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 th