Severe cupped ear, type III|Shell ear|Constricted helix type IV|Mini ear|Ear, grade II dysplasia|Snail ear|Cockleshell ear UMLS:C4020796|UMLS:C4020694|UMLS:C4020795|UMLS:C4020797|UMLS:C4020792|UMLS:C4020793|UMLS:C4020794 human_phenotype owl:Class HP:0004388 biolink:NamedThing Microcolon A colon of abnormally small caliber. hp0009lx5z Microcolon on contrast enema peter 2008-03-18T09:02:00Z MSH:C562563|UMLS:C3553395|UMLS:C0266200|SNOMEDCT_US:18389004 human_phenotype owl:Class HP:0002439 biolink:NamedThing Frontolimbic dementia hp0009lx5z UMLS:C1836151 owl:Class HP:0033202 biolink:NamedThing Brachioradialis hyporeflexia Reduced intensity of the brachioradialis tendon reflex. hp0009lx5z 2020-10-11 14:26:08+00:00 The brachioradialis reflex is a deep tendon reflex involving the C5 and C6 nerve roots through its innervation by the radial nerve. To test brachioradialis reflex, the forearm is supported in a slightly pronated position. Then, the physician delivers a series of quick hits with the reflex hammer to the area of the styloid process of the radius at the point of brachioradialis insertion. peter owl:Class HP:0007621 biolink:NamedThing Telangiectasia of extensor surfaces hp0009lx5z UMLS:C4024827 human_phenotype owl:Class HP:0008076 biolink:NamedThing Osteoporotic tarsals Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. hp0009lx5z UMLS:C1836872 human_phenotype owl:Class HP:0012023 biolink:NamedThing Galactosuria Elevated concentration of galactose in the urine. hp0009lx5z Increased urinary galactose level peter 2012-07-26T10:31:35Z SNOMEDCT_US:71690006|UMLS:C0268157 human_phenotype owl:Class HP:0033862 biolink:NamedThing Cortical peritubular capillaritis Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. hp0009lx5z 2021-06-23 17:41:03+00:00 peter owl:Class HP:0032392 biolink:NamedThing Nodular subcortical heterotopia in peritrigonal regions Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei. hp0009lx5z 2019-02-24 16:05:23+00:00 peter owl:Class HP:0012423 biolink:NamedThing Colonic inertia The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days. hp0009lx5z peter 2013-11-11T08:04:46Z MSH:D003248|UMLS:C1257861 human_phenotype owl:Class HP:0011908 biolink:NamedThing Unilateral radial aplasia Missing radius bone on one side only associated with congenital failure of development. hp0009lx5z peter 2012-06-03T06:46:52Z UMLS:C4023135 human_phenotype owl:Class HP:0003153 biolink:NamedThing Cystathioninuria An elevated urinary concentration of cystathionine. hp0009lx5z High urine cystathionine levels Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine. SNOMEDCT_US:13003007|UMLS:C0220993 owl:Class HP:0030813 biolink:NamedThing Absent tonsils Lack of observable tonsillar tissue. hp0009lx5z Hypoplastic tonsils|Tonsillar hypoplasia SNOMEDCT_US:300277007|SNOMEDCT_US:249393008|UMLS:C0576999 owl:Class HP:0033010 biolink:NamedThing Increased fecal coproporphyrin 3 Abnormally high concentration of coproporphyrin 3 in feces hp0009lx5z Elevated stool coproporphyrin 3|High stool coproporphyrin 3|Elevated faecal coproporphyrin 3|High faecal coproporphyrin 3|High fecal coproporphyrin 3|Increased faecal coproporphyrin 3|Elevated fecal coproporphyrin 3 peter owl:Class HP:0003436 biolink:NamedThing Prolonged miniature endplate currents An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. hp0009lx5z Prolonged MEPP|Prolonged MEPC|Prolonged miniature endplate potentials HP:0003479 UMLS:C1864238 human_phenotype owl:Class HP:0032507 biolink:NamedThing Labiomental fasciculations Fasciculations affecting the tongue muscle and the musculature of the chin. hp0009lx5z Fasciculations, labiomental 2019-05-23 23:07:00+00:00 peter owl:Class HP:0010213 biolink:NamedThing Contracture of the tarsometatarsal joint of the hallux Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints. hp0009lx5z doelkens 2009-06-02T01:45:34Z UMLS:C4023968 human_phenotype owl:Class HP:0033869 biolink:NamedThing Medullary peritubular capillary lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. hp0009lx5z Cholesterol emboli within the medullary peritubular capillary lumen 2021-06-23 19:09:26+00:00 peter owl:Class HP:0032446 biolink:NamedThing Pulmonary bulla Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. hp0009lx5z Pulmonary bullae 2019-03-03 17:45:09+00:00 Blebs and bullae are commonly subpleural and are mostly seen in both upper lobes in patients with coexisting centrilobular and paraseptal emphysema. peter owl:Class HP:0020091 biolink:NamedThing Post-vaccination rotavirus infection Infection with live attenuated rotavirus vaccine following vaccination. hp0009lx5z 2019-04-08 17:42:33+00:00 robinp owl:Class HP:0030928 biolink:NamedThing 1-minute APGAR score of 1 hp0009lx5z 2016-11-07 18:16:15+00:00 robinp owl:Class HP:0003244 biolink:NamedThing Penile hypospadias Location of the urethral opening on the inferior aspect of the penis. hp0009lx5z UMLS:C1691215|SNOMEDCT_US:204888000 human_phenotype owl:Class HP:0410395 biolink:NamedThing Increased proportion of effector memory CD8-positive, alpha-beta T cells An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. hp0009lx5z owl:Class HP:0012768 biolink:NamedThing Neonatal asphyxia Respiratory failure in the newborn. hp0009lx5z Asphyxia neonatorum peter 2014-04-07T12:39:08Z SNOMEDCT_US:28314004|MSH:D001238|UMLS:C0004045|SNOMEDCT_US:413654009 human_phenotype owl:Class HP:0011433 biolink:NamedThing High maternal serum chorionic gonadotropin An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. hp0009lx5z High maternal serum hCG Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. peter 2012-03-17T07:47:39Z UMLS:C4021150 human_phenotype owl:Class HP:0007506 biolink:NamedThing Congenital absence of skin of limbs hp0009lx5z Missing skin on limbs since birth UMLS:C4024858 human_phenotype owl:Class HP:0006606 biolink:NamedThing Irregular chondrocostal junctions Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. hp0009lx5z Irregular costochondral margins The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. HP:0006658 UMLS:C1861199 human_phenotype owl:Class HP:0002040 biolink:NamedThing Esophageal varix Extreme dilation of the submucusoal veins in the lower portion of the esophagus. hp0009lx5z Enlarged vein in esophagus|Esophageal varices|Enlarged vein in oesophagus Esophageal varices are most often a consequence of portal hypertension. MSH:D004932|SNOMEDCT_US:28670008|MEDDRA:10056091|UMLS:C0014867 human_phenotype owl:Class HP:0025300 biolink:NamedThing Malar rash An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. hp0009lx5z Butterfly rash|Cheekbone rash 2016-12-20 11:59:38+00:00 This type of rash is seen in lupus erythematosus, but also in other diseases such as rosacea and seborrheic dermatitis. HPO:probinson owl:Class HP:0012608 biolink:NamedThing Hypermagnesiuria An increased concentration of magnesium the urine. hp0009lx5z peter 2014-01-17T11:38:51Z UMLS:C2673443 human_phenotype owl:Class HP:0025612 biolink:NamedThing Corneal astigmatism A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. hp0009lx5z 2018-01-13 23:06:10+00:00 HPO:probinson owl:Class HP:0033317 biolink:NamedThing Cellular crescent A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. hp0009lx5z 2020-11-29 13:31:42+00:00 peter owl:Class HP:0033387 biolink:NamedThing Elevated circulating pyridinoline concentration An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation. hp0009lx5z 2021-01-02 13:36:47+00:00 The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are established biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidised by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. Depending on whether or not these lysyl residues had been hydroxylated prior to crosslinking, lysyl-pyridinoline (LP) or hydroxylysyl-pyridinoline (HP) is generated. peter owl:Class HP:0033386 biolink:NamedThing Abnormal circulating collagen degradation product concentration Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. hp0009lx5z 2021-01-02 13:34:35+00:00 peter owl:Class HP:0006681 biolink:NamedThing Absent atrioventricular node hp0009lx5z UMLS:C4025006 human_phenotype owl:Class HP:0011604 biolink:NamedThing Aortopulmonary window A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt. hp0009lx5z peter 2012-04-08T02:52:38Z Fyler:0560|MSH:D001028|Fyler:560|UMLS:C0003516|SNOMEDCT_US:17024001 human_phenotype owl:Class HP:0020047 biolink:NamedThing Abnormal myeloid cell morphology Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. hp0009lx5z 2017-12-22 14:32:10+00:00 robinp owl:Class HP:0033736 biolink:NamedThing Grade II vesicoureteral reflux Vesicoureteral reflux into a non-dilated pyelocalyceal system. hp0009lx5z Grade II VUR|VUR II 2021-04-16 14:00:01+00:00 peter owl:Class HP:0001591 biolink:NamedThing Bell-shaped thorax The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. hp0009lx5z Constricted, bell-shaped thorax|Narrow, bell-shaped thorax|Bell-shaped chest A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities. HP:0006626|HP:0006664 UMLS:C1865186 human_phenotype owl:Class HP:0002331 biolink:NamedThing Recurrent paroxysmal headache Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. hp0009lx5z UMLS:C1854337 human_phenotype owl:Class HP:0008231 biolink:NamedThing Macronodular adrenal hyperplasia hp0009lx5z SNOMEDCT_US:237778003|UMLS:C0342495 human_phenotype owl:Class HP:0000176 biolink:NamedThing Submucous cleft hard palate Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. hp0009lx5z Partial thickness cleft hard palate|Submucosal cleft palate|Submucous clefting HP:0009091|HP:0000208|HP:0002746 SNOMEDCT_US:43437003|UMLS:C0432103|UMLS:C4020894 human_phenotype owl:Class HP:0032533 biolink:NamedThing Elevated circulating acetone concentration An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies. hp0009lx5z 2019-05-27 13:06:14+00:00 peter owl:Class HP:0031885 biolink:NamedThing Hyperglycorrhachia Abnormally high glucose concentration in the cerebrospinal fluid. hp0009lx5z Increased CSF glucose 2018-05-13 13:55:26+00:00 peter owl:Class HP:0033033 biolink:NamedThing Anti-MDA5 antibody positivity The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5). hp0009lx5z Increased level of anti-melanoma differentiation-associated protein 5 antibodies Anti-MDA5 antibodies are myositis-specific autoantibodies, that are specific for clinically amyopathic dermatomyositis (CADM), an uncommon presentation of idiopathic inflammatory myositis, which is associated with rapidly progressive interstitial lung disease. peter owl:Class HP:0000224 biolink:NamedThing Hypogeusia A decreased ability to perceive flavor. hp0009lx5z Decreased taste sensation|Decreased taste UMLS:C0151934|MSH:D000370|SNOMEDCT_US:697990000 owl:Class HP:0033415 biolink:NamedThing Cardiac tamponade The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling. hp0009lx5z 2021-01-09 16:39:14+00:00 The diagnosis of cardiac tamponade is a clinical diagnosis that requires prompt recognition and treatment to prevent cardiovascular collapse and cardiac arrest. peter owl:Class HP:0011701 biolink:NamedThing Multifocal atrial tachycardia Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. hp0009lx5z Chaotic atrial tachycardia|Ectopic atrial tachycardia peter 2012-04-10T11:20:13Z SNOMEDCT_US:49982000|UMLS:C0221158 human_phenotype owl:Class HP:0010958 biolink:NamedThing Bilateral renal agenesis A bilateral form of agenesis of the kidney. hp0009lx5z peter 2011-01-18T11:42:58Z UMLS:C1609433|MSH:C536482|SNOMEDCT_US:41962002 human_phenotype owl:Class HP:0410212 biolink:NamedThing Hyperoxemia in cord blood An abnormally high level of blood oxygen in the cord blood. hp0009lx5z High cord blood oxygen level 2018-09-12 00:44:20+00:00 owl:Class HP:0006381 biolink:NamedThing Rudimentary fibula Absent or nearly absent fibula. (Does not include aplastic) hp0009lx5z Rudimentary to absent fibulae|Small to absent fibula|Small to absent calf bone HP:0004986 UMLS:C1844706 human_phenotype owl:Class HP:0000023 biolink:NamedThing Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal. hp0009lx5z Inguinal hernia appears as a bulge in the groin. MEDDRA:10022016|UMLS:C0019294|SNOMEDCT_US:396232000|MSH:D006552 human_phenotype owl:Class HP:0003384 biolink:NamedThing Peripheral axonal atrophy Atrophic changes of axons of the peripheral nervous system. hp0009lx5z This finding is typically demonstrated by nerve biopsy. UMLS:C4025619 human_phenotype owl:Class HP:0003109 biolink:NamedThing Hyperphosphaturia An increased excretion of phosphates in the urine. hp0009lx5z Phosphaturia|High urine phosphate levels HP:0003266 SNOMEDCT_US:22450000|UMLS:C0268079|UMLS:C0948023 human_phenotype owl:Class HP:0010300 biolink:NamedThing Abnormally low-pitched voice An abnormally low-pitched voice. hp0009lx5z peter 2009-07-12T12:19:22Z UMLS:C4023915 human_phenotype owl:Class HP:0000550 biolink:NamedThing Undetectable electroretinogram Lack of any response to stimulation upon electroretinography. hp0009lx5z Abolished electroretinogram|Undetectable ERG|No light-evoked response on electroretinogram|Absent electroretinogram|Extinguished electroretinogram|Extinction of electroretinogram HP:0008042 UMLS:C1855685 human_phenotype owl:Class HP:0032056 biolink:NamedThing Focal cortical dysplasia type IIIb A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor. hp0009lx5z 2018-09-16 11:18:31+00:00 This type of focal cortical dysplasia is associated with glial or glioneuronal tumors (Ganglioglioma, Dysembryoplastic Neuroepithelial Tumor (DNT, syn. DNET) or other epilepsy-associated neoplasms. It is important to exclude tumor infiltration in areas of cortical abnormalities before establishing the diagnosis of FCD. The etiology and pathogenesis of FCD Type IIIb remains to be determined, but is likely an acquired process. peter owl:Class HP:0025282 biolink:NamedThing Dull Applied to pain that is dull, i.e., not severe but that continues over a long period of time. hp0009lx5z Dull pain 2016-12-18 15:23:43+00:00 HPO:probinson owl:Class HP:0010692 biolink:NamedThing 2-5 finger syndactyly Syndactyly with fusion of fingers two to five. hp0009lx5z Webbed index, middle and little finger|Webbed index, middle and pinkie finger|Webbed index, middle and pinky finger|Webbed 2nd-5th fingers doelkens 2010-03-05T06:41:50Z UMLS:C4023736 human_phenotype owl:Class HP:0030598 biolink:NamedThing Abnormal Humphrey SITA 10-2 perimetry test hp0009lx5z UMLS:C4073070 owl:Class HP:0025222 biolink:NamedThing Triggered by sleep deprivation Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep. hp0009lx5z Sleep deprivation triggered symptoms|Triggered by sleep deprivation 2016-12-10 14:07:29+00:00 HPO:probinson owl:Class HP:0030769 biolink:NamedThing Exencephaly A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium. hp0009lx5z UMLS:C0266453|SNOMEDCT_US:84461004|MSH:D009436 owl:Class HP:0040109 biolink:NamedThing Morphological abnormality of the utricle hp0009lx5z HPO:skoehler UMLS:C4022434 owl:Class HP:0031920 biolink:NamedThing Malignant ovarian granulosa cell tumor An aggressive granulosa cell tumor that arises from the ovary. hp0009lx5z Malignant ovarian granulosa cell tumour 2018-07-02 11:18:43+00:00 peter owl:Class HP:0100306 biolink:NamedThing Muscle fiber hyaline bodies hp0009lx5z Muscle fibre hyaline bodies doelkens 2010-08-10T02:49:13Z UMLS:C4022155 human_phenotype owl:Class HP:0011977 biolink:NamedThing Elevated urinary homovanillic acid An increased concentration of homovanillic acid in the urine. hp0009lx5z Increased urinary homovanillic acid Homovanillic acid is the main metabolite produced from dopamine degradation by the action of monoamine oxidase. Increased levels of catecho­lamines or catecholamine metabolites, including dopamine, homovanillic acid (HVA) and/or vanillylmandelic acid (VMA), can be detected in the urine of 90% of all patients with neuroblastoma. peter 2012-07-18T09:10:06Z UMLS:C4020736 owl:Class HP:0009379 biolink:NamedThing Rhomboid or triangular shaped 5th finger distal phalanx Rhomboid or triangular shaped 5th (little) finger distal phalanx. hp0009lx5z Rhomboid or triangular shaped little finger bone|Rhomboid or triangular shaped pinky finger bone|Rhomboid or triangular shaped pinkie finger bone doelkens 2009-01-13T01:01:44Z UMLS:C4024408 human_phenotype owl:Class HP:0008153 biolink:NamedThing Periodic hypokalemic paresis Episodes of muscle weakness associated with reduced levels of potassium in the blood. hp0009lx5z Hypokalemic periodic paresis UMLS:C4021553 human_phenotype owl:Class HP:0006735 biolink:NamedThing Renal cortical adenoma The presence of an adenoma in the cortex of the kidney. hp0009lx5z Kidney cortical adenoma NCIT:C2855|UMLS:C0346253|SNOMEDCT_US:254919009 human_phenotype owl:Class HP:0040254 biolink:NamedThing Decreased size of the clitoris hp0009lx5z UMLS:C4280694 owl:Class HP:0005297 biolink:NamedThing Premature occlusive vascular stenosis Peripheral arterial stenosis with onset before the age of 50 years. hp0009lx5z UMLS:C1867457 human_phenotype owl:Class HP:0007900 biolink:NamedThing Hypoplastic lacrimal duct hp0009lx5z Underdeveloped tear duct UMLS:C1968574 human_phenotype owl:Class HP:0009755 biolink:NamedThing Ankyloblepharon Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. hp0009lx5z Ankyloblepharon filiforme adnatum|Adhesion of eyelids|Eyelids stuck together|Eyelid synechiae A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos. peter 2009-01-31T08:52:59Z UMLS:C1302999|UMLS:C0339182|SNOMEDCT_US:193953008|SNOMEDCT_US:400952003|MSH:C536373 human_phenotype owl:Class HP:0033982 biolink:NamedThing Celiac artery dissection A separation (dissection) of the layers of the celiac artery wall. hp0009lx5z 2021-07-15 11:41:29+00:00 peter owl:Class HP:0003209 biolink:NamedThing Decreased pyruvate carboxylase activity A decreased rate of pyruvate carboxylase activity. hp0009lx5z Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle. UMLS:C4025641 human_phenotype owl:Class HP:0032299 biolink:NamedThing Increased circulating IgG2 level An abnormally increased concentration of the IgG2 subtype in the blood circulation. hp0009lx5z 2019-02-12 22:55:31+00:00 Immunoglobulin G-antibody responses to bacterial capsular polysaccharide antigens can be almost completely restricted to IgG2. peter owl:Class HP:0003279 biolink:NamedThing Coxa magna Widening of the femoral head and neck. hp0009lx5z Coxa magna can occur as a result of developmental dysplasia of the hip, Perthes disease, septic arthritis, Kniest dysplasia, among others. MSH:D000070603|SNOMEDCT_US:296041000119103|UMLS:C1860826 owl:Class HP:0030046 biolink:NamedThing Hypoglycosylation of alpha-dystroglycan A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue. hp0009lx5z Alpha-dystroglycan is a component of the Dystrophin Associated Protein complex (DAP) which binds to various ligands in the extracellular matrix of muscle and other tissues, including laminin-alpha2, perlecan, neurexin and agrin. Disruption of the interaction between alpha-dystroglycan and its ligands has severe consequences for muscle and brain function and structure. The pathological hallmark is reduced immunolabeling of skeletal muscle with antibodies recognizing glycosylated epitopes on alpha-dystroglycan. UMLS:C4015098 owl:Class HP:0410293 biolink:NamedThing Absent isohemagglutinin level Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). hp0009lx5z Absent natural antibody to blood group agents|Complete or near-complete absence of isohemagglutinins 2019-01-28 21:29:11+00:00 owl:Class HP:0031026 biolink:NamedThing Snail-like ilia The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. hp0009lx5z Schneckenbecken dysplasia|Snail-shaped ilia|Snail-like pelvis 2017-05-21 15:50:25+00:00 This feature was first observed in a condition that was termed Schneckenbecken dysplasia, Schneckenbecken is a German word that means snail-like pelvis. peter owl:Class HP:0033516 biolink:NamedThing Benzodiazepine addiction Addiction to a benzodiazepine. hp0009lx5z Benzodiazepine dependence 2021-01-13 12:30:50+00:00 peter owl:Class HP:0031040 biolink:NamedThing Late spermatogenesis maturation arrest A type of maturation arrest in which spermatids are detected without spermatozoa. hp0009lx5z Maturation arrest of spermatogenesis at spermatid stage 2017-05-27 11:51:00+00:00 peter owl:Class HP:0032018 biolink:NamedThing Multiple mononeuropathy A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially. hp0009lx5z Mononeuritis multiplex 2018-08-25 15:36:22+00:00 Mononeuritis multiplex can be a manifestation of several disorders including infectious, inflammatory, neoplastic, toxic, metabolic and hereditary conditions. peter owl:Class HP:0032514 biolink:NamedThing Duplicated lacrimal punctum A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face. hp0009lx5z Double lacrimal puncta|Lacrimal punctum, duplication 2019-05-23 23:34:54+00:00 peter owl:Class HP:0031694 biolink:NamedThing Severe adenovirus infection An unusually severe adenovirus infection. hp0009lx5z 2017-12-17 22:36:24+00:00 Adenoviruses can cause an array of clinical diseases, including conjunctivitis, gastroenteritis, hepatitis, myocarditis, and pneumonia. Most of these occur in children younger than the age of 5 years and are generally self-limiting illnesses. peter owl:Class HP:0011183 biolink:NamedThing EEG with hyperventilation-induced focal epileptiform discharges Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). hp0009lx5z hecht 2011-11-19T10:36:34Z UMLS:C4023490 human_phenotype owl:Class HP:0031337 biolink:NamedThing Abnormal cardiomyocyte connexin43 staining Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases. hp0009lx5z 2017-08-27 13:35:38+00:00 peter owl:Class HP:0025251 biolink:NamedThing Open comedo A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black. hp0009lx5z Blackhead 2016-12-17 14:04:52+00:00 HPO:probinson owl:Class HP:0410371 biolink:NamedThing Increased hepatitis C virus antibody level An abnormally increased level of immunoglobulin against hepatitis C virus in the blood. hp0009lx5z owl:Class HP:0002897 biolink:NamedThing Parathyroid adenoma A benign tumor of the parathyroid gland that can cause hyperparathyroidism. hp0009lx5z Parathyroid adenomas HP:0008257 NCIT:C2855|SNOMEDCT_US:128474007|MSH:D010282|UMLS:C0262587|ICD-10:D35.1 human_phenotype owl:Class HP:0001271 biolink:NamedThing Polyneuropathy A generalized disorder of peripheral nerves. hp0009lx5z Peripheral nerve disease HP:0007287|HP:0006941 SNOMEDCT_US:302226006|UMLS:C0031117|MSH:D011115|SNOMEDCT_US:42658009|SNOMEDCT_US:42345000|MSH:D010523|UMLS:C0152025 owl:Class HP:0000601 biolink:NamedThing Hypotelorism Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). hp0009lx5z Decreased orbital separation|Decreased distance between eyes|Abnormally close eyes|Decreased distance between eye sockets|Decreased interpupillary distance|Closely spaced eyes|Ocular hypotelorism HP:0007877 SNOMEDCT_US:44593008|UMLS:C0424711 human_phenotype owl:Class HP:0004821 biolink:NamedThing Hypersegmentation of neutrophil nuclei An excessive division of the lobes of the nucleus of a neutrophil. hp0009lx5z Hypersegmentation of neutrophil nuclei in peripheral blood|Hypermature neutrophils Neutrophils usually display 3-4 nuclear lobes. Hypersegmented neutrophile nuclei display 5 or more lobes. This feature can be seen in vitamin B12 or folate deficiency or with other etiologies. UMLS:C4025288 human_phenotype owl:Class HP:0100525 biolink:NamedThing Urachus fistula Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus. hp0009lx5z doelkens 2010-12-20T11:40:58Z SNOMEDCT_US:50986000|SNOMEDCT_US:398320008|UMLS:C0345344 human_phenotype owl:Class HP:0410017 biolink:NamedThing Otitis externa Inflammation or infection of the external auditory canal (EAC), the auricle, or both. hp0009lx5z Swimmer's ear owl:Class HP:0031688 biolink:NamedThing Erythroid dysplasia Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. hp0009lx5z 2017-12-17 22:04:44+00:00 peter owl:Class HP:0030951 biolink:NamedThing Skeletal muscle fibrosis Excessive formation of fibrous bands of scar tissue in between muscle fibers. hp0009lx5z 2017-01-13 22:27:25+00:00 Pathophysiologic fibrosis, which is essentially an excessive accumulation of extracellular matrix components, particularly collagen, is the end result of a cascade of events proceeding from tissue injury via inflammation, and resulting in permanent scar formation. Fibrosis can impair tissue function. In skeletal muscle, fibrosis is most often associated with the muscular dystrophies. robinp owl:Class HP:0032565 biolink:NamedThing Vaginal mucosal ulceration hp0009lx5z 2019-06-19 10:17:59+00:00 A breach of the continuity of the mucous membrane of the vagina caused by sloughing out of inflamed necrotic tissue, usually associated with eschars (slough or piece of dead tissue) and with violaceous to erythematous borders. peter owl:Class HP:0031832 biolink:NamedThing Hypermetric downward saccades Overshoot of downward saccadic eye movements. hp0009lx5z 2018-05-04 02:38:07+00:00 peter owl:Class HP:0100358 biolink:NamedThing Contracture of the metatarsophalangeal joint of the 4th toe The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively. hp0009lx5z UMLS:C4022127 human_phenotype owl:Class HP:0010705 biolink:NamedThing 4-5 finger syndactyly Syndactyly with fusion of fingers four and five. hp0009lx5z Webbed 4th-5th finger sdoelken 2010-03-26T05:12:44Z UMLS:C4023731 human_phenotype owl:Class HP:0030556 biolink:NamedThing Best corrected visual acuity 0.3 LogMAR hp0009lx5z UMLS:C4073029 owl:Class HP:0011984 biolink:NamedThing Atretic gallbladder Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia. hp0009lx5z Gallbladder atresia peter 2012-07-19T10:26:35Z UMLS:C3277945 human_phenotype owl:Class HP:0032360 biolink:NamedThing Decreased pre-bronchodilator forced expiratory flow 25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication. hp0009lx5z Decreased pre bronchodilator forced expiratory flow 25-75%|Decreased pre-bronchodilator FEF25-75%|Decreased prebronchodilator forced expiratory flow 25-75% 2019-02-23 17:15:58+00:00 peter owl:Class HP:0011656 biolink:NamedThing Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. hp0009lx5z DORV with subaortic VSD without pulmonary stenosis peter 2012-04-09T10:07:00Z UMLS:C4023243 human_phenotype owl:Class HP:0012707 biolink:NamedThing Elevated brain lactate level by MRS An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z Lactate (Lac) is absent in normal brain tissue and its presence is indicative of anerobic glycolysis at the cellular level. Elevated levels are associated with ischemic conditions or metabolic disorders (where anerobic glycolysis predominates) but is also noted at the edges of large brain tumours. The peak is very sensitive to the technique employed and unless the correct echo time is employed, it may be artifactually suppressed. The spectral peak lies at 1:33 ppm. The peak is often inverted or bifid. peter 2014-03-22T08:08:20Z UMLS:C4022762 human_phenotype owl:Class HP:0007457 biolink:NamedThing Prominent veins on trunk Prominent thoracic and abdominal veins. hp0009lx5z UMLS:C4024871 human_phenotype owl:Class HP:0011050 biolink:NamedThing Agenesis of permanent maxillary lateral incisor Agenesis of one or more upper lateral secondary incisor. hp0009lx5z Missing permanent upper lateral incisor|Absence of permanent maxillary lateral incisor|Failure of development of permanent maxillary lateral incisor|Missing permanent maxillary lateral incisor|Failure of development of permanent upper lateral incisor|Agenesis of permanent upper lateral incisor peter 2011-03-10T11:32:17Z UMLS:C4023567|UMLS:C4280352 human_phenotype owl:Class HP:0001454 biolink:NamedThing Abnormality of the upper arm hp0009lx5z peter 2008-04-07T10:41:00Z UMLS:C4025776 human_phenotype owl:Class HP:0010801 biolink:NamedThing Underdeveloped nasolabial fold Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure). hp0009lx5z Flat nasolabial fold|Nasolabial fold, hypoplastic|Nasolabial crease, hypoplastic|Nasolabial crease, underdeveloped|Shallow nasolabial fold peter 2010-06-26T02:10:51Z UMLS:C4021227 human_phenotype owl:Class HP:0005567 biolink:NamedThing Renal magnesium wasting High urine magnesium in the presence of hypomagnesemia. hp0009lx5z MSH:C537152|UMLS:C1835171 human_phenotype owl:Class HP:0007447 biolink:NamedThing Diffuse palmoplantar hyperkeratosis Diffuse abnormal thickening of the skin on the palms and soles. hp0009lx5z Hyperkeratosis, diffuse palmoplantar|Diffuse palmoplantar keratoderma The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. HP:0007435 MSH:D015776|UMLS:C4021575 owl:Class HP:0033546 biolink:NamedThing Mesangial microfibril deposition Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. hp0009lx5z 2021-01-21 13:38:19+00:00 peter owl:Class HP:0007606 biolink:NamedThing Multiple cutaneous malignancies hp0009lx5z UMLS:C4024834 human_phenotype owl:Class HP:0031280 biolink:NamedThing Increased LH response to gonadotropin-releasing hormone stimulation test An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test. hp0009lx5z 2017-08-13 16:52:32+00:00 peter owl:Class HP:0030380 biolink:NamedThing Decreased proportion of transitional B cells A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. hp0009lx5z Decreased proportion of CD19+CD38+IgM+ cells UMLS:C4072919 owl:Class HP:0031161 biolink:NamedThing Reduced brain glutamate level by MRS An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). hp0009lx5z 2017-06-18 17:37:40+00:00 peter owl:Class HP:0010664 biolink:NamedThing Fusion of the left and right thalami A developmental defect characterized by fusion of the left and right halves of the thalamus. hp0009lx5z Fusion of thamali|Fused thalami|Undivided thalami peter 2010-02-26T08:04:37Z UMLS:C1834930|UMLS:C4020769 human_phenotype owl:Class HP:0032475 biolink:NamedThing 6-layered lissencephaly hp0009lx5z 2019-04-09 12:02:50+00:00 A malformation of the pachygyria-agyria spectrum. A 6-layered cortex is characterized by bands of ectopic neurons of varying shape and size organized in columns or clusters, lying in a reduced rim of white matter. Layers I and II of the cortex are well defined, and pyramidal and polymorphic neurons of layers III, IV, V, and VI are found more or less in their appropriate location. peter owl:Class HP:0410213 biolink:NamedThing Hypoxemia in cord blood An abnormally low level of blood oxygen in the cord blood. hp0009lx5z Low cord blood oxygen level 2018-09-12 00:44:25+00:00 owl:Class HP:0030988 biolink:NamedThing Granulomatous cholangitis Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts. hp0009lx5z 2017-05-13 13:35:48+00:00 Granulomatous cholangitis involving the interlobular bile ducts constitutes the hallmark of primary biliary cholangitis and is also found in drug-induced liver disease and sarcoidosis. peter owl:Class HP:3000064 biolink:NamedThing Abnormality of intrinsic muscle of tongue An abnormality of an intrinsic muscle of tongue. hp0009lx5z Abnormality of intrinsic lingual muscle vasilevs 2015-08-07T03:19:10Z UMLS:C4073271 human_phenotype owl:Class HP:0010459 biolink:NamedThing True hermaphroditism The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism. hp0009lx5z Testicular and ovarian tissue present peter 2009-09-15T08:28:15Z HP:0003242 SNOMEDCT_US:18978002|MSH:D050090|UMLS:C0266361 human_phenotype owl:Class HP:0003361 biolink:NamedThing Tryptophanuria An increased concentration of tryptophan in the urine. hp0009lx5z High urine tryptophan levels Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours. SNOMEDCT_US:18789002|UMLS:C0268472 owl:Class HP:0011303 biolink:NamedThing Convex contour of sole The contour of the foot in lateral profile has a convex shape. hp0009lx5z This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Rocker-bottom foot. hecht 2012-02-12T11:06:12Z UMLS:C4023421 human_phenotype owl:Class HP:0010491 biolink:NamedThing Digital constriction ring A narrow segment of significantly reduced circumference of a digit. hp0009lx5z Amniotic constriction rings of digits The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit. peter 2009-09-16T11:08:16Z UMLS:C4021261 human_phenotype owl:Class HP:0011740 biolink:NamedThing Glucocortocoid-insensitive primary hyperaldosteronism A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids. hp0009lx5z Familial primary hyperaldosteronism type 2 peter 2012-04-21T09:29:51Z UMLS:C4023208|UMLS:C4020742 human_phenotype owl:Class HP:0030181 biolink:NamedThing Gordon reflex Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe). hp0009lx5z Gordon sign Gordon's reflex indicates a lesion of the pyramidal tract. UMLS:C4021048 owl:Class HP:0500152 biolink:NamedThing Hypocystinemia A decreased amount of cystine in the blood. hp0009lx5z Low blood cystine levels|Decreased blood cystine concentration 2018-10-04 14:59:36+00:00 owl:Class HP:0011781 biolink:NamedThing Thyroid C cell hyperplasia An abnormal growth of parafollicular (C-cells) cells. hp0009lx5z Thyroid C cell hyperplasia usually occurs before the development of familial forms of medullary thyroid cancer and is considered a pre-cancerous condition. peter 2012-04-22T06:05:57Z SNOMEDCT_US:237552009|UMLS:C0342190 human_phenotype owl:Class HP:0030106 biolink:NamedThing Absent muscle fiber beta sarcoglycan Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. hp0009lx5z Absent muscle fibre beta sarcoglycan UMLS:C4022639 owl:Class HP:0031841 biolink:NamedThing Positive urine methadone test Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine. hp0009lx5z 2018-05-05 14:18:14+00:00 Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency. peter owl:Class HP:0040015 biolink:NamedThing Increased activity of mitochondrial respiratory chain hp0009lx5z HPO:skoehler UMLS:C4022491 owl:Class HP:0031439 biolink:NamedThing Abnormal angiostatin level A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels. hp0009lx5z 2017-09-17 12:31:51+00:00 Angiostatin is an internal fragment of plasminogen that specifically inhibits endothelial cell proliferation and migration, and by promoting endothelial apoptosis. peter owl:Class HP:0032205 biolink:NamedThing Increased circulating galectin-3 level An increased circulation of galectin-3 in the blood circulation. hp0009lx5z 2019-01-20 15:21:52+00:00 Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling. peter owl:Class HP:0025272 biolink:NamedThing Melasma Symmetrical, blotchy, brownish facial pigmentation. hp0009lx5z Chloasma|Facial melanosis 2016-12-18 13:48:05+00:00 Melasma can be seen in individuals who have had substantial exposure to the sun, in pregnant women, with hormone treatments or as a side effect of certain medications, or with hypothyroidism, among other causes. HPO:probinson owl:Class HP:0010796 biolink:NamedThing Brainstem glioma A glioma affecting the brainstem. hp0009lx5z peter 2010-06-25T09:10:45Z SNOMEDCT_US:444545003|UMLS:C0677865 human_phenotype owl:Class HP:0025352 biolink:NamedThing Autosomal dominant germline de novo mutation Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation. hp0009lx5z 2017-02-13 00:19:00+00:00 HPO:probinson owl:Class HP:0011456 biolink:NamedThing Absent stapes Aplasia of the stapes. hp0009lx5z peter 2012-03-19T09:42:52Z UMLS:C0576909|SNOMEDCT_US:300178009 human_phenotype owl:Class HP:0030973 biolink:NamedThing Postexertional malaise A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise. hp0009lx5z Exercise-induced malaise|Postexertional fatigue|Exercise-induced fatigue 2017-04-18 14:35:09+00:00 The manifestations of postexertional malaise can include dead, heavy feeling after starting to exercise, next-day soreness or fatigue after non-strenuous, everday activities, being mentally tired after slight effort, and feeling physically drained or sick after mild activity. robinp owl:Class HP:0031872 biolink:NamedThing Absent Birbeck granules in Langerhans cells Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy. hp0009lx5z 2018-05-06 13:41:13+00:00 peter owl:Class HP:0033154 biolink:NamedThing Elevated circulating deoxypyridinoline concentration An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation. hp0009lx5z 2020-09-20 11:19:47+00:00 Pyridinoline cross-links contribute to the structural rigidity and integrity of collagen fibrils in bone. When bone resorption occurs, osteoclastic degradation of bone matrix releases pyridinoline and deoxypyridinoline into the circulation; these compounds are then excreted in urine. Measurements of urinary elimination of these compounds may provide useful information on the change of bone resorption. peter owl:Class HP:0006528 biolink:NamedThing Chronic lung disease According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. hp0009lx5z Chronic lung disease UMLS:C0746102|SNOMEDCT_US:413839001 human_phenotype owl:Class HP:0410289 biolink:NamedThing Hypoamylasemia Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. hp0009lx5z Decreased circulating amylase level 2019-01-28 20:07:56+00:00 owl:Class HP:0033979 biolink:NamedThing Excessive dynamic airway collapse Excessive anterior displacement of the tracheal and/ or bronchial membranous wall. hp0009lx5z Membranous tracheobronchomalacia 2021-07-15 11:33:37+00:00 peter owl:Class HP:0200071 biolink:NamedThing Peripheral vitreoretinal degeneration A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina. hp0009lx5z sebastiankohler 2013-05-31T01:49:02Z UMLS:C3280349 human_phenotype owl:Class HP:0000475 biolink:NamedThing Broad neck Increased side-to-side width of the neck. hp0009lx5z Wide neck|Increased width of neck|Broad neck|Thick neck UMLS:C1853638 human_phenotype owl:Class HP:0003676 biolink:NamedThing Progressive Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. hp0009lx5z Worsens with time|Progressive disorder UMLS:C1864985|SNOMEDCT_US:255314001|SNOMEDCT_US:252157006|UMLS:C0205329 owl:Class HP:0031282 biolink:NamedThing Malalignment of the great toenail A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges. hp0009lx5z 2017-08-13 17:08:48+00:00 See Figure 1 of PMID:27171597. peter owl:Class HP:0005307 biolink:NamedThing Postural hypotension with compensatory tachycardia hp0009lx5z UMLS:C1850438 human_phenotype owl:Class HP:0011608 biolink:NamedThing Type II truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus. hp0009lx5z Type 2 truncus arteriosus|Persistent truncus arteriosus type II According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. peter 2012-04-08T03:03:51Z UMLS:C4021137|Fyler:0520|Fyler:520 human_phenotype owl:Class HP:0000956 biolink:NamedThing Acanthosis nigricans A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. hp0009lx5z Keratosis nigricans|Darkened and thickened skin Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia. HP:0007518|HP:0007591|HP:0007498 SNOMEDCT_US:402599005|UMLS:C0000889|SNOMEDCT_US:72129000|MSH:D000052 human_phenotype owl:Class HP:0033083 biolink:NamedThing Increased circulating farnesol concentration An elevated level of farnesol in the blood circulation. hp0009lx5z Farnesol is a farnesane sesquiterpenoid that is dodeca-2,6,10-triene substituted by methyl groups at positions 3, 7 and 11 and a hydroxy group at position 1. Its concentration in the blood circulation is increased in inherited squalene synthase deficiency. peter owl:Class HP:0010828 biolink:NamedThing Hemifacial spasm Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions. hp0009lx5z Spasms on one side of the face|Hemifacial spasms Hemifacial spasm presents in the fifth or sixth decade of life, and is almost always unilateral. An attack usually begins with brief clonic movements of the orbicularis oculi and spreads over years to other facial muscles. Hemifacial spasm is often the result of chronic irritation of the facial nerve or nucleus. peter 2010-07-10T04:15:33Z UMLS:C0278152|MSH:D019569|SNOMEDCT_US:13753008 human_phenotype owl:Class HP:0003452 biolink:NamedThing Increased serum iron hp0009lx5z UMLS:C0151900|SNOMEDCT_US:165624002 human_phenotype owl:Class HP:0007946 biolink:NamedThing Unilateral narrow palpebral fissure A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. hp0009lx5z Narrow palpebral fissure, unilateral|Unequal size of opening between the eyelids UMLS:C1866805|UMLS:C4280419 human_phenotype owl:Class HP:0008338 biolink:NamedThing Partial functional complement factor D deficiency A partial reduction in level of the complement component Factor D in circulation. hp0009lx5z Partial functional adipsin deficiency|Partial functional factor d deficiency UMLS:C4024699 human_phenotype owl:Class HP:0033176 biolink:NamedThing Submandibular lymph node enlargement Increased size of the lymph nodes that are located beneath the mandible (lower jaw). hp0009lx5z Submandibular lymphadenopathy 2020-09-25 12:46:03+00:00 peter owl:Class HP:0033128 biolink:NamedThing Delayed ability to crawl A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months. hp0009lx5z 2020-09-05 13:40:32+00:00 peter owl:Class HP:0032983 biolink:NamedThing Atoll sign CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. hp0009lx5z Reversed halo sign peter owl:Class HP:0030159 biolink:NamedThing Cervical polyp Abnormal growth of tissue projecting from a mucous membrane of the endocervix. hp0009lx5z Cervical tumour|Cervical tumor SNOMEDCT_US:123841004|UMLS:C0007873|SNOMEDCT_US:65576009|MSH:D002583|UMLS:C0007855 owl:Class HP:0000151 biolink:NamedThing Aplasia of the uterus Aplasia of the uterus. hp0009lx5z Absent uterus|uterus absent UMLS:C0425913|SNOMEDCT_US:248942000 human_phenotype owl:Class HP:0002132 biolink:NamedThing Porencephalic cyst A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. hp0009lx5z Cavity within brain Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies. UMLS:C4082173|MSH:D065708 human_phenotype owl:Class HP:0030664 biolink:NamedThing Beevor's sign Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. hp0009lx5z Beevor's sign is said to be characteristic of a spinal cord lesion at the T10 level, but is also described inter alia in amyotrophic lateral sclerosis and in facioscapulohumeral muscular dystrophy. HPO:probinson SNOMEDCT_US:61282003|UMLS:C0231616 owl:Class HP:0500223 biolink:NamedThing Increased CSF phenylalanine concentration Abnormally increased levels of phenylalanine in cerebrospinal fluid. hp0009lx5z High phenylalanine levels in cerebrospinal fluid 2019-02-25 20:13:37+00:00 owl:Class HP:0033551 biolink:NamedThing Non-necrotizing pulmonary granulomatosis A granuloma located in the lung that is not associated with necrotic changes. hp0009lx5z Non-caseating pulmonary granulomatosis 2021-01-22 12:14:53+00:00 peter owl:Class HP:0033562 biolink:NamedThing Anti-glycoprotein-210 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210. hp0009lx5z Anti-gp210 antibody positivity 2021-01-23 12:35:51+00:00 Anti-glycoprotein-210 antibody is an antibody directed against components of the nuclear membrane and is found in primary biliary cirrhosis. peter owl:Class HP:0006415 biolink:NamedThing Cortically dense long tubular bones Increased density of the compact bone of long bone. hp0009lx5z Note that compact bone and cortical bone are synonymous. UMLS:C1849276 human_phenotype owl:Class HP:0005144 biolink:NamedThing Ventricular septal hypertrophy The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. hp0009lx5z Thickened interventricular septum UMLS:C1845019 human_phenotype owl:Class HP:0100839 biolink:NamedThing Hepatic agenesis Absence of the liver owing to a failure of the liver to develop. hp0009lx5z Failed liver development|Liver agenesis doelkens 2011-06-09T06:37:25Z UMLS:C0266258|SNOMEDCT_US:3650004 owl:Class HP:0025436 biolink:NamedThing Elevated serum 11-deoxycortisol Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. hp0009lx5z Elevated serum 21-hydroxyprogesterone|Elevated serum deoxycorticosterone 2017-04-23 17:22:34+00:00 HPO:probinson owl:Class HP:0033691 biolink:NamedThing Procedural memory loss A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument. hp0009lx5z Procedural memory deficit|Impaired procedural memory 2021-03-07 22:55:09+00:00 peter owl:Class HP:0006095 biolink:NamedThing Wide tufts of distal phalanges hp0009lx5z Wide tips of outermost digital bone UMLS:C1835101 human_phenotype owl:Class HP:0003158 biolink:NamedThing Hyposthenuria An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. hp0009lx5z Reduced urinary osmolality Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus. SNOMEDCT_US:76023003|UMLS:C0232831 owl:Class HP:0032015 biolink:NamedThing Dysmetric horizontal saccades Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction. hp0009lx5z 2018-07-22 16:33:04+00:00 peter owl:Class HP:0030634 biolink:NamedThing Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence hp0009lx5z UMLS:C4073104 owl:Class HP:0025508 biolink:NamedThing Gottron's papules Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. hp0009lx5z Gottron papules 2017-05-14 23:39:07+00:00 HPO:probinson owl:Class HP:0025490 biolink:NamedThing Myocardial bridging A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course. hp0009lx5z Intramyocardial coronary artery course 2017-05-14 19:08:29+00:00 Myocardial bridging, in which a tunneled segment of the artery under the bridge of overlying myocardium frequently results in vessel compression during systole. While frequently asymptomatic, this condition in many cases may be responsible for adverse complications including angina, myocardial ischemia, acute coronary syndromes, left ventricular dysfunction, arrhythmias, and even sudden cardiac death. HPO:probinson owl:Class HP:0006778 biolink:NamedThing Benign genitourinary tract neoplasm A non-malignant neoplasm of the genitourinary system. hp0009lx5z Benign genitourinary tract tumor|Benign genitourinary tract tumour|Benign GU tract neoplasm UMLS:C3804991 human_phenotype owl:Class HP:0031823 biolink:NamedThing Reduced hypoxanthine-guanine phosphoribosyltransferase level Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. hp0009lx5z Reduced 6-mercaptopurine phosphoribosyltransferase level|Reduced 6-hydroxypurine phosphoribosyltransferase level|Reduced GMP pyrophosphorylase level 2018-05-01 02:23:27+00:00 peter owl:Class HP:0005967 biolink:NamedThing Mixed respiratory and metabolic acidosis hp0009lx5z UMLS:C1840372 human_phenotype owl:Class HP:0012806 biolink:NamedThing Proboscis A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline. hp0009lx5z A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares. hecht 2014-05-25T05:46:42Z UMLS:C0687082 human_phenotype owl:Class HP:0033462 biolink:NamedThing Elevated circulating oleylcarnitine concentration Increased concentration of oleylcarnitine in the blood circulation. hp0009lx5z Elevated plasma oleylcarnitine, C18:1 2021-01-09 22:27:17+00:00 peter owl:Class HP:0008459 biolink:NamedThing Cervical vertebral agenesis Agenesis of one or more vertebrae of the cervical vertebral column. hp0009lx5z Missing cervical vertebrae|Cervical vertebrae agenesis MSH:C562952|UMLS:C0432160|SNOMEDCT_US:91880006 human_phenotype owl:Class HP:0033602 biolink:NamedThing Glomerular hyaline subepithelial deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). hp0009lx5z 2021-01-30 14:54:52+00:00 peter owl:Class HP:0000049 biolink:NamedThing Shawl scrotum Superior margin of the scrotum superior to the base of the penis. hp0009lx5z Scrotum surrounds penis|Overriding scrotum A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead. UMLS:C1858539 human_phenotype owl:Class HP:0004848 biolink:NamedThing Ph-positive acute lymphoblastic leukemia A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity. hp0009lx5z Philadelphia-positive acute lymphoblastic leukaemia|Ph-positive acute lymphoblastic leukaemia|Philadelphia-positive acute lymphoblastic leukemia UMLS:C1960397|SNOMEDCT_US:426955004|SNOMEDCT_US:425688002 human_phenotype owl:Class HP:0032111 biolink:NamedThing Abnormal Vistech contrast sensitivity test An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test. hp0009lx5z 2018-11-17 14:23:03+00:00 peter owl:Class HP:0007397 biolink:NamedThing Axillary apocrine gland hypoplasia Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. hp0009lx5z UMLS:C1867003 human_phenotype owl:Class HP:0000876 biolink:NamedThing Oligomenorrhea Infrequent menses (less than 6 per year or more than 35 days between cycles). hp0009lx5z Light or infrequent menstrual periods SNOMEDCT_US:52073004|MSH:D009839|UMLS:C0028949 human_phenotype owl:Class HP:0410059 biolink:NamedThing Increased level of D-threitol in urine An increase in the level of D-threitol in the urine. hp0009lx5z 2018-01-27 02:34:50+00:00 D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. ORCID:0000-0001-5208-3432 owl:Class HP:0012213 biolink:NamedThing Decreased glomerular filtration rate An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. hp0009lx5z Impaired renal creatinine clearance|Reduced creatinine clearance|Decreased GFR Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream. peter 2013-03-14T07:54:30Z HP:0000120 UMLS:C0853068 human_phenotype owl:Class HP:0005208 biolink:NamedThing Secretory diarrhea Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. hp0009lx5z Secretory diarrhoea UMLS:C0267557|SNOMEDCT_US:15699003 owl:Class HP:0012682 biolink:NamedThing Pineal gland calcification Accumulation of calcium salts in the pineal gland. hp0009lx5z This feature can be appreciated on skull radiography. peter 2014-03-22T12:51:57Z UMLS:C1398718 human_phenotype owl:Class HP:0005182 biolink:NamedThing Bicuspid pulmonary valve The presence of a bicuspid pulmonary valve. hp0009lx5z The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid. Fyler:1601|UMLS:C0344987|SNOMEDCT_US:253599005 human_phenotype owl:Class HP:0005982 biolink:NamedThing Reduced phenylalanine hydroxylase level A reduction in phenylalanine 4-monooxygenase level. hp0009lx5z Phenylalanine hydroxylase deficiency UMLS:C4025094|MSH:D010661|UMLS:C0751434|SNOMEDCT_US:7573000 human_phenotype owl:Class HP:0033040 biolink:NamedThing Anti-Sm-autoantibody positivity The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles. hp0009lx5z Anti-Smith autoantibody Anti-Sm-autoantibodies are highly specific for systemic lupus erythematosus (SLE). peter owl:Class HP:0009017 biolink:NamedThing Loss of gluteal subcutaneous adipose tissue Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. hp0009lx5z Loss of fat tissue below the skin in gluts UMLS:C4024606 human_phenotype owl:Class HP:0500150 biolink:NamedThing Hypoglutamatemia A decreased amount of glutamate in the blood. hp0009lx5z Decreased blood glutamate concentrations|Low blood glutamate levels 2018-10-04 14:29:47+00:00 Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. owl:Class HP:0010487 biolink:NamedThing Small hypothenar eminence Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. hp0009lx5z Hypoplasia of the hypothenar eminence|Hypothenar hypoplasia peter 2009-09-16T10:40:18Z HP:0005721 UMLS:C1861395 human_phenotype owl:Class HP:0004028 biolink:NamedThing Spurs of radial diaphysis hp0009lx5z UMLS:C4025433 human_phenotype owl:Class HP:0040208 biolink:NamedThing Elevated CSF biopterin level Increased concentration of biopterin in the cerebrospinal fluid (CSF). hp0009lx5z PhenoTips:CHum UMLS:C4073156 owl:Class HP:0031503 biolink:NamedThing Night gasping Waking up at night gasping for breath. hp0009lx5z 2017-09-18 01:14:49+00:00 peter owl:Class HP:0001489 biolink:NamedThing Posterior vitreous detachment Separation of the vitreous humor from the retina. hp0009lx5z Vitreous detachment The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. UMLS:C0423361|SNOMEDCT_US:247081001|MSH:D020255 human_phenotype owl:Class HP:0001655 biolink:NamedThing Patent foramen ovale Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. hp0009lx5z Persistent foramen ovale The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. SNOMEDCT_US:204317008|UMLS:C0016522|MSH:D054092|Fyler:2020|ICD-10:Q21.1 owl:Class HP:0011872 biolink:NamedThing Impaired thrombin-induced platelet aggregation Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). hp0009lx5z peter 2012-05-30T05:41:52Z UMLS:C4023153 human_phenotype owl:Class HP:0001601 biolink:NamedThing Laryngomalacia Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. hp0009lx5z Softening of voice box tissue Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor. UMLS:C0264303|SNOMEDCT_US:38086007|MSH:D055092 human_phenotype owl:Class HP:0032167 biolink:NamedThing Clostridium difficile enteritis An infection of the small intestine (enteritis) by clostridium difficile. hp0009lx5z C. difficile enteritis 2018-12-09 14:22:48+00:00 Clostridium difficile (C. difficile) is a common nosocomial infection caused by a gram-negative spore forming organism that most commonly leads to pseudomembranous colitis. Certain individuals are able to mount an effective immunoglobulin G response against C. difficile toxin A. This humoral immune response against the C. difficile toxin is believed to allow an individual to become an asymptomatic carrier. In contrast, people who fail to mount an immune response to C. difficile toxin are susceptible to infection. In general, patients on immunosuppressive therapy have a blunted ability to mount immune responses and, therefore, may be at greater risk for infection. peter owl:Class HP:0006449 biolink:NamedThing Distal radial epiphyseal osteolysis hp0009lx5z UMLS:C1850145 human_phenotype owl:Class HP:4000040 biolink:NamedThing Puerpural onset Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following. hp0009lx5z 2021-05-02 20:36:09+00:00 robinp owl:Class HP:0045057 biolink:NamedThing Decreased levels of alpha-fetoprotein A decrease in the concentration of alpha-fetoprotein in the blood circulation. hp0009lx5z UMLS:C4073295 owl:Class HP:0410215 biolink:NamedThing Hypocapnia in cord blood Abnormally decreased blood carbon dioxide (CO2) level in the cord blood. hp0009lx5z Low cord blood carbon dioxide level 2018-09-12 00:44:35+00:00 owl:Class HP:0045050 biolink:NamedThing Increased DLCO Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. hp0009lx5z Increased diffusing capacity Factors that can increase the DLCO include polycythaemia, asthma (can also have normal DLCO) and increased pulmonary blood volume as occurs in exercise. Other factors are left to right intracardiac shunting, and alveolar hemorrhage. UMLS:C4073174 owl:Class HP:0033871 biolink:NamedThing Medullary peritubular capillary lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. hp0009lx5z Organized thrombi within the medullary peritubular capillary lumen 2021-06-23 19:17:24+00:00 peter owl:Class HP:0002152 biolink:NamedThing Hyperproteinemia An increased concentration of proteins in the blood. hp0009lx5z SNOMEDCT_US:37064009|UMLS:C0267988 human_phenotype owl:Class HP:0500250 biolink:NamedThing Increased circulating ethanolamine concentration Abnormally increased levels of ethanolamine in circulation. hp0009lx5z High ethanolamine levels in the blood 2019-02-26 16:09:12+00:00 owl:Class HP:0002907 biolink:NamedThing Microscopic hematuria Microscopic hematuria detected by dipstick or microscopic examination of the urine. hp0009lx5z Small amount of blood in urine|Occult hematuria|Microhematuria SNOMEDCT_US:197940006|UMLS:C0239937 human_phenotype owl:Class HP:0100769 biolink:NamedThing Synovitis hp0009lx5z doelkens 2011-06-07T11:45:59Z MSH:D013585|SNOMEDCT_US:416209007|UMLS:C0039103 human_phenotype owl:Class HP:0012857 biolink:NamedThing Increased scrotal rugation Increased number or density of the folded ridges (wrinkles) of skin of the scrotum. hp0009lx5z hecht 2014-06-08T11:12:46Z UMLS:C4022706 human_phenotype owl:Class HP:0031146 biolink:NamedThing Impaired oral bolus formation An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. hp0009lx5z 2017-06-11 20:31:50+00:00 peter owl:Class HP:0004481 biolink:NamedThing Progressive macrocephaly The progressive development of an abnormally large skull. hp0009lx5z Macrocephaly, progressive|Progressively abnormally enlarging cranium|Progressively abnormally enlarging skull HP:0000261 UMLS:C1859896 human_phenotype owl:Class HP:0025011 biolink:NamedThing Pyriform aperture stenosis Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose. hp0009lx5z 2016-08-07 22:32:49+00:00 Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management [PMID:21423901]. HPO:probinson owl:Class HP:0032444 biolink:NamedThing Status post organ transplantation The affected individual has received an organ transplant previous to the current medical encounter. hp0009lx5z s/p organ transplantation 2019-03-03 16:49:25+00:00 peter owl:Class HP:0032310 biolink:NamedThing Granulocytosis An increased count of granulocytes in the peripheral blood circulation. hp0009lx5z 2019-02-14 10:57:40+00:00 peter owl:Class HP:0003912 biolink:NamedThing Frayed humeral metaphyses hp0009lx5z UMLS:C4025514 human_phenotype owl:Class HP:0032524 biolink:NamedThing Long thumb Length of the thumb is greater than normal. hp0009lx5z 2019-05-26 11:38:36+00:00 peter owl:Class HP:0002172 biolink:NamedThing Postural instability A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. hp0009lx5z Balance impairment|Abnormal retropulsion test|Imbalance UMLS:C1843921 owl:Class HP:0011082 biolink:NamedThing Conical primary incisor An abnormal conical morphology of the primary incisor. hp0009lx5z Peg shaped front baby tooth|Pointed front baby tooth|Conical deciduous incisor|Pointed primary incisor|Cone shaped front baby tooth|Primary front shark tooth|Peg shaped primary incisor|Conoid primary incisor peter 2011-03-11T11:06:57Z UMLS:C4023543 human_phenotype owl:Class HP:0005176 biolink:NamedThing Dysplastic aortic valve A congenital malformation of the aortic valve characterized by leaflet deformation. hp0009lx5z UMLS:C1866207 human_phenotype owl:Class HP:0003548 biolink:NamedThing Subsarcolemmal accumulations of abnormally shaped mitochondria An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. hp0009lx5z This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies. UMLS:C4025597 human_phenotype owl:Class HP:0012527 biolink:NamedThing Abnormal alpha granule content A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. hp0009lx5z The alpha granules contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. peter 2013-12-15T09:02:48Z UMLS:C4022863 human_phenotype owl:Class HP:0005627 biolink:NamedThing Type D brachydactyly This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. hp0009lx5z Brachydactyly type D UMLS:C0220664|MSH:C562420 human_phenotype owl:Class HP:0011891 biolink:NamedThing Post-partum hemorrhage Significant maternal haemorrhage/blood loss following deilvery of a child. hp0009lx5z Bleeding post-delivery|Post-partum haemorrhage peter 2012-06-02T11:35:46Z SNOMEDCT_US:47821001|UMLS:C0032797|MSH:D006473 human_phenotype owl:Class HP:0003803 biolink:NamedThing Type 1 muscle fiber predominance An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). hp0009lx5z Type I muscle fibre predominance|Type I muscle fiber predominance|Type 1 muscle fibre predominance This finding is demonstrated by muscle biopsy. HP:0003721|HP:0003807 UMLS:C1854387 owl:Class HP:0033092 biolink:NamedThing Increased urine succinate level An increase in the level of succinate in the urine. hp0009lx5z Succinate is a Krebs cycle metabolite that is able to modulate inflammatory responses. peter owl:Class HP:0012609 biolink:NamedThing Hypomagnesiuria An decreased concentration of magnesium the urine. hp0009lx5z Decreased urine magnesium|Low urine magnesium levels peter 2014-01-17T11:39:31Z UMLS:C3203528 human_phenotype owl:Class HP:0005517 biolink:NamedThing T-cell lymphoma/leukemia A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas. hp0009lx5z T-cell lymphoma/leukemia is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1). UMLS:C4025186 human_phenotype owl:Class HP:0003396 biolink:NamedThing Syringomyelia Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. hp0009lx5z Syrinx|Fluid-filled cyst in spinal cord HP:0006933 SNOMEDCT_US:111496009|UMLS:C0039144|MSH:D013595 human_phenotype owl:Class HP:0004802 biolink:NamedThing Episodic hemolytic anemia A form of hemolytic anemia that occurs in repeated episodes. hp0009lx5z Episodic hemolysis|Episodic hemolytic anaemia UMLS:C1859495 human_phenotype owl:Class HP:0025466 biolink:NamedThing Beta 2-microglobulinuria Increased level of beta 2-microglobulins in the urine. hp0009lx5z 2017-05-07 11:50:10+00:00 HPO:probinson owl:Class HP:0032606 biolink:NamedThing Renal tubular epithelial lipofuscin Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. hp0009lx5z peter owl:Class HP:0011997 biolink:NamedThing Postprandial hyperlactemia Abnormally increased level of blood lactate following a meal. hp0009lx5z peter 2012-07-19T12:06:39Z UMLS:C4023089 human_phenotype owl:Class HP:0041116 biolink:NamedThing Fractured left clavicle A partial or complete breakage of the left clavicle. hp0009lx5z bone left clavicle owl:Class HP:0025149 biolink:NamedThing Atrophic muscularis propria Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis. hp0009lx5z Degenerative enteric myopathy|Autonomic visceral myopathy 2016-12-03 14:04:10+00:00 HPO:probinson owl:Class HP:0030979 biolink:NamedThing Dilatation of large choroidal vessels Enlargement of the large blood vessels in the choroid. hp0009lx5z Dilated choroidal vessels 2017-05-10 23:59:11+00:00 Choroidal thickening can be a feature of central serous chorioretinopathy and results from focal or diffuse dilatation of large choroidal vessels, which are commonly localized within areas of increased choroidal vascular permeability on indocyanine green angiography. robinp owl:Class HP:0025110 biolink:NamedThing Placoid macular lesion Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula. hp0009lx5z 2016-11-01 01:20:32+00:00 HPO:probinson owl:Class HP:0000531 biolink:NamedThing Corneal crystals hp0009lx5z Corneal deposits UMLS:C1096610 human_phenotype owl:Class HP:0030120 biolink:NamedThing Absent muscle fiber calpain-3 Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue. hp0009lx5z Absent muscle fibre calpain-3 UMLS:C4022625 owl:Class HP:0001088 biolink:NamedThing Brushfield spots The presence of whitish spots in a ring-like arrangement at the periphery of the iris. hp0009lx5z Iris brushfield spots|Speckled iris Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome). SNOMEDCT_US:400960002|UMLS:C4280604|UMLS:C1303007 human_phenotype owl:Class HP:0005682 biolink:NamedThing Talocalcaneal synostosis hp0009lx5z Fusion of the subtalar joint|Fusion of foot joint UMLS:C4025155|UMLS:C4255214 human_phenotype owl:Class HP:0030927 biolink:NamedThing 1-minute APGAR score of 0 hp0009lx5z 2016-11-07 18:16:10+00:00 robinp owl:Class HP:0033236 biolink:NamedThing Cognitive fatigue A failure to sustain attention that requires self-motivation to optimize performance. hp0009lx5z Central fatigue 2020-10-31 13:20:08+00:00 Cognitive fatigue may be observed as decreased performance following prolonged effort over an extended period of time; decreased performance after a challenging mental exertion; decreased performance after a challenging physical exertion; and decreased performance during acute but sustained mental effort. peter owl:Class HP:0030324 biolink:NamedThing Bilateral vertebral artery hypoplasia Underdevelopment of the vertebral artery on both sides. hp0009lx5z UMLS:C4022511 owl:Class HP:0004886 biolink:NamedThing Congenital laryngeal stridor hp0009lx5z UMLS:C0265763|SNOMEDCT_US:55490007 human_phenotype owl:Class HP:0033168 biolink:NamedThing Reduced mevalonate kinase activity Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids. hp0009lx5z 2020-09-24 09:42:41+00:00 peter owl:Class HP:0010516 biolink:NamedThing Thymus hyperplasia Enlargement of the thymus. hp0009lx5z Enlarged thymus|Thymic hyperplasia peter 2009-09-19T04:23:10Z UMLS:C0040115|MSH:D013952 human_phenotype owl:Class HP:0032575 biolink:NamedThing Decreased circulating 12-HETE A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid. hp0009lx5z Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration peter owl:Class HP:0500153 biolink:NamedThing Hyperargininemia An increased amount of arginine levels in the blood. hp0009lx5z High blood arginine levels|Increased blood arginine concentration 2018-10-05 14:45:02+00:00 owl:Class HP:0002248 biolink:NamedThing Hematemesis The vomiting of blood. hp0009lx5z Vomitting blood The source of hematemesis is generally the upper gastrointestinal tract. UMLS:C0018926|SNOMEDCT_US:8765009|MSH:D006396 human_phenotype owl:Class HP:0008081 biolink:NamedThing Pes valgus An outward deviation of the foot at the talocalcaneal or subtalar joint. hp0009lx5z Valgus foot deformity Valgus refers to the twisting outward of a bone or joint is twisted outward from the center of the body, whereas varus is a twisting toward the center of the body. SNOMEDCT_US:275344002|SNOMEDCT_US:249803006|UMLS:C1578482 human_phenotype owl:Class HP:0006563 biolink:NamedThing Malformation of the hepatic ductal plate hp0009lx5z UMLS:C1857519 human_phenotype owl:Class HP:0004592 biolink:NamedThing Thoracic platyspondyly A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine. hp0009lx5z UMLS:C1862428 human_phenotype owl:Class HP:0006210 biolink:NamedThing Postaxial oligodactyly hp0009lx5z UMLS:C1867927 human_phenotype owl:Class HP:0008568 biolink:NamedThing Vestibular areflexia Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. hp0009lx5z Vestibular ataxia HP:0008526 UMLS:C4015052|UMLS:C0235927|SNOMEDCT_US:22443004 human_phenotype owl:Class HP:5000003 biolink:NamedThing Anti-ARHGAP26 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26). hp0009lx5z Anti-RhoGTPase-activating protein 26 antibody|Anti-Ca antibody ORCID:0000-0002-3387-1836 owl:Class HP:0003224 biolink:NamedThing Increased cellular sensitivity to UV light hp0009lx5z UMLS:C1857707 human_phenotype owl:Class HP:0025531 biolink:NamedThing Harlequin phenomenon The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. hp0009lx5z 2017-05-18 00:38:26+00:00 The Harlequin phenomenon (HF) is most common in the newborn and can be a generalized phenomenon or only involve a specific body area. The HF of the newborn is thought to be secondary to a relative hypothalamic control immaturity of the sympathetic peripheral vascular tonus, although it has also been described in other age groups, primarily located to the face and neck and mostly caused by a sympathetic disautonomy. While certainly peculiar, the HF is a benign event in the newborn. HPO:probinson owl:Class HP:0010292 biolink:NamedThing Absent uvula Lack of the uvula. hp0009lx5z Congenital absence of uvula|Missing uvula|Agenesis of uvula|Absent palatine uvula|Uvula aplasia Sometimes accompanies a Submucous cleft palate, but this should be coded separately. peter 2009-07-12T11:36:21Z UMLS:C0266121|SNOMEDCT_US:25148007 owl:Class HP:0025027 biolink:NamedThing Osteoma cutis The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin. hp0009lx5z Cutaneous osteosis|Osteomatosis|Miliary osteoma 2016-08-26 12:11:51+00:00 HPO:probinson owl:Class HP:0041067 biolink:NamedThing Transient decreased circulating IgG1 A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation. hp0009lx5z Transient decreased IgG1 in blood owl:Class HP:0010865 biolink:NamedThing Oppositional defiant disorder An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents. hp0009lx5z Oppositional defiant disorder is basically a persistent pattern of tantrums, arguing, and angry or disruptive behavior that goes beyond what can be considered normal. peter 2010-08-03T07:09:09Z UMLS:C0029121|MSH:D019958|SNOMEDCT_US:18941000 human_phenotype owl:Class HP:0007508 biolink:NamedThing Punctate palmar hyperkeratosis Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands. hp0009lx5z UMLS:C4024857 human_phenotype owl:Class HP:0025470 biolink:NamedThing Telogen effluvium A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles. hp0009lx5z 2017-05-14 11:23:33+00:00 HPO:probinson owl:Class HP:0033810 biolink:NamedThing Decreased circulating dihydrotestosterone concentration A reduced concentration of dihydrotestosterone in the blood circulation. hp0009lx5z 2021-05-09 11:44:13+00:00 peter owl:Class HP:0011769 biolink:NamedThing Ectopic parathyroid An abnormal anatomical location of the parathyroid gland. hp0009lx5z peter 2012-04-22T04:22:26Z UMLS:C4023196 human_phenotype owl:Class HP:0033802 biolink:NamedThing Intra-epidermal blistering A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. hp0009lx5z 2021-05-08 14:57:59+00:00 peter owl:Class HP:0033784 biolink:NamedThing Dentin dysplasia This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications. hp0009lx5z 2021-05-07 10:38:57+00:00 This term designates a genetic condition, and an Element of Morphology rending its utilization sometimes confusing. The condition is characterized by multiple dental anomalies that affect both deciduous and permanent dentitions. It can exist in isolation or be associated with other signs and symptoms of various syndromes. peter owl:Class HP:0030650 biolink:NamedThing Focal hp0009lx5z UMLS:C0205234|SNOMEDCT_US:87017008 owl:Class HP:0040241 biolink:NamedThing Increased RIPA Increased platelet agglutination in response to low-dose ristocetin hp0009lx5z Characteristic of type 2B von Willebrand Disease or platelet-type (pseudo) VWD. (NB: this is not the same as enhanced ristocetin coafactor assay activity) This term has been requested and created by members of the BRIDGE consortium UMLS:C4280706 owl:Class HP:0410198 biolink:NamedThing Decreased uridine diphosphate glucose-4-epimerase level in red blood cells A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. hp0009lx5z Decreased UDP-glucose 4-epimerase level in RBCs|Decreased UDP-glucose 4-epimerase level in red blood cells 2018-05-21 18:24:19+00:00 owl:Class HP:0100293 biolink:NamedThing Muscle fiber hypertrophy hp0009lx5z Muscle fibre hypertrophy doelkens 2010-08-10T01:57:00Z SNOMEDCT_US:42091004|UMLS:C0333759 human_phenotype owl:Class HP:0006460 biolink:NamedThing Increased laxity of ankles hp0009lx5z UMLS:C1850854 human_phenotype owl:Class HP:0008435 biolink:NamedThing Absent in utero ossification of vertebral bodies hp0009lx5z UMLS:C1842698 human_phenotype owl:Class HP:0032174 biolink:NamedThing Tree-in-bud pattern The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376). hp0009lx5z 2019-01-06 11:14:22+00:00 This pattern is most pronounced in the lung periphery and is usually associated with abnormalities of the larger airways. It is particularly common in diffuse panbronchiolitis, endobronchial spread of mycobacterial infection, and cystic fibrosis. A similar pattern is a rare manifestation of arteriolar (microangiopathic) disease. peter owl:Class HP:0032057 biolink:NamedThing Focal cortical dysplasia type IIIc A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis). hp0009lx5z 2018-09-16 11:23:39+00:00 peter owl:Class HP:0033746 biolink:NamedThing Intrascapular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades. hp0009lx5z Pain between shoulder blades 2021-04-19 22:53:57+00:00 peter owl:Class HP:0004905 biolink:NamedThing Low levels of vitamin A A reduced concentration of vitamin A. hp0009lx5z Vitamin A deficiency UMLS:C0042842|SNOMEDCT_US:72000004|MSH:D014802 human_phenotype owl:Class HP:0025475 biolink:NamedThing Erythematous macule A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation. hp0009lx5z 2017-05-14 12:43:04+00:00 Numerous tones of red ranging from pink to violaceous are subsumed under the category of erythematous. HPO:probinson owl:Class HP:0006731 biolink:NamedThing Follicular thyroid carcinoma The presence of an follicular adenocarcinoma of the thyroid gland. hp0009lx5z SNOMEDCT_US:5257006|UMLS:C0206682|SNOMEDCT_US:255028004|SNOMEDCT_US:28173006|MSH:D018263|NCIT:C8054 human_phenotype owl:Class HP:0009734 biolink:NamedThing Optic nerve glioma A glioma originating in the optic nerve or optic chiasm. hp0009lx5z Optic glioma peter 2009-01-31T11:17:13Z UMLS:C0346326|SNOMEDCT_US:404662003|SNOMEDCT_US:254976006|MSH:D020339 human_phenotype owl:Class HP:0011668 biolink:NamedThing Bilateral superior vena cava with no bridging vein hp0009lx5z peter 2012-04-09T12:01:33Z UMLS:C4023239 owl:Class HP:0011394 biolink:NamedThing Hypoplasia of the vestibular nerve Underdevelopment of the vestibular nerve. hp0009lx5z Hypoplasia of cranial nerve VIII|Hypoplasia of the eighth cranial nerve|Thin vestibular nerve hecht 2012-03-09T05:14:35Z UMLS:C4020750 human_phenotype owl:Class HP:0007589 biolink:NamedThing Aplasia cutis congenita on trunk or limbs A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. hp0009lx5z In future versions of the HPO this term will be made obsolete and will be replaced by terms for Aplasia cutis congenita on trunk and a term for Aplasia cutis congenita on the limbs. UMLS:C1863496 human_phenotype owl:Class HP:0032107 biolink:NamedThing Limbal stem cell deficiency A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. hp0009lx5z 2018-11-17 14:09:53+00:00 The corneal epithelium covers the corneal surface and plays a major role in protection and transparency. Epithelial cells are shed regularly and replaced by stem cell sources located at the limbus, a rim of tissue located at the junction of the cornea and sclera. The limbal epithelial stem cells reside in specific regions at the limbus known as the limbal stem cell niches. Damage to the stem cells or disruption of the niches may lead to Limbal Stem Cell Deficiency. In the absence of a healthy corneal epithelium, the conjunctiva proliferates over the cornea resulting in opacification and vascularization, which in turn may lead to reduced vision, pain, and photophobia. peter owl:Class HP:0010485 biolink:NamedThing Hyperextensibility at elbow The ability of the elbow joint to move beyond its normal range of motion. hp0009lx5z peter 2009-09-16T10:05:52Z UMLS:C4023808 human_phenotype owl:Class HP:0002571 biolink:NamedThing Achalasia A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. hp0009lx5z Achalasia of the oesophagus|Achalasia of the esophagus Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing. MEDDRA:10030136|SNOMEDCT_US:45564002|MSH:D004931|UMLS:C0014848 human_phenotype owl:Class HP:0001362 biolink:NamedThing Calvarial skull defect A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. hp0009lx5z Skull defect|Calvarial defect|Cranial defect UMLS:C4280595|UMLS:C4280596|UMLS:C4025787 human_phenotype owl:Class HP:0100962 biolink:NamedThing Shyness hp0009lx5z Shyness doelkens 2012-01-18T06:06:28Z UMLS:C0037020|MSH:D012792 human_phenotype owl:Class HP:0032955 biolink:NamedThing Renal tubular polyoma virus inclusions Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. hp0009lx5z The inclusions are generally accompanied by a patchy pleomorphic interstitial infiltrate with lymphocytes, plasma cells, and occasional neutrophils with associated interstitial edema, tubulitis, and tubular injury. Infected tubular epithelial cells have enlarged nuclei with amorphous inclusions. Polyomavirus infection occurs in the transplanted allograft kidney and in the native kidney of immunosuppressed patients, and is usually related to BK virus (80%), JC virus (10%-20%), and less frequently simian virus 40 (SV40). peter owl:Class HP:4000015 biolink:NamedThing Anti-envoplakin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions. hp0009lx5z 2021-05-02 14:23:11+00:00 robinp owl:Class HP:0025518 biolink:NamedThing Visual gaze preference An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion. hp0009lx5z 2017-05-17 01:15:33+00:00 With visual gaze preference due to an acute supranuclear cerebral lesion, the oculocephalic reflex (which can be elicited by the so called Doll's head manoeuvre) is intact. The head is briskly turned from side to side with the head held briefly at the end of each turn. If the brainstem and infranuclear pathways are intact, then the eyes rotate to the opposite side to the direction of head rotation. Stroke is the most common etiology of this finding. HPO:probinson owl:Class HP:0002168 biolink:NamedThing Scanning speech An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly. hp0009lx5z Explosive speech SNOMEDCT_US:77420001|SNOMEDCT_US:102935005|UMLS:C0278184|UMLS:C0522198 owl:Class HP:0031452 biolink:NamedThing Lichenoid skin lesion Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques. hp0009lx5z 2017-09-17 15:34:38+00:00 peter owl:Class HP:0025277 biolink:NamedThing Gustatory sweating Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating). hp0009lx5z 2016-12-18 15:12:09+00:00 HPO:probinson owl:Class HP:0002582 biolink:NamedThing Chronic atrophic gastritis A form of chronic gastritis associated with atrophic gastric mucous membrane. hp0009lx5z Over time, chronic gastritis leads to atrophy of the gastric mucosa. Thus, chronic atrophc gastritis can represent an end stage of chronic gastritis. SNOMEDCT_US:84568007|UMLS:C0017154|MSH:D005757 human_phenotype owl:Class HP:0011435 biolink:NamedThing Low maternal serum PAPP-A An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age. hp0009lx5z Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. peter 2012-03-17T07:51:25Z UMLS:C4023360 human_phenotype owl:Class HP:0003079 biolink:NamedThing Defective DNA repair after ultraviolet radiation damage hp0009lx5z UMLS:C1968564 human_phenotype owl:Class HP:0003557 biolink:NamedThing Increased variability in muscle fiber diameter An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. hp0009lx5z Increased variation in muscle fibre size|Variation in muscle fibre size|Increased variability in muscle fiber size|Variation in muscle fiber size|Increased fibre size variation|Increased fiber size variation|Increased variation in fiber size|Increased variation in muscle fiber size|Increased variability in muscle fibre size|Increased variation in fibre size|Increased variability in muscle fibre diameter This finding can be demonstrated by muscle biopsy. HP:0003556 UMLS:C1843700 human_phenotype owl:Class HP:0030667 biolink:NamedThing Peripheral retinal neovascularization A type of retinal neovascularization that affects the periphery of the retina. hp0009lx5z HPO:probinson UMLS:C0474355|SNOMEDCT_US:247100001 owl:Class HP:0031220 biolink:NamedThing Increased radioactive iodine uptake An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. hp0009lx5z 2017-07-02 11:59:53+00:00 peter owl:Class HP:0006581 biolink:NamedThing Depletion of mitochondrial DNA in liver An abnormal reduction in the number of mitochondria in hepatocytes. hp0009lx5z UMLS:C4025018 owl:Class HP:0031332 biolink:NamedThing Cardiomyocyte degeneration Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris. hp0009lx5z 2017-08-27 12:54:33+00:00 peter owl:Class HP:0031408 biolink:NamedThing Increased proportion of CD25+ mast cells An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). hp0009lx5z 2017-09-04 11:55:41+00:00 Mast cells do not normally express CD25, but neoplastic mast cells may be CD25-positive. Aberrant expression of CD2 and/or CD25 by bone marrow, peripheral blood or other extracutaneous tissue mast cells is currently used as a minor World Health Organization diagnostic criterion for systemic mastocytosis. CD25 expression alone presented a similar sensitivity (100%) with a slightly higher specificity (99.2%). peter owl:Class HP:0003798 biolink:NamedThing Nemaline bodies Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. hp0009lx5z Nemaline rods This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23). UMLS:C3808039 human_phenotype owl:Class HP:0031022 biolink:NamedThing Oropharyngeal squamous papilloma A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus]. hp0009lx5z Squamous papilloma of the uvula 2017-05-21 13:15:14+00:00 peter NCIT:C6038 owl:Class HP:0033685 biolink:NamedThing Fiber type grouping An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. hp0009lx5z Fibre type grouping 2021-03-07 22:40:37+00:00 peter owl:Class HP:0006543 biolink:NamedThing Cardiorespiratory arrest hp0009lx5z MSH:D006323|UMLS:C0600228|SNOMEDCT_US:410430005 human_phenotype owl:Class HP:0006346 biolink:NamedThing Screwdriver-shaped incisors An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape. hp0009lx5z Screwdriver shaped front teeth|Screwdriver-shaped incisors UMLS:C4025058 owl:Class HP:0000700 biolink:NamedThing Periapical bone loss Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). hp0009lx5z Periapical cyst|Periapical radiolucency|Periapical radiolucencies|Periapical lesion|Dark spot around tooth root on x-ray|Bone loss around tooth root|Periapical granuloma Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions. UMLS:C0031029|UMLS:C4280609|SNOMEDCT_US:81407003|MSH:D011842|UMLS:C1852169|UMLS:C0034543|SNOMEDCT_US:89988002|MSH:D010484 owl:Class HP:0001958 biolink:NamedThing Nonketotic hypoglycemia hp0009lx5z UMLS:C1865292 human_phenotype owl:Class HP:0025035 biolink:NamedThing Abnormal proerythroblast morphology Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. hp0009lx5z 2016-09-02 11:16:54+00:00 HPO:probinson owl:Class HP:0030821 biolink:NamedThing Hooded lower eyelid Lower eyelid partly covered by skin when eyes are open. hp0009lx5z UMLS:C4280750 owl:Class HP:0011854 biolink:NamedThing Hemoperitoneum Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. hp0009lx5z Hematoperitoneum hecht 2012-05-21T10:55:34Z MSH:D006465|UMLS:C0744735|SNOMEDCT_US:45626005|UMLS:C0019065|SNOMEDCT_US:443826006 human_phenotype owl:Class HP:0033328 biolink:NamedThing Type II pneumocyte hyperplasia Enlargement of type II pneumocytes characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin. hp0009lx5z 2020-11-29 15:29:09+00:00 peter owl:Class HP:0031500 biolink:NamedThing Abdominal mass An abnormal enlargement or swelling in the abdomen. hp0009lx5z 2017-09-18 01:02:07+00:00 peter owl:Class HP:0006357 biolink:NamedThing Premature loss of permanent teeth Premature loss of the permanent teeth. hp0009lx5z Premature loss of secondary teeth|Early loss of permanent teeth|Early loss of adult teeth|Premature loss of adult teeth|Early loss of secondary dentition UMLS:C1969738 human_phenotype owl:Class HP:0031107 biolink:NamedThing Decreased fibular diameter Reduced width of the cross sectional diameter of the fibula. hp0009lx5z Thin fibula 2017-05-30 03:09:49+00:00 peter owl:Class HP:0005709 biolink:NamedThing 2-3 toe cutaneous syndactyly hp0009lx5z Webbed skin of 2nd-3rd toes|Cutaneous syndactyly of second and third toes|Cutaneous 2,3 toe syndactyly|Complete cutaneous syndactyly of second and third toes UMLS:C0432040|SNOMEDCT_US:205145001 owl:Class HP:0001885 biolink:NamedThing Short 2nd toe Underdevelopment (hypoplasia) of the second toe. hp0009lx5z Short second toe UMLS:C4021769 human_phenotype owl:Class HP:0006336 biolink:NamedThing Short dental root Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. hp0009lx5z Decreased length of dental roots|Underdeveloped dental roots|Dental root hypotrophy|Short dental roots|Rhizomicry|Root dwarfism|Decreased length of tooth roots|Short tooth roots|Dental root hypoplasia|Underdeveloped tooth roots UMLS:C2678330 owl:Class HP:0032032 biolink:NamedThing Horizontal eyelid laxity Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present. hp0009lx5z 2018-09-01 14:51:32+00:00 peter owl:Class HP:0030672 biolink:NamedThing Asteroid hyalosis The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. hp0009lx5z Asteroid hyalosis is a degenerative process. ORCID:0000-0003-0986-4123 SNOMEDCT_US:95800001|UMLS:C0521770 owl:Class HP:0007734 biolink:NamedThing Enlarged lacrimal glands Abnormally big lacrimal glands. hp0009lx5z Enlarged tear gland UMLS:C1867030 human_phenotype owl:Class HP:0030573 biolink:NamedThing Pinhole visual acuity 0.5 LogMAR hp0009lx5z UMLS:C4073046 owl:Class HP:0005650 biolink:NamedThing Cutaneous syndactyly between fingers 2 and 5 A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. hp0009lx5z UMLS:C4025165 human_phenotype owl:Class HP:0033299 biolink:NamedThing Reduced circulating complement factor H related protein 1 concentration Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation. hp0009lx5z 2020-11-28 21:57:26+00:00 peter owl:Class HP:0001653 biolink:NamedThing Mitral regurgitation An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. hp0009lx5z Mitral insufficiency|Mitral regurgitation, mild|Mitral valve insufficiency|Mitral valve regurgitation|Mitral incompetence UMLS:C3551535|Fyler:1151|UMLS:C0026266|SNOMEDCT_US:48724000|MSH:D008944 owl:Class HP:0006818 biolink:NamedThing 4-layered lissencephaly A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm. hp0009lx5z Type 1 lissencephaly|Lissencephaly, type I|Four-layered lissencephaly|Classic lissencephaly|Type I lissencephaly MSH:D054221|SNOMEDCT_US:253147000|UMLS:C0431375 human_phenotype owl:Class HP:0010069 biolink:NamedThing Bullet-shaped 1st metatarsal An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction. hp0009lx5z Bullet-shaped 1st long bone of foot doelkens 2009-05-29T12:13:57Z UMLS:C4024075 human_phenotype owl:Class HP:0031119 biolink:NamedThing Bicuspid aortic valve with right-left cusp fusion A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure. hp0009lx5z 2017-06-10 11:48:42+00:00 peter owl:Class HP:0008467 biolink:NamedThing Thoracic hemivertebrae Absence of one half of the vertebral body in the thoracic spine. hp0009lx5z Midthoracic hemivertebrae HP:0004604 UMLS:C0432152|SNOMEDCT_US:95304000|UMLS:C4020799 human_phenotype owl:Class HP:0011807 biolink:NamedThing Type 1 muscle fiber atrophy Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. hp0009lx5z Type 1 muscle fibre atrophy peter 2012-04-26T12:05:14Z UMLS:C4023180 human_phenotype owl:Class HP:0007841 biolink:NamedThing Amyloid deposition in the vitreous humor Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity. hp0009lx5z Vitreous amyloid deposits|Amyloid deposition in the vitreous humour UMLS:C4024784 human_phenotype owl:Class HP:0031814 biolink:NamedThing Palilalia Repetition of one's own words or phrases. hp0009lx5z 2018-04-28 22:45:49+00:00 peter owl:Class HP:0031992 biolink:NamedThing Apical hypertrophic cardiomyopathy Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity. hp0009lx5z 2018-07-09 15:40:34+00:00 peter owl:Class HP:0030912 biolink:NamedThing Duplicated clitoris Supernumerary clitoris. hp0009lx5z The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as duplicated clitoris. owl:Class HP:0033559 biolink:NamedThing Anti-myeloperoxidase antibody positivity The presence of autoantibodies in the blood circulation that react against myeloperoxidase. hp0009lx5z Anti-MPO antibody positivity 2021-01-23 12:16:50+00:00 peter owl:Class HP:0031771 biolink:NamedThing Epicanthus tarsalis A type of epicanthus in which a primarily upper lid fold is present. hp0009lx5z 2018-01-25 11:24:33+00:00 Epicanthus tarsalis is a normal anatomic variant in the Asian population. peter owl:Class HP:0004529 biolink:NamedThing Atrophic, patchy alopecia hp0009lx5z UMLS:C4025314 human_phenotype owl:Class HP:0032621 biolink:NamedThing Hyperchromasia of renal tubular epithelial cells At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. hp0009lx5z Condensed chromatin of renal tubular epithelial cells peter owl:Class HP:0030403 biolink:NamedThing Spontaneous platelet aggregation Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation. hp0009lx5z MSH:C566800|UMLS:C1868263 owl:Class HP:0033944 biolink:NamedThing Arcuate vein medial/intimal liquefactive necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. hp0009lx5z Liquefactive necrosis within arcuate vein intima/media 2021-06-24 01:53:42+00:00 peter owl:Class HP:0003435 biolink:NamedThing Cold-induced hand cramps hp0009lx5z UMLS:C1832279 human_phenotype owl:Class HP:0031572 biolink:NamedThing Tessier number 1 facial cleft As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly. hp0009lx5z 2017-10-14 12:27:58+00:00 peter owl:Class HP:0033977 biolink:NamedThing Talar aplasia Absent talus owing to a congenital defect. hp0009lx5z Talus aplasia|Absent talus 2021-06-25 14:07:43+00:00 peter owl:Class HP:0031609 biolink:NamedThing Geographic atrophy Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium. hp0009lx5z 2017-12-10 14:57:12+00:00 peter owl:Class HP:0500134 biolink:NamedThing Hypertryptophanemia An increased amount of tryptophan in the blood. hp0009lx5z Increased tryptophan in blood|High blood tryptophan concentration 2018-10-01 15:09:12+00:00 owl:Class HP:0001520 biolink:NamedThing Large for gestational age The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. hp0009lx5z Macrosomia|Birthweight > 90th percentile|Fetal macrosomia|Macrosomia, neonatal|Foetal macrosomia|Birth weight > 90th percentile Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. HP:0001825 UMLS:C1848395 human_phenotype owl:Class HP:0032510 biolink:NamedThing Tendon pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon. hp0009lx5z 2019-05-23 23:19:19+00:00 peter owl:Class HP:0033630 biolink:NamedThing Brain fog Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously. hp0009lx5z Mental clouding|Mental fatigue|Mental fog 2021-01-31 18:36:08+00:00 Brain fog has been reported in a range of diseases including myalgic encephalomyelitis/chronic fatigue syndrome, non-celiac gluten disease, postural tachycardia syndrome, lupus, and COVID-19. peter owl:Class HP:0011964 biolink:NamedThing Intermittent painful muscle spasms History of repeated intermittent involuntary muscle contractions that were painful. hp0009lx5z peter 2012-07-16T01:17:16Z UMLS:C4023104 human_phenotype owl:Class HP:0031200 biolink:NamedThing Hyaline casts A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. hp0009lx5z 2017-06-27 11:00:48+00:00 peter owl:Class HP:0031807 biolink:NamedThing Increased basophil count An abnormally increased count of basophils per volume in the blood circulation. hp0009lx5z Basophilia 2018-04-04 01:15:24+00:00 peter owl:Class HP:0006136 biolink:NamedThing Bilateral postaxial polydactyly hp0009lx5z UMLS:C1855003 human_phenotype owl:Class HP:0000923 biolink:NamedThing Beaded ribs The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage. hp0009lx5z Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children. UMLS:C0426824 owl:Class HP:0000721 biolink:NamedThing Lack of spontaneous play hp0009lx5z Lack of spontaneous play UMLS:C1837650 human_phenotype owl:Class HP:0032253 biolink:NamedThing Eosinophilic granuloma A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris. hp0009lx5z 2019-01-27 16:50:48+00:00 Eosinophilic granuloma (EG) is a benign disorder that affects children and young adults, particularly males. Solitary EG accounts for the majority of Langerhans cell histiocytosis cases, usually involving bone and less commonly the lymph nodes, lung or skin. peter owl:Class HP:0011999 biolink:NamedThing Paranoia A persecutory delusion of supposed hostility of others. hp0009lx5z Paranoia peter 2012-07-19T01:00:23Z UMLS:C1456784|MSH:D010259|SNOMEDCT_US:191667009 human_phenotype owl:Class HP:0030991 biolink:NamedThing Sclerosing cholangitis Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. hp0009lx5z Fibrous cholangitis 2017-05-13 13:42:59+00:00 peter owl:Class HP:0004660 biolink:NamedThing Hypoplasia of facial musculature Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). hp0009lx5z Underdevelopment of facial muscles|Small facial muscles|Atrophy of facial musculature|Decreased size of facial muscles|Deficiency of facial musculature|Hypotrophic facial musculature UMLS:C4280511|UMLS:C4280509|UMLS:C4280510|UMLS:C1834042 human_phenotype owl:Class HP:0030023 biolink:NamedThing Quelprud nodule Small cartilaginous prominence on the posterior concha. hp0009lx5z This feature is best visualized when the earlobe is tilted anteriorly. UMLS:C4022673 owl:Class HP:0100594 biolink:NamedThing Esophageal web Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare). hp0009lx5z doelkens 2010-12-27T04:51:07Z SNOMEDCT_US:22395006|SNOMEDCT_US:19216006|UMLS:C0267080 human_phenotype owl:Class HP:0000446 biolink:NamedThing Narrow nasal bridge Decreased width of the bony bridge of the nose. hp0009lx5z Narrow nasal root|Narrow bridge of nose|Nasal Bridge, Narrow|Narrow nasal bridge|Pinched nasal bridge|Nasal bridge, thin|Pinched bridge of nose The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age. HP:0100782 UMLS:C4551564 owl:Class HP:0010158 biolink:NamedThing Stippling of the epiphysis of the 1st metatarsal hp0009lx5z Speckled calcifications in the end part of the 1st long bone of foot doelkens 2009-05-29T01:24:17Z UMLS:C4024001 human_phenotype owl:Class HP:0031045 biolink:NamedThing Acral blistering Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet). hp0009lx5z 2017-05-27 14:02:49+00:00 peter owl:Class HP:0025393 biolink:NamedThing Reticulonodular pattern on pulmonary HRCT Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. hp0009lx5z 2017-04-22 13:02:17+00:00 HPO:probinson owl:Class HP:0007678 biolink:NamedThing Lacrimal duct stenosis Narrowing of a tear duct (lacrimal duct). hp0009lx5z Nasolacrimal duct stenosis|Narrowing of the tear duct HP:0007669 UMLS:C0238300|SNOMEDCT_US:231841004 human_phenotype owl:Class HP:0012149 biolink:NamedThing Bilineage myelodysplasia Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic. hp0009lx5z peter 2012-09-16T08:39:10Z UMLS:C4023020 human_phenotype owl:Class HP:4000004 biolink:NamedThing Myocardial late gadolinium enhancement Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium. hp0009lx5z Delayed myocardial gadolinium enhancement 2021-04-24 14:43:32+00:00 LGE can be detected in post-infarct scars, inflammation, as well as non-ischemic CMP, cardiac neoplasm and storage diseases such as amyloidosis. robinp owl:Class HP:0000339 biolink:NamedThing Pugilistic facies Coarse facial features reminiscent of those of a boxer. hp0009lx5z Pugilistic facial appearance|Boxer-like facial appearance UMLS:C1846011 human_phenotype owl:Class HP:0012147 biolink:NamedThing Reduced quantity of Von Willebrand factor Decreased quantity of von Willebrand factor. hp0009lx5z Decreased von Willebrand factor peter 2012-09-16T08:27:00Z UMLS:C1841816|UMLS:C4023022 human_phenotype owl:Class HP:0011047 biolink:NamedThing Agenesis of primary mandibular central incisor Agenesis of lower primary incisor. hp0009lx5z Absence of primary mandibular central incisor|Absence of deciduous mandibular central incisor|Missing lower front primary tooth|Missing lower front milk tooth|Missing lower central incisor milk tooth|Failure of development of primary mandibular central incisor|Missing lower front baby tooth|Agenesis of primary lower central incisor|Missing primary mandibular central incisor|Missing deciduous mandibular central incisor|Agenesis of deciduous lower central incisor|Failure of development of deciduous mandibular central incisor peter 2011-03-10T11:14:55Z UMLS:C4280355|UMLS:C4023570|UMLS:C4280356 human_phenotype owl:Class HP:0001423 biolink:NamedThing X-linked dominant inheritance A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. hp0009lx5z X-linked dominant UMLS:C1847879 human_phenotype owl:Class HP:0032073 biolink:NamedThing Aplasia of the fallopian tube Aplasia, that is failure to develop, of the fallopian tube. hp0009lx5z 2018-10-13 11:45:07+00:00 peter owl:Class HP:0011487 biolink:NamedThing Increased corneal thickness A increased anteroposterior thickness of the cornea. hp0009lx5z peter 2012-04-02T10:17:35Z UMLS:C3810451 human_phenotype owl:Class HP:0008447 biolink:NamedThing Hypoplastic coccygeal vertebrae hp0009lx5z UMLS:C2751480 human_phenotype owl:Class HP:0030487 biolink:NamedThing Abnormal P50/N95 ratio of pattern electroretinogram hp0009lx5z UMLS:C4072977 owl:Class HP:0025514 biolink:NamedThing Morning glory anomaly An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. hp0009lx5z Morning glory disc anomaly|Morning glory optic disc 2017-05-15 02:00:59+00:00 The name of this anomaly derives from a perceived similarity of the anomaly to the morning glory flower. HPO:probinson owl:Class HP:0033589 biolink:NamedThing Flatulence Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating. hp0009lx5z 2021-01-27 21:29:30+00:00 peter owl:Class HP:0007522 biolink:NamedThing Increased number of skin folds hp0009lx5z Increased number of skin folds UMLS:C4024853 human_phenotype owl:Class HP:0000191 biolink:NamedThing Accessory oral frenulum Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. hp0009lx5z Extra oral frenulum|Extra oral frenum|Accessory oral frenum|Supernumerary oral frenum|Multiple oral frenula|Supernumerary oral frenulum This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately. UMLS:C4021814 human_phenotype owl:Class HP:0006233 biolink:NamedThing Osteoarthritis of the distal interphalangeal joint hp0009lx5z UMLS:C0409957|SNOMEDCT_US:239869009 human_phenotype owl:Class HP:0032865 biolink:NamedThing Myoclonic absence status epilepticus Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG. hp0009lx5z peter owl:Class HP:0005542 biolink:NamedThing Prolonged whole-blood clotting time An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot. hp0009lx5z Prolonged clotting time HP:0003229 UMLS:C0151563 human_phenotype owl:Class HP:0000552 biolink:NamedThing Tritanomaly Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. hp0009lx5z Dyschromatopsia, blue-yellow|Blue/yellow colour vision defect|Blue yellow color blindness|Blue yellow colour blindness|Blue-yellow dyschromatopsia|Blue/yellow color vision defect SNOMEDCT_US:85049009|UMLS:C1970167|MSH:D003117|SNOMEDCT_US:51886007|UMLS:C0155017 human_phenotype owl:Class HP:0025150 biolink:NamedThing Hypoganglionosis Sparse and small myenteric ganglia hp0009lx5z 2016-12-03 14:28:39+00:00 Enteric ganglia are the nerve cell clusters (groups of nerve cell bodies) that are involved in mediating the muscular activity of the intestines. HPO:probinson owl:Class HP:0008083 biolink:NamedThing 2nd-5th toe middle phalangeal hypoplasia hp0009lx5z Underdeveloped 2nd-5th middle toe bones UMLS:C1861376 human_phenotype owl:Class HP:0008005 biolink:NamedThing Congenital corneal dystrophy hp0009lx5z UMLS:C1611195 human_phenotype owl:Class HP:0030867 biolink:NamedThing Vertical orbital dystopia The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. hp0009lx5z Misaligned eyes|Eyes at different heights|Unequal eye height SNOMEDCT_US:253243008|UMLS:C0431460 owl:Class HP:0032031 biolink:NamedThing Medial canthal tendon laxity Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. hp0009lx5z 2018-09-01 14:50:46+00:00 peter owl:Class HP:0012217 biolink:NamedThing Increased urinary porphobilinogen Increased concentration of porphobilinogen in the urine. hp0009lx5z Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis. peter 2013-03-30T06:45:01Z UMLS:C4023000 owl:Class HP:0012805 biolink:NamedThing Iris transillumination defect Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. hp0009lx5z Initially, transillumination defects are usually slit-like, but if pigment loss increases, the defects may be become larger and irregularly shaped. hecht 2014-05-25T03:43:06Z UMLS:C1096099 human_phenotype owl:Class HP:0011967 biolink:NamedThing Decreased circulating copper concentration A reduced concentration of copper in the blood. hp0009lx5z Reduced serum copper|Copper deficiency|Hypocupremia peter 2012-07-18T08:29:13Z SNOMEDCT_US:19577007|UMLS:C0268070 human_phenotype owl:Class HP:0001735 biolink:NamedThing Acute pancreatitis A acute form of pancreatitis. hp0009lx5z Acute pancreatic inflammation|Pancreatitis, acute HP:0004512 SNOMEDCT_US:197456007|UMLS:C0001339 human_phenotype owl:Class HP:0000852 biolink:NamedThing Pseudohypoparathyroidism A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone. hp0009lx5z SNOMEDCT_US:58976002|UMLS:C0033806|MSH:D011547 human_phenotype owl:Class HP:0008269 biolink:NamedThing Increased red cell hemolysis by shear stress hp0009lx5z UMLS:C3806125 human_phenotype owl:Class HP:0012825 biolink:NamedThing Mild Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. hp0009lx5z Mild PATO:0000394, mild. peter 2014-06-06T06:41:33Z SNOMEDCT_US:446411000124101|UMLS:C1513302 human_phenotype owl:Class HP:0030132 biolink:NamedThing Absence of large von Willibrand factor multimers Absence of large von Willebrand Factor multimers on gel electrophoresis. hp0009lx5z Type 2B von Willibrand disease is characterized by lack of large von Willibrand factor multimers with an otherwise normal von Willibrand factor multimer pattern. UMLS:C4022616 owl:Class HP:0030814 biolink:NamedThing Orange discolored tonsils A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903. hp0009lx5z Orange discoloured tonsils|Orange colored tonsils|Orange tonsils|Tonsils with orange deposits|Orange coloured tonsils UMLS:C4280753 owl:Class HP:0001782 biolink:NamedThing Bulbous tips of toes An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. hp0009lx5z UMLS:C4025747 human_phenotype owl:Class HP:0031444 biolink:NamedThing Dilatation of the tricuspid annulus An increase in the diameter of the ring (annulus) of the tricuspid valve. hp0009lx5z 2017-09-17 13:52:05+00:00 peter owl:Class HP:0033887 biolink:NamedThing Cortical radial artery intimal/medial amyloidosis Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy hp0009lx5z Interlobular arterial intima/media amyloidosis|Amyloidosis within interlobular arterial intima/media 2021-06-23 21:57:32+00:00 peter owl:Class HP:5000041 biolink:NamedThing Anti-CRMP5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against collapsin response-mediated protein 5 (CRMP5). hp0009lx5z Anti-collapsin response-mediated protein 5 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0012566 biolink:NamedThing Premature epimetaphyseal fusion in radius Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. hp0009lx5z peter 2014-01-04T02:09:50Z UMLS:C4022841 human_phenotype owl:Class HP:0001807 biolink:NamedThing Ridged nail Longitudinal, linear prominences in the nail plate. hp0009lx5z Longitudinal ridging|Nail ridging|Ridged nails|Grooved nails There may be only one, or several ridges. The affected digits should be specified. HP:0001801|HP:0001811 UMLS:C0423820|SNOMEDCT_US:271768001 human_phenotype owl:Class HP:0030632 biolink:NamedThing Hypoautofluorescent macular lesion Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. hp0009lx5z Hypo-autofluorescent macular lesion UMLS:C4073102 owl:Class HP:0012553 biolink:NamedThing Hypoplastic thumbnail A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail. hp0009lx5z Small thumbnail|Underdeveloped thumbnail peter 2014-01-04T12:57:28Z UMLS:C4022850 human_phenotype owl:Class HP:0410268 biolink:NamedThing Spleen hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen. hp0009lx5z Splenic hemangioma 2018-10-30 01:57:13+00:00 owl:Class HP:0012663 biolink:NamedThing Mildly reduced ejection fraction A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent. hp0009lx5z peter 2014-02-15T01:06:28Z UMLS:C4022793 human_phenotype owl:Class HP:0005011 biolink:NamedThing Mesomelic arm shortening Shortening of the middle parts of the arm in relation to the upper and terminal segments. hp0009lx5z Mesomelia of the upper limbs|Upper limb brachymesomelia HP:0005024|HP:0006455 UMLS:C1862087 human_phenotype owl:Class HP:0011851 biolink:NamedThing Hemopericardium Accumulation of blood within the pericardial sac. hp0009lx5z hecht 2012-05-21T10:43:03Z UMLS:C0019064|MSH:D010490|SNOMEDCT_US:23412002 owl:Class HP:0011810 biolink:NamedThing Impaired two-point discrimination A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart. hp0009lx5z A normal individual can sense about a 3 mm separation of points on the fingertips. peter 2012-04-28T02:50:12Z UMLS:C4023178 human_phenotype owl:Class HP:0000495 biolink:NamedThing Recurrent corneal erosions The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. hp0009lx5z Recurrent corneal ulceration|Recurrent breakdown of clear protective layer of eye|Recurrent corneal ulcerations|Corneal erosions, recurrent|Epithelial corneal erosions HP:0007749|HP:0007674 SNOMEDCT_US:91514001|SNOMEDCT_US:2055003|UMLS:C4020888|MSH:D003320|UMLS:C0010043|UMLS:C0155119 human_phenotype owl:Class HP:0011700 biolink:NamedThing Automatic atrial tachycardia Chronic supraventricular tachycardia predominantly seen in childhood. hp0009lx5z peter 2012-04-10T11:19:33Z MSH:D013612|UMLS:C0039234|SNOMEDCT_US:233892002 human_phenotype owl:Class HP:0007411 biolink:NamedThing Hypoplastic-absent sebaceous glands hp0009lx5z UMLS:C1844617 human_phenotype owl:Class HP:0004034 biolink:NamedThing Irregular olecranon hp0009lx5z UMLS:C4025428 human_phenotype owl:Class HP:0500253 biolink:NamedThing Increased level of gamma-aminobutyric acid in urine Elevated concentration of gamma-aminobutyric acid in the urine. hp0009lx5z Increased urinary excretion of gamma-aminobutyric acid (GABA) 2019-03-08 20:23:10+00:00 owl:Class HP:0410187 biolink:NamedThing Decreased glucose-6-phosphate dehydrogenase level in tissue A decrease in the level of glucose-6-phosphate dehydrogenase in tissue. hp0009lx5z Decreased G6PD level in tissue 2018-05-21 18:03:29+00:00 owl:Class HP:0031372 biolink:NamedThing Cold paresis Increased muscle weakness upon exposure to cold temperatures. hp0009lx5z 2017-09-02 01:39:18+00:00 peter owl:Class HP:0045085 biolink:NamedThing Atrophy of masseter muscle hp0009lx5z Atrophied masseter muscle|Masseter muscle atrophy owl:Class HP:0500064 biolink:NamedThing Retinopathy of prematurity threshold A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease. hp0009lx5z ROP threshold 2018-02-19 20:26:45+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0031548 biolink:NamedThing Follicular infundibulum tumor A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma. hp0009lx5z Follicular infundibulum tumour|Basal cell hamartoma with follicular differentiation 2017-09-24 23:07:25+00:00 peter owl:Class HP:0020176 biolink:NamedThing Cholesterol crystalluria The presence of cholesterol crystals in the urine. hp0009lx5z Cholesterol crystals are transparent plates with well-defined edges and corners, which polarize light inconstantly. They are not found in normal subjects, and characteristically occur in patients with lipiduria secondary to nephrotic syndrome. robinp 2019-07-06 22:11:11+00:00 owl:Class HP:0002632 biolink:NamedThing Low-to-normal blood pressure hp0009lx5z Low-to-normal BP|Low-to-normal blood pressure UMLS:C1866500 human_phenotype owl:Class HP:0006153 biolink:NamedThing Disharmonious carpal bone hp0009lx5z Disharmonious wrist bone UMLS:C2675549 human_phenotype owl:Class HP:0030855 biolink:NamedThing Anterior staphyloma A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. hp0009lx5z UMLS:C0339206|SNOMEDCT_US:231888000 owl:Class HP:0031256 biolink:NamedThing Optic nerve arteriovenous malformation An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve. hp0009lx5z 2017-08-12 15:51:08+00:00 peter owl:Class HP:0410296 biolink:NamedThing Complete or near-complete absence of specific antibody response to hepatitis B vaccine The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination. hp0009lx5z 2019-01-28 22:02:42+00:00 owl:Class HP:0001176 biolink:NamedThing Large hands hp0009lx5z large hand|Large hands|Disproportionately large hands HP:0002820|HP:0006219|HP:0006044 SNOMEDCT_US:249752003|UMLS:C0426870 human_phenotype owl:Class HP:0003558 biolink:NamedThing Viral infection-induced rhabdomyolysis Rhabdomyolysis induced by a viral infection. hp0009lx5z UMLS:C4025595 human_phenotype owl:Class HP:0410345 biolink:NamedThing Increased urinary polyhexose An abnormal increase in the concentration of polyhexose in the urine. hp0009lx5z Increased polyhexose concentration in urine owl:Class HP:0007976 biolink:NamedThing Cerulean cataract Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. hp0009lx5z Cataracts, congenital, cerulean UMLS:C0344523|MSH:C537955|SNOMEDCT_US:204138006 human_phenotype owl:Class HP:0002724 biolink:NamedThing Recurrent Aspergillus infections An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections. hp0009lx5z Aspergillus infections, recurrent UMLS:C4021752 human_phenotype owl:Class HP:0031635 biolink:NamedThing Anomalous origin of the left common carotid artery from the brachiocephalic artery The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. hp0009lx5z Anomalous origin of the left common carotid artery from the brachiocephalic trunk 2017-12-17 12:29:45+00:00 peter owl:Class HP:0010992 biolink:NamedThing Stress urinary incontinence Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing. hp0009lx5z peter 2011-02-09T12:13:46Z UMLS:C0042025|SNOMEDCT_US:22220005|MSH:D014550 human_phenotype owl:Class HP:0032935 biolink:NamedThing Posterior crocodile shagreen of the cornea Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin. hp0009lx5z peter owl:Class HP:0002396 biolink:NamedThing Cogwheel rigidity A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). hp0009lx5z Cogwheel rigidity is a typical manifestation of Parkinson disease. SNOMEDCT_US:55630000|UMLS:C0151564|MSH:D009127 human_phenotype owl:Class HP:0000670 biolink:NamedThing Carious teeth Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. hp0009lx5z Rotting teeth|Frequent caries|Cariosity of teeth|Caries|Dental caries|Tooth decay|Early dental caries|Dental cavities|Dental decay|Tooth cavities It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. HP:0006295|HP:0006306 UMLS:C4280623|SNOMEDCT_US:80967001|MSH:D003731|UMLS:C0011334 human_phenotype owl:Class HP:0012644 biolink:NamedThing Increased caudate lactate level An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging. hp0009lx5z peter 2014-01-28T08:19:22Z UMLS:C4022806 human_phenotype owl:Class HP:0007326 biolink:NamedThing Progressive choreoathetosis hp0009lx5z UMLS:C1860216 human_phenotype owl:Class HP:0000878 biolink:NamedThing 11 pairs of ribs Presence of only 11 pairs of ribs. hp0009lx5z 11 pairs of ribs Normally, there are 12 pairs of ribs. UMLS:C1839731 human_phenotype owl:Class HP:0004901 biolink:NamedThing Exercise-induced lactic acidemia A form of lactic acidemia that occurs following exercise or exertion. hp0009lx5z Exercise-induced lactic acidosis UMLS:C4025277 human_phenotype owl:Class HP:0005585 biolink:NamedThing Spotty hyperpigmentation hp0009lx5z Patchy hyperpigmentation|Spotty increased pigmentation UMLS:C3806179 human_phenotype owl:Class HP:0000316 biolink:NamedThing Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). hp0009lx5z Wide-set eyes|Excessive orbital separation|Increased distance between eye sockets|Increased distance between eyes|Increased interpupillary distance|Widely spaced eyes|Widened interpupillary distance|Ocular hypertelorism HP:0007871|HP:0002001|HP:0004657|HP:0000578 SNOMEDCT_US:194021007|MSH:D006972|UMLS:C0020534|SNOMEDCT_US:22006008 human_phenotype owl:Class HP:0033119 biolink:NamedThing Elevated right ventricular systolic pressure Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg. hp0009lx5z 2020-09-03 12:08:23+00:00 In the absence of right ventricular (RV) outflow tract obstruction, RV systolic pressure is equal to pulmonary artery systolic pressure. The gold standard for the measurement of PH is right heart catheterization, but this is invasive with the inherent risk of complications. Echocardiography has been touted as providing an accurate measurement of the right ventricular systolic pressure based on the estimated flow of the tricuspid regurgitant jet. peter owl:Class HP:0005524 biolink:NamedThing Macrocytic hemolytic disease hp0009lx5z UMLS:C4025185 human_phenotype owl:Class HP:0012837 biolink:NamedThing Generalized Affecting all regions without specificity of distribution. hp0009lx5z Generalised PATO:0002403. peter 2014-06-06T07:25:58Z UMLS:C0205246|SNOMEDCT_US:60132005 human_phenotype owl:Class HP:0030511 biolink:NamedThing Bradyopsia Difficulty in seeing moving objects. hp0009lx5z Difficulty seeing moving objects MSH:C564243|UMLS:C1842073|SNOMEDCT_US:711163009 owl:Class HP:0032225 biolink:NamedThing Perifollicular fibroma Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle. hp0009lx5z 2019-01-26 14:14:55+00:00 Multiple Perifollicular fibroma (PFF) lesions have been linked to adenomatous colonic polyps and they may be inherited as an autosomal dominant trait. Most reports have described multiple PFF lesions involving the scalp. peter owl:Class HP:0008739 biolink:NamedThing Labial pseudohypertrophy hp0009lx5z UMLS:C1835380 owl:Class HP:0031672 biolink:NamedThing Reverse typical atrial flutter A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1. hp0009lx5z 2017-12-17 16:47:28+00:00 peter owl:Class HP:0031540 biolink:NamedThing Linear IgG deposits along the epidermal basement membrane zone Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. hp0009lx5z 2017-09-24 01:35:53+00:00 peter owl:Class HP:0040240 biolink:NamedThing Increased ratio of VWF propeptide to VWF antigen An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA. hp0009lx5z Some forms of von Willebrand Disease Type I (particularly those previously classified as type IC) and Acquired von Willebrand Disease. This term has been requested and created by members of the BRIDGE consortium UMLS:C4280707 owl:Class HP:0000892 biolink:NamedThing Bifid ribs A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. hp0009lx5z Cleft ribs|Split ribs UMLS:C4721788 owl:Class HP:0011348 biolink:NamedThing Abnormal sixth cranial nerve morphology Any structural abnormality of the abducens nerve. hp0009lx5z Abnormal abducens nerve morphology|Abnormality of the sixth cranial nerve The abducens nerve (also known as the sixth cranial nerve or cranioal nerve VI) controls the movement of the lateral rectus muscle of the eye, which moves the eyeball in the outward direction (towards the side of the head). peter 2012-03-01T10:20:44Z UMLS:C4023404 owl:Class HP:0003466 biolink:NamedThing Paradoxical increased cortisol secretion on dexamethasone suppression test hp0009lx5z UMLS:C1968855 human_phenotype owl:Class HP:0007760 biolink:NamedThing Crystalline corneal dystrophy hp0009lx5z MSH:C535475|SNOMEDCT_US:39662004|SNOMEDCT_US:419395007|UMLS:C0271287 human_phenotype owl:Class HP:0006671 biolink:NamedThing Paroxysmal atrial tachycardia hp0009lx5z UMLS:C0030587|SNOMEDCT_US:195069001 human_phenotype owl:Class HP:0032863 biolink:NamedThing Typical absence status epilepticus Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure. hp0009lx5z Simple absence status epilepticus This may occur as a consequence of medication withdrawal in absence epilepsy syndromes. peter owl:Class HP:0033468 biolink:NamedThing 10-minute APGAR score of 0 hp0009lx5z 2021-01-09 22:45:21+00:00 peter owl:Class HP:0410343 biolink:NamedThing Decreased circulating heparan sulfate level An abnormal decrease in the concentration of heparan sulfate in the blood. hp0009lx5z Decreased blood heparan sulphate concentration|Decreased circulating heparan sulphate level|Decreased blood heparan sulfate concentration owl:Class HP:0032866 biolink:NamedThing Oculoclonic status epilepticus A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges. hp0009lx5z peter owl:Class HP:0030659 biolink:NamedThing Velamentous cord insertion Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta. hp0009lx5z Velamentous cord insertion and an incidence of 1.1 percent of singleton births, and 8.7 to 16 percent of twin births. UToronto:chum SNOMEDCT_US:77278008|UMLS:C0266789 owl:Class RO:0003001 biolink:NamedThing hp0009lx5z owl:ObjectProperty RO:0000087 biolink:NamedThing hp0009lx5z owl:ObjectProperty has_part biolink:NamedThing has part hp0009lx5z BFO:0000051|BFO:0000051 has_part|has_part owl:ObjectProperty BFO:0000066 biolink:NamedThing occurs in hp0009lx5z BFO:0000066|BFO:0000066 occurs_in|occurs_in owl:ObjectProperty RO:0002215 biolink:NamedThing hp0009lx5z owl:ObjectProperty RO:0000052 biolink:NamedThing inheres in hp0009lx5z RO:0000052|RO:0000052 inheres_in|inheres_in owl:ObjectProperty RO:0002371 biolink:NamedThing hp0009lx5z owl:ObjectProperty RO:0002503 biolink:NamedThing towards hp0009lx5z RO:0002503|RO:0002503 towards|towards owl:ObjectProperty BSPO:0000121 biolink:NamedThing hp0009lx5z owl:ObjectProperty RO:0002314 biolink:NamedThing inheres in part of hp0009lx5z RO:0002314|RO:0002314 inheres_in_part_of|inheres_in_part_of owl:ObjectProperty BSPO:0000120 biolink:NamedThing hp0009lx5z owl:ObjectProperty RO:0001025 biolink:NamedThing hp0009lx5z owl:ObjectProperty RO:0002490 biolink:NamedThing hp0009lx5z owl:ObjectProperty RO:0002573 biolink:NamedThing has modifier hp0009lx5z placeholder relation to indicate normality/abnormality.|placeholder relation to indicate normality/abnormality. RO:0002180|RO:0002180 qualifier|qualifier owl:ObjectProperty RO:0002488 biolink:NamedThing hp0009lx5z owl:ObjectProperty BFO:0000050 biolink:NamedThing part of hp0009lx5z BFO:0000050|BFO:0000050 part_of|part_of owl:ObjectProperty CHEBI:35143 biolink:NamedThing hp0009lx5z owl:Class OBO:hp#hposlim_core biolink:NamedThing hp0009lx5z Core clinical terminology owl:AnnotationProperty CL:0000111 biolink:NamedThing hp0009lx5z owl:Class HP:0011155 biolink:NamedThing obsolete Focal autonomic seizures with altered responsiveness hp0009lx5z HP:0032755 peter 2011-10-18T02:24:09Z True owl:Class http://orcid.org/0000-0001-5208-3432 biolink:NamedThing hp0009lx5z UBERON:0002390 biolink:NamedThing hp0009lx5z owl:Class MPATH:36 biolink:NamedThing hp0009lx5z owl:Class HP:0012201 biolink:NamedThing obsolete Reduced prothrombin activity hp0009lx5z HP:0008151 True owl:Class UBERON:0001359 biolink:NamedThing hp0009lx5z owl:Class PATO:0001439 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002360 biolink:NamedThing hp0009lx5z owl:Class http://orcid.org/0000-0001-7941-2961 biolink:NamedThing hp0009lx5z PATO:0000915 biolink:NamedThing hp0009lx5z owl:Class HP:0045016 biolink:NamedThing obsolete Elevated serum long-chain fatty acids hp0009lx5z Increased serum long-chain fatty acids HP:0003455 True owl:Class UBERON:0001051 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004334 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005402 biolink:NamedThing hp0009lx5z owl:Class PATO:0000394 biolink:NamedThing hp0009lx5z owl:Class GO:0046541 biolink:NamedThing hp0009lx5z owl:Class HP:0008356 biolink:NamedThing obsolete Combined hyperlipidemia hp0009lx5z HP:0003077 True owl:Class OIO:shorthand biolink:NamedThing shorthand hp0009lx5z owl:AnnotationProperty HP:0001322 biolink:NamedThing obsolete Brain very small hp0009lx5z HP:0006872 True owl:Class HP:0004175 biolink:NamedThing obsolete Periosteal new bone of middle phalanx of middle-finger hp0009lx5z HP:0004172 True owl:Class HP:0004202 biolink:NamedThing obsolete Lytic defects of the proximal phalanx of the ring finger hp0009lx5z HP:0009312 True owl:Class UBERON:0002100 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003637 biolink:NamedThing hp0009lx5z owl:Class MPATH:502 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001333 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003697 biolink:NamedThing hp0009lx5z owl:Class HP:0011162 biolink:NamedThing obsolete Psychic auras hp0009lx5z HP:0032680 peter 2011-10-18T02:29:23Z True owl:Class CL:0000094 biolink:NamedThing hp0009lx5z owl:Class HP:0006158 biolink:NamedThing obsolete Finger joint hyperextensibility hp0009lx5z True owl:Class HP:0004157 biolink:NamedThing obsolete Accessory middle-finger phalanges hp0009lx5z HP:0009963 True owl:Class OBO:hp#layperson biolink:NamedThing layperson term hp0009lx5z HPO:skoehler owl:AnnotationProperty CHEBI:16831 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012167 biolink:NamedThing hp0009lx5z owl:Class HP:0040065 biolink:NamedThing obsolete Abnormal morphology of bones of the upper limbs hp0009lx5z HP:0040070 True owl:Class NBO:0000075 biolink:NamedThing hp0009lx5z owl:Class OIO:hasDbXref biolink:NamedThing database_cross_reference hp0009lx5z owl:AnnotationProperty HP:0007435 biolink:NamedThing obsolete Diffuse palmoplantar keratoderma hp0009lx5z HP:0007447 True owl:Class HP:0001150 biolink:NamedThing obsolete Choroidal sclerosis hp0009lx5z HP:0000532 True owl:Class HP:0012455 biolink:NamedThing obsolete Large artery calcification hp0009lx5z HP:0003207 True owl:Class UBERON:0002030 biolink:NamedThing hp0009lx5z owl:Class CL:0000187 biolink:NamedThing hp0009lx5z owl:Class HP:0006525 biolink:NamedThing obsolete Lung segmentation defects hp0009lx5z HP:0002101 True owl:Class GO:0000016 biolink:NamedThing lactase activity hp0009lx5z owl:Class UBERON:0002199 biolink:NamedThing hp0009lx5z owl:Class HP:0009449 biolink:NamedThing obsolete Hypoplastic/small phalanges of the 3rd finger hp0009lx5z HP:0009447 True owl:Class UBERON:0004482 biolink:NamedThing hp0009lx5z owl:Class HP:0032340 biolink:NamedThing obsolete Abnormal spirometry test hp0009lx5z HP:0030878 2019-02-21 12:38:21+00:00 peter True owl:Class UBERON:0007827 biolink:NamedThing hp0009lx5z owl:Class HP:0032683 biolink:NamedThing obsolete Focal aware cognitive seizure with impaired attention hp0009lx5z HP:0032681 peter True owl:Class UBERON:0002437 biolink:NamedThing hp0009lx5z owl:Class HP:0008012 biolink:NamedThing obsolete Congenital myopia hp0009lx5z HP:0000545 True owl:Class HP:0001472 biolink:NamedThing obsolete Familial predisposition hp0009lx5z HP:0001426 True owl:Class UBERON:0002027 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001091 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002291 biolink:NamedThing hp0009lx5z owl:Class HP:0007758 biolink:NamedThing obsolete Congenital visual impairment hp0009lx5z HP:0000505 True owl:Class UBERON:0001604 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008340 biolink:NamedThing hp0009lx5z owl:Class HP:0002631 biolink:NamedThing obsolete Dilatation of ascending aorta hp0009lx5z HP:0002616 True owl:Class PATO:0001857 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001447 biolink:NamedThing hp0009lx5z owl:Class HP:0410032 biolink:NamedThing obsolete Cleft of uvula hp0009lx5z HP:0000193 True owl:Class UBERON:0002298 biolink:NamedThing hp0009lx5z owl:Class HP:0410387 biolink:NamedThing obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells hp0009lx5z HP_0025624 This term was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5696 True owl:Class UBERON:0001445 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004470 biolink:NamedThing hp0009lx5z owl:Class HP:0033276 biolink:NamedThing obsolete Glomerular endocapillary hypercellularity hp0009lx5z 2020-11-28 16:29:10+00:00 peter True owl:Class UBERON:0000310 biolink:NamedThing hp0009lx5z owl:Class PR:000009054 biolink:NamedThing hp0009lx5z owl:Class HP:0007712 biolink:NamedThing obsolete Choroidal dystrophy hp0009lx5z HP:0001135 True owl:Class HP:0200099 biolink:NamedThing obsolete Peripheral retinal pigmentation abnormalities hp0009lx5z HP:0007703 sebastiankohler 2013-06-05T10:24:46Z True owl:Class CHEBI:18186 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16990 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000163 biolink:NamedThing hp0009lx5z owl:Class CHEBI:37527 biolink:NamedThing hp0009lx5z owl:Class GO:0006094 biolink:NamedThing hp0009lx5z owl:Class HP:0007981 biolink:NamedThing obsolete Concentric narrowing of visual field hp0009lx5z HP:0001133 True owl:Class HP:0002564 biolink:NamedThing obsolete Malformation of the heart and great vessels hp0009lx5z HP:0030680 True owl:Class HP:0410382 biolink:NamedThing obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells hp0009lx5z This term was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5696 True owl:Class UBERON:0002397 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004382 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001021 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000054 biolink:NamedThing hp0009lx5z owl:Class HP:0005379 biolink:NamedThing obsolete Severe T lymphocytopenia hp0009lx5z HP:0005403 True owl:Class PATO:0000700 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004463 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007722 biolink:NamedThing hp0009lx5z owl:Class HP:0004138 biolink:NamedThing obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger hp0009lx5z HP:0009541 True owl:Class GO:0050890 biolink:NamedThing hp0009lx5z owl:Class HP:0007920 biolink:NamedThing obsolete Congenital chorioretinal dystrophy hp0009lx5z HP:0001135 True owl:Class HP:0005364 biolink:NamedThing obsolete Severe viral infections hp0009lx5z HP:0004429 True owl:Class GO:0003857 biolink:NamedThing 3-hydroxyacyl-CoA dehydrogenase activity hp0009lx5z owl:Class HP:0001724 biolink:NamedThing obsolete Aortic dilatation hp0009lx5z HP:0004942 True owl:Class UBERON:0016440 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008982 biolink:NamedThing hp0009lx5z owl:Class HP:0004194 biolink:NamedThing obsolete Hypoplastic phalanges of the ring finger hp0009lx5z HP:0009408 True owl:Class UBERON:0002395 biolink:NamedThing hp0009lx5z owl:Class CHEBI:25806 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001956 biolink:NamedThing hp0009lx5z owl:Class HP:0007739 biolink:NamedThing obsolete Mildly reduced visual acuity hp0009lx5z HP:0007663 True owl:Class UBERON:0011602 biolink:NamedThing hp0009lx5z owl:Class PR:000007856 biolink:NamedThing hp0009lx5z owl:Class PATO:0002328 biolink:NamedThing hp0009lx5z owl:Class GO:0006776 biolink:NamedThing hp0009lx5z owl:Class HP:0030523 biolink:NamedThing obsolete Peripheral visual field constriction with 40-50 degrees central field preserved hp0009lx5z HP:0030525 True owl:Class UBERON:0001758 biolink:NamedThing hp0009lx5z owl:Class CHEBI:26333 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001813 biolink:NamedThing hp0009lx5z owl:Class HP:0032695 biolink:NamedThing obsolete Illusory auras hp0009lx5z HP:0012008 peter True owl:Class HP:0011498 biolink:NamedThing obsolete Partial aniridia hp0009lx5z HP:0000526 2012-04-03T07:38:24Z True owl:Class HP:0025621 biolink:NamedThing obsolete Increased proportion of CD4+ central memory cells hp0009lx5z HP_0410393 This was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5695 True owl:Class CHEBI:138675 biolink:NamedThing hp0009lx5z owl:Class HP:0003335 biolink:NamedThing obsolete Low gonadotropins (secondary hypogonadism) hp0009lx5z HP:0000044 True owl:Class UBERON:0016408 biolink:NamedThing hp0009lx5z owl:Class HP:0003494 biolink:NamedThing obsolete Loss of heterozygosity, multiple chromosomes hp0009lx5z HP:0001428 True owl:Class HP:0011148 biolink:NamedThing obsolete Absence seizures with special features hp0009lx5z HP:0002121 2011-10-18T01:56:54Z True owl:Class UBERON:0001224 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016458 biolink:NamedThing hp0009lx5z owl:Class HP:0002109 biolink:NamedThing obsolete Abnormality of the bronchi hp0009lx5z HP:0025426 True owl:Class HP:0003490 biolink:NamedThing obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA hp0009lx5z HP:0003150 True owl:Class HP:0005296 biolink:NamedThing obsolete Occlusive vascular disease hp0009lx5z HP:0004950 True owl:Class HP:0045013 biolink:NamedThing obsolete Decreased urinary glucose concentration hp0009lx5z HP:0011016 True owl:Class UBERON:0008256 biolink:NamedThing hp0009lx5z owl:Class HP:0040048 biolink:NamedThing obsolete Aplasia of the left hemidiaphragm hp0009lx5z HP:0009112 HPO:skoehler True owl:Class dc:description biolink:NamedThing hp0009lx5z owl:AnnotationProperty UBERON:0002396 biolink:NamedThing hp0009lx5z owl:Class HP:0009090 biolink:NamedThing obsolete Facial diplegic appearance hp0009lx5z HP:0001349 True owl:Class PATO:0000319 biolink:NamedThing hp0009lx5z owl:Class GO:0030218 biolink:NamedThing hp0009lx5z owl:Class HP:0100637 biolink:NamedThing obsolete Neoplasia of the nose hp0009lx5z HP:0012720 True owl:Class CL:0000907 biolink:NamedThing hp0009lx5z owl:Class http://orcid.org/0000-0002-5316-1399 biolink:NamedThing hp0009lx5z HP:0200135 biolink:NamedThing obsolete Macrocephaly due to hydrocephalus hp0009lx5z HP:0000256 True owl:Class UBERON:0001598 biolink:NamedThing hp0009lx5z owl:Class HP:0007910 biolink:NamedThing obsolete Nonprogressive congenital retinal dystrophy hp0009lx5z HP:0000556 True owl:Class UBERON:0004384 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010709 biolink:NamedThing hp0009lx5z owl:Class HP:0004929 biolink:NamedThing obsolete Coronary atherosclerosis hp0009lx5z HP:0001677 True owl:Class CHEBI:24867 biolink:NamedThing hp0009lx5z owl:Class HP:0000361 biolink:NamedThing obsolete Pulsatile tinnitus (tympanic paraganglioma) hp0009lx5z HP:0008629 True owl:Class PATO:0001938 biolink:NamedThing hp0009lx5z owl:Class HP:0004153 biolink:NamedThing obsolete Overgrowth of middle finger hp0009lx5z HP:0009316 True owl:Class HP:0007916 biolink:NamedThing obsolete Small anterior lens surface opacities hp0009lx5z HP:0007795 True owl:Class GO:0016477 biolink:NamedThing hp0009lx5z owl:Class HP:0007744 biolink:NamedThing obsolete Iridoretinal coloboma hp0009lx5z HP:0000612 True owl:Class HP:0008033 biolink:NamedThing obsolete Congenital exotropia hp0009lx5z HP:0000577 True owl:Class UBERON:0001676 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013768 biolink:NamedThing hp0009lx5z owl:Class GO:0046651 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000977 biolink:NamedThing hp0009lx5z owl:Class HP:0007757 biolink:NamedThing obsolete Hypoplasia of choroid hp0009lx5z HP:0000610 True owl:Class UBERON:0000474 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004122 biolink:NamedThing hp0009lx5z owl:Class HP:0006436 biolink:NamedThing obsolete Shortening of the tibia hp0009lx5z HP:0005736 True human_phenotype owl:Class HP:0000284 biolink:NamedThing obsolete Abnormality of the ocular region hp0009lx5z HP:0000315 True owl:Class UBERON:0000019 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001728 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002489 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014672 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001648 biolink:NamedThing hp0009lx5z owl:Class CL:0000236 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001183 biolink:NamedThing hp0009lx5z owl:Class HP:0007095 biolink:NamedThing obsolete Frontoparietal polymicrogyria hp0009lx5z HP:0012650 True owl:Class UBERON:0008867 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001089 biolink:NamedThing hp0009lx5z owl:Class HP:0041158 biolink:NamedThing obsolete Fractured trunk hp0009lx5z HP:0020110 True owl:Class CHEBI:41865 biolink:NamedThing hp0009lx5z owl:Class NBO:0000389 biolink:NamedThing hp0009lx5z owl:Class HP:0004192 biolink:NamedThing obsolete Bracket epiphyses of the 4th finger hp0009lx5z HP:0009394 True owl:Class UBERON:0006674 biolink:NamedThing hp0009lx5z owl:Class GO:0009069 biolink:NamedThing hp0009lx5z owl:Class PATO:0000639 biolink:NamedThing hp0009lx5z owl:Class NBO:0000515 biolink:NamedThing hp0009lx5z owl:Class HP:0007825 biolink:NamedThing obsolete Cataracts develop in second or third decade hp0009lx5z HP:0000518 True owl:Class PATO:0001511 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001631 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004367 biolink:NamedThing hp0009lx5z owl:Class HP:0007409 biolink:NamedThing obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs hp0009lx5z HP:0003758 True owl:Class NBO:0000003 biolink:NamedThing hp0009lx5z owl:Class HP:0005901 biolink:NamedThing obsolete Chronic recurrent multifocal osteomyelitis hp0009lx5z HP:0002754 True owl:Class UBERON:0003622 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003466 biolink:NamedThing hp0009lx5z owl:Class HP:0004083 biolink:NamedThing obsolete Laterally deviated terminal thumb phalanx hp0009lx5z HP:0005895 True owl:Class NBO:0000018 biolink:NamedThing hp0009lx5z owl:Class PATO:0002002 biolink:NamedThing hp0009lx5z owl:Class CL:0000799 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001256 biolink:NamedThing hp0009lx5z owl:Class HP:0009885 biolink:NamedThing obsolete Prenatal short stature hp0009lx5z HP:0001511 True owl:Class HP:0030761 biolink:NamedThing obsolete Renal glomerular fibrosis hp0009lx5z HP:0000096 True owl:Class UBERON:0000948 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001213 biolink:NamedThing hp0009lx5z owl:Class HP:0004110 biolink:NamedThing obsolete Radially deviated index finger phalanges hp0009lx5z HP:0009542 True owl:Class CL:0000542 biolink:NamedThing hp0009lx5z owl:Class OIO:hasOBONamespace biolink:NamedThing has_obo_namespace hp0009lx5z owl:AnnotationProperty UBERON:0004090 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000347 biolink:NamedThing hp0009lx5z owl:Class HP:0030013 biolink:NamedThing obsolete Endometriosis hp0009lx5z HP:0030127 True owl:Class CHEBI:50114 biolink:NamedThing hp0009lx5z owl:Class GO:0050892 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28815 biolink:NamedThing hp0009lx5z owl:Class HP:0004143 biolink:NamedThing obsolete Radially deviated terminal index finger phalanx hp0009lx5z HP:0009542 True owl:Class PATO:0001891 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004085 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004397 biolink:NamedThing hp0009lx5z owl:Class NBO:0000129 biolink:NamedThing hp0009lx5z owl:Class HP:0007829 biolink:NamedThing obsolete Diffuse retinal cone degeneration hp0009lx5z HP:0000546 True owl:Class UBERON:0004621 biolink:NamedThing hp0009lx5z owl:Class OIO:default-namespace biolink:NamedThing hp0009lx5z owl:AnnotationProperty PATO:0001673 biolink:NamedThing hp0009lx5z owl:Class UBERON:0034681 biolink:NamedThing hp0009lx5z owl:Class HP:0003553 biolink:NamedThing obsolete Cellulitis due to immunodeficiency hp0009lx5z HP:0100658 True owl:Class OBO:hp#uk_spelling biolink:NamedThing UK spelling hp0009lx5z HPO:skoehler owl:AnnotationProperty OIO:logical-definition-view-relation biolink:NamedThing logical-definition-view-relation hp0009lx5z owl:AnnotationProperty UBERON:0004392 biolink:NamedThing hp0009lx5z owl:Class CHEBI:24261 biolink:NamedThing hp0009lx5z owl:Class GO:0010960 biolink:NamedThing hp0009lx5z owl:Class HP:0007893 biolink:NamedThing obsolete Progressive retinal degeneration hp0009lx5z True owl:Class PATO:0000632 biolink:NamedThing hp0009lx5z owl:Class HP:0007949 biolink:NamedThing obsolete Progressive macular scarring hp0009lx5z True owl:Class UBERON:0014502 biolink:NamedThing hp0009lx5z owl:Class HP:0008024 biolink:NamedThing obsolete Congenital nuclear cataract hp0009lx5z HP:0100018 True owl:Class UBERON:0002378 biolink:NamedThing hp0009lx5z owl:Class CHEBI:70959 biolink:NamedThing hp0009lx5z owl:Class PATO:0000502 biolink:NamedThing hp0009lx5z owl:Class HP:0007808 biolink:NamedThing obsolete Bilateral retinal coloboma hp0009lx5z HP:0000480 True owl:Class HP:0001379 biolink:NamedThing obsolete Degenerative joint disease hp0009lx5z HP:0002758 True owl:Class HP:0100805 biolink:NamedThing obsolete Precocious menopause hp0009lx5z True owl:Class UBERON:0008196 biolink:NamedThing hp0009lx5z owl:Class HP:0006877 biolink:NamedThing obsolete Mental retardation, in some hp0009lx5z HP:0001249 True owl:Class PATO:0001875 biolink:NamedThing hp0009lx5z owl:Class PATO:0001948 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011265 biolink:NamedThing hp0009lx5z owl:Class HP:0004367 biolink:NamedThing obsolete Abnormality of glycoprotein metabolism hp0009lx5z HP:0001939 True owl:Class UBERON:0001969 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001245 biolink:NamedThing hp0009lx5z owl:Class NBO:0000313 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000012 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006692 biolink:NamedThing hp0009lx5z owl:Class PATO:0001646 biolink:NamedThing hp0009lx5z owl:Class GO:0040007 biolink:NamedThing hp0009lx5z owl:Class HP:0004168 biolink:NamedThing obsolete Radially pointed proximal middle-finger phalanx hp0009lx5z HP:0009316 True owl:Class HP:0007597 biolink:NamedThing obsolete Congenital palmoplantar keratodermia hp0009lx5z HP:0007545 True owl:Class PATO:0000628 biolink:NamedThing hp0009lx5z owl:Class OBO:hp#secondary_consequence biolink:NamedThing hp0009lx5z Consequence of a disorder in another organ system. owl:AnnotationProperty HP:0007748 biolink:NamedThing obsolete Irido-fundal coloboma hp0009lx5z HP:0000612 True owl:Class PATO:0000389 biolink:NamedThing hp0009lx5z owl:Class MPATH:70 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018607 biolink:NamedThing hp0009lx5z owl:Class HP:0002924 biolink:NamedThing obsolete Decreased circulating aldosterone level hp0009lx5z HP:0004319 True owl:Class HP:0002271 biolink:NamedThing obsolete Autonomic dysregulation hp0009lx5z HP:0012332 True owl:Class HP:0003295 biolink:NamedThing obsolete Impaired FSH and LH secretion hp0009lx5z HP:0030339 True owl:Class UBERON:0001487 biolink:NamedThing hp0009lx5z owl:Class CHEBI:27266 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014376 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006762 biolink:NamedThing hp0009lx5z owl:Class HP:0000487 biolink:NamedThing obsolete Congenital strabismus hp0009lx5z HP:0000486 True owl:Class UBERON:0001508 biolink:NamedThing hp0009lx5z owl:Class HP:0007654 biolink:NamedThing obsolete Retinal striation hp0009lx5z True owl:Class HP:0001113 biolink:NamedThing obsolete Early cataracts hp0009lx5z HP:0000518 True owl:Class PATO:0000161 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012128 biolink:NamedThing hp0009lx5z owl:Class HP:0007810 biolink:NamedThing obsolete Progressive bifocal chorioretinal atrophy hp0009lx5z HP:0000533 True owl:Class UBERON:0013753 biolink:NamedThing hp0009lx5z owl:Class PATO:0000600 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000042 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001499 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004446 biolink:NamedThing hp0009lx5z owl:Class HP:0005130 biolink:NamedThing obsolete Restrictive heart failure hp0009lx5z HP:0001723 True owl:Class HP:0001226 biolink:NamedThing obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits hp0009lx5z HP:0006121 True owl:Class HP:0006893 biolink:NamedThing obsolete Severely dysplastic cerebellum hp0009lx5z HP:0007033 Use Cerebellar dysplasia (HP:0007033) with the modifier Severe. True owl:Class PATO:0001447 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002217 biolink:NamedThing hp0009lx5z owl:Class HP:0007923 biolink:NamedThing obsolete Foveal hyperplasia hp0009lx5z HP:0000493 True owl:Class HP:0001675 biolink:NamedThing obsolete Rhythm disturbances associated with pheochromocytoma hp0009lx5z HP:0011675 True owl:Class UBERON:0001334 biolink:NamedThing hp0009lx5z owl:Class HP:0005794 biolink:NamedThing obsolete Arterial disease of legs hp0009lx5z HP:0004950 True owl:Class UBERON:0002392 biolink:NamedThing hp0009lx5z owl:Class OBO:hp#obsolete_synonym biolink:NamedThing discarded/obsoleted synonym hp0009lx5z 2018-05-05 19:01:17+00:00 peter owl:AnnotationProperty OIO:SynonymTypeProperty biolink:NamedThing hp0009lx5z owl:AnnotationProperty CL:0002191 biolink:NamedThing hp0009lx5z owl:Class HP:0007869 biolink:NamedThing obsolete Peripheral retinopathy hp0009lx5z True owl:Class CL:0000845 biolink:NamedThing hp0009lx5z owl:Class HP:0040168 biolink:NamedThing obsolete Focal seizures, afebril hp0009lx5z HP:0007359 True owl:Class CL:0000038 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006558 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000964 biolink:NamedThing hp0009lx5z owl:Class HP:0007314 biolink:NamedThing obsolete White matter neuronal heterotopia hp0009lx5z HP:0002282 True owl:Class UBERON:0007723 biolink:NamedThing hp0009lx5z owl:Class HP:0008017 biolink:NamedThing obsolete Depigmented lesions of the retinal pigment epithelium hp0009lx5z HP:0007680 True owl:Class UBERON:0014445 biolink:NamedThing hp0009lx5z owl:Class CHEBI:26986 biolink:NamedThing hp0009lx5z owl:Class PR:P00450 biolink:NamedThing hp0009lx5z owl:Class HP:0040037 biolink:NamedThing obsolete Thin fingernail (obsolete) hp0009lx5z HP:0012742 HPO:skoehler True owl:Class CHEBI:16947 biolink:NamedThing hp0009lx5z owl:Class GO:1903510 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003653 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006863 biolink:NamedThing hp0009lx5z owl:Class HP:0004090 biolink:NamedThing obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis hp0009lx5z HP:0009662 True owl:Class HP:0006504 biolink:NamedThing obsolete Anomaly of the limb diaphyses morphology hp0009lx5z Abnormality of shaft of long bone of the limbs HP:0000940 peter 2008-03-28T06:47:00Z True owl:Class HP:0007316 biolink:NamedThing obsolete Involuntary writhing movements hp0009lx5z HP:0002305 True owl:Class HP:0007087 biolink:NamedThing obsolete Involuntary jerking movements hp0009lx5z HP:0001336 True owl:Class HP:0030971 biolink:NamedThing obsolete Abnormal vena cava morphology hp0009lx5z HP:0005345 True owl:Class GO:0005975 biolink:NamedThing hp0009lx5z owl:Class PATO:0002283 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001528 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004437 biolink:NamedThing hp0009lx5z owl:Class HP:0025121 biolink:NamedThing obsolete Simple partial occipital seizures hp0009lx5z HP:0011165 2016-11-10 11:43:51+00:00 Simple partial occipital seizures is being retired because the clinical manifestations used for seizure classification do not hold true to anatomical landmarks at this level of granularity. An additional dimension based on the anatomical onset of seizures would be too imprecise, and in many instances be incorrect. Whilst clinicians do still talk about a frontal/occipital/temporal/etc. lobe seizure, this is based on assumptions, typical features, or additional EEG or imaging findings. HPO:probinson True owl:Class HP:0002281 biolink:NamedThing obsolete Gray matter heterotopias hp0009lx5z HP:0002282 True owl:Class HP:0005299 biolink:NamedThing obsolete Premature peripheral vascular disease hp0009lx5z HP:0004950 True owl:Class UBERON:0001037 biolink:NamedThing hp0009lx5z owl:Class NBO:0000620 biolink:NamedThing hp0009lx5z owl:Class PATO:0001495 biolink:NamedThing hp0009lx5z owl:Class HP:0002111 biolink:NamedThing obsolete Restrictive deficit on pulmonary function testing hp0009lx5z HP:0002091 True owl:Class HP:0011164 biolink:NamedThing obsolete Vegetative auras hp0009lx5z HP:0011154 peter 2011-10-18T02:30:10Z True owl:Class UBERON:0001894 biolink:NamedThing hp0009lx5z owl:Class GO:0002250 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016464 biolink:NamedThing hp0009lx5z owl:Class GO:0007283 biolink:NamedThing hp0009lx5z owl:Class HP:0012140 biolink:NamedThing obsolete Abnormality of cells of the lymphoid lineage hp0009lx5z HP:0004332 True owl:Class OBO:hp#abbreviation biolink:NamedThing abbreviation hp0009lx5z HPO:skoehler owl:AnnotationProperty UBERON:0002116 biolink:NamedThing hp0009lx5z owl:Class HP:0005744 biolink:NamedThing obsolete Generalized osteoporosis with pathologic fractures hp0009lx5z HP:0040160 True owl:Class PATO:0002403 biolink:NamedThing hp0009lx5z owl:Class HP:0010928 biolink:NamedThing obsolete Increased urinary orotic acid concentration hp0009lx5z HP:0003218 True owl:Class HP:0200126 biolink:NamedThing obsolete Amyloid cardiomyopathy hp0009lx5z HP:0030843 True owl:Class HP:0006541 biolink:NamedThing obsolete Chronic obstructive airway disease from birth hp0009lx5z HP:0006510 True owl:Class UBERON:0001650 biolink:NamedThing hp0009lx5z owl:Class HP:0002845 biolink:NamedThing obsolete Increased proportion of peripheral CD3+ T cells hp0009lx5z HP:0002851 True owl:Class UBERON:0001786 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001724 biolink:NamedThing hp0009lx5z owl:Class GO:0016049 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018408 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000006 biolink:NamedThing hp0009lx5z owl:Class PATO:0001650 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004473 biolink:NamedThing hp0009lx5z owl:Class HP:0004782 biolink:NamedThing obsolete Hypotrichosis of the scalp hp0009lx5z HP:0002209 True owl:Class CHEBI:24431 biolink:NamedThing hp0009lx5z owl:Class PATO:0001609 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001028 biolink:NamedThing hp0009lx5z owl:Class PATO:0000619 biolink:NamedThing hp0009lx5z owl:Class CHEBI:47775 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003638 biolink:NamedThing hp0009lx5z owl:Class HP:0004355 biolink:NamedThing obsolete Abnormality of proteoglycan metabolism hp0009lx5z HP:0001939 2008-03-17T01:12:00Z True owl:Class UBERON:0007156 biolink:NamedThing hp0009lx5z owl:Class PATO:0001779 biolink:NamedThing hp0009lx5z owl:Class CL:0002319 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000159 biolink:NamedThing hp0009lx5z owl:Class PATO:0001824 biolink:NamedThing hp0009lx5z owl:Class HP:0000833 biolink:NamedThing obsolete Glucose intolerance hp0009lx5z HP:0001952 True owl:Class PATO:0001470 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004098 biolink:NamedThing hp0009lx5z owl:Class CL:0000232 biolink:NamedThing hp0009lx5z owl:Class HP:0030960 biolink:NamedThing obsolete Abnormal pupillary morphology hp0009lx5z HP:0000615 True owl:Class HP:0011765 biolink:NamedThing obsolete Ectopic anterior pituitary hp0009lx5z HP:0012731 True owl:Class UBERON:0001094 biolink:NamedThing hp0009lx5z owl:Class GO:0007268 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002377 biolink:NamedThing hp0009lx5z owl:Class HP:0005315 biolink:NamedThing obsolete Peripheral artery occlusive disease hp0009lx5z HP:0004950 True owl:Class HP:0031698 biolink:NamedThing obsolete Disseminated Bacillus Calmette-Guerin infection Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. hp0009lx5z HP:0020087 2017-12-17 22:43:27+00:00 peter True owl:Class CHEBI:16827 biolink:NamedThing hp0009lx5z owl:Class HP:0002229 biolink:NamedThing obsolete Alopecia areata hp0009lx5z HP:0002232 True owl:Class HP:0011349 biolink:NamedThing obsolete Abducens palsy hp0009lx5z HP:0006897 peter 2012-03-01T10:30:20Z True owl:Class UBERON:0004807 biolink:NamedThing hp0009lx5z owl:Class HP:0005298 biolink:NamedThing obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia hp0009lx5z HP:0006695 True owl:Class HP:0001002 biolink:NamedThing obsolete Decreased subcutaneous fat hp0009lx5z HP:0003758 True owl:Class UBERON:0004099 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001280 biolink:NamedThing hp0009lx5z owl:Class HP:0001575 biolink:NamedThing obsolete Mood changes hp0009lx5z HP:0000712 True owl:Class UBERON:0010222 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004103 biolink:NamedThing hp0009lx5z owl:Class HP:0025622 biolink:NamedThing obsolete Decreased proportion of CD4+ central memory cells hp0009lx5z HP:0410388 Term was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5695 True owl:Class HP:0012291 biolink:NamedThing obsolete Tracheal neoplasm hp0009lx5z HP:0100551 peter 2013-04-11T05:49:21Z True owl:Class PATO:0040041 biolink:NamedThing hp0009lx5z owl:Class PATO:0002118 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003101 biolink:NamedThing hp0009lx5z owl:Class GO:0032098 biolink:NamedThing hp0009lx5z owl:Class PATO:0040034 biolink:NamedThing hp0009lx5z owl:Class PATO:0001921 biolink:NamedThing hp0009lx5z owl:Class HP:0100609 biolink:NamedThing obsolete Hypermenorrhea hp0009lx5z HP:0000132 True owl:Class HP:0007901 biolink:NamedThing obsolete Retinal malformation hp0009lx5z HP:0000479 True owl:Class UBERON:0010953 biolink:NamedThing hp0009lx5z owl:Class NBO:0000120 biolink:NamedThing hp0009lx5z owl:Class HP:0007956 biolink:NamedThing obsolete Bilateral choroid coloboma hp0009lx5z HP:0000567 True owl:Class UBERON:0011110 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004104 biolink:NamedThing hp0009lx5z owl:Class GO:0006687 biolink:NamedThing hp0009lx5z owl:Class HP:0040199 biolink:NamedThing obsolete Flat midface hp0009lx5z HP:0011800 True owl:Class PATO:0001955 biolink:NamedThing hp0009lx5z owl:Class HP:0004201 biolink:NamedThing obsolete Expanded proximal phalanx of the ring finger hp0009lx5z HP:0009310 True owl:Class UBERON:0003866 biolink:NamedThing hp0009lx5z owl:Class HP:0005402 biolink:NamedThing obsolete Primary T-lymphocyte immune abnormalities hp0009lx5z HP:0011840 True owl:Class HP:0000547 biolink:NamedThing obsolete Tapetoretinal degeneration hp0009lx5z Retinotapetal degeneration HP:0000510 True owl:Class HP:0012374 biolink:NamedThing obsolete Abnormal globe morphology hp0009lx5z HP:0012372 True owl:Class UBERON:0016453 biolink:NamedThing hp0009lx5z owl:Class GO:0031424 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003649 biolink:NamedThing hp0009lx5z owl:Class HP:0009620 biolink:NamedThing obsolete Radial deviation of the thumb hp0009lx5z HP:0009602 True owl:Class CHEBI:18095 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002132 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002414 biolink:NamedThing hp0009lx5z owl:Class HP:0025541 biolink:NamedThing obsolete Decreased activity of complement receptor hp0009lx5z HP:0005339 HPO:probinson True owl:Class HP:0007852 biolink:NamedThing obsolete Pericentral pigmentary retinopathy hp0009lx5z HP:0000580 True owl:Class HP:0001400 biolink:NamedThing obsolete Hepatic abscesses due to immunodeficiency hp0009lx5z HP:0100523 True owl:Class CHEBI:28050 biolink:NamedThing hp0009lx5z owl:Class HP:0000611 biolink:NamedThing obsolete Choroid coloboma hp0009lx5z HP:0000567 True owl:Class HP:0004760 biolink:NamedThing obsolete Congenital septal defect hp0009lx5z HP:0001671 True owl:Class UBERON:0001874 biolink:NamedThing hp0009lx5z owl:Class HP:0007713 biolink:NamedThing obsolete Juvenile zonular cataracts hp0009lx5z HP:0010920 True owl:Class UBERON:0004454 biolink:NamedThing hp0009lx5z owl:Class PATO:0001167 biolink:NamedThing hp0009lx5z owl:Class MPATH:27 biolink:NamedThing hp0009lx5z owl:Class HP:0003114 biolink:NamedThing obsolete Abnormal cardiological findings hp0009lx5z HP:0001626 True owl:Class GO:0071754 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18408 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001712 biolink:NamedThing hp0009lx5z owl:Class HP:0032117 biolink:NamedThing obsolete Macrosaccadic oscillation hp0009lx5z HP:0032105 True owl:Class PATO:0000405 biolink:NamedThing hp0009lx5z owl:Class CL:0000019 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001801 biolink:NamedThing hp0009lx5z owl:Class GO:0120054 biolink:NamedThing hp0009lx5z owl:Class PATO:0000634 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001437 biolink:NamedThing hp0009lx5z owl:Class CHEBI:37397 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001895 biolink:NamedThing hp0009lx5z owl:Class CL:0000980 biolink:NamedThing hp0009lx5z owl:Class GO:0001676 biolink:NamedThing hp0009lx5z owl:Class GO:0001843 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001771 biolink:NamedThing hp0009lx5z owl:Class OIO:inSubset biolink:NamedThing in_subset hp0009lx5z owl:AnnotationProperty HP:0031477 biolink:NamedThing obsolete Abnormal mitral valve morphology hp0009lx5z HP:0001633 True owl:Class OIO:hasAlternativeId biolink:NamedThing has_alternative_id hp0009lx5z owl:AnnotationProperty CHEBI:26271 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010365 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001581 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18240 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003037 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003216 biolink:NamedThing hp0009lx5z owl:Class HP:0031988 biolink:NamedThing obsolete Muscle spasm hp0009lx5z HP:0003394 True owl:Class NBO:0000032 biolink:NamedThing hp0009lx5z owl:Class HP:0009621 biolink:NamedThing obsolete Ulnar deviation of the thumb hp0009lx5z HP:0009602 True owl:Class CL:0000066 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001834 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001752 biolink:NamedThing hp0009lx5z owl:Class NBO:0000248 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007759 biolink:NamedThing hp0009lx5z owl:Class HP:0004187 biolink:NamedThing obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger hp0009lx5z HP:0009316 True owl:Class PATO:0002044 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001448 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001008 biolink:NamedThing hp0009lx5z owl:Class CHEBI:30411 biolink:NamedThing hp0009lx5z owl:Class HP:0031902 biolink:NamedThing obsolete Decreased serum mast cell beta-tryptase concentration hp0009lx5z 2018-05-19 15:17:42+00:00 Clinically, there is no abnormal reduction in tryptase activity and thus this term was incorrect and should not be used. HP:0031901 peter True owl:Class GO:0006551 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014439 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000947 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009567 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018608 biolink:NamedThing hp0009lx5z owl:Class HP:0040038 biolink:NamedThing obsolete Thin toenail hp0009lx5z HP:0012746 HPO:skoehler True owl:Class HP:0003421 biolink:NamedThing obsolete Platyspondyly (childhood) hp0009lx5z HP:0000926 True owl:Class GO:0006547 biolink:NamedThing hp0009lx5z owl:Class PATO:0000688 biolink:NamedThing hp0009lx5z owl:Class CL:0000904 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000178 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003129 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006322 biolink:NamedThing hp0009lx5z owl:Class NBO:0000598 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000007 biolink:NamedThing hp0009lx5z owl:Class dc:rights biolink:NamedThing hp0009lx5z owl:AnnotationProperty GO:0042593 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006822 biolink:NamedThing hp0009lx5z owl:Class GO:0030282 biolink:NamedThing hp0009lx5z owl:Class HP:0004161 biolink:NamedThing obsolete Periosteal new bone of middle finger phalanges hp0009lx5z HP:0009316 True owl:Class UBERON:0000941 biolink:NamedThing hp0009lx5z owl:Class PATO:0001468 biolink:NamedThing hp0009lx5z owl:Class PATO:0002287 biolink:NamedThing hp0009lx5z owl:Class PATO:0001872 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004475 biolink:NamedThing hp0009lx5z owl:Class CL:0000835 biolink:NamedThing hp0009lx5z owl:Class PATO:0002270 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001779 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011566 biolink:NamedThing hp0009lx5z owl:Class MPATH:198 biolink:NamedThing hp0009lx5z owl:Class HP:0004193 biolink:NamedThing obsolete Expanded phalanges of the ring finger hp0009lx5z HP:0009172 True owl:Class UBERON:0004336 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008788 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001766 biolink:NamedThing hp0009lx5z owl:Class CHEBI:27363 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001300 biolink:NamedThing hp0009lx5z owl:Class PATO:0000574 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004681 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001435 biolink:NamedThing hp0009lx5z owl:Class HP:0005173 biolink:NamedThing obsolete Calcific aortic valve stenosis hp0009lx5z HP:0004380 True owl:Class GO:0006534 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014542 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016422 biolink:NamedThing hp0009lx5z owl:Class dc:date biolink:NamedThing hp0009lx5z owl:AnnotationProperty PATO:0001874 biolink:NamedThing hp0009lx5z owl:Class CL:0000813 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001464 biolink:NamedThing hp0009lx5z owl:Class GO:0006570 biolink:NamedThing hp0009lx5z owl:Class HP:0012336 biolink:NamedThing obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration hp0009lx5z HP:0012446 peter 2013-09-13T08:39:17Z True owl:Class UBERON:0004657 biolink:NamedThing hp0009lx5z owl:Class HP:0007698 biolink:NamedThing obsolete Retinal pigment epithelial atrophy hp0009lx5z True owl:Class PATO:0000060 biolink:NamedThing hp0009lx5z owl:Class CL:0000235 biolink:NamedThing hp0009lx5z owl:Class NBO:0000648 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001797 biolink:NamedThing hp0009lx5z owl:Class HP:0007798 biolink:NamedThing obsolete Foveal dystrophy hp0009lx5z HP:0000493 True owl:Class PATO:0001801 biolink:NamedThing hp0009lx5z owl:Class GO:0055080 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001868 biolink:NamedThing hp0009lx5z owl:Class CL:0000766 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001688 biolink:NamedThing hp0009lx5z owl:Class PATO:0001499 biolink:NamedThing hp0009lx5z owl:Class HP:0004066 biolink:NamedThing obsolete Laterally deviated thumb phalanges hp0009lx5z HP:0009602 True owl:Class UBERON:0001450 biolink:NamedThing hp0009lx5z owl:Class HP:0032931 biolink:NamedThing obsolete Focal impaired awareness cognitive seizure with impaired attention hp0009lx5z HP:0032756 peter True owl:Class CL:0000970 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002370 biolink:NamedThing hp0009lx5z owl:Class PR:000003964 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016466 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17368 biolink:NamedThing hp0009lx5z owl:Class HP:0032703 biolink:NamedThing obsolete Hallucinatory aura hp0009lx5z HP:0012007 peter True owl:Class HP:0007691 biolink:NamedThing obsolete Short curly eyelashes hp0009lx5z HP:0010764|HP:0007665 True owl:Class HP:0030332 biolink:NamedThing obsolete Abnormal T cell morphology hp0009lx5z HP:0002843 True owl:Class UBERON:0035139 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007119 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004088 biolink:NamedThing hp0009lx5z owl:Class MPATH:124 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001647 biolink:NamedThing hp0009lx5z owl:Class GO:0001503 biolink:NamedThing hp0009lx5z owl:Class PATO:0040043 biolink:NamedThing hp0009lx5z owl:Class NBO:0000651 biolink:NamedThing hp0009lx5z owl:Class GO:0045728 biolink:NamedThing hp0009lx5z owl:Class HP:0001006 biolink:NamedThing obsolete Hypotrichosis hp0009lx5z HP:0008070 True owl:Class UBERON:0001723 biolink:NamedThing hp0009lx5z owl:Class PATO:0002039 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17347 biolink:NamedThing hp0009lx5z owl:Class GO:0009790 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018226 biolink:NamedThing hp0009lx5z owl:Class GO:0071739 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17002 biolink:NamedThing hp0009lx5z owl:Class HP:0004144 biolink:NamedThing obsolete Duplication of terminal index finger phalanx hp0009lx5z HP:0009948 True owl:Class PATO:0001847 biolink:NamedThing hp0009lx5z owl:Class GO:0001659 biolink:NamedThing hp0009lx5z owl:Class HP:0200095 biolink:NamedThing obsolete Anterior open bite hp0009lx5z HP:0009102 sebastiankohler 2013-06-04T03:04:56Z True owl:Class GO:0030432 biolink:NamedThing hp0009lx5z owl:Class HP:0004162 biolink:NamedThing obsolete Radially pointed middle finger phalanges hp0009lx5z HP:0009316 True owl:Class UBERON:0001757 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018551 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002421 biolink:NamedThing hp0009lx5z owl:Class HP:0030422 biolink:NamedThing obsolete Papillary cystadenoma of the epididymis hp0009lx5z HP:0009715 True owl:Class PATO:0000396 biolink:NamedThing hp0009lx5z owl:Class PR:000013246 biolink:NamedThing hp0009lx5z owl:Class HP:0005921 biolink:NamedThing obsolete Abnormal ossification of hand bones hp0009lx5z HP:0010660 True owl:Class UBERON:0001204 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002037 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012318 biolink:NamedThing hp0009lx5z owl:Class HP:0030073 biolink:NamedThing obsolete Pharyngeal neoplasm hp0009lx5z HP:0100638 True owl:Class HP:0032875 biolink:NamedThing obsolete Focal impaired awareness cognitive seizure with impaired responsiveness hp0009lx5z HP:0032756 peter True owl:Class HP:0004139 biolink:NamedThing obsolete Flared metaphysis of middle phalanx of index finger hp0009lx5z HP:0009569 True owl:Class UBERON:0003648 biolink:NamedThing hp0009lx5z owl:Class GO:0070227 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001980 biolink:NamedThing hp0009lx5z owl:Class HP:0040180 biolink:NamedThing obsolete Hyperkeratosis pilaris hp0009lx5z HP:0032152 HPO:skoehler True owl:Class UBERON:0017672 biolink:NamedThing hp0009lx5z owl:Class OIO:creation_date biolink:NamedThing hp0009lx5z owl:AnnotationProperty NBO:0000417 biolink:NamedThing hp0009lx5z owl:Class HP:0007163 biolink:NamedThing obsolete Corticospinal tract disease in lower limbs hp0009lx5z HP:0007256 True owl:Class PATO:0002112 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003699 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010234 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002412 biolink:NamedThing hp0009lx5z owl:Class PATO:0000381 biolink:NamedThing hp0009lx5z owl:Class HP:0004954 biolink:NamedThing obsolete Dilatation of the descending aorta hp0009lx5z HP:0004959 True owl:Class HP:0007519 biolink:NamedThing obsolete Lack of subcutaneous fatty tissue hp0009lx5z HP:0007485 True owl:Class PATO:0000320 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001173 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016446 biolink:NamedThing hp0009lx5z owl:Class HP:0001011 biolink:NamedThing obsolete Diaphoresis (with pheochromocytoma) hp0009lx5z HP:0000975 True owl:Class MAXO:0010314 biolink:NamedThing hp0009lx5z PATO:0002042 biolink:NamedThing hp0009lx5z owl:Class GO:0001764 biolink:NamedThing hp0009lx5z owl:Class HP:0008335 biolink:NamedThing obsolete Renal aminoaciduria hp0009lx5z HP:0003355 True UMLS:C0002534|MSH:D000608 owl:Class CHEBI:68641 biolink:NamedThing hp0009lx5z owl:Class PATO:0000025 biolink:NamedThing hp0009lx5z owl:Class HP:0030152 biolink:NamedThing obsolete Biliary tract neoplasm hp0009lx5z HP:0100574 True owl:Class HP:0008051 biolink:NamedThing obsolete Abnormality of the retinal pigment epithelium hp0009lx5z HP:0007703 True owl:Class HP:0005397 biolink:NamedThing obsolete Exaggerated cellular immune processes hp0009lx5z HP:0011840 True owl:Class HP:0008230 biolink:NamedThing obsolete Decreased testosterone in males hp0009lx5z HP:0040171 HPO:skoehler True owl:Class PATO:0002165 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006657 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28694 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003687 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16024 biolink:NamedThing hp0009lx5z owl:Class HP:0007702 biolink:NamedThing obsolete Pigmentary retinal deposits hp0009lx5z HP:0000580 True owl:Class HP:0001146 biolink:NamedThing obsolete Pigmentary retinal degeneration hp0009lx5z HP:0000580 True owl:Class HP:0001613 biolink:NamedThing obsolete Hoarse voice (caused by tumor impingement) hp0009lx5z HP:0001609 True owl:Class CL:0000121 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000996 biolink:NamedThing hp0009lx5z owl:Class PATO:0001594 biolink:NamedThing hp0009lx5z owl:Class PATO:0000944 biolink:NamedThing hp0009lx5z owl:Class PATO:0001482 biolink:NamedThing hp0009lx5z owl:Class CHEBI:30660 biolink:NamedThing hp0009lx5z owl:Class HP:0011607 biolink:NamedThing obsolete Transposition of the great arteries with ventricular septal defect hp0009lx5z HP:0001669 True owl:Class PATO:0001571 biolink:NamedThing hp0009lx5z owl:Class HP:0010700 biolink:NamedThing obsolete Total cataract hp0009lx5z HP:0000518 True owl:Class HP:0008008 biolink:NamedThing obsolete Progressive central visual loss hp0009lx5z True owl:Class PATO:0000643 biolink:NamedThing hp0009lx5z owl:Class GO:0006801 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18139 biolink:NamedThing hp0009lx5z owl:Class HP:0001587 biolink:NamedThing obsolete Primary ovarian failure hp0009lx5z True owl:Class GO:0003014 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016476 biolink:NamedThing hp0009lx5z owl:Class GO:0006568 biolink:NamedThing hp0009lx5z owl:Class CHEBI:26216 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001603 biolink:NamedThing hp0009lx5z owl:Class HsapDv:0000083 biolink:NamedThing hp0009lx5z owl:Class GO:0006487 biolink:NamedThing hp0009lx5z owl:Class HP:0002773 biolink:NamedThing obsolete Small vertebral bodies hp0009lx5z HP:0008479 True owl:Class PATO:0000651 biolink:NamedThing hp0009lx5z owl:Class HP:3000001 biolink:NamedThing obsolete Abnormal heart morphology hp0009lx5z HP:0001627 True owl:Class HP:0032697 biolink:NamedThing obsolete Focal cognitive seizure with deja vu/jamais vu A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. hp0009lx5z HP:0012004 peter True owl:Class HP:0004121 biolink:NamedThing obsolete Radially displaced proximal index finger phalanx hp0009lx5z HP:0009544 True owl:Class UBERON:0011932 biolink:NamedThing hp0009lx5z owl:Class HP:0001145 biolink:NamedThing obsolete Chorioretinopathy hp0009lx5z HP:0000532 True owl:Class PATO:0001829 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16958 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28260 biolink:NamedThing hp0009lx5z owl:Class HP:0100843 biolink:NamedThing obsolete Glioblastoma hp0009lx5z HP:0012174 2011-06-09T06:47:23Z True owl:Class UBERON:0001775 biolink:NamedThing hp0009lx5z owl:Class PATO:0001354 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001732 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18243 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001078 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001630 biolink:NamedThing hp0009lx5z owl:Class PATO:0000001 biolink:NamedThing hp0009lx5z owl:Class HP:0040290 biolink:NamedThing obsolete Abnormality of skeletal muscles hp0009lx5z True owl:Class UBERON:0001067 biolink:NamedThing hp0009lx5z owl:Class GO:1903509 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17151 biolink:NamedThing hp0009lx5z owl:Class HP:0031440 biolink:NamedThing obsolete Abnormal tricuspid valve morphology hp0009lx5z HP:0001702 True owl:Class UBERON:0001466 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007118 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16541 biolink:NamedThing hp0009lx5z owl:Class HP:0041161 biolink:NamedThing obsolete Fractured pelvic region of trunk hp0009lx5z HP:0020110 True owl:Class UBERON:0001042 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018601 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001772 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001567 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014385 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003100 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004396 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001640 biolink:NamedThing hp0009lx5z owl:Class GO:0019230 biolink:NamedThing hp0009lx5z owl:Class MPATH:120 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009002 biolink:NamedThing hp0009lx5z owl:Class CHEBI:68566 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011273 biolink:NamedThing hp0009lx5z owl:Class GO:0006954 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014437 biolink:NamedThing hp0009lx5z owl:Class HP:0001676 biolink:NamedThing obsolete Palpitations (with pheochromocytoma) hp0009lx5z HP:0001962 True owl:Class HP:0010221 biolink:NamedThing obsolete Pseudoepiphysis of the 2nd metacarpal hp0009lx5z HP:0006179 True owl:Class PATO:0001548 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002352 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001068 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28875 biolink:NamedThing hp0009lx5z owl:Class GO:0006096 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003338 biolink:NamedThing hp0009lx5z owl:Class PATO:0001910 biolink:NamedThing hp0009lx5z owl:Class HP:0005549 biolink:NamedThing obsolete Congenital neutropenia hp0009lx5z This term was obsoleted - for annotation of congenital neutropenia, please use the class HP_0001875 Neutropenia and the Modifier Congenital Onset. HP:0001875 True owl:Class PATO:0002175 biolink:NamedThing hp0009lx5z owl:Class HP:0005409 biolink:NamedThing obsolete Markedly reduced T cell function hp0009lx5z HP:0005435 True owl:Class UBERON:0002331 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003725 biolink:NamedThing hp0009lx5z owl:Class PATO:0002297 biolink:NamedThing hp0009lx5z owl:Class HP:0009044 biolink:NamedThing obsolete Hypoplasia of deltoid muscle hp0009lx5z HP:0030241 True owl:Class UBERON:0002428 biolink:NamedThing hp0009lx5z owl:Class MAXO:0010356 biolink:NamedThing hp0009lx5z HP:0033463 biolink:NamedThing obsolete Elevated circulating palmitoleylcarnitine concentration hp0009lx5z HP:0031544 2021-01-09 22:30:56+00:00 peter True owl:Class CHEBI:50699 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000323 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002492 biolink:NamedThing hp0009lx5z owl:Class GO:0055074 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000988 biolink:NamedThing hp0009lx5z owl:Class NBO:0000677 biolink:NamedThing hp0009lx5z owl:Class PATO:0001602 biolink:NamedThing hp0009lx5z owl:Class PATO:0001476 biolink:NamedThing hp0009lx5z owl:Class GO:0008152 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018552 biolink:NamedThing hp0009lx5z owl:Class GO:0051341 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010425 biolink:NamedThing hp0009lx5z owl:Class CHEBI:23981 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002234 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002358 biolink:NamedThing hp0009lx5z owl:Class HP:0007801 biolink:NamedThing obsolete Fishnet retinal pigmentation hp0009lx5z HP:0007703 True owl:Class HP:0004174 biolink:NamedThing obsolete Accessory middle phalanx of middle finger hp0009lx5z HP:0009963 True owl:Class PATO:0002143 biolink:NamedThing hp0009lx5z owl:Class CHEBI:86508 biolink:NamedThing hp0009lx5z owl:Class HP:0030963 biolink:NamedThing obsolete Abnormal aortic morphology hp0009lx5z HP:0001679 True owl:Class HP:0007876 biolink:NamedThing obsolete Juvenile cortical cataract hp0009lx5z HP:0100019 True owl:Class CL:0000556 biolink:NamedThing hp0009lx5z owl:Class CHEBI:26214 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002265 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006801 biolink:NamedThing hp0009lx5z owl:Class CL:0000891 biolink:NamedThing hp0009lx5z owl:Class CHEBI:24621 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17126 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17754 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010688 biolink:NamedThing hp0009lx5z owl:Class HP:0200144 biolink:NamedThing obsolete Anaphylactoid purpura hp0009lx5z HP:0000979 True owl:Class UBERON:0006003 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004714 biolink:NamedThing hp0009lx5z owl:Class PATO:0001698 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007798 biolink:NamedThing hp0009lx5z owl:Class HP:0001380 biolink:NamedThing obsolete Ligamentous laxity hp0009lx5z HP:0001388 True owl:Class GO:0002185 biolink:NamedThing hp0009lx5z owl:Class PR:000008175 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18101 biolink:NamedThing hp0009lx5z owl:Class PATO:0000618 biolink:NamedThing hp0009lx5z owl:Class PATO:0000573 biolink:NamedThing hp0009lx5z owl:Class IAO:0100001 biolink:NamedThing term replaced by hp0009lx5z owl:AnnotationProperty UBERON:0014881 biolink:NamedThing hp0009lx5z owl:Class HP:0002622 biolink:NamedThing obsolete Dissecting aortic dilatation hp0009lx5z HP:0002647 True owl:Class NBO:0000739 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016425 biolink:NamedThing hp0009lx5z owl:Class CL:0000129 biolink:NamedThing hp0009lx5z owl:Class PATO:0000646 biolink:NamedThing hp0009lx5z owl:Class HP:0032461 biolink:NamedThing obsolete Tiger-tail banding hp0009lx5z HP:0045055 True owl:Class PATO:0001019 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004318 biolink:NamedThing hp0009lx5z owl:Class CHEBI:33942 biolink:NamedThing hp0009lx5z owl:Class HsapDv:0000092 biolink:NamedThing hp0009lx5z owl:Class GO:0042592 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002017 biolink:NamedThing hp0009lx5z owl:Class PATO:0002155 biolink:NamedThing hp0009lx5z owl:Class HsapDv:0000087 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001663 biolink:NamedThing hp0009lx5z owl:Class PR:000017364 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004474 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001070 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001535 biolink:NamedThing hp0009lx5z owl:Class OIO:hasExactSynonym biolink:NamedThing has_exact_synonym hp0009lx5z owl:AnnotationProperty UBERON:0001573 biolink:NamedThing hp0009lx5z owl:Class CHEBI:33709 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17196 biolink:NamedThing hp0009lx5z owl:Class GO:0045136 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003839 biolink:NamedThing hp0009lx5z owl:Class GO:0006783 biolink:NamedThing hp0009lx5z owl:Class HP:0011357 biolink:NamedThing obsolete Abnormality of hair density hp0009lx5z HP:0011362 peter 2012-03-01T02:51:40Z True owl:Class HP:0008803 biolink:NamedThing obsolete Narrow sacroiliac notch hp0009lx5z HP:0003375 True owl:Class UBERON:0000311 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010708 biolink:NamedThing hp0009lx5z owl:Class NBO:0000455 biolink:NamedThing hp0009lx5z owl:Class CHEBI:60924 biolink:NamedThing hp0009lx5z owl:Class HP:0004185 biolink:NamedThing obsolete Fused epiphysis of terminal phalanx of the middle finger hp0009lx5z HP:0009316 True owl:Class HP:0500010 biolink:NamedThing obsolete Increased cholesterol esters hp0009lx5z HP:0031211 True owl:Class PATO:0001619 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000975 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004313 biolink:NamedThing hp0009lx5z owl:Class PATO:0001623 biolink:NamedThing hp0009lx5z owl:Class GO:1990770 biolink:NamedThing hp0009lx5z owl:Class CHEBI:29016 biolink:NamedThing hp0009lx5z owl:Class PATO:0000140 biolink:NamedThing hp0009lx5z owl:Class GO:0046543 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014851 biolink:NamedThing hp0009lx5z owl:Class HP:0031005 biolink:NamedThing obsolete Hyperalgesia hp0009lx5z HP:0012534 2017-05-13 20:21:53+00:00 peter True owl:Class UBERON:0004288 biolink:NamedThing hp0009lx5z owl:Class HP:0005848 biolink:NamedThing obsolete Bifid thumb distal phalanx hp0009lx5z HP:0009611 True owl:Class UBERON:0000423 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010933 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001890 biolink:NamedThing hp0009lx5z owl:Class GO:0005746 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001764 biolink:NamedThing hp0009lx5z owl:Class PATO:0000640 biolink:NamedThing hp0009lx5z owl:Class GO:0004333 biolink:NamedThing hp0009lx5z owl:Class GO:0033559 biolink:NamedThing hp0009lx5z owl:Class HP:0010457 biolink:NamedThing obsolete Widening of the sacrosciatic notch hp0009lx5z HP:0008798 peter 2009-09-15T08:16:32Z True owl:Class MPATH:119 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17376 biolink:NamedThing hp0009lx5z owl:Class HP:0200129 biolink:NamedThing obsolete Calcific mitral stenosis hp0009lx5z HP:0001718 True owl:Class PATO:0000617 biolink:NamedThing hp0009lx5z owl:Class GO:0030183 biolink:NamedThing hp0009lx5z owl:Class HP:0005141 biolink:NamedThing obsolete Episodes of ventricular tachycardia hp0009lx5z HP:0004751 True owl:Class GO:0006631 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001461 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004389 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001891 biolink:NamedThing hp0009lx5z owl:Class HP:0001726 biolink:NamedThing obsolete Increased prevalence of valvular disease hp0009lx5z HP:0001654 True owl:Class UBERON:0001012 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001076 biolink:NamedThing hp0009lx5z owl:Class PATO:0000969 biolink:NamedThing hp0009lx5z owl:Class HP:0045083 biolink:NamedThing obsolete Increased body mass index hp0009lx5z HP:0004324 True owl:Class HP:0006830 biolink:NamedThing obsolete Severe neonatal hypotonia in males hp0009lx5z HP:0001319 True owl:Class UBERON:0006658 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004100 biolink:NamedThing hp0009lx5z owl:Class OIO:saved-by biolink:NamedThing hp0009lx5z owl:AnnotationProperty UBERON:0008200 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003703 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001820 biolink:NamedThing hp0009lx5z owl:Class PR:000023661 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000991 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011918 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000349 biolink:NamedThing hp0009lx5z owl:Class HP:0005834 biolink:NamedThing obsolete Thumbs hypo/aplastic hp0009lx5z HP:0009658 True owl:Class CL:0000898 biolink:NamedThing hp0009lx5z owl:Class PATO:0000599 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010163 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007120 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001469 biolink:NamedThing hp0009lx5z owl:Class GO:0070944 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005366 biolink:NamedThing hp0009lx5z owl:Class PATO:0000625 biolink:NamedThing hp0009lx5z owl:Class PATO:0001507 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009773 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001645 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000922 biolink:NamedThing hp0009lx5z owl:Class HP:0031900 biolink:NamedThing obsolete Abnormal serum tryptase concentration hp0009lx5z HP:0031901 2018-05-19 15:14:54+00:00 peter True owl:Class NBO:0000119 biolink:NamedThing hp0009lx5z owl:Class PATO:0001576 biolink:NamedThing hp0009lx5z owl:Class HP:0004986 biolink:NamedThing obsolete Rudimentary to absent fibulae hp0009lx5z HP:0006381 True owl:Class PATO:0001558 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009552 biolink:NamedThing hp0009lx5z owl:Class CL:0002559 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002133 biolink:NamedThing hp0009lx5z owl:Class MPATH:31 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001174 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004054 biolink:NamedThing hp0009lx5z owl:Class HP:0005111 biolink:NamedThing obsolete Dilatation of the ascending aorta hp0009lx5z HP:0004970 True owl:Class GO:0060464 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002364 biolink:NamedThing hp0009lx5z owl:Class GO:0016234 biolink:NamedThing hp0009lx5z owl:Class MPATH:184 biolink:NamedThing hp0009lx5z owl:Class HP:0007851 biolink:NamedThing obsolete Temporal displacement of maculae hp0009lx5z HP:0001103 True owl:Class UBERON:0008573 biolink:NamedThing hp0009lx5z owl:Class PATO:0001923 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001182 biolink:NamedThing hp0009lx5z owl:Class PR:000003968 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002470 biolink:NamedThing hp0009lx5z owl:Class PATO:0002302 biolink:NamedThing hp0009lx5z owl:Class HP:0003975 biolink:NamedThing obsolete Chevron-shaped/cone-shaped radius hp0009lx5z HP:0004000 True owl:Class UBERON:0001045 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001821 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003654 biolink:NamedThing hp0009lx5z owl:Class GO:0050881 biolink:NamedThing hp0009lx5z owl:Class CHEBI:24148 biolink:NamedThing hp0009lx5z owl:Class HP:0004203 biolink:NamedThing obsolete Short proximal phalanx of the ring finger hp0009lx5z HP:0009300 True owl:Class PATO:0000892 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003646 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002498 biolink:NamedThing hp0009lx5z owl:Class GO:0005622 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001013 biolink:NamedThing hp0009lx5z owl:Class GO:0005764 biolink:NamedThing hp0009lx5z owl:Class PATO:0001788 biolink:NamedThing hp0009lx5z owl:Class HP:0002459 biolink:NamedThing obsolete Dysautonomia hp0009lx5z HP:0012332 True owl:Class HP:0001673 biolink:NamedThing obsolete Tachycardia (with pheochromocytoma) hp0009lx5z HP:0001649 True owl:Class UBERON:0004613 biolink:NamedThing hp0009lx5z owl:Class OIO:consider biolink:NamedThing consider hp0009lx5z owl:AnnotationProperty PATO:0001785 biolink:NamedThing hp0009lx5z owl:Class PATO:0001828 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004319 biolink:NamedThing hp0009lx5z owl:Class UBERON:0035133 biolink:NamedThing hp0009lx5z owl:Class HP:0004038 biolink:NamedThing obsolete Bony spicule of ulnar epiphyseal plate hp0009lx5z obsoleted on July 11, 2019. True owl:Class PATO:0001898 biolink:NamedThing hp0009lx5z owl:Class GO:0042373 biolink:NamedThing hp0009lx5z owl:Class HP:0011156 biolink:NamedThing obsolete Focal autonomic seizures without altered responsiveness hp0009lx5z HP:0032740 2011-10-18T02:24:42Z True owl:Class UBERON:0003620 biolink:NamedThing hp0009lx5z owl:Class PATO:0001940 biolink:NamedThing hp0009lx5z owl:Class HP:0011398 biolink:NamedThing obsolete Central hypotonia hp0009lx5z HP:0001252 peter 2012-03-12T04:39:51Z True owl:Class HP:0009448 biolink:NamedThing obsolete Aplasia of the phalanges of the 3rd finger hp0009lx5z HP:0009447 True owl:Class UBERON:0001982 biolink:NamedThing hp0009lx5z owl:Class HsapDv:0000091 biolink:NamedThing hp0009lx5z owl:Class OIO:SubsetProperty biolink:NamedThing subset_property hp0009lx5z owl:AnnotationProperty UBERON:0001275 biolink:NamedThing hp0009lx5z owl:Class GO:0031514 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001062 biolink:NamedThing hp0009lx5z owl:Class GO:0006563 biolink:NamedThing hp0009lx5z owl:Class GO:0070085 biolink:NamedThing hp0009lx5z owl:Class UBERON:0017670 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006805 biolink:NamedThing hp0009lx5z owl:Class CL:0007011 biolink:NamedThing hp0009lx5z owl:Class HP:0004186 biolink:NamedThing obsolete Large epiphysis of terminal phalanx of the middle finger hp0009lx5z HP:0009316 True owl:Class UBERON:0013778 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004769 biolink:NamedThing hp0009lx5z owl:Class PATO:0040040 biolink:NamedThing hp0009lx5z owl:Class PATO:0000956 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008255 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004101 biolink:NamedThing hp0009lx5z owl:Class PATO:0000912 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004652 biolink:NamedThing hp0009lx5z owl:Class NBO:0000589 biolink:NamedThing hp0009lx5z owl:Class UBERON:0035639 biolink:NamedThing hp0009lx5z owl:Class OBO:hp#plural_form biolink:NamedThing plural form hp0009lx5z HPO:skoehler owl:AnnotationProperty UBERON:0001455 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001295 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004465 biolink:NamedThing hp0009lx5z owl:Class PATO:0001483 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004476 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002093 biolink:NamedThing hp0009lx5z owl:Class PATO:0000406 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003682 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012241 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004452 biolink:NamedThing hp0009lx5z owl:Class HP:0007736 biolink:NamedThing obsolete Pericentral retinal dystrophy hp0009lx5z HP:0000556 True owl:Class UBERON:0007741 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001825 biolink:NamedThing hp0009lx5z owl:Class HP:0011606 biolink:NamedThing obsolete Transposition of the great arteries with intact ventricular septum hp0009lx5z HP:0001669 True owl:Class MPATH:28 biolink:NamedThing hp0009lx5z owl:Class PATO:0002034 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003700 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001443 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006664 biolink:NamedThing hp0009lx5z owl:Class MPATH:201 biolink:NamedThing hp0009lx5z owl:Class GO:0005604 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002095 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002078 biolink:NamedThing hp0009lx5z owl:Class GO:0032787 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002345 biolink:NamedThing hp0009lx5z owl:Class NBO:0001845 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16015 biolink:NamedThing hp0009lx5z owl:Class OBO:hp#is_observable_through biolink:NamedThing is_observable_through hp0009lx5z owl:AnnotationProperty UBERON:0003128 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000014 biolink:NamedThing hp0009lx5z owl:Class PATO:0002179 biolink:NamedThing hp0009lx5z owl:Class CHEBI:37395 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006067 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001474 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001867 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010230 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003863 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000004 biolink:NamedThing hp0009lx5z owl:Class GO:0048513 biolink:NamedThing hp0009lx5z owl:Class CL:0000125 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000989 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003461 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001095 biolink:NamedThing hp0009lx5z owl:Class PATO:0001444 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014386 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002081 biolink:NamedThing hp0009lx5z owl:Class CL:0000576 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28384 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014398 biolink:NamedThing hp0009lx5z owl:Class HP:0003152 biolink:NamedThing obsolete Increased serum 1,25-dihydroxyvitamin D3 hp0009lx5z HP:0031415 True owl:Class HP:0004198 biolink:NamedThing obsolete Wide/broad phalanges of the ring finger hp0009lx5z HP:0009172 True owl:Class GO:0004736 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003723 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004326 biolink:NamedThing hp0009lx5z owl:Class PATO:0000587 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001817 biolink:NamedThing hp0009lx5z owl:Class CHEBI:24318 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002446 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003672 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004124 biolink:NamedThing hp0009lx5z owl:Class HP:0005309 biolink:NamedThing obsolete Peripheral vascular insufficiency hp0009lx5z HP:0004950 True owl:Class MPATH:608 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010358 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001442 biolink:NamedThing hp0009lx5z owl:Class GO:0006520 biolink:NamedThing hp0009lx5z owl:Class HP:0002377 biolink:NamedThing obsolete Paraganglioma-related cranial nerve palsy hp0009lx5z HP:0006824 True owl:Class PATO:0001878 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010707 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15891 biolink:NamedThing hp0009lx5z owl:Class OIO:hasOBOFormatVersion biolink:NamedThing has_obo_format_version hp0009lx5z owl:AnnotationProperty UBERON:0000165 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016409 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004391 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000382 biolink:NamedThing hp0009lx5z owl:Class CHEBI:741548 biolink:NamedThing hp0009lx5z owl:Class PR:000003809 biolink:NamedThing hp0009lx5z owl:Class GO:0030097 biolink:NamedThing hp0009lx5z owl:Class HP:0000489 biolink:NamedThing obsolete Abnormality of globe location or size hp0009lx5z HP:0100886|HP:0100887 True owl:Class UBERON:0001377 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001485 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002393 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009679 biolink:NamedThing hp0009lx5z owl:Class PATO:0002291 biolink:NamedThing hp0009lx5z owl:Class NBO:0000605 biolink:NamedThing hp0009lx5z owl:Class GO:0061696 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002356 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000982 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001125 biolink:NamedThing hp0009lx5z owl:Class PATO:0001922 biolink:NamedThing hp0009lx5z owl:Class PR:O14841 biolink:NamedThing hp0009lx5z owl:Class PATO:0000051 biolink:NamedThing hp0009lx5z owl:Class HP:0005375 biolink:NamedThing obsolete Partial cellular immunodeficiency hp0009lx5z HP:0005374 True owl:Class HP:0410007 biolink:NamedThing obsolete Abnormality of cartilage morphology hp0009lx5z HP:0002763 True owl:Class UBERON:0007762 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000976 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010355 biolink:NamedThing hp0009lx5z owl:Class NBO:0000663 biolink:NamedThing hp0009lx5z owl:Class CHEBI:36080 biolink:NamedThing hp0009lx5z owl:Class HP:0040193 biolink:NamedThing obsolete Pinealoblastoma hp0009lx5z HP:0030408 True owl:Class UBERON:0002286 biolink:NamedThing hp0009lx5z owl:Class NBO:0000731 biolink:NamedThing hp0009lx5z owl:Class HP:0007982 biolink:NamedThing obsolete Central tapetoretinal dystrophy hp0009lx5z HP:0000556 True owl:Class CHEBI:18089 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17381 biolink:NamedThing hp0009lx5z owl:Class HP:0001862 biolink:NamedThing obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) hp0009lx5z HP:0006121 True owl:Class UBERON:0034908 biolink:NamedThing hp0009lx5z owl:Class GO:0007049 biolink:NamedThing hp0009lx5z owl:Class CL:0000000 biolink:NamedThing hp0009lx5z owl:Class HP:0025191 biolink:NamedThing obsolete Segmental myoclonic seizures hp0009lx5z HP:0011166 2016-12-04 23:02:24+00:00 HPO:probinson True owl:Class MPATH:675 biolink:NamedThing hp0009lx5z owl:Class HP:0007783 biolink:NamedThing obsolete Butterfly retinal pigment epithelial dystrophy hp0009lx5z HP:0000556 True owl:Class PR:000003918 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004086 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004312 biolink:NamedThing hp0009lx5z owl:Class PATO:0001845 biolink:NamedThing hp0009lx5z owl:Class UBERON:0019255 biolink:NamedThing hp0009lx5z owl:Class PATO:0002166 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000916 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006849 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016455 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004105 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014668 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003681 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002129 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002381 biolink:NamedThing hp0009lx5z owl:Class PATO:0000644 biolink:NamedThing hp0009lx5z owl:Class HP:0004183 biolink:NamedThing obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger hp0009lx5z HP:0009357 True owl:Class HP:0000057 biolink:NamedThing obsolete Clitoromegaly hp0009lx5z HP:0008665 True owl:Class CL:0000188 biolink:NamedThing hp0009lx5z owl:Class NBO:0000735 biolink:NamedThing hp0009lx5z owl:Class PATO:0000014 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014444 biolink:NamedThing hp0009lx5z owl:Class HP:0004928 biolink:NamedThing obsolete Peripheral arterial stenosis hp0009lx5z HP:0004950 True owl:Class HsapDv:0000089 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003709 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002517 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001737 biolink:NamedThing hp0009lx5z owl:Class CHEBI:64390 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002094 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001968 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000933 biolink:NamedThing hp0009lx5z owl:Class GO:0006664 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000454 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002544 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018604 biolink:NamedThing hp0009lx5z owl:Class PR:000007749 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002114 biolink:NamedThing hp0009lx5z owl:Class HP:0000655 biolink:NamedThing obsolete Vitreoretinal degeneration hp0009lx5z HP:0007773 True owl:Class UBERON:0001166 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004320 biolink:NamedThing hp0009lx5z owl:Class NBO:0000676 biolink:NamedThing hp0009lx5z owl:Class CL:0000182 biolink:NamedThing hp0009lx5z owl:Class HP:0500014 biolink:NamedThing obsolete Abnormal test result hp0009lx5z HP:0000118 True owl:Class CHEBI:64709 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003407 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001577 biolink:NamedThing hp0009lx5z owl:Class MPATH:574 biolink:NamedThing hp0009lx5z owl:Class dc:subject biolink:NamedThing hp0009lx5z owl:AnnotationProperty UBERON:0001449 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003685 biolink:NamedThing hp0009lx5z owl:Class PATO:0000701 biolink:NamedThing hp0009lx5z owl:Class PATO:0000297 biolink:NamedThing hp0009lx5z owl:Class PATO:0001477 biolink:NamedThing hp0009lx5z owl:Class GO:0007567 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004084 biolink:NamedThing hp0009lx5z owl:Class NBO:0000096 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009568 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001433 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001575 biolink:NamedThing hp0009lx5z owl:Class GO:0006591 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010946 biolink:NamedThing hp0009lx5z owl:Class CL:0000798 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007744 biolink:NamedThing hp0009lx5z owl:Class HP:0040316 biolink:NamedThing obsolete Aplasia of the penis hp0009lx5z HP:0030261 True owl:Class CHEBI:16134 biolink:NamedThing hp0009lx5z owl:Class PATO:0000470 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016454 biolink:NamedThing hp0009lx5z owl:Class PATO:0002089 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003704 biolink:NamedThing hp0009lx5z owl:Class GO:0030421 biolink:NamedThing hp0009lx5z owl:Class GO:0055062 biolink:NamedThing hp0009lx5z owl:Class CHEBI:84690 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001680 biolink:NamedThing hp0009lx5z owl:Class GO:0006000 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013691 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001432 biolink:NamedThing hp0009lx5z owl:Class HP:0005114 biolink:NamedThing obsolete Abnormalities of the peripheral arteries hp0009lx5z HP:0011004 True owl:Class PATO:0001802 biolink:NamedThing hp0009lx5z owl:Class NBO:0000738 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001274 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001908 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16199 biolink:NamedThing hp0009lx5z owl:Class CHEBI:27300 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011648 biolink:NamedThing hp0009lx5z owl:Class PATO:0001162 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001143 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000010 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001571 biolink:NamedThing hp0009lx5z owl:Class PATO:0002359 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000959 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002423 biolink:NamedThing hp0009lx5z owl:Class CHEBI:20067 biolink:NamedThing hp0009lx5z owl:Class NBO:0000617 biolink:NamedThing hp0009lx5z owl:Class PATO:0002021 biolink:NamedThing hp0009lx5z owl:Class CHEBI:546807 biolink:NamedThing hp0009lx5z owl:Class CHEBI:47774 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011576 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003867 biolink:NamedThing hp0009lx5z owl:Class NBO:0000063 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002386 biolink:NamedThing hp0009lx5z owl:Class MPATH:74 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002349 biolink:NamedThing hp0009lx5z owl:Class HP:0004953 biolink:NamedThing obsolete Dilatation of abdominal aorta hp0009lx5z HP:0005112 True owl:Class HP:0007868 biolink:NamedThing obsolete Age-related macular degeneration hp0009lx5z HP:0000608 True owl:Class UBERON:0004329 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004646 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000974 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006937 biolink:NamedThing hp0009lx5z owl:Class CHEBI:33575 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000102 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002005 biolink:NamedThing hp0009lx5z owl:Class CHEBI:32796 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010743 biolink:NamedThing hp0009lx5z owl:Class CHEBI:29101 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001332 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002324 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004335 biolink:NamedThing hp0009lx5z owl:Class PATO:0002281 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010746 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004480 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001785 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004317 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013774 biolink:NamedThing hp0009lx5z owl:Class GO:0007598 biolink:NamedThing hp0009lx5z owl:Class HP:0009163 biolink:NamedThing obsolete Abnormal form of the 5th finger hp0009lx5z HP:0004207 True owl:Class GO:0060004 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004488 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016928 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004300 biolink:NamedThing hp0009lx5z owl:Class CHEBI:60525 biolink:NamedThing hp0009lx5z owl:Class CL:0000100 biolink:NamedThing hp0009lx5z owl:Class HP:0007782 biolink:NamedThing obsolete Peripheral retinal cone degeneration hp0009lx5z HP:0007769 True owl:Class PATO:0001618 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008199 biolink:NamedThing hp0009lx5z owl:Class HP:0010905 biolink:NamedThing obsolete Abnormality of histidine metabolism hp0009lx5z HP:0010904 True owl:Class UBERON:0003695 biolink:NamedThing hp0009lx5z owl:Class GO:0006600 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005438 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002375 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001782 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003823 biolink:NamedThing hp0009lx5z owl:Class HP:0032364 biolink:NamedThing obsolete Abnormal CSF amino acid level hp0009lx5z HP:0500184 True owl:Class UBERON:0001734 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001325 biolink:NamedThing hp0009lx5z owl:Class CL:0000764 biolink:NamedThing hp0009lx5z owl:Class GO:0019852 biolink:NamedThing hp0009lx5z owl:Class HP:0001487 biolink:NamedThing obsolete Hypopigmented fundi hp0009lx5z HP:0007894 True owl:Class PATO:0000648 biolink:NamedThing hp0009lx5z owl:Class GO:0070166 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000955 biolink:NamedThing hp0009lx5z owl:Class PATO:0000380 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006865 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003865 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008585 biolink:NamedThing hp0009lx5z owl:Class PATO:0002149 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001686 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001678 biolink:NamedThing hp0009lx5z owl:Class PATO:0001937 biolink:NamedThing hp0009lx5z owl:Class CHEBI:132952 biolink:NamedThing hp0009lx5z owl:Class HP:0002880 biolink:NamedThing obsolete Respiratory difficulties hp0009lx5z HP:0002098 True owl:Class UBERON:0000966 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18287 biolink:NamedThing hp0009lx5z owl:Class OBO:hp/releases/2021-08-02/hp-base.owl biolink:NamedThing hp0009lx5z UBERON:0002135 biolink:NamedThing hp0009lx5z owl:Class CL:0000775 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16113 biolink:NamedThing hp0009lx5z owl:Class HP:0410004 biolink:NamedThing obsolete Cleft secondary palate hp0009lx5z HP:0000175 True owl:Class UBERON:0004464 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008878 biolink:NamedThing hp0009lx5z owl:Class PATO:0000950 biolink:NamedThing hp0009lx5z owl:Class PATO:0001195 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002289 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004394 biolink:NamedThing hp0009lx5z owl:Class UBERON:0017692 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007747 biolink:NamedThing hp0009lx5z owl:Class CHEBI:25212 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001235 biolink:NamedThing hp0009lx5z owl:Class CHEBI:545959 biolink:NamedThing hp0009lx5z owl:Class dc:license biolink:NamedThing hp0009lx5z owl:AnnotationProperty MPATH:387 biolink:NamedThing hp0009lx5z owl:Class HP:0025462 biolink:NamedThing obsolete Abnormal cellular physiology hp0009lx5z HP:0011017 2017-05-07 11:16:16+00:00 True owl:Class UBERON:0008597 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15379 biolink:NamedThing hp0009lx5z owl:Class CHEBI:50860 biolink:NamedThing hp0009lx5z owl:Class GO:0042100 biolink:NamedThing hp0009lx5z owl:Class HP:0002755 biolink:NamedThing obsolete Osteomyelitis due to immunodeficiency hp0009lx5z HP:0002754 True owl:Class PATO:0001821 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011859 biolink:NamedThing hp0009lx5z owl:Class GO:0050667 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001088 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004322 biolink:NamedThing hp0009lx5z owl:Class GO:0060073 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16526 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008593 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001093 biolink:NamedThing hp0009lx5z owl:Class PR:000013429 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003651 biolink:NamedThing hp0009lx5z owl:Class PATO:0000498 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001622 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001887 biolink:NamedThing hp0009lx5z owl:Class GO:0006281 biolink:NamedThing hp0009lx5z owl:Class NBO:0000586 biolink:NamedThing hp0009lx5z owl:Class NBO:0000054 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002589 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002264 biolink:NamedThing hp0009lx5z owl:Class GO:0030252 biolink:NamedThing hp0009lx5z owl:Class PR:000009758 biolink:NamedThing hp0009lx5z owl:Class PATO:0000570 biolink:NamedThing hp0009lx5z owl:Class HP:0005837 biolink:NamedThing obsolete Joint dislocations in young adult hp0009lx5z HP:0001373 True owl:Class CHEBI:50113 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012477 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003650 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004248 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012254 biolink:NamedThing hp0009lx5z owl:Class PATO:0000760 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001832 biolink:NamedThing hp0009lx5z owl:Class PATO:0001562 biolink:NamedThing hp0009lx5z owl:Class HP:0007961 biolink:NamedThing obsolete Rarefaction of retinal pigmentation hp0009lx5z HP:0000580 True owl:Class PATO:0001608 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016530 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005440 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008785 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001490 biolink:NamedThing hp0009lx5z owl:Class dct:creator biolink:NamedThing hp0009lx5z owl:AnnotationProperty UBERON:0003951 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15361 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000167 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001776 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004413 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001988 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010408 biolink:NamedThing hp0009lx5z owl:Class GO:0008483 biolink:NamedThing hp0009lx5z owl:Class GO:0043209 biolink:NamedThing hp0009lx5z owl:Class PATO:0002142 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001633 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014796 biolink:NamedThing hp0009lx5z owl:Class UBERON:0019242 biolink:NamedThing hp0009lx5z owl:Class PATO:0001505 biolink:NamedThing hp0009lx5z owl:Class PATO:0000623 biolink:NamedThing hp0009lx5z owl:Class GO:0007601 biolink:NamedThing hp0009lx5z owl:Class CHEBI:24163 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001111 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001424 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002411 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007416 biolink:NamedThing hp0009lx5z owl:Class PATO:0000642 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005273 biolink:NamedThing hp0009lx5z owl:Class CHEBI:27226 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001578 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018570 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18211 biolink:NamedThing hp0009lx5z owl:Class NBO:0000258 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16189 biolink:NamedThing hp0009lx5z owl:Class GO:0032602 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004089 biolink:NamedThing hp0009lx5z owl:Class PATO:0000592 biolink:NamedThing hp0009lx5z owl:Class PATO:0002157 biolink:NamedThing hp0009lx5z owl:Class NBO:0000444 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001809 biolink:NamedThing hp0009lx5z owl:Class PATO:0002161 biolink:NamedThing hp0009lx5z owl:Class HP:0007930 biolink:NamedThing obsolete Prominent epicanthal folds hp0009lx5z HP:0000286 True owl:Class UBERON:0001383 biolink:NamedThing hp0009lx5z owl:Class PATO:0000609 biolink:NamedThing hp0009lx5z owl:Class GO:0031052 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002082 biolink:NamedThing hp0009lx5z owl:Class PATO:0002212 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006689 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001507 biolink:NamedThing hp0009lx5z owl:Class GO:0042627 biolink:NamedThing hp0009lx5z owl:Class PATO:0001790 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010544 biolink:NamedThing hp0009lx5z owl:Class PATO:0001876 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004328 biolink:NamedThing hp0009lx5z owl:Class OIO:hasSynonymType biolink:NamedThing hp0009lx5z owl:AnnotationProperty GO:0042359 biolink:NamedThing hp0009lx5z owl:Class PATO:0000328 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001225 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001756 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001835 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018405 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000053 biolink:NamedThing hp0009lx5z owl:Class GO:0004035 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004612 biolink:NamedThing hp0009lx5z owl:Class CL:0002422 biolink:NamedThing hp0009lx5z owl:Class GO:0035282 biolink:NamedThing hp0009lx5z owl:Class CHEBI:27570 biolink:NamedThing hp0009lx5z owl:Class CL:0001062 biolink:NamedThing hp0009lx5z owl:Class GO:0006909 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001421 biolink:NamedThing hp0009lx5z owl:Class PATO:0002304 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004601 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16737 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012074 biolink:NamedThing hp0009lx5z owl:Class dc:title biolink:NamedThing hp0009lx5z owl:AnnotationProperty UBERON:0011601 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000079 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008962 biolink:NamedThing hp0009lx5z owl:Class GO:0070288 biolink:NamedThing hp0009lx5z owl:Class HP:0030524 biolink:NamedThing obsolete Peripheral visual field constriction with 30-39 degrees central field preserved hp0009lx5z HP:0030525 True owl:Class HP:0001606 biolink:NamedThing obsolete Vocal cord paralysis (caused by tumor impingement) hp0009lx5z HP:0001605 True owl:Class GO:0042742 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28087 biolink:NamedThing hp0009lx5z owl:Class GO:0006486 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003502 biolink:NamedThing hp0009lx5z owl:Class CL:0000763 biolink:NamedThing hp0009lx5z owl:Class GO:0070527 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002516 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008230 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002294 biolink:NamedThing hp0009lx5z owl:Class PR:Q15848 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001794 biolink:NamedThing hp0009lx5z owl:Class GO:0070977 biolink:NamedThing hp0009lx5z owl:Class HP:0008694 biolink:NamedThing obsolete Hypertrophic labia minora hp0009lx5z HP:0008683 True owl:Class UBERON:0019222 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002228 biolink:NamedThing hp0009lx5z owl:Class HP:0004544 biolink:NamedThing obsolete Pointed frontal hairline hp0009lx5z HP:0000349 True owl:Class PATO:0002163 biolink:NamedThing hp0009lx5z owl:Class HP:0030266 biolink:NamedThing obsolete Abnormality of the sacroiliac notch hp0009lx5z HP:0010456 True owl:Class CHEBI:33515 biolink:NamedThing hp0009lx5z owl:Class GO:0006766 biolink:NamedThing hp0009lx5z owl:Class GO:0006541 biolink:NamedThing hp0009lx5z owl:Class HP:0032881 biolink:NamedThing obsolete Focal aware cognitive seizure with impaired responsiveness hp0009lx5z HP:0032681 peter True owl:Class PATO:0000585 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002988 biolink:NamedThing hp0009lx5z owl:Class GO:0006573 biolink:NamedThing hp0009lx5z owl:Class CHEBI:27897 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001684 biolink:NamedThing hp0009lx5z owl:Class PATO:0000395 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001446 biolink:NamedThing hp0009lx5z owl:Class CL:0001044 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002049 biolink:NamedThing hp0009lx5z owl:Class CHEBI:60311 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17113 biolink:NamedThing hp0009lx5z owl:Class GO:0019814 biolink:NamedThing hp0009lx5z owl:Class HsapDv:0000082 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001236 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002048 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014670 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003126 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004096 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014891 biolink:NamedThing hp0009lx5z owl:Class HP:0006901 biolink:NamedThing obsolete Impaired thermal sensitivity hp0009lx5z HP:0010829 True owl:Class PATO:0002055 biolink:NamedThing hp0009lx5z owl:Class UBERON:0017716 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001453 biolink:NamedThing hp0009lx5z owl:Class NBO:0000690 biolink:NamedThing hp0009lx5z owl:Class PATO:0002049 biolink:NamedThing hp0009lx5z owl:Class PATO:0000918 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001682 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001844 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014543 biolink:NamedThing hp0009lx5z owl:Class GO:0055064 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006517 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000009 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007811 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18237 biolink:NamedThing hp0009lx5z owl:Class PATO:0001928 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18361 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001199 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007756 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000002 biolink:NamedThing hp0009lx5z owl:Class CL:0002198 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18085 biolink:NamedThing hp0009lx5z owl:Class PATO:0001472 biolink:NamedThing hp0009lx5z owl:Class HP:0041090 biolink:NamedThing obsolete Avulsion fractured pelvic region of trunk hp0009lx5z True owl:Class UBERON:0006683 biolink:NamedThing hp0009lx5z owl:Class GO:0000819 biolink:NamedThing hp0009lx5z owl:Class PATO:0001481 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004703 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001269 biolink:NamedThing hp0009lx5z owl:Class NBO:0000011 biolink:NamedThing hp0009lx5z owl:Class MPATH:476 biolink:NamedThing hp0009lx5z owl:Class GO:0046110 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010260 biolink:NamedThing hp0009lx5z owl:Class GO:0007608 biolink:NamedThing hp0009lx5z owl:Class PATO:0000499 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005928 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004666 biolink:NamedThing hp0009lx5z owl:Class PATO:0002093 biolink:NamedThing hp0009lx5z owl:Class GO:0006012 biolink:NamedThing hp0009lx5z owl:Class HP:0032982 biolink:NamedThing obsolete Intraalveolar phospholipid accumulation hp0009lx5z HP:0006517 peter True owl:Class CHEBI:16742 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15428 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004175 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016491 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000945 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001103 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004109 biolink:NamedThing hp0009lx5z owl:Class CHEBI:26020 biolink:NamedThing hp0009lx5z owl:Class PATO:0001600 biolink:NamedThing hp0009lx5z owl:Class CHEBI:25017 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004406 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001773 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000315 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008338 biolink:NamedThing hp0009lx5z owl:Class OIO:hasRelatedSynonym biolink:NamedThing has_related_synonym hp0009lx5z owl:AnnotationProperty CHEBI:17234 biolink:NamedThing hp0009lx5z owl:Class PATO:0000645 biolink:NamedThing hp0009lx5z owl:Class PATO:0000188 biolink:NamedThing hp0009lx5z owl:Class OIO:hasNarrowSynonym biolink:NamedThing has_narrow_synonym hp0009lx5z owl:AnnotationProperty UBERON:0001687 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001619 biolink:NamedThing hp0009lx5z owl:Class UBERON:0036014 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018593 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009039 biolink:NamedThing hp0009lx5z owl:Class CL:0002092 biolink:NamedThing hp0009lx5z owl:Class GO:0007565 biolink:NamedThing hp0009lx5z owl:Class CHEBI:81568 biolink:NamedThing hp0009lx5z owl:Class GO:0042755 biolink:NamedThing hp0009lx5z owl:Class HP:0007692 biolink:NamedThing obsolete Nonnuclear polymorphic congenital cataract hp0009lx5z HP:0000519 True owl:Class UBERON:0009768 biolink:NamedThing hp0009lx5z owl:Class MPATH:34 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001691 biolink:NamedThing hp0009lx5z owl:Class CHEBI:26463 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001826 biolink:NamedThing hp0009lx5z owl:Class CHEBI:47773 biolink:NamedThing hp0009lx5z owl:Class PATO:0000323 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002372 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004449 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009472 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28868 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003625 biolink:NamedThing hp0009lx5z owl:Class OBO:hp#display_label biolink:NamedThing display label hp0009lx5z 2018-07-05 13:18:08+00:00 peter owl:AnnotationProperty UBERON:0001574 biolink:NamedThing hp0009lx5z owl:Class CHEBI:25094 biolink:NamedThing hp0009lx5z owl:Class GO:0022410 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002107 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013777 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010747 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001502 biolink:NamedThing hp0009lx5z owl:Class CL:0000169 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010171 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001811 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000479 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013750 biolink:NamedThing hp0009lx5z owl:Class PATO:0001863 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012291 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001516 biolink:NamedThing hp0009lx5z owl:Class HP:0007659 biolink:NamedThing obsolete Decreased retinal pigmentation with dispersion hp0009lx5z HP:0007703 True owl:Class UBERON:0008856 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004535 biolink:NamedThing hp0009lx5z owl:Class GO:0032286 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17087 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009680 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001597 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006810 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004407 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001783 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004771 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004727 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010741 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003689 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004611 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014507 biolink:NamedThing hp0009lx5z owl:Class GO:0001816 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000946 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16094 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000366 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008987 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004314 biolink:NamedThing hp0009lx5z owl:Class PATO:0002001 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001580 biolink:NamedThing hp0009lx5z owl:Class HP:0007945 biolink:NamedThing obsolete Choroidal degeneration hp0009lx5z HP:0200065 True owl:Class UBERON:0004408 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003640 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016412 biolink:NamedThing hp0009lx5z owl:Class MPATH:197 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001639 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15611 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001702 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006761 biolink:NamedThing hp0009lx5z owl:Class UBERON:0017671 biolink:NamedThing hp0009lx5z owl:Class HsapDv:0000037 biolink:NamedThing hp0009lx5z owl:Class GO:0072507 biolink:NamedThing hp0009lx5z owl:Class GO:0003008 biolink:NamedThing hp0009lx5z owl:Class GO:0070293 biolink:NamedThing hp0009lx5z owl:Class CL:0000738 biolink:NamedThing hp0009lx5z owl:Class GO:0030203 biolink:NamedThing hp0009lx5z owl:Class PATO:0002180 biolink:NamedThing hp0009lx5z owl:Class HP:0041054 biolink:NamedThing obsolete Fractured thoracic segment of trunk hp0009lx5z HP:0020110 True owl:Class UBERON:0000170 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001043 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003642 biolink:NamedThing hp0009lx5z owl:Class PATO:0000427 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001264 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003464 biolink:NamedThing hp0009lx5z owl:Class HsapDv:0000045 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001530 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28358 biolink:NamedThing hp0009lx5z owl:Class NBO:0000030 biolink:NamedThing hp0009lx5z owl:Class CL:0000792 biolink:NamedThing hp0009lx5z owl:Class PATO:0001512 biolink:NamedThing hp0009lx5z owl:Class PATO:0002156 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018595 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001350 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004618 biolink:NamedThing hp0009lx5z owl:Class HP:0005833 biolink:NamedThing obsolete Joint swelling onset late infancy hp0009lx5z HP:0001386 True owl:Class CL:0000787 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010235 biolink:NamedThing hp0009lx5z owl:Class CHEBI:20106 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006767 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001532 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000344 biolink:NamedThing hp0009lx5z owl:Class GO:0006544 biolink:NamedThing hp0009lx5z owl:Class CL:0011001 biolink:NamedThing hp0009lx5z owl:Class GO:0060047 biolink:NamedThing hp0009lx5z owl:Class dct:license biolink:NamedThing hp0009lx5z owl:AnnotationProperty UBERON:0003450 biolink:NamedThing hp0009lx5z owl:Class CHEBI:83820 biolink:NamedThing hp0009lx5z owl:Class PATO:0001453 biolink:NamedThing hp0009lx5z owl:Class HP:0040066 biolink:NamedThing obsolete Abnormal morphology of bones of the lower limbs hp0009lx5z HP:0040069 True owl:Class UBERON:0001003 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000200 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004106 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17549 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014505 biolink:NamedThing hp0009lx5z owl:Class NBO:0000621 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004311 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006906 biolink:NamedThing hp0009lx5z owl:Class MPATH:579 biolink:NamedThing hp0009lx5z owl:Class PATO:0040042 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010952 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002032 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001585 biolink:NamedThing hp0009lx5z owl:Class NBO:0000702 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15676 biolink:NamedThing hp0009lx5z owl:Class GO:0019172 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002387 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003868 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001438 biolink:NamedThing hp0009lx5z owl:Class CL:0000492 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004405 biolink:NamedThing hp0009lx5z owl:Class PATO:0001818 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16070 biolink:NamedThing hp0009lx5z owl:Class PATO:0001596 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016442 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002236 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002079 biolink:NamedThing hp0009lx5z owl:Class NBO:0000737 biolink:NamedThing hp0009lx5z owl:Class NBO:0000420 biolink:NamedThing hp0009lx5z owl:Class CL:0000178 biolink:NamedThing hp0009lx5z owl:Class PATO:0000635 biolink:NamedThing hp0009lx5z owl:Class GO:0051607 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001736 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002038 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001489 biolink:NamedThing hp0009lx5z owl:Class GO:0051319 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001768 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003623 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003655 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001557 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004323 biolink:NamedThing hp0009lx5z owl:Class PATO:0000330 biolink:NamedThing hp0009lx5z owl:Class CL:0000972 biolink:NamedThing hp0009lx5z owl:Class PATO:0002400 biolink:NamedThing hp0009lx5z owl:Class CL:0000128 biolink:NamedThing hp0009lx5z owl:Class GO:0032289 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003635 biolink:NamedThing hp0009lx5z owl:Class PATO:0000141 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010887 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001753 biolink:NamedThing hp0009lx5z owl:Class GO:0001958 biolink:NamedThing hp0009lx5z owl:Class NBO:0000416 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002435 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001486 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28689 biolink:NamedThing hp0009lx5z owl:Class PATO:0002169 biolink:NamedThing hp0009lx5z owl:Class PATO:0001362 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001848 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17933 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16180 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004395 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006074 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001751 biolink:NamedThing hp0009lx5z owl:Class CHEBI:22658 biolink:NamedThing hp0009lx5z owl:Class CL:0000015 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003694 biolink:NamedThing hp0009lx5z owl:Class MPATH:346 biolink:NamedThing hp0009lx5z owl:Class PATO:0001624 biolink:NamedThing hp0009lx5z owl:Class GO:0042552 biolink:NamedThing hp0009lx5z owl:Class CL:0000789 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016410 biolink:NamedThing hp0009lx5z owl:Class PATO:0000318 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016413 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15551 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002285 biolink:NamedThing hp0009lx5z owl:Class HP:0040077 biolink:NamedThing obsolete Abnormal concentration of calcium in blood hp0009lx5z HP:0004363 True owl:Class GO:0009235 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18257 biolink:NamedThing hp0009lx5z owl:Class NBO:0000712 biolink:NamedThing hp0009lx5z owl:Class PATO:0002043 biolink:NamedThing hp0009lx5z owl:Class GO:0042695 biolink:NamedThing hp0009lx5z owl:Class PATO:0001786 biolink:NamedThing hp0009lx5z owl:Class http://orcid.org/0000-0002-6387-4317 biolink:NamedThing hp0009lx5z UBERON:0016405 biolink:NamedThing hp0009lx5z owl:Class PATO:0000595 biolink:NamedThing hp0009lx5z owl:Class CL:0000097 biolink:NamedThing hp0009lx5z owl:Class CHEBI:21241 biolink:NamedThing hp0009lx5z owl:Class PATO:0000150 biolink:NamedThing hp0009lx5z owl:Class HP:0004759 biolink:NamedThing obsolete Nodular calcific aortic valve disease hp0009lx5z HP:0004380 True owl:Class UBERON:0013749 biolink:NamedThing hp0009lx5z owl:Class HP:0004196 biolink:NamedThing obsolete Short phalanges of the ring finger hp0009lx5z HP:0009408 True owl:Class UBERON:0004489 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28044 biolink:NamedThing hp0009lx5z owl:Class NBO:0000604 biolink:NamedThing hp0009lx5z owl:Class PATO:0001883 biolink:NamedThing hp0009lx5z owl:Class CHEBI:22918 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008594 biolink:NamedThing hp0009lx5z owl:Class CHEBI:70958 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001434 biolink:NamedThing hp0009lx5z owl:Class PATO:0002181 biolink:NamedThing hp0009lx5z owl:Class GO:1901052 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003292 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011931 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002347 biolink:NamedThing hp0009lx5z owl:Class MPATH:622 biolink:NamedThing hp0009lx5z owl:Class PATO:0000665 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000981 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002500 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010284 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006203 biolink:NamedThing hp0009lx5z owl:Class PR:000009771 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002207 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004864 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006956 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001714 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002362 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17553 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16865 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17996 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000388 biolink:NamedThing hp0009lx5z owl:Class PATO:0000627 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003124 biolink:NamedThing hp0009lx5z owl:Class PATO:0001654 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002270 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014477 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004333 biolink:NamedThing hp0009lx5z owl:Class PATO:0001649 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28115 biolink:NamedThing hp0009lx5z owl:Class GO:0006956 biolink:NamedThing hp0009lx5z owl:Class GO:0043648 biolink:NamedThing hp0009lx5z owl:Class CL:0000547 biolink:NamedThing hp0009lx5z owl:Class PATO:0000647 biolink:NamedThing hp0009lx5z owl:Class CL:0000625 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001423 biolink:NamedThing hp0009lx5z owl:Class GO:0042730 biolink:NamedThing hp0009lx5z owl:Class GO:0016137 biolink:NamedThing hp0009lx5z owl:Class UBERON:0017717 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011575 biolink:NamedThing hp0009lx5z owl:Class PATO:0040030 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18183 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001385 biolink:NamedThing hp0009lx5z owl:Class GO:0036066 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001431 biolink:NamedThing hp0009lx5z owl:Class MPATH:718 biolink:NamedThing hp0009lx5z owl:Class IAO:0000115 biolink:NamedThing definition hp0009lx5z owl:AnnotationProperty UBERON:0002240 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002382 biolink:NamedThing hp0009lx5z owl:Class HP:0007786 biolink:NamedThing obsolete Lacunar retinal depigmentation hp0009lx5z HP:0007858 True owl:Class UBERON:0004249 biolink:NamedThing hp0009lx5z owl:Class HP:0003340 biolink:NamedThing obsolete Abnormal dermatological laboratory findings hp0009lx5z HP:0000951 True owl:Class CHEBI:30915 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001130 biolink:NamedThing hp0009lx5z owl:Class GO:0006555 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000980 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16449 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002165 biolink:NamedThing hp0009lx5z owl:Class PATO:0001869 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001184 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001708 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003631 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004325 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000362 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000199 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004332 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013751 biolink:NamedThing hp0009lx5z owl:Class NBO:0000606 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18059 biolink:NamedThing hp0009lx5z owl:Class GO:0071736 biolink:NamedThing hp0009lx5z owl:Class PATO:0001851 biolink:NamedThing hp0009lx5z owl:Class PATO:0000407 biolink:NamedThing hp0009lx5z owl:Class GO:0042360 biolink:NamedThing hp0009lx5z owl:Class CL:0011025 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016467 biolink:NamedThing hp0009lx5z owl:Class GO:0005976 biolink:NamedThing hp0009lx5z owl:Class PATO:0000967 biolink:NamedThing hp0009lx5z owl:Class CHEBI:25107 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002080 biolink:NamedThing hp0009lx5z owl:Class PATO:0001474 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014381 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009859 biolink:NamedThing hp0009lx5z owl:Class GO:0008482 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000173 biolink:NamedThing hp0009lx5z owl:Class PATO:0000322 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002099 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010262 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004527 biolink:NamedThing hp0009lx5z owl:Class CL:0001050 biolink:NamedThing hp0009lx5z owl:Class HP:0002189 biolink:NamedThing obsolete Excessive daytime sleepiness hp0009lx5z HP:0001262 True owl:Class UBERON:0003652 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003729 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001509 biolink:NamedThing hp0009lx5z owl:Class PATO:0000692 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002389 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007735 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002190 biolink:NamedThing hp0009lx5z owl:Class CL:0008002 biolink:NamedThing hp0009lx5z owl:Class GO:0042098 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001605 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000949 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16247 biolink:NamedThing hp0009lx5z owl:Class PATO:0001473 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004321 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013771 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15727 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17855 biolink:NamedThing hp0009lx5z owl:Class HP:0003464 biolink:NamedThing obsolete Abnormal cholesterol homeostasis hp0009lx5z HP:0003107 True owl:Class UBERON:0018602 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002204 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001610 biolink:NamedThing hp0009lx5z owl:Class CHEBI:3098 biolink:NamedThing hp0009lx5z owl:Class HP:0007756 biolink:NamedThing obsolete Slitlike anterior chamber angles in children hp0009lx5z HP:0000594 True owl:Class NBO:0000128 biolink:NamedThing hp0009lx5z owl:Class GO:0007597 biolink:NamedThing hp0009lx5z owl:Class NBO:0000669 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016459 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004339 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002483 biolink:NamedThing hp0009lx5z owl:Class IAO:0000700 biolink:NamedThing hp0009lx5z owl:AnnotationProperty CHEBI:23965 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013767 biolink:NamedThing hp0009lx5z owl:Class PATO:0001810 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014503 biolink:NamedThing hp0009lx5z owl:Class NBO:0000403 biolink:NamedThing hp0009lx5z owl:Class GO:0030424 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016404 biolink:NamedThing hp0009lx5z owl:Class GO:0004494 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009767 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001436 biolink:NamedThing hp0009lx5z owl:Class CHEBI:70979 biolink:NamedThing hp0009lx5z owl:Class PR:000000001 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008596 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000378 biolink:NamedThing hp0009lx5z owl:Class PATO:0002083 biolink:NamedThing hp0009lx5z owl:Class PATO:0001987 biolink:NamedThing hp0009lx5z owl:Class CHEBI:39026 biolink:NamedThing hp0009lx5z owl:Class CHEBI:84125 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003221 biolink:NamedThing hp0009lx5z owl:Class GO:0008015 biolink:NamedThing hp0009lx5z owl:Class GO:0060048 biolink:NamedThing hp0009lx5z owl:Class PATO:0000052 biolink:NamedThing hp0009lx5z owl:Class PATO:0001201 biolink:NamedThing hp0009lx5z owl:Class GO:0004095 biolink:NamedThing hp0009lx5z owl:Class PATO:0002135 biolink:NamedThing hp0009lx5z owl:Class CHEBI:33569 biolink:NamedThing hp0009lx5z owl:Class PATO:0000689 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014411 biolink:NamedThing hp0009lx5z owl:Class PR:Q12882 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001555 biolink:NamedThing hp0009lx5z owl:Class CHEBI:26708 biolink:NamedThing hp0009lx5z owl:Class PATO:0001977 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004324 biolink:NamedThing hp0009lx5z owl:Class HP:0001122 biolink:NamedThing obsolete Aplasia/Hypoplasia of the choroid hp0009lx5z HP:0000610 True owl:Class UBERON:0017659 biolink:NamedThing hp0009lx5z owl:Class GO:0007605 biolink:NamedThing hp0009lx5z owl:Class CHEBI:48300 biolink:NamedThing hp0009lx5z owl:Class PATO:0001509 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016416 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002085 biolink:NamedThing hp0009lx5z owl:Class NBO:0000092 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004385 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002413 biolink:NamedThing hp0009lx5z owl:Class GO:0019226 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003721 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16285 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001016 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002016 biolink:NamedThing hp0009lx5z owl:Class GO:0046544 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000965 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17759 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011118 biolink:NamedThing hp0009lx5z owl:Class GO:0030431 biolink:NamedThing hp0009lx5z owl:Class GO:0046323 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002090 biolink:NamedThing hp0009lx5z owl:Class OIO:id biolink:NamedThing hp0009lx5z owl:AnnotationProperty RO:0002581 biolink:NamedThing hp0009lx5z owl:AnnotationProperty HP:0008036 biolink:NamedThing obsolete Rod-cone dystrophy hp0009lx5z True owl:Class UBERON:0004330 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014890 biolink:NamedThing hp0009lx5z owl:Class GO:0002544 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002000 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001301 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013683 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001416 biolink:NamedThing hp0009lx5z owl:Class PATO:0002026 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001112 biolink:NamedThing hp0009lx5z owl:Class UBERON:0035116 biolink:NamedThing hp0009lx5z owl:Class PATO:0001545 biolink:NamedThing hp0009lx5z owl:Class PATO:0000963 biolink:NamedThing hp0009lx5z owl:Class NBO:0000646 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004386 biolink:NamedThing hp0009lx5z owl:Class NBO:0000670 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004337 biolink:NamedThing hp0009lx5z owl:Class GO:0055069 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002084 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014889 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003252 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004327 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000468 biolink:NamedThing hp0009lx5z owl:Class PATO:0001879 biolink:NamedThing hp0009lx5z owl:Class CHEBI:22881 biolink:NamedThing hp0009lx5z owl:Class PR:000008894 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000935 biolink:NamedThing hp0009lx5z owl:Class PATO:0001592 biolink:NamedThing hp0009lx5z owl:Class CL:0000586 biolink:NamedThing hp0009lx5z owl:Class PATO:0001855 biolink:NamedThing hp0009lx5z owl:Class NBO:0001786 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014693 biolink:NamedThing hp0009lx5z owl:Class GO:0009112 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002504 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000128 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001572 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002279 biolink:NamedThing hp0009lx5z owl:Class GO:0007059 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001384 biolink:NamedThing hp0009lx5z owl:Class PATO:0002096 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001815 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003451 biolink:NamedThing hp0009lx5z owl:Class GO:0005753 biolink:NamedThing hp0009lx5z owl:Class PATO:0000547 biolink:NamedThing hp0009lx5z owl:Class GO:0031594 biolink:NamedThing hp0009lx5z owl:Class GO:0042756 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013684 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001428 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000401 biolink:NamedThing hp0009lx5z owl:Class NBO:0000603 biolink:NamedThing hp0009lx5z owl:Class PATO:0001625 biolink:NamedThing hp0009lx5z owl:Class CL:0000912 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005956 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001044 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013766 biolink:NamedThing hp0009lx5z owl:Class GO:0060343 biolink:NamedThing hp0009lx5z owl:Class PATO:0001599 biolink:NamedThing hp0009lx5z owl:Class CHEBI:27470 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004087 biolink:NamedThing hp0009lx5z owl:Class NBO:0000616 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008595 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001165 biolink:NamedThing hp0009lx5z owl:Class PATO:0001561 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001898 biolink:NamedThing hp0009lx5z owl:Class CL:0000540 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006915 biolink:NamedThing hp0009lx5z owl:Class PATO:0001236 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17859 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008522 biolink:NamedThing hp0009lx5z owl:Class GO:0061116 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007750 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002058 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001870 biolink:NamedThing hp0009lx5z owl:Class CHEBI:83813 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013616 biolink:NamedThing hp0009lx5z owl:Class PATO:0000890 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002405 biolink:NamedThing hp0009lx5z owl:Class MPATH:212 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001733 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014675 biolink:NamedThing hp0009lx5z owl:Class NBO:0000623 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003864 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001515 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002742 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002371 biolink:NamedThing hp0009lx5z owl:Class GO:0030261 biolink:NamedThing hp0009lx5z owl:Class PATO:0000927 biolink:NamedThing hp0009lx5z owl:Class CHEBI:46819 biolink:NamedThing hp0009lx5z owl:Class PATO:0002000 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001839 biolink:NamedThing hp0009lx5z owl:Class GO:0035265 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004014 biolink:NamedThing hp0009lx5z owl:Class PATO:0001597 biolink:NamedThing hp0009lx5z owl:Class NBO:0000567 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001981 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004331 biolink:NamedThing hp0009lx5z owl:Class PATO:0001025 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17822 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004614 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016426 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005056 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003471 biolink:NamedThing hp0009lx5z owl:Class CHEBI:24996 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002115 biolink:NamedThing hp0009lx5z owl:Class PATO:0001575 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004092 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002224 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001556 biolink:NamedThing hp0009lx5z owl:Class CL:0000816 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011278 biolink:NamedThing hp0009lx5z owl:Class PATO:0000125 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006813 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008588 biolink:NamedThing hp0009lx5z owl:Class GO:0009066 biolink:NamedThing hp0009lx5z owl:Class GO:0004658 biolink:NamedThing hp0009lx5z owl:Class PATO:0001563 biolink:NamedThing hp0009lx5z owl:Class CL:0000558 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011156 biolink:NamedThing hp0009lx5z owl:Class GO:0014831 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016462 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000978 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004383 biolink:NamedThing hp0009lx5z owl:Class GO:0006553 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002028 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001497 biolink:NamedThing hp0009lx5z owl:Class CHEBI:89843 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009565 biolink:NamedThing hp0009lx5z owl:Class GO:0005623 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010890 biolink:NamedThing hp0009lx5z owl:Class CHEBI:84118 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001681 biolink:NamedThing hp0009lx5z owl:Class CL:0000057 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001697 biolink:NamedThing hp0009lx5z owl:Class GO:0004565 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001228 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000017 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15999 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007196 biolink:NamedThing hp0009lx5z owl:Class CHEBI:12777 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005373 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001707 biolink:NamedThing hp0009lx5z owl:Class GO:0000096 biolink:NamedThing hp0009lx5z owl:Class PATO:0001850 biolink:NamedThing hp0009lx5z owl:Class PATO:0000119 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004108 biolink:NamedThing hp0009lx5z owl:Class UBERON:0035550 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002091 biolink:NamedThing hp0009lx5z owl:Class PATO:0002177 biolink:NamedThing hp0009lx5z owl:Class GO:0007585 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002110 biolink:NamedThing hp0009lx5z owl:Class GO:0042713 biolink:NamedThing hp0009lx5z owl:Class GO:0055127 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002398 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001847 biolink:NamedThing hp0009lx5z owl:Class PATO:0002154 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004252 biolink:NamedThing hp0009lx5z owl:Class GO:0042110 biolink:NamedThing hp0009lx5z owl:Class PATO:0001919 biolink:NamedThing hp0009lx5z owl:Class GO:0006206 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001987 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17755 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001644 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001716 biolink:NamedThing hp0009lx5z owl:Class GO:0008203 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004316 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005413 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003706 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001649 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006718 biolink:NamedThing hp0009lx5z owl:Class CHEBI:29103 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004479 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001255 biolink:NamedThing hp0009lx5z owl:Class PATO:0001816 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28300 biolink:NamedThing hp0009lx5z owl:Class HP:0004184 biolink:NamedThing obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger hp0009lx5z HP:0009423 True owl:Class UBERON:0002293 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001873 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007753 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000029 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003636 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004422 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001831 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004528 biolink:NamedThing hp0009lx5z owl:Class GO:0001964 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001072 biolink:NamedThing hp0009lx5z owl:Class GO:0003010 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001638 biolink:NamedThing hp0009lx5z owl:Class CL:0000623 biolink:NamedThing hp0009lx5z owl:Class PATO:0000610 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001496 biolink:NamedThing hp0009lx5z owl:Class HP:3000026 biolink:NamedThing obsolete Abnormality of common carotid artery plus branches hp0009lx5z HP:0430021 True owl:Class UBERON:0002488 biolink:NamedThing hp0009lx5z owl:Class CHEBI:5520 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001646 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013699 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003728 biolink:NamedThing hp0009lx5z owl:Class CHEBI:24396 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002343 biolink:NamedThing hp0009lx5z owl:Class PATO:0001999 biolink:NamedThing hp0009lx5z owl:Class PATO:0001793 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001027 biolink:NamedThing hp0009lx5z owl:Class MPATH:287 biolink:NamedThing hp0009lx5z owl:Class CHEBI:20612 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009973 biolink:NamedThing hp0009lx5z owl:Class NBO:0000602 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011277 biolink:NamedThing hp0009lx5z owl:Class GO:0097722 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008341 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004711 biolink:NamedThing hp0009lx5z owl:Class UBERON:0019232 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006533 biolink:NamedThing hp0009lx5z owl:Class PATO:0000569 biolink:NamedThing hp0009lx5z owl:Class PATO:0040019 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001495 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001653 biolink:NamedThing hp0009lx5z owl:Class PR:000012234 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001840 biolink:NamedThing hp0009lx5z owl:Class UBERON:0019200 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003674 biolink:NamedThing hp0009lx5z owl:Class CL:0000765 biolink:NamedThing hp0009lx5z owl:Class GO:0000052 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001430 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001427 biolink:NamedThing hp0009lx5z owl:Class GO:0001573 biolink:NamedThing hp0009lx5z owl:Class HP:0030340 biolink:NamedThing obsolete Increased circulating gonadotropin level hp0009lx5z HP:0000837 True owl:Class UBERON:0003634 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001793 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011978 biolink:NamedThing hp0009lx5z owl:Class CHEBI:33568 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001601 biolink:NamedThing hp0009lx5z owl:Class GO:0019752 biolink:NamedThing hp0009lx5z owl:Class GO:0009437 biolink:NamedThing hp0009lx5z owl:Class GO:0072350 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002196 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15318 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000210 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001739 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004471 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005620 biolink:NamedThing hp0009lx5z owl:Class CHEBI:26650 biolink:NamedThing hp0009lx5z owl:Class GO:0043084 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002185 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001812 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010721 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001855 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000057 biolink:NamedThing hp0009lx5z owl:Class CHEBI:24898 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001098 biolink:NamedThing hp0009lx5z owl:Class GO:0006144 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000074 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011863 biolink:NamedThing hp0009lx5z owl:Class dc:contributor biolink:NamedThing hp0009lx5z owl:AnnotationProperty UBERON:0002491 biolink:NamedThing hp0009lx5z owl:Class NBO:0000542 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004410 biolink:NamedThing hp0009lx5z owl:Class PATO:0001873 biolink:NamedThing hp0009lx5z owl:Class GO:0008283 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002402 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17026 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004053 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003822 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002101 biolink:NamedThing hp0009lx5z owl:Class PR:Q10469 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000016 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008772 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005236 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003496 biolink:NamedThing hp0009lx5z owl:Class GO:0042747 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16813 biolink:NamedThing hp0009lx5z owl:Class CHEBI:28790 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002355 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000209 biolink:NamedThing hp0009lx5z owl:Class PR:000007975 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001066 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003544 biolink:NamedThing hp0009lx5z owl:Class PATO:0001784 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002203 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016447 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001760 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003641 biolink:NamedThing hp0009lx5z owl:Class CHEBI:7044 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002567 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002369 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000990 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007721 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001689 biolink:NamedThing hp0009lx5z owl:Class PATO:0001598 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006609 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003624 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000043 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001886 biolink:NamedThing hp0009lx5z owl:Class PATO:0000403 biolink:NamedThing hp0009lx5z owl:Class NBO:0000015 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001052 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001467 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002087 biolink:NamedThing hp0009lx5z owl:Class NBO:0000608 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15963 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000403 biolink:NamedThing hp0009lx5z owl:Class PR:000007812 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001476 biolink:NamedThing hp0009lx5z owl:Class PATO:0000941 biolink:NamedThing hp0009lx5z owl:Class UBERON:0009132 biolink:NamedThing hp0009lx5z owl:Class CL:0000818 biolink:NamedThing hp0009lx5z owl:Class PATO:0001550 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006059 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16811 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002146 biolink:NamedThing hp0009lx5z owl:Class PATO:0002097 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001132 biolink:NamedThing hp0009lx5z owl:Class PR:P32754 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006314 biolink:NamedThing hp0009lx5z owl:Class CL:0000897 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001620 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003690 biolink:NamedThing hp0009lx5z owl:Class CHEBI:15904 biolink:NamedThing hp0009lx5z owl:Class NBO:0000339 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002363 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001473 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001586 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001713 biolink:NamedThing hp0009lx5z owl:Class GO:0006549 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001985 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17823 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006135 biolink:NamedThing hp0009lx5z owl:Class CHEBI:51143 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001954 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003677 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001893 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008784 biolink:NamedThing hp0009lx5z owl:Class GO:0043473 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18258 biolink:NamedThing hp0009lx5z owl:Class CHEBI:26401 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000160 biolink:NamedThing hp0009lx5z owl:Class NBO:0000647 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001454 biolink:NamedThing hp0009lx5z owl:Class PR:000007891 biolink:NamedThing hp0009lx5z owl:Class CHEBI:3892 biolink:NamedThing hp0009lx5z owl:Class PR:000049996 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001814 biolink:NamedThing hp0009lx5z owl:Class GO:0002526 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000303 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002108 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001621 biolink:NamedThing hp0009lx5z owl:Class PATO:0000596 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018568 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002707 biolink:NamedThing hp0009lx5z owl:Class PATO:0001309 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003701 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001679 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17053 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002510 biolink:NamedThing hp0009lx5z owl:Class PATO:0000957 biolink:NamedThing hp0009lx5z owl:Class GO:0005739 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001754 biolink:NamedThing hp0009lx5z owl:Class UBERON:0019254 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18282 biolink:NamedThing hp0009lx5z owl:Class GO:0042065 biolink:NamedThing hp0009lx5z owl:Class PATO:0001154 biolink:NamedThing hp0009lx5z owl:Class MPATH:429 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17544 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002106 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002495 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018594 biolink:NamedThing hp0009lx5z owl:Class PATO:0000591 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004412 biolink:NamedThing hp0009lx5z owl:Class CL:0000127 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003679 biolink:NamedThing hp0009lx5z owl:Class OIO:created_by biolink:NamedThing hp0009lx5z owl:AnnotationProperty UBERON:0004393 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001711 biolink:NamedThing hp0009lx5z owl:Class HsapDv:0000081 biolink:NamedThing hp0009lx5z owl:Class GO:0042571 biolink:NamedThing hp0009lx5z owl:Class NBO:0000259 biolink:NamedThing hp0009lx5z owl:Class CHEBI:35987 biolink:NamedThing hp0009lx5z owl:Class CL:0000913 biolink:NamedThing hp0009lx5z owl:Class PATO:0000584 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002012 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002374 biolink:NamedThing hp0009lx5z owl:Class PATO:0000911 biolink:NamedThing hp0009lx5z owl:Class PATO:0001500 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008598 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012168 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018254 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000979 biolink:NamedThing hp0009lx5z owl:Class PATO:0002040 biolink:NamedThing hp0009lx5z owl:Class GO:0050878 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004467 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001231 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004660 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002244 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005200 biolink:NamedThing hp0009lx5z owl:Class PATO:0015007 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001272 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004256 biolink:NamedThing hp0009lx5z owl:Class GO:0042465 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002471 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002515 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001565 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001460 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000995 biolink:NamedThing hp0009lx5z owl:Class rdfs:comment biolink:NamedThing hp0009lx5z owl:AnnotationProperty UBERON:0014763 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002336 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012475 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000033 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004118 biolink:NamedThing hp0009lx5z owl:Class CHEBI:35692 biolink:NamedThing hp0009lx5z owl:Class PATO:0001997 biolink:NamedThing hp0009lx5z owl:Class PATO:0001031 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002198 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002242 biolink:NamedThing hp0009lx5z owl:Class GO:0044307 biolink:NamedThing hp0009lx5z owl:Class GO:0055071 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004571 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002384 biolink:NamedThing hp0009lx5z owl:Class CL:0000895 biolink:NamedThing hp0009lx5z owl:Class MAXO:0010317 biolink:NamedThing hp0009lx5z CHEBI:25500 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000376 biolink:NamedThing hp0009lx5z owl:Class PR:000004089 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001706 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002407 biolink:NamedThing hp0009lx5z owl:Class CL:0000788 biolink:NamedThing hp0009lx5z owl:Class CL:0002368 biolink:NamedThing hp0009lx5z owl:Class MPATH:62 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003889 biolink:NamedThing hp0009lx5z owl:Class PATO:0000462 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18248 biolink:NamedThing hp0009lx5z owl:Class PATO:0040047 biolink:NamedThing hp0009lx5z owl:Class MPATH:156 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17568 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002097 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012240 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001823 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001769 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008833 biolink:NamedThing hp0009lx5z owl:Class UBERON:0010742 biolink:NamedThing hp0009lx5z owl:Class CHEBI:32797 biolink:NamedThing hp0009lx5z owl:Class GO:0071743 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001285 biolink:NamedThing hp0009lx5z owl:Class PATO:0000586 biolink:NamedThing hp0009lx5z owl:Class GO:0022010 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001155 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001351 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018603 biolink:NamedThing hp0009lx5z owl:Class PATO:0002141 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013678 biolink:NamedThing hp0009lx5z owl:Class PATO:0001450 biolink:NamedThing hp0009lx5z owl:Class PATO:0000122 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001564 biolink:NamedThing hp0009lx5z owl:Class NBO:0000043 biolink:NamedThing hp0009lx5z owl:Class PATO:0002290 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001465 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001850 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006072 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013618 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003647 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001049 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003633 biolink:NamedThing hp0009lx5z owl:Class PATO:0000763 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002137 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004251 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002239 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004388 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002235 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17485 biolink:NamedThing hp0009lx5z owl:Class CL:0000624 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000473 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002221 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001007 biolink:NamedThing hp0009lx5z owl:Class CL:0000084 biolink:NamedThing hp0009lx5z owl:Class PR:P47989 biolink:NamedThing hp0009lx5z owl:Class GO:0042113 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007844 biolink:NamedThing hp0009lx5z owl:Class GO:0009064 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002426 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001378 biolink:NamedThing hp0009lx5z owl:Class CHEBI:33567 biolink:NamedThing hp0009lx5z owl:Class PATO:0000117 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001977 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001105 biolink:NamedThing hp0009lx5z owl:Class UBERON:0008775 biolink:NamedThing hp0009lx5z owl:Class owl:deprecated biolink:NamedThing hp0009lx5z owl:AnnotationProperty UBERON:0001015 biolink:NamedThing hp0009lx5z owl:Class PATO:0001469 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001365 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003707 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001419 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001683 biolink:NamedThing hp0009lx5z owl:Class GO:0006560 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001802 biolink:NamedThing hp0009lx5z owl:Class CL:0000081 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001685 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001004 biolink:NamedThing hp0009lx5z owl:Class GO:0042696 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001819 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006606 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001179 biolink:NamedThing hp0009lx5z owl:Class NBO:0000446 biolink:NamedThing hp0009lx5z owl:Class CHEBI:33234 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006864 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003897 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002453 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002019 biolink:NamedThing hp0009lx5z owl:Class PATO:0000387 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006719 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006668 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000045 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007774 biolink:NamedThing hp0009lx5z owl:Class UBERON:0005990 biolink:NamedThing hp0009lx5z owl:Class CHEBI:24875 biolink:NamedThing hp0009lx5z owl:Class UBERON:2005273 biolink:NamedThing hp0009lx5z owl:Class PATO:0001796 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006877 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003975 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002046 biolink:NamedThing hp0009lx5z owl:Class CHEBI:27248 biolink:NamedThing hp0009lx5z owl:Class NBO:0000678 biolink:NamedThing hp0009lx5z owl:Class PATO:0002327 biolink:NamedThing hp0009lx5z owl:Class HsapDv:0000002 biolink:NamedThing hp0009lx5z owl:Class CHEBI:30860 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002319 biolink:NamedThing hp0009lx5z owl:Class rdfs:label biolink:NamedThing hp0009lx5z owl:AnnotationProperty PATO:0000070 biolink:NamedThing hp0009lx5z owl:Class 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hp0009lx5z owl:Class UBERON:0008803 biolink:NamedThing hp0009lx5z owl:Class UBERON:0019246 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014508 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001456 biolink:NamedThing hp0009lx5z owl:Class GO:0006525 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001777 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003639 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011143 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001828 biolink:NamedThing hp0009lx5z owl:Class GO:0006493 biolink:NamedThing hp0009lx5z owl:Class GO:0035878 biolink:NamedThing hp0009lx5z owl:Class GO:0019221 biolink:NamedThing hp0009lx5z owl:Class GO:0042703 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004315 biolink:NamedThing hp0009lx5z owl:Class CHEBI:22695 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17012 biolink:NamedThing hp0009lx5z owl:Class PATO:0001854 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004411 biolink:NamedThing hp0009lx5z owl:Class CHEBI:5931 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013748 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002367 biolink:NamedThing hp0009lx5z owl:Class CHEBI:22984 biolink:NamedThing hp0009lx5z owl:Class PR:000005061 biolink:NamedThing hp0009lx5z owl:Class PATO:0001591 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003862 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016475 biolink:NamedThing hp0009lx5z owl:Class CHEBI:27584 biolink:NamedThing hp0009lx5z owl:Class CHEBI:16997 biolink:NamedThing hp0009lx5z owl:Class PR:000013883 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000056 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001612 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004720 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002420 biolink:NamedThing hp0009lx5z owl:Class MPATH:90 biolink:NamedThing hp0009lx5z owl:Class UBERON:0015180 biolink:NamedThing hp0009lx5z owl:Class CL:0000771 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001352 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016430 biolink:NamedThing hp0009lx5z owl:Class PATO:0000460 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011818 biolink:NamedThing hp0009lx5z owl:Class PATO:0001617 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001705 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011220 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004481 biolink:NamedThing hp0009lx5z owl:Class PATO:0001958 biolink:NamedThing hp0009lx5z owl:Class PATO:0001899 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004615 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018596 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001896 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002490 biolink:NamedThing hp0009lx5z owl:Class CHEBI:26361 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000956 biolink:NamedThing hp0009lx5z owl:Class PATO:0001669 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000345 biolink:NamedThing hp0009lx5z owl:Class GO:0006693 biolink:NamedThing hp0009lx5z owl:Class PATO:0001819 biolink:NamedThing hp0009lx5z owl:Class GO:0034435 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006862 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001075 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011111 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006073 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002113 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004338 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016452 biolink:NamedThing hp0009lx5z owl:Class GO:0006629 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001582 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007250 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011104 biolink:NamedThing hp0009lx5z owl:Class GO:0050817 biolink:NamedThing hp0009lx5z owl:Class GO:0045453 biolink:NamedThing hp0009lx5z owl:Class GO:0022011 biolink:NamedThing hp0009lx5z owl:Class CL:0000909 biolink:NamedThing hp0009lx5z owl:Class CL:0000767 biolink:NamedThing hp0009lx5z owl:Class UBERON:0012360 biolink:NamedThing hp0009lx5z 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biolink:NamedThing hp0009lx5z owl:Class OIO:hasBroadSynonym biolink:NamedThing has_broad_synonym hp0009lx5z owl:AnnotationProperty PATO:0000411 biolink:NamedThing hp0009lx5z owl:Class PATO:0002282 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003645 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003462 biolink:NamedThing hp0009lx5z owl:Class GO:0046951 biolink:NamedThing hp0009lx5z owl:Class CL:0000233 biolink:NamedThing hp0009lx5z owl:Class CHEBI:17650 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000924 biolink:NamedThing hp0009lx5z owl:Class PATO:0000467 biolink:NamedThing hp0009lx5z owl:Class GO:0006582 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001833 biolink:NamedThing hp0009lx5z owl:Class PATO:0000694 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007709 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004404 biolink:NamedThing hp0009lx5z owl:Class PATO:0001780 biolink:NamedThing hp0009lx5z owl:Class UBERON:0007116 biolink:NamedThing hp0009lx5z owl:Class UBERON:0018229 biolink:NamedThing hp0009lx5z owl:Class PATO:0001552 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002361 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000059 biolink:NamedThing hp0009lx5z owl:Class PATO:0000616 biolink:NamedThing hp0009lx5z owl:Class NBO:0000233 biolink:NamedThing hp0009lx5z owl:Class PATO:0000082 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004387 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001623 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000913 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014674 biolink:NamedThing hp0009lx5z owl:Class CHEBI:37024 biolink:NamedThing hp0009lx5z owl:Class PATO:0001852 biolink:NamedThing hp0009lx5z owl:Class CHEBI:50404 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001092 biolink:NamedThing hp0009lx5z owl:Class UBERON:0000483 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001576 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001875 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004176 biolink:NamedThing hp0009lx5z owl:Class GO:0055067 biolink:NamedThing hp0009lx5z owl:Class GO:0009072 biolink:NamedThing hp0009lx5z owl:Class PATO:0002176 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014852 biolink:NamedThing hp0009lx5z owl:Class GO:0006955 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002068 biolink:NamedThing hp0009lx5z owl:Class GO:0006566 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001100 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001846 biolink:NamedThing hp0009lx5z owl:Class UBERON:0016480 biolink:NamedThing hp0009lx5z owl:Class PATO:0040048 biolink:NamedThing hp0009lx5z owl:Class PR:000003969 biolink:NamedThing hp0009lx5z owl:Class UBERON:0003632 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001273 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004255 biolink:NamedThing hp0009lx5z owl:Class GO:0072377 biolink:NamedThing hp0009lx5z owl:Class UBERON:0011282 biolink:NamedThing hp0009lx5z owl:Class CHEBI:18376 biolink:NamedThing hp0009lx5z owl:Class UBERON:0001463 biolink:NamedThing hp0009lx5z owl:Class UBERON:0013698 biolink:NamedThing hp0009lx5z owl:Class UBERON:0004390 biolink:NamedThing hp0009lx5z owl:Class UBERON:0017690 biolink:NamedThing hp0009lx5z owl:Class PATO:0001848 biolink:NamedThing hp0009lx5z owl:Class UBERON:0006320 biolink:NamedThing hp0009lx5z owl:Class UBERON:0014504 biolink:NamedThing hp0009lx5z owl:Class UBERON:0002134 biolink:NamedThing hp0009lx5z owl:Class OBO:hp/hp-base.owl biolink:NamedThing Graph